(Q24297162)

European Journal of Human Genetics

GOA release 2020-03-11

1 reference

Alain Verloes

2

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Damien Sanlaville

series ordinal

1

object named as

Damien Sanlaville

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language of work or name

English

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publication date

April 2007

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published in

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volume

15

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page(s)

389-99

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issue

4

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cites work

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

Ocular findings in CHARGE syndrome. Six case reports and a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

Auditory and temporal bone abnormalities in CHARGE association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

Ear-nose-throat abnormalities in the CHARGE association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

Vestibular function in children with the CHARGE association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

Adaptive behavior in children with CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

Role of neural crest in congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

A recognizable syndrome within CHARGE association: Hall-Hittner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Choanal atresia and associated multiple anomalies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Syndrome of coloboma with multiple congenital abnormalities in infancy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Properties of associations: identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE association: an update and review for the primary pediatrician

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Epidemiology of choanal atresia with special reference to the CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE syndrome: report of 47 cases and review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

[The CHARGE association]

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Familial CHARGE syndrome: clinical report with autopsy findings.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Concordant aortic arch anomalies in monozygotic twins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Twins with oesophageal atresia and the CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Who's in CHARGE? Multidisciplinary management of patients with CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE association in Sweden: malformations and functional deficits

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

The eye in the CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CT of the temporal bone in the CHARGE association.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Mondini defect in association with multiple congenital anomalies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

The temporal bone anomaly in CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Congenital aplasia of the semicircular canals

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE syndrome. Part II. Hearing loss.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Choanal atresia and associated anomalies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Central nervous system malformations in the CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Olfactory evaluation in children: application to the CHARGE syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Cranial nerve abnormalities in CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Aspiration in children with CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Growth failure and pituitary function in CHARGE and VATER associations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Hypogonadism and CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Growth in CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Early oral sensory experiences and feeding development in children with CHARGE syndrome: a report of five cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Genitourinary anomalies in the CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Adolescent and adult issues in CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Congenital heart disease in CHARGE association.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Immune deficiency in CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Features of DiGeorge syndrome and CHARGE association in five patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Scoliosis in CHARGE: a prospective survey and two case reports

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Pedagogical handicap associated with micropenis and other CHARGE syndrome anomalies of embryogenesis: four 46, XY cases reared as girls

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Use of an expert model to test diagnostic criteria in CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Antenatal ultrasonographic findings in the CHARGE association.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Characterization of the CHD family of proteins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

The many colours of chromodomains.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Functional diversity of ISWI complexes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

DHPLC in clinical molecular diagnostic services

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

SEMA3E mutation in a patient with CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Deletion in chromosome region 22q11 in a child with CHARGE association.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Defects and Disabilities of Thalidomide Children

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Clomiphene, anencephaly, and spina bifida

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Malformations in infants of diabetic mothers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Fetal alcohol syndrome and DiGeorge anomaly: critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Thalidomide embryopathy: revisited 27 years later

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Pathologic features of the CHARGE association: support for involvement of the neural crest.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

3:1 meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201778

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201778

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1938224

1020487259

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1938224

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference