Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. (Q34752030)

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24 February 2020

title

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency (English)

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24 February 2020

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18

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24 February 2020

Verónica Mericq

12

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24 February 2020

Paulina M Merino

13

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24 February 2020

Nada Al Tassan

17

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24 February 2020

8

Lacey Plummer

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24 February 2020

19

William F Crowley

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24 February 2020

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Dorota Monies

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24 February 2020

author name string

Ravikumar Balasubramanian

1

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24 February 2020

Jin-Ho Choi

2

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24 February 2020

Ludmila Francescatto

3

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24 February 2020

Jason Willer

4

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24 February 2020

Edward R Horton

5

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24 February 2020

Eleni P Asimacopoulos

6

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24 February 2020

Konstantina M Stankovic

7

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24 February 2020

Cassandra L Buck

9

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24 February 2020

Richard Quinton

10

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24 February 2020

Todd D Nebesio

11

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24 February 2020

Brian F Meyer

14

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24 February 2020

James F Gusella

16

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24 February 2020

language of work or name

English

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publication date

3 December 2014

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24 February 2020

number of pages

6

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

1 reference

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24 February 2020

volume

111

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24 February 2020

page(s)

17953-17958

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24 February 2020

issue

50

1 reference

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

24 February 2020

cites work

1 reference

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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

7 July 2018

1 reference

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Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L.

7 July 2018

1 reference

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

7 July 2018

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Mutation update on the CHD7 gene involved in CHARGE syndrome

7 July 2018

1 reference

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Role of Chd7 in zebrafish: a model for CHARGE syndrome

7 July 2018

1 reference

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Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network

7 July 2018

1 reference

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Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

7 July 2018

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A graphical interface for the FoldX forcefield

7 July 2018

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

7 July 2018

1 reference

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Mutations in the CHD7 gene: the experience of a commercial laboratory

7 July 2018

1 reference

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Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase.

7 July 2018

1 reference

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

7 July 2018

1 reference

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Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

7 July 2018

1 reference

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Protein structure homology modeling using SWISS-MODEL workspace.

7 July 2018

1 reference

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CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

7 July 2018

1 reference

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Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

7 July 2018

1 reference

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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

7 July 2018

1 reference

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Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

7 July 2018

1 reference

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CHARGE syndrome: an update

7 July 2018

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7 July 2018

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

7 July 2018

1 reference

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Origin of luteinizing hormone-releasing hormone neurons

7 July 2018

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CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation

7 July 2018

1 reference

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CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

21 January 2018

1 reference

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The developmental biology of the GnRH neurons.

21 January 2018

1 reference

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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

21 January 2018

1 reference

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The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1417438111

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1417438111

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

21 January 2018

1 reference

12 December 2020

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome

1 reference

12 December 2020

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

12 December 2020

Hypogonadism and CHARGE association

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1417438111

1 reference

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24 February 2020

0 references

1 reference

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24 February 2020

1 reference

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