(Q37164120)

18 August 2017

1 reference

title

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management (English)

1 reference

cardiovascular abnormality

18 August 2017

1 reference

1 reference

8

0 references

Elaine Zackai

14

object named as

Elaine Zackai

1 reference

18 August 2017

Donna M McDonald-McGinn

6

object named as

Donna M McDonald-McGinn

1 reference

18 August 2017

3

Elizabeth Goldmuntz

1 reference

18 August 2017

Angela E Lin

1

1 reference

18 August 2017

Craig T Basson

2

1 reference

18 August 2017

Pilar L Magoulas

4

1 reference

18 August 2017

Deborah A McDermott

5

1 reference

18 August 2017

Elspeth McPherson

7

1 reference

18 August 2017

Jacqueline Noonan

9

1 reference

18 August 2017

Catherine Nowak

10

1 reference

18 August 2017

Mary Ella Pierpont

11

1 reference

18 August 2017

Reed E Pyeritz

12

1 reference

18 August 2017

Alan F Rope

13

1 reference

18 August 2017

Barbara R Pober

15

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 July 2008

1 reference

18 August 2017

1 reference

18 August 2017

10

1 reference

18 August 2017

7

1 reference

18 August 2017

469-494

1 reference

Clinical manifestations of Noonan syndrome

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Diagnosis and management of medical problems in adults with Williams-Beuren syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Adult dysmorphology: perspectives on approach to diagnosis and care

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Loeys-Dietz syndrome: MDCT angiography findings

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Growth hormone treatment and left ventricular dimensions in Turner syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Abdominal visceral findings in patients with Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

The second trimester genetic sonogram.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Prenatal diagnosis of structural cardiac defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

First trimester ultrasonography in screening and detection of fetal anomalies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Aneuploidy screening in the first trimester

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Clinical practice. In vitro fertilization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Liver involvement in hereditary hemorrhagic telangiectasia (HHT).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Echocardiographic findings in patients with Williams-Beuren syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

The natural history of Noonan syndrome: a long-term follow-up study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Aneurysm syndromes caused by mutations in the TGF-beta receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Acute health events in adult patients with genetic disorders: the Marshfield Epidemiologic Study Area

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

The cardiofaciocutaneous syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Optimising management in Turner syndrome: from infancy to adult transfer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

SMAD4 mutations found in unselected HHT patients.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Report of the National Heart, Lung, and Blood Institute Working Group on research in adult congenital heart disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Germline KRAS mutations cause Noonan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Gynecological health of females with congenital heart disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Transitioning the young adult with congenital heart disease for life-long medical care

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Heterozygous TGFBR2 mutations in Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Partial anomalous pulmonary vein connection: an underestimated cardiovascular defect in Ullrich-Turner syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Williams Syndrome: 15 Years of Psychological Research

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Further delineation of cardiac abnormalities in Costello syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Insurance coverage and outcomes of in vitro fertilization.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Cardiovascular manifestations in 75 patients with Williams syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Combined catheter-based pulmonary valvuloplasty and atrial septal defect closure in Noonan syndrome. A case report and literature review

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Prevalence estimation of Williams syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Genetic counseling for congenital heart disease: new approaches for a new decade

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Health care management of adults with Down syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Wolf-Hirschhorn (4p-) syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Congenital supravalvar aortic stenosis: a simple lesion?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

American Academy of Pediatrics: Health supervision for children with Down syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Congenital heart disease in adults. Second of two parts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Congenital heart disease in adults. First of two parts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Multiple left-sided cardiac lesions in one of Noonan's original patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Phenotype of adults with the 22q11 deletion syndrome: A review

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Surgical repair of tetralogy of Fallot in adults today.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

A population study of chromosome 22q11 deletions in infancy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

22q11 deletion syndrome in adults with schizophrenia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Anaesthesia in a parturient with Noonan's syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Cardiovascular malformations and complications in Turner syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Revised diagnostic criteria for the Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Stroke in Williams syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

DiGeorge syndrome: part of CATCH 22.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Noonan's cardiomyopathy: a non-hypertrophic variant

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Syncope and sinus arrest associated with the upper limb-cardiovascular (Holt-Oram) syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Outcome of ovum donation in Turner’s syndrome patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Retinoic acid embryopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Oral contraceptives and venous thromboembolism: findings in a large prospective study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Severe pulmonary hypertension in Ullrich-Noonan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Natural history of Williams syndrome: physical characteristics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Turner's syndrome--review of the literature with reference to a successful pregnancy outcome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Reproduction in Down's syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

A clinical study of Noonan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Report of two cases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Genotype-phenotype correlations in Noonan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Prevalence and correlates of successful transfer from pediatric to adult health care among a cohort of young adults with complex congenital heart defects

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Maternal and fetal complications of pregnancy in the Marfan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Pregnancy and the Turner syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

The management of hypertrophic cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Sudden death in Williams syndrome: report of ten cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Coarctation of the aorta in Turner syndrome: a pathologic study of fetuses with nuchal cystic hygromas, hydrops fetalis, and female genitalia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Preimplantation genetic diagnosis: patients' experiences and attitudes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

The annual incidence of DiGeorge/velocardiofacial syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Opitz GBBB syndrome and the 22q11.2 deletion.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Two-dimensional echocardiographic aortic root dimensions in normal children and adults

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Diagnosis and management of infantile marfan syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Hypertrophic cardiomyopathy progressing to a dilated cardiomyopathy-like feature in Noonan's syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Interrupted aortic arch in infancy: a 10-year experience

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Lipids and lipoproteins in persons with Down's syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Turner syndrome is an independent risk factor for aortic dilation in the young.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Aortic dilatation and dissection in Turner syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Socio-communicative deficits in young children with Williams syndrome: performance on the Autism Diagnostic Observation Schedule

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Focus on the heart and aorta in Turner syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Turner's syndrome and coronary artery disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Aortic valve preservation in patients with aortic root aneurysm: results of the reimplantation technique.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Prolonged rate-corrected QT interval and other electrocardiogram abnormalities in girls with Turner syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Liver involvement in hereditary hemorrhagic telangiectasia: CT and clinical findings do not correlate in symptomatic patients.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Monosomy for the X-chromosome is associated with an atherogenic lipid profile.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Prolongation of the cardiac QTc interval in Turner syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Growth hormone treatment and aortic dimensions in Turner syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Pregnancy outcomes in women with congenital heart disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Clinical and anatomic outcomes after embolotherapy of pulmonary arteriovenous malformations

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Clinical features of 78 adults with 22q11 Deletion Syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Giant aneurysms of the sinuses of Valsalva and aortic regurgitation in a patient with Noonan's syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

The adult phenotype in Costello syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Multisystem study of 20 older adults with Williams syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Risk of sudden death in the Williams-Beuren syndrome.

3 September 2018

1 reference

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Lipid profiles in women with 45,X vs 46,XX primary ovarian failure

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

3 September 2018

1 reference

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Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Pregnancy in patients with heart disease: experience with 1,000 cases

3 September 2018

1 reference

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Diagnosis and management of gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia.

3 September 2018

1 reference

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Continued occurrence of Accutane-exposed pregnancies

3 September 2018

1 reference

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Prospective multicenter study of pregnancy outcomes in women with heart disease

3 September 2018

1 reference

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Maternal diabetes: an independent risk factor for major cardiovascular malformations with increased mortality of affected infants

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Population-based study of congenital heart defects in Down syndrome.

3 September 2018

1 reference

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Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671242

Congenital heart disease in patients with Turner’s syndrome

3 September 2018

1 reference

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Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

21 January 2018

1 reference

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Life expectancy in the Marfan syndrome

21 January 2018

1 reference

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Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

20 October 2018

1 reference

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Genetic Syndromes and Outcome After Surgical Correction of Tetralogy of Fallot

21 January 2018

1 reference

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Aortic dilatation in patients with bicuspid aortic valve

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181772111

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181772111

Clinical and epidemiological description of aortic dissection in Turner's syndrome

21 January 2018

1 reference

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Clinical, social, and ethical implications of changing life expectancy in Down syndrome

4 December 2018

1 reference

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Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of fallot with pulmonary atresia

4 December 2018

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12 December 2020

Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome

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12 December 2020

Prenatal sonographic diagnosis of Holt-Oram syndrome

1 reference

12 December 2020

22q11.2 microdeletions in adults with familial tetralogy of Fallot

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12 December 2020

Adults with Williams syndrome

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12 December 2020

Health supervision for children with Down syndrome

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12 December 2020

Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction

1 reference

12 December 2020

Aortic root dilatation is a rare complication of Noonan syndrome

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12 December 2020

Cerebral artery stenoses in Williams syndrome cause strokes in childhood

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12 December 2020

The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue

1 reference

12 December 2020

An autopsied case of Williams syndrome complicated by moyamoya disease

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12 December 2020

A spontaneous and uneventful pregnancy in a Turner mosaic with previous recurrent miscarriages.

1 reference

12 December 2020

Estimates of life expectancy by adolescents and young adults with congenital heart disease

1 reference

12 December 2020

Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome

1 reference

12 December 2020

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

12 December 2020

Pregnancy in women with Noonan syndrome: report of two cases

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12 December 2020

Plasminogen activator inhibitor type 1 in adults with Down syndrome and protection against macrovascular disease

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12 December 2020

Anatomic patterns of conotruncal defects associated with deletion 22q11

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12 December 2020

Aneurysms of the sinuses of Valsalva in Noonan's syndrome

1 reference

12 December 2020

Normal pregnancy in a case of Noonan syndrome with hypertrophic cardiomyopathy

1 reference

12 December 2020

1 reference

12 December 2020

Valve-sparing aortic root replacement in patients with the Marfan syndrome

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12 December 2020

Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease

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12 December 2020

Three live-birth pregnancies in a woman with Williams syndrome

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12 December 2020

Delivery of care for adult patients with congenital heart disease in Europe: results from the Euro Heart Survey.

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12 December 2020

Sustained atrial arrhythmias in adults late after repair of tetralogy of fallot

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12 December 2020

The Williams syndrome cognitive profile

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12 December 2020

Pregnancy in an adult mongoloid female: report of a case

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12 December 2020

Holt-oram syndrome with hemizygous continuation of inferior vena cava

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12 December 2020

Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature

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12 December 2020

Menstrual patterns in women with congenital heart disease

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12 December 2020

A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment

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12 December 2020

A prospective longitudinal evaluation of pregnancy in the Marfan syndrome

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12 December 2020

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

1 reference

12 December 2020

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome

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12 December 2020

Successful pregnancy in a Noonan syndrome patient after 3 unsuccessful pregnancies from severe fetal hydrops: a case report

1 reference

12 December 2020

1 reference

12 December 2020

Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients

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12 December 2020

Is Down syndrome a risk factor for poor outcome after repair of congenital heart defects?

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12 December 2020

Classifying recommendations for clinical practice guidelines

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12 December 2020

Task force 2: special health care needs of adults with congenital heart disease

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12 December 2020

Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome

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12 December 2020

Risk factors for arrhythmia and sudden cardiac death late after repair of tetralogy of Fallot: a multicentre study

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12 December 2020

A multicentre approach for the management of adults with congenital heart disease

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12 December 2020

Interrupted aortic arch. Impact of subaortic stenosis on management and outcome

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12 December 2020

A consensus statement on health care transitions for young adults with special health care needs

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12 December 2020

Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features

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12 December 2020

Asymmetric septal hypertrophy in a 41-year-old woman with Noonan's syndrome

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12 December 2020

Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality

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12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

1 reference

12 December 2020

Two pregnancies in a woman with Williams syndrome

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12 December 2020

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations

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12 December 2020

Task force 5: adults with congenital heart disease: access to care

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12 December 2020

Aortic dissection in Noonan's syndrome (46 XY turner)

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12 December 2020

Williams syndrome: autosomal dominant inheritance

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12 December 2020

Life Expectancy and Causes of Death in the Marfan Syndrome

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12 December 2020

Echocardiographic evaluation of cardiac valvular abnormalities in adults with Down's syndrome

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12 December 2020

Quality of life and health status in adults with congenital heart disease: a direct comparison with healthy counterparts

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12 December 2020

Reproduction in Down syndrome

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12 December 2020

The antenatal ultrasonographic detection of the Holt-Oram syndrome

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12 December 2020

Outcome in Down syndrome fetuses with cardiac anomalies

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12 December 2020

Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult

1 reference

12 December 2020

An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect

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12 December 2020

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

1 reference

12 December 2020

Replacement of the aortic root in patients with Marfan's syndrome

1 reference

12 December 2020

Current subjective state of health, and longitudinal psychological well-being over a period of 10 years, in a cohort of adults with congenital cardiac disease

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12 December 2020

Place of preimplantation diagnosis in genetic practice

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12 December 2020

Constrictive pericarditis simulating intestinal lymphangiectasia in a patient with the Noonan syndrome

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12 December 2020

A case report of Noonan's syndrome with pulmonary valvar stenosis and coronary aneurysms

1 reference

12 December 2020

Sustained reversal of right-to-left atrial septal defect flow after pulmonic valvuloplasty in an adult

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12 December 2020

Improved national prevalence estimates for 18 selected major birth defects--United States, 1999-2001

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12 December 2020

Preimplantation genetic diagnosis

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Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course

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12 December 2020

Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation

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12 December 2020

A case of Noonan's syndrome with primary pulmonary hypertension

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12 December 2020

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome

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12 December 2020

Aortic distensibility and dimensions and the effects of growth hormone treatment in the turner syndrome

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12 December 2020

ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent

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12 December 2020

Valvular heart disease (aortic regurgitation and mitral valve prolapse) among institutionalized adults with Down's syndrome

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12 December 2020

The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age

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Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy

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10.1097/GIM.0B013E3181772111

Identifiers

DOI

1 reference

Dimensions Publication ID

18 August 2017

0 references

1 reference

18 August 2017

PubMed publication ID

18580689

1 reference