Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome (Q34169407)

31 July 2017

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome (English)

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31 July 2017

2

Tawfeg Ben-Omran

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31 July 2017

Natascia Anastasio

1

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31 July 2017

Ahmad Teebi

3

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31 July 2017

Kevin C H Ha

4

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31 July 2017

Emilie Lalonde

5

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31 July 2017

Rehab Ali

6

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31 July 2017

Mariam Almureikhi

7

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31 July 2017

Vazken M Der Kaloustian

8

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31 July 2017

Junhui Liu

9

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31 July 2017

David S Rosenblatt

10

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31 July 2017

Jacek Majewski

11

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31 July 2017

Loydie A Jerome-Majewska

12

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31 July 2017

language of work or name

English

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publication date

1 October 2010

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American Journal of Human Genetics

31 July 2017

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31 July 2017

87

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31 July 2017

553-559

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31 July 2017

4

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Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Targeted capture and massively parallel sequencing of 12 human exomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

The Sequence Alignment/Map format and SAMtools

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Fast and accurate short read alignment with Burrows-Wheeler transform

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Execution of nonsense-mediated mRNA decay: what defines a substrate?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

PLINK: a tool set for whole-genome association and population-based linkage analyses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

The mouse Gene Expression Database (GXD): 2007 update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Global analysis of differentially expressed genes in oxidized LDL-treated human aortic smooth muscle cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

SREC-II, a new member of the scavenger receptor type F family, trans-interacts with SREC-I through its extracellular domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Congenital contractural arachnodactyly in two double second cousins: possible homozygosity.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948800

Further delineation of the Van den Ende-Gupta syndrome

28 October 2018

1 reference

12 December 2020

Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage

1 reference

12 December 2020

Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): clinical and autopsy findings

1 reference

12 December 2020

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures

1 reference

12 December 2020

Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings

1 reference

12 December 2020

van den Ende-Gupta syndrome: evidence for genetic heterogeneity

1 reference

12 December 2020

10.1016/J.AJHG.2010.09.005

Identifiers

DOI

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31 July 2017

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31 July 2017

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