Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. (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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Tania Attié-Bitach

3

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Dominique Bonneau

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Didier Lacombe

9

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Annick Toutain

10

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Laurence Olivier-Faivre

19

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Damien Sanlaville

30

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Brigitte Gilbert-Dussardier

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47

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Frédéric Bilan

46

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Massimiliano Rossi

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Massimiliano Rossi

39

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Delphine Héron

26

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Delphine Héron

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author name string

Véronique Abadie

2

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Nicole Philip

4

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Tiffany Busa

5

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Estelle Colin

7

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Hélène Dollfus

8

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Sophie Blesson

11

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Sophie Julia

12

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Dominique Martin-Coignard

13

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David Geneviève

14

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Bruno Leheup

15

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Sylvie Odent

16

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Pierre-Simon Jouk

17

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Sandra Mercier

18

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Catherine Vincent-Delorme

20

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Christine Francannet

21

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Sophie Naudion

22

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Michèle Mathieu-Dramard

23

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Marie-Ange Delrue

24

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Alice Goldenberg

25

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Philippe Parent

27

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Renaud Touraine

28

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Valérie Layet

29

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Chloé Quélin

31

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Sébastien Moutton

32

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Mélanie Fradin

33

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Aurélia Jacquette

34

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Sabine Sigaudy

35

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Lucile Pinson

36

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Pierre Sarda

37

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Anne-Marie Guerrot

38

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Alice Masurel-Paulet

40

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Salima El Chehadeh

41

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Xavier Piguel

42

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Montserrat Rodriguez-Ballesteros

43

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Stéphanie Ragot

44

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Stanislas Lyonnet

45

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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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volume

175

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page(s)

417-430

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issue

4

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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

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4 April 2020

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