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Literature DB >> 1346439

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene.

S Saitoh, T Kubota, T Ohta, Y Jinno, N Niikawa, T Sugimoto, J Wagstaff, M Lalande.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Receptors, GABA-A

Year: 1992 PMID： 1346439 DOI： 10.1016/0140-6736(92)91686-3

Source DB: PubMed Journal: Lancet ISSN： 0140-6736 Impact factor: 79.321

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Cited

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25 in total

1. Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography.

Authors: I Odano; T Anezaki; M Ohkubo; Y Yonekura; Y Onishi; T Inuzuka; M Takahashi; S Tsuji
Journal: Eur J Nucl Med Date: 1996-05

2. Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

Authors: L W Burke; J E Wiley; C C Glenn; D J Driscoll; K M Loud; A J Smith; T Kushnick
Journal: Am J Hum Genet Date: 1996-04 Impact factor: 11.025

3. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Authors: V Greger; J H Knoll; J Wagstaff; E Woolf; P Lieske; H Glatt; P A Benn; S S Rosengren; M Lalande
Journal: Am J Hum Genet Date: 1997-03 Impact factor: 11.025

4. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

Authors: S L Christian; W P Robinson; B Huang; A Mutirangura; M R Line; M Nakao; U Surti; A Chakravarti; D H Ledbetter
Journal: Am J Hum Genet Date: 1995-07 Impact factor: 11.025

10. Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination.

Authors: W P Robinson; R Spiegel; A A Schinzel
Journal: Hum Genet Date: 1993-03 Impact factor: 4.132

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene.

1. Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography.

2. Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

3. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

4. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

5. DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

6. Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice.

7. Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

8. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Review 9. GABA effects during neuronal differentiation of stem cells.

10. Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination.