(Q34296411)

1 August 2017

title

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

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Cornelia de Lange syndrome

1 August 2017

main subject

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Feliciano J Ramos

9

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Jolanta Wierzba

1

object named as

Jolanta Wierzba

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1 August 2017

10

Janusz Limon

1 reference

1 August 2017

author name string

María Concepción Gil-Rodríguez

2

1 reference

1 August 2017

Anna Polucha

3

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1 August 2017

Beatriz Puisac

4

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1 August 2017

María Arnedo

5

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1 August 2017

María Esperanza Teresa-Rodrigo

6

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1 August 2017

Dorota Winnicka

7

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1 August 2017

Fausto G Hegardt

8

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1 August 2017

Juan Pié

11

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1 August 2017

publication date

7 June 2012

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1 August 2017

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1 August 2017

volume

13

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1 August 2017

page(s)

43

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https://scigraph.springernature.com/pub.10.1186/1471-2350-13-43

1 August 2017

exact match

0 references

cites work

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

Sister chromatid cohesion control and aneuploidy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

Cornelia de Lange syndrome, cohesin, and beyond

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

Recommendations for the diagnosis and management of Turner syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

Anterior segment dysgenesis in mosaic Turner syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458943

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-43

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-43

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-43

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-43

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-43

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-43

Recommendations for the Diagnosis and Management of Turner Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-43

Epidemiological, endocrine and metabolic features in Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-43

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

21 January 2018

1 reference

12 December 2020

In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome

1 reference

12 December 2020

[XY-XO mosaicism in a case of Cornelia De Lange syndrome]

1 reference

12 December 2020

On the problem of the De Lange's syndrome

1 reference

12 December 2020

Chromosomes in the Cornelia de Lange syndrome

1 reference

12 December 2020

Brachmann-de Lange syndrome. Delineation of the clinical phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-13-43

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Dimensions Publication ID

1 August 2017

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1 August 2017

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