A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. (Q41926884)

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3 March 2020

title

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome (English)

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3

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Andrée Delahaye

10

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Marlene Rio

25

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Jean-Paul Bonnefont

27

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Valérie Cormier-Daire

28

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author name string

M Nizon

1

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M Henry

2

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C Baumann

4

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A Bazin

5

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B Bessières

6

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S Blesson

7

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M-P Cordier-Alex

8

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A David

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A-L Delezoïde

11

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A Dieux-Coeslier

12

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M Doco-Fenzy

13

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L Faivre

14

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A Goldenberg

15

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V Layet

16

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P Loget

17

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S Marlin

18

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J Martinovic

19

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S Odent

20

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L Pasquier

21

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G Plessis

22

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F Prieur

23

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A Putoux

24

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H Testard

26

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publication date

3 February 2016

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volume

89

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issue

5

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page(s)

584-589

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de Lange syndrome: a clinical review of 310 individuals

3 March 2020

cites work

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

21 January 2018

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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

21 January 2018

1 reference

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

21 January 2018

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

21 January 2018

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

21 January 2018

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RAD21 mutations cause a human cohesinopathy

21 January 2018

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High rate of mosaicism in individuals with Cornelia de Lange syndrome.

21 January 2018

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NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

21 January 2018

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NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

21 January 2018

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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation

21 January 2018

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Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

21 January 2018

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Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

21 January 2018

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Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

21 January 2018

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Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

21 January 2018

1 reference

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

21 January 2018

1 reference

Germline mosaicism in Cornelia de Lange syndrome.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12720

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3 March 2020

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