Special cases in Cornelia de Lange syndrome: The Spanish experience. (Q38831018)

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4 April 2020

review article

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title

Special cases in Cornelia de Lange syndrome: The Spanish experience (English)

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Cornelia de Lange syndrome

4 April 2020

main subject

1 reference

based on heuristic

inferred from title

author

Paulino Gómez-Puertas

11

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4 April 2020

Carolina Baquero-Montoya

6

object named as

Carolina Baquero-Montoya

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author name string

Juan Pié

1

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Beatriz Puisac

2

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Maria Hernández-Marcos

3

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4 April 2020

Maria Esperanza Teresa-Rodrigo

4

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Maria Gil-Rodríguez

5

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Maria Ramos-Cáceres

7

1 reference

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Maria Bernal

8

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Ariadna Ayerza-Casas

9

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Inés Bueno

10

1 reference

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Feliciano J Ramos

12

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publication date

10 May 2016

1 reference

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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

172

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issue

2

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page(s)

198-205

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Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.

4 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

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%2FAJMG.C.31501

Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Complex small supernumerary marker chromosomes - an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Cohesin and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Cohesin: functions beyond sister chromatid cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

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%2FAJMG.C.31501

Clinical utility gene card for: Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Identification of a "cryptic mosaicism" involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

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%2FAJMG.C.31501

Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Alternative splicing and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

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%2FAJMG.C.31501

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%2FAJMG.C.31501

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Mechanisms and consequences of somatic mosaicism in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31501

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31501

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27164022%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

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