Literature DB >> 3608219

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

M Baraitser, M Patton, S T Lam, E M Brett, J Wilson.   

Abstract

We report seven cases of Angelman's syndrome from three families. Recurrence risks are not small, as previously suggested.

Entities:  

Mesh：

Year:  1987        PMID： 3608219     DOI： 10.1111/j.1399-0004.1987.tb02816.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  13 in total

1.  Angelman's syndrome.

Authors:  J Clayton-Smith
Journal:  Arch Dis Child       Date:  1992-07       Impact factor: 3.791

2.  Angelman's syndrome: a neuropathological study.

Authors:  T Kyriakides; L A Hallam; A Hockey; P Silberstein; B A Kakulas
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

3.  Angelman's syndrome.

Authors:  I Scheffer; E M Brett; J Wilson; M Baraitser
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

4.  The association of Angelman's syndrome with deletions within 15q11-13.

Authors:  M Pembrey; S J Fennell; J van den Berghe; M Fitchett; D Summers; L Butler; C Clarke; M Griffiths; E Thompson; M Super
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

5.  The 'happy puppet' syndrome of Angelman: review of the clinical features.

Authors:  S A Robb; K R Pohl; M Baraitser; J Wilson; E M Brett
Journal:  Arch Dis Child       Date:  1989-01       Impact factor: 3.791

6.  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

Review 7.  Angelman ("happy puppet") syndrome--seven new cases documented by cerebral computed tomography: review of the literature.

Authors:  A Dörries; H L Spohr; J Kunze
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

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

Authors:  J Beuten; K Mangelschots; I Buntinx; P Coucke; O F Brouwer; R C Hennekam; C Van Broeckhoven; P J Willems
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132

9.  Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Authors:  A Moncla; P Malzac; M O Livet; M A Voelckel; J Mancini; J C Delaroziere; N Philip; J F Mattei
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

10.  Linkage analysis in familial Angelman syndrome.

Authors:  J Wagstaff; Y Y Shugart; M Lalande
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.