De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. (Q30371477)

21 June 2017

title

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. (English)

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Gabriele Gillessen-Kaesbach

21 June 2017

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32

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24

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Jan-Jaap Wesselink

12

Jan-Jaap Wesselink

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Iñigo Marcos-Alcalde

Iñigo Marcos-Alcalde

11

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Ethel Queralt

Ethel Queralt

42

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Lilian Bomme Ousager

Lilian B Ousager

7

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Cristina Gervasini

Cristina Gervasini

23

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Juan Pié

Juan Pié

62

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Yun Rose Li

Yun R Li

36

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Paulino Gómez-Puertas

Paulino Gómez-Puertas

51

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David R. FitzPatrick

David R FitzPatrick

61

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Hakon Hakonarson

26

Hakon Hakonarson

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59

Raoul C M Hennekam

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Feliciano J Ramos

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María Concepción Gil-Rodríguez

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María Concepción Gil-Rodríguez

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Matthew A Deardorff

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Beatriz Puisac

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Ian D Krantz

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César H Casale

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María Esperanza Teresa-Rodrigo

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María Esperanza Teresa-Rodrigo

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Carolina Baquero-Montoya

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Carolina Baquero-Montoya

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Angelo Selicorni

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Lidia Larizza

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Morad Ansari

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Christopher A Tan

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Ilaria Parenti

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María Hernández-Marcos

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Silvia Lusa-Bernal

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Emilia K Bijlsma

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Diana Braunholz

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Inés Bueno-Martinez

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Dinah Clark

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Nicola S Cooper

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Cynthia J Curry

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Richard Fisher

20

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Alan Fryer

21

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Jaya Ganesh

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Yiran Guo

25

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Robert J Hopkin

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Maninder Kaur

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Brendan J Keating

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María Kibaek

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Esther Kinning

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Antonie D Kline

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Ekaterina Kuchinskaya

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Xuanzhu Liu

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Milena Mariani

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Jonathan D Picker

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Ángeles Pié

40

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Jelena Pozojevic

41

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Julie Richer

43

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Elizabeth Roeder

44

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Anubha Sinha

45

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Richard H Scott

46

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Joyce So

47

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Katherine A Wusik

48

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Louise Wilson

49

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Jianguo Zhang

50

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Lena Ström

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Laird G Jackson

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Soma Das

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Frank J Kaiser

60

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21 June 2017

publication date

17 March 2015

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21 June 2017

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21 June 2017

volume

36

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21 June 2017

issue

4

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21 June 2017

page(s)

454-462

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A method and server for predicting damaging missense mutations

21 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Toward the estimation of the absolute quality of individual protein structure models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Predicting the functional effect of amino acid substitutions and indels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

RAD21 mutations cause a human cohesinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Structure and stability of cohesin's Smc1-kleisin interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

de Lange syndrome: a clinical review of 310 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Auditory brainstem responses in children with Cornelia de Lange syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

A positively charged channel within the Smc1/Smc3 hinge required for sister chromatid cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Predicting coiled coils from protein sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Cohesin: its roles and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

T-Coffee: A novel method for fast and accurate multiple sequence alignment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

ProMod and Swiss-Model: Internet-based tools for automated comparative protein modelling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

SWISS-MODEL: An automated protein homology-modeling server

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

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

https://api.crossref.org/works/10.1002%2FHUMU.22761

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Ophthalmologic findings in the Cornelia de Lange Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Protein modelling for all

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

7 January 2021

Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

7 January 2021

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

7 January 2021

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

7 January 2021

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22761

7 January 2021

Identifiers

DOI

10.1002/HUMU.22761

1 reference

21 June 2017

1 reference