(Q48212743)

9 February 2018

title

Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. (English)

1 reference

9 February 2018

author name string

Schutte BC

1

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9 February 2018

Basart AM

2

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9 February 2018

Watanabe Y

3

1 reference

9 February 2018

Laffin JJ

4

1 reference

9 February 2018

Coppage K

5

1 reference

9 February 2018

Bjork BC

6

1 reference

9 February 2018

Daack-Hirsch S

7

1 reference

9 February 2018

Patil S

8

1 reference

9 February 2018

Dixon MJ

9

1 reference

9 February 2018

Murray JC

10

1 reference

9 February 2018

publication date

1 May 1999

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9 February 2018

American Journal of Medical Genetics Part A

published in

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9 February 2018

volume

84

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9 February 2018

issue

2

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9 February 2018

page(s)

145-150

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9 February 2018

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

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Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

21 January 2018

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

21 January 2018

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Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

21 January 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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Maternal alcohol use and risk of orofacial cleft birth defects

21 January 2018

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Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

21 January 2018

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21 January 2018

PAX6 mutations reviewed

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

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The mechanisms involved in formation of deletions and duplications of 15q11-q13.

21 January 2018

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Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.

21 January 2018

1 reference

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Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41.

21 January 2018

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Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)

21 January 2018

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Lip pits and deletion 1q32----41

21 January 2018

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Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

21 January 2018

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Delta-beta-thalassemia is due to a gene deletion

21 January 2018

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The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion

21 January 2018

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Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia

21 January 2018

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Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19990521)84:2<145::AID-AJMG11>3.0.CO;2-L

21 January 2018

Identifiers

DOI

1 reference

9 February 2018

PubMed ID

10323740

1 reference

9 February 2018