(Q46877435)

title

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

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26 December 2017

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11

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Ana Losada

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26 December 2017

Juan Pié

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J Pié

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Feliciano J Ramos

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F J Ramos

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26 December 2017

author name string

C Baquero-Montoya

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26 December 2017

M C Gil-Rodríguez

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26 December 2017

M E Teresa-Rodrigo

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26 December 2017

M Hernández-Marcos

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26 December 2017

G Bueno-Lozano

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26 December 2017

I Bueno-Martínez

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26 December 2017

S Remeseiro

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26 December 2017

R Fernández-Hernández

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26 December 2017

M Bassecourt-Serra

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26 December 2017

M Rodríguez de Alba

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26 December 2017

B Puisac

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26 December 2017

publication date

17 June 2013

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26 December 2017

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volume

85

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26 December 2017

page(s)

446-451

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26 December 2017

issue

5

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26 December 2017

Cornelia de Lange syndrome, cohesin, and beyond

cites work

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

21 January 2018

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

21 January 2018

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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

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

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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RAD21 mutations cause a human cohesinopathy

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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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

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A unique role of cohesin-SA1 in gene regulation and development

21 January 2018

1 reference

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

21 January 2018

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A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX

21 January 2018

1 reference

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

21 January 2018

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

21 January 2018

1 reference

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

21 January 2018

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Autism-associated familial microdeletion of Xp11.22

21 January 2018

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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

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

21 January 2018

1 reference

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

21 January 2018

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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

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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

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21 January 2018

Identifiers

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26 December 2017

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26 December 2017