Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes (Q41406072)

30 September 2017

Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes (English)

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30 September 2017

T A Donlon

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30 September 2017

1 December 1988

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30 September 2017

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30 September 2017

80

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30 September 2017

322-328

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https://scigraph.springernature.com/pub.10.1007/bf00273644

30 September 2017

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cites work

Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the apo AI and apo CIII genes

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00273644

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00273644

Deletions of proximal 15q without Prader-Willi syndrome.

21 January 2018

1 reference

12 December 2020

Genetic analysis of the proximal portion of the mouse t complex: evidence for a second inversion within t haplotypes

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12 December 2020

A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination

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12 December 2020

Familial Prader-Willi syndrome

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12 December 2020

Familial Prader-Willi syndrome with apparently normal chromosomes

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12 December 2020

A strategy to reveal high-frequency RFLPs along the human X chromosome

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12 December 2020

Recurrence risk in the Angelman ("happy puppet") syndrome

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12 December 2020

Cytogenetic and clinical studies in five cases of inv dup(15)

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12 December 2020

Duplication of proximal 15q as a cause of Prader-Willi syndrome.

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12 December 2020

Prader-Willi syndrome and a bisatellited derivative of chromosome 15

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12 December 2020

The Angelman (Happy Puppet) syndrome: is it autosomal recessive?

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12 December 2020

Inversion in the H–2 complex of t-haplotypes in mice

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12 December 2020

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

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12 December 2020

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

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12 December 2020

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

1 reference

12 December 2020

A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

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12 December 2020

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

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12 December 2020

Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis

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12 December 2020

Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center.

1 reference

12 December 2020

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

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12 December 2020

Is Angelman syndrome an alternate result of del(15)(q11q13)?

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12 December 2020

Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes

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12 December 2020

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

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12 December 2020

Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus

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12 December 2020

Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion

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12 December 2020

Nonhomologous pairing in mice heterozygous for a t haplotype can produce recombinant chromosomes with duplications and deletions

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12 December 2020

Forty four probands with an additional "marker" chromosome.

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12 December 2020

A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)

1 reference

12 December 2020

Single-copy inverted repeats associated with regional genetic duplications in gamma fibrinogen and immunoglobulin genes.

1 reference

12 December 2020

Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15

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12 December 2020

Proximal 15q variant with normal phenotype in three unrelated individuals

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12 December 2020

Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome?

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12 December 2020

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

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12 December 2020

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases

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12 December 2020

Analysis of an inversion within the human beta globin gene cluster

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12 December 2020

Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes

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12 December 2020

Prenatal detection of an accessory chromosome identified as an inversion duplication (15)

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12 December 2020

Identification of inverted duplicated #15 chromosomes using bivariate flow cytometric analysis

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12 December 2020

Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family

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12 December 2020

Gene mapping within the T/t complex of the mouse. II. Anomalous position of the H-2 complex in t haplotypes

1 reference

12 December 2020

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

1 reference

12 December 2020

Unusual sequences in the murine immunoglobulin mu-delta heavy-chain region.

1 reference

12 December 2020

Proximal duplications of chromosome 15: clinical dilemmas

1 reference

12 December 2020

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00273644

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PubMed ID

3198109

Dimensions Publication ID

30 September 2017

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1 reference

PubMed ID

3198109