(Q41922979)

14 October 2017

title

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome (English)

1 reference

14 October 2017

6

Gregg L Semenza

1 reference

14 October 2017

Colyn B Cargile

1

1 reference

14 October 2017

Denise L-M Goh

2

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14 October 2017

Barbara K Goodman

3

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14 October 2017

Xiao-Ning Chen

4

1 reference

14 October 2017

Julie R Korenberg

5

1 reference

14 October 2017

George H Thomas

7

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14 October 2017

publication date

1 April 2002

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American Journal of Medical Genetics Part A

14 October 2017

published in

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14 October 2017

volume

109

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14 October 2017

issue

2

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14 October 2017

page(s)

133-138

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CALL gene is haploinsufficient in a 3p- syndrome patient

14 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Detailed mapping of a congenital heart disease gene in chromosome 3p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Identification of the von Hippel-Lindau disease tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Clinical and molecular analyses of deletion 3p25-pter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Molecular genetic analysis of the 3p- syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Mother and son with deletion of 3p25-pter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Partial deletion of the short arm of chromosome 3 (3p25----3pter). Further delineation of the clinical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Partial deletion of the short arm of chromosome 3: further delineation of the 3p25-3pter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

A Patient With a Partial Deletion of the Short Arm of Chromosome 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10323

Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome

21 January 2018

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1002/AJMG.10323

Identifiers

DOI

10.1002/AJMG.10323

1 reference

14 October 2017

1 reference