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Literature DB >> 2777263

On the parental origin of the deletion in Angelman syndrome.

J H Knoll, R D Nicholls, M Lalande.

Abstract

Entities: Disease

Mesh：

Year: 1989 PMID： 2777263 DOI： 10.1007/BF00286723

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

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6 in total

1. Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry.

Authors: A Cooke; J L Tolmie; F J Glencross; E Boyd; M M Clarke; R Day; J B Stephenson; J M Connor
Journal: Am J Med Genet Date: 1989-04

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

Authors: T A Donlon
Journal: Hum Genet Date: 1988-12 Impact factor: 4.132

3. Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.

Authors: R D Nicholls; J H Knoll; K Glatt; J H Hersh; T D Brewster; J M Graham; D Wurster-Hill; R Wharton; S A Latt
Journal: Am J Med Genet Date: 1989-05

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

Authors: J H Knoll; R D Nicholls; R E Magenis; J M Graham; M Lalande; S A Latt
Journal: Am J Med Genet Date: 1989-02

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

Authors: L C Kaplan; R Wharton; E Elias; F Mandell; T Donlon; S A Latt
Journal: Am J Med Genet Date: 1987-09

6. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

Authors: A P Jarman; R D Nicholls; D J Weatherall; J B Clegg; D R Higgs
Journal: EMBO J Date: 1986-08 Impact factor: 11.598

6 in total

11 in total

1. Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.

Authors: Gustavo Martínez-Noël; Jeffrey T Galligan; Mathew E Sowa; Verena Arndt; Thomas M Overton; J Wade Harper; Peter M Howley
Journal: Mol Cell Biol Date: 2012-05-29 Impact factor: 4.272

2. Angelman syndrome.

Authors: J Clayton-Smith; M E Pembrey
Journal: J Med Genet Date: 1992-06 Impact factor: 6.318

3. Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

Authors: O W Quarrell; R G Snell; M A Curtis; S H Roberts; P S Harper; D J Shaw
Journal: J Med Genet Date: 1991-04 Impact factor: 6.318

4. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Authors: T Sahoo; S U Peters; N S Madduri; D G Glaze; J R German; L M Bird; R Barbieri-Welge; T J Bichell; A L Beaudet; C A Bacino
Journal: J Med Genet Date: 2005-09-23 Impact factor: 6.318

On the parental origin of the deletion in Angelman syndrome.

1. Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry.

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

3. Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.

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

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

6. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

1. Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.

2. Angelman syndrome.

3. Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

4. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

5. Molecular study of chromosome 15 in 22 patients with Angelman syndrome.

6. Parent-of-origin effects of the serotonin transporter gene associated with autism.

Review 7. Angelman syndrome and melatonin: What can they teach us about sleep regulation.

8. A molecular and cytogenetic study in Finnish Prader-Willi patients.

9. A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.

10. Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.