(Q52101982)

22 April 2018

title

A novel 5q35.3 subtelomeric deletion syndrome. (English)

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22 April 2018

André Reis

6

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Anita Rauch

1

object named as

Anita Rauch

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22 April 2018

author name string

Maike Beese

2

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22 April 2018

Ertan Mayatepek

3

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22 April 2018

Helmut-Günther Dörr

4

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22 April 2018

Dieter Wenzel

5

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22 April 2018

Udo Trautmann

7

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22 April 2018

language of work or name

English

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publication date

1 August 2003

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22 April 2018

American Journal of Medical Genetics

published in

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22 April 2018

volume

121A

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22 April 2018

issue

1

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22 April 2018

page(s)

1-8

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22 April 2018

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20173

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

21 January 2018

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Sotos syndrome: a study of the diagnostic criteria and natural history

21 January 2018

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NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

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Hereditary lymphedema: evidence for linkage and genetic heterogeneity

21 January 2018

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A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.20173

RACK1 is an insulin-like growth factor 1 (IGF-1) receptor-interacting protein that can regulate IGF-1-mediated Akt activation and protection from cell death

21 January 2018

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An optimized set of human telomere clones for studying telomere integrity and architecture.

21 January 2018

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Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.20173

Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome

21 January 2018

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A severely affected infant with absence of cysteinyl leukotrienes in cerebrospinal fluid: further evidence that leukotriene C4-synthesis deficiency is a new neurometabolic disorder.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.20173

A novel 22q11.2 microdeletion in DiGeorge syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.20173

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.20173

Distal 5q deletion syndrome: phenotypic correlations

21 January 2018

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Congenital heart disease caused by mutations in the transcription factor NKX2-5

21 January 2018

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21 January 2018

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5q-, twenty-five years later: a synopsis

21 January 2018

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Monosomy 1p36--a recently delineated, clinically recognizable syndrome

21 January 2018

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A case of de novo interstitial deletion of chromosome 5(q33q34).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20173

Characterization of 5q deletions by subtelomeric probes and spectral karyotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20173

Cryptic translocation t(5;11)(q35;p15.5) with involvement of the NSD1 and NUP98 genes without 5q deletion in childhood acute myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20173

Ventricular noncompaction and distal chromosome 5q deletion

21 January 2018

1 reference

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Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20173

1 reference

22 April 2018

1 reference

22 April 2018