(Q55053027)

16 June 2018

title

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

1 reference

16 June 2018

author name string

Sarika Rohatgi

1

1 reference

16 June 2018

Dinah Clark

2

1 reference

16 June 2018

Antonie D Kline

3

1 reference

16 June 2018

Laird G Jackson

4

1 reference

16 June 2018

Juan Pie

5

1 reference

16 June 2018

Victoria Siu

6

1 reference

16 June 2018

Feliciano J Ramos

7

1 reference

16 June 2018

Ian D Krantz

8

1 reference

16 June 2018

Matthew A Deardorff

9

1 reference

16 June 2018

language of work or name

English

0 references

publication date

1 July 2010

1 reference

16 June 2018

American Journal of Medical Genetics

published in

1 reference

16 June 2018

volume

152A

1 reference

16 June 2018

issue

7

1 reference

16 June 2018

page(s)

1641-1653

1 reference

16 June 2018

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

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

The structure and function of SMC and kleisin complexes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

de Lange syndrome: a clinical review of 310 individuals

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

Cornelia de Lange syndrome--photo essay.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

Definition and diagnosis of the Brachmann-De Lange syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133091

Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20583156

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20583156

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Brachmann-de Lange syndrome. Delineation of the clinical phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20583156

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33441

1 reference

16 June 2018

PMCID

4133091

1 reference

16 June 2018

PubMed ID

20583156

1 reference

16 June 2018