Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. (Q40216210)

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2 March 2020

title

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26663098%20AND%20SRC:MED&resulttype=core&format=json

Cornelia de Lange syndrome

2 March 2020

main subject

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1

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2 March 2020

author name string

L Wolf

2

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2 March 2020

M Orin

3

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2 March 2020

L Larizza

4

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2 March 2020

C Gervasini

5

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I D Krantz

6

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M A Deardoff

7

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publication date

25 January 2016

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2 March 2020

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volume

89

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issue

5

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2 March 2020

page(s)

557-563

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

2 March 2020

cites work

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Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

21 January 2018

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Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

21 January 2018

1 reference

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

21 January 2018

1 reference

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

21 January 2018

1 reference

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

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

21 January 2018

1 reference

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

21 January 2018

1 reference

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

21 January 2018

1 reference

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

Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: illuminating the developmental relationship to risk for psychosis.

21 January 2018

1 reference

Facial dysmorphism across the fetal alcohol spectrum

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12716

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2 March 2020

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