(Q47361425)

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4 April 2020

title

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome (English)

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4 April 2020

1

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4 April 2020

Tania Attié-Bitach

3

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4 April 2020

Dominique Bonneau

6

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4 April 2020

Didier Lacombe

9

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4 April 2020

Annick Toutain

10

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4 April 2020

Laurence Olivier-Faivre

19

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4 April 2020

Damien Sanlaville

30

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Brigitte Gilbert-Dussardier

4 April 2020

47

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4 April 2020

Frédéric Bilan

46

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Massimiliano Rossi

object named as

Massimiliano Rossi

39

0 references

Delphine Héron

26

object named as

Delphine Héron

1 reference

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4 April 2020

40

Alice Masurel-Paulet

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4 April 2020

41

Salima El Chehadeh

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4 April 2020

author name string

Véronique Abadie

2

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4 April 2020

Nicole Philip

4

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4 April 2020

Tiffany Busa

5

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4 April 2020

Estelle Colin

7

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4 April 2020

Hélène Dollfus

8

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4 April 2020

Sophie Blesson

11

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4 April 2020

Sophie Julia

12

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4 April 2020

Dominique Martin-Coignard

13

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4 April 2020

David Geneviève

14

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4 April 2020

Bruno Leheup

15

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4 April 2020

Sylvie Odent

16

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4 April 2020

Pierre-Simon Jouk

17

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4 April 2020

Sandra Mercier

18

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4 April 2020

Catherine Vincent-Delorme

20

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4 April 2020

Christine Francannet

21

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4 April 2020

Sophie Naudion

22

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4 April 2020

Michèle Mathieu-Dramard

23

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4 April 2020

Marie-Ange Delrue

24

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4 April 2020

Alice Goldenberg

25

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4 April 2020

Philippe Parent

27

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4 April 2020

Renaud Touraine

28

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4 April 2020

Valérie Layet

29

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4 April 2020

Chloé Quélin

31

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4 April 2020

Sébastien Moutton

32

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4 April 2020

Mélanie Fradin

33

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4 April 2020

Aurélia Jacquette

34

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4 April 2020

Sabine Sigaudy

35

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4 April 2020

Lucile Pinson

36

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4 April 2020

Pierre Sarda

37

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4 April 2020

Anne-Marie Guerrot

38

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4 April 2020

Xavier Piguel

42

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4 April 2020

Montserrat Rodriguez-Ballesteros

43

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4 April 2020

Stéphanie Ragot

44

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4 April 2020

Stanislas Lyonnet

45

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4 April 2020

publication date

27 November 2017

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

4 April 2020

published in

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4 April 2020

volume

175

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4 April 2020

issue

4

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4 April 2020

page(s)

417-430

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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

4 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

CHARGE association: an update and review for the primary pediatrician

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

Choanal atresia and associated multiple anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

Mutation update on the CHD7 gene involved in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

CHARGE syndrome: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

CHARGE syndrome: report of 47 cases and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31591

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31591

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29178447%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

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