(Q92134631)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31337854%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

title

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31337854%20AND%20SRC:MED&resulttype=core&format=json

Cornelia de Lange syndrome

27 April 2020

main subject

1 reference

7

1 reference

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27 April 2020

Yuri Uchiyama

10

1 reference

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27 April 2020

Atsushi Takata

16

1 reference

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27 April 2020

Naomichi Matsumoto

22

1 reference

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27 April 2020

21

Chong Ae Kim

1 reference

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27 April 2020

6

Rachel S Honjo

1 reference

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27 April 2020

author name string

Hiromi Aoi

1

1 reference

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27 April 2020

Takeshi Mizuguchi

2

1 reference

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27 April 2020

José Ricard Ceroni

3

1 reference

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27 April 2020

Veronica Eun Hue Kim

4

1 reference

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27 April 2020

Isabel Furquim

5

1 reference

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27 April 2020

Toshifumi Suzuki

8

1 reference

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27 April 2020

Futoshi Sekiguchi

9

1 reference

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27 April 2020

Yoshiteru Azuma

11

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27 April 2020

Kohei Hamanaka

12

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27 April 2020

Eriko Koshimizu

13

1 reference

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27 April 2020

Satoko Miyatake

14

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27 April 2020

Satomi Mitsuhashi

15

1 reference

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27 April 2020

Noriko Miyake

17

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27 April 2020

Satoru Takeda

18

1 reference

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27 April 2020

Atsuo Itakura

19

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27 April 2020

Débora R Bertola

20

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27 April 2020

publication date

23 July 2019

1 reference

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Journal of Human Genetics

27 April 2020

published in

1 reference

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27 April 2020

volume

64

1 reference

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27 April 2020

issue

10

1 reference

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27 April 2020

page(s)

967-978

1 reference

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

27 April 2020

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7 January 2021

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

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Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother

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7 January 2021

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7 January 2021

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7 January 2021

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

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7 January 2021

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

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7 January 2021

Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome

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7 January 2021

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31337854%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

1 reference