(Q51947227)

18 April 2018

title

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. (English)

1 reference

18 April 2018

1 reference

8

John M Opitz

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18 April 2018

Jeannie Visootsak

2

object named as

Jeannie Visootsak

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18 April 2018

author name string

John M Graham

1

1 reference

18 April 2018

Elisabeth Dykens

3

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18 April 2018

Lillie Huddleston

4

1 reference

18 April 2018

Robin D Clark

5

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18 April 2018

Kenneth L Jones

6

1 reference

18 April 2018

John B Moeschler

7

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18 April 2018

Jackie Morford

9

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18 April 2018

Richard Simensen

10

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18 April 2018

R Curtis Rogers

11

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18 April 2018

Charles E Schwartz

12

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18 April 2018

Michael J Friez

13

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18 April 2018

Roger E Stevenson

14

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18 April 2018

language of work or name

English

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publication date

1 December 2008

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18 April 2018

American Journal of Medical Genetics

published in

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18 April 2018

volume

146A

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18 April 2018

issue

23

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18 April 2018

page(s)

3011-3017

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18 April 2018

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Psychopharmacology in fragile X syndrome--present and future

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Behavioral phenotype of individuals with Down syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Clinical and behavioral characteristics in FG syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

FG syndrome: report of three new families with linkage to Xq12-q22.1.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

A gene for FG syndrome maps in the Xq12-q21.31 region.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

The FG syndrome: Further characterization, report of a third family, and of a sporadic case

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3092600

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG 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=3092600

Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18973276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32553

1 reference

18 April 2018

PMCID

3092600

1 reference

18 April 2018

PubMed ID

18973276

1 reference

18 April 2018