(Q40442693)

English

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

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scholarly article

1 reference

Europe PubMed Central

20 September 2017

1 reference

Europe PubMed Central

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature (English)

1 reference

Europe PubMed Central

20 September 2017

author name string

S Demczuk

1

1 reference

Europe PubMed Central

20 September 2017

A Lévy

2

1 reference

Europe PubMed Central

20 September 2017

M Aubry

3

1 reference

Europe PubMed Central

20 September 2017

M F Croquette

4

1 reference

Europe PubMed Central

20 September 2017

N Philip

5

1 reference

Europe PubMed Central

20 September 2017

M Prieur

6

1 reference

Europe PubMed Central

20 September 2017

U Sauer

7

1 reference

Europe PubMed Central

20 September 2017

P Bouvagnet

8

1 reference

Europe PubMed Central

20 September 2017

G A Rouleau

9

1 reference

Europe PubMed Central

20 September 2017

G Thomas

10

1 reference

Europe PubMed Central

20 September 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 July 1995

1 reference

Europe PubMed Central

20 September 2017

1 reference

Europe PubMed Central

20 September 2017

96

1 reference

Europe PubMed Central

20 September 2017

9-13

1 reference

Europe PubMed Central

20 September 2017

1

1 reference

Europe PubMed Central

20 September 2017

https://scigraph.springernature.com/pub.10.1007/bf00214179

0 references

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype

1 reference

https://api.crossref.org/works/10.1007%2FBF00214179

21 January 2018

Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Velo-cardio-facial syndrome presenting as holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental origin of chromosomes involved in the translocation t(9;22).

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions within chromosome 22q11 in familial congenital heart disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of genomic imprinting: An Imprintor-1 gene controls inactivation of the paternal copy of the mouse Tme locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dinucleotide repeat polymorphism at the D22S264 locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Confirmation of autosomal dominant transmission of the DiGeorge malformation complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The velo-cardio-facial syndrome: a clinical and genetic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial thymic aplasia. Attempted reconstitution with fetal thymus in a Millipore diffusion chamber

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of imprinting of BCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac malformations in the velocardiofacial syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic imprinting: review and relevance to human diseases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome: part of CATCH 22.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Di George anomaly and velocardiofacial syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7607662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00214179

1 reference

Europe PubMed Central

20 September 2017

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0 references

1 reference

Europe PubMed Central

20 September 2017

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