(Q50301664)

2 March 2018

title

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization (English)

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2 March 2018

author

Gabriela M Repetto

1

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2 March 2018

author name string

White LM

2

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2 March 2018

Bader PJ

3

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2 March 2018

Johnson D

4

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2 March 2018

Knoll JH

5

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2 March 2018

publication date

1 September 1998

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2 March 2018

American Journal of Medical Genetics Part A

published in

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2 March 2018

volume

79

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2 March 2018

issue

2

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2 March 2018

page(s)

82-89

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2 March 2018

XISTExpression and X-Chromosome Inactivation in Human Preimplantation Embryos

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of single-yeast-colony PCR and multiple labeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Molecular mechanisms in Angelman syndrome: a survey of 93 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Absence of predictable phenotypic expression in proximal 15q duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Intrachromosomal triplication of 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

The Human γ-Aminobutyric Acid Receptor Subunit β3 and α5 Gene Cluster in Chromosome 15q11-q13 Is Rich in Highly Polymorphic (CA)n Repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C82%3A%3AAID-AJMG2%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19980901)79:2<82::AID-AJMG2>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

2 March 2018

1 reference

2 March 2018