Angelman Bibliography

IBIS: International Birth Defects Information Systems - Home Page

About I.B.I.S.
Home
Search Topics
Search all contents

Standards


"In the News"

Messages...
Questions/comments
Report Dead Links
Disclaimer

 S.O.S. - Exchange

Join I.B.I.S.

Genetics Birth Defects Center

Ukrainian-American Birth Defects Program
Pandora's Word Box
Medical Etymology
MedWord
Birth Defects
Gallery - Music
Books - Old Maps - Etchings

 


Contribute to 
S.O.S. - BiblioFile
Submit References
S.O.S. - BiblioFile
Prime references
A collection of nearly 30,000 prime reprints
Angelman Syndrome
(Searches can be focused narrowly: eg Angelman)
Reprint request here
Requests for other Bibliography
Last Search run on 5 Jun 2000, at 10:35
Full bibliographies are emailed by request 

10 "Oldest" Classic References

2936. Elian,M (1975): Fourteen happy puppets: Two new cases and a review. Clin. Pediatr. 14(10), 902-908.

2937. Kuroki,Y; Matsui,I; Yamamato,Y; Ieshima,A (1980): The "happy puppet" syndrome in two siblings. Hum. Genet. 56, 227-229.

3634. Williams,CA; Frias,JL (1982): The Angelman (happy puppet) syndrome. Am. J. Med. Genet. 11, 453-460.

3630. Baraitser,M; Patton,M; Lam,STS; Brett,EM; Wilson,J (1987): The Angelman (happy puppet) syndrome: Is it autosomal recessive? Clin. Genet. 31, 323-330.

3632. Fisher,JA; Burn,J; Alexander,FW; Gardner-Medwin,D (1987): Angelman (happy puppet) syndrome in a girl and her brother. J. Med. Genet. 24, 294.

3633. Willems,PJ; Dijkstra,I; Brouwer,OF; Smit,GPA (1987): Recurrence risk in the Angelman (happy puppet) syndrome. Am. J. Med. Genet. 27, 773.

4107. Kaplan,LC; Wharton,R; Elias,E; Mandell,F; Donlon,T; Latt,SA (1987): Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance. Am. J. Med. Genet. 28(1, Sep), 45-53.

3631. Boyd,SG; Harden,A; Patton,MA (1988): The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur. J. Pediatr. 147, 508.

17125. Schinzel,A (1988): Microdeletion syndromes, balanced translocations, and gene mapping. J. Med. Genet. 25, 454-462.

3114. Nicholls,RD; Knoll,JH; Glatt,K; Hersh,JH; Brewster,TD; Graham,JM Jr; Wurster-Hill,D; Wharton,R; Latt,SA (1989): Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenesis and the Prader-Willi syndrome. Am. J. Med. Genet. 33, 66-77.



Files Deleted - Restart with recent 10 ...

18418. Monaghan,KG; Van Dyke,DL; Feldman,G; Wiktor,A; Weiss,L (1997): Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes. Am. J. Hum. Genet. 60, 244-247.

11634. Lalande,M (1997): Parental imprinting and human disease. Annual Review of Genetics 30, 173-195.

21400. Greenberg,F (1996): Contiguous gene syndromes. From Growth, Genetics, and Hormones. No reference information available.

12196. Malcom,S (1996): Microdeletion and microduplication syndromes. Prenat. Diagn. 16, 1213-1219.

19837. Schaefer,GB; Rosenbloom,AL; Guevara-Aguirre,J; Campbell,EA; Ullrich,F; Patil,K; Frias,JL (1994): Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome. J. Med. Genet. 31, 635-639.

20129. Greenberg,F (1993): Contiguous gene syndrome. Growth Genet. Horm. 9, 5-10.

20073. Robinson,WP; Bernasconi,F; Mutirangura,A; Ledbetter,DH; Langlois,S; Malcolm,S; Morris,MA; Schinzel,AA (1993): Nondisjunction of chromosome 14: origin and recombination. Am. J. Hum. Genet. 53, 740-751.

15910. Nicholls,RD; Pai,GS; Gottlieb,W; Cant£,ES (1992): Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann. Neurol. 32, 512-518.

14931. Schinzel,A; Robinson,WP; Bottani,A; Yagang,X; Prader,A (1992): Prader-Willi or Angelman syndrome in familial 15q11-q13 deletion of maternal origin? Hum. Genet. 88, 361-362.

14359. Smeets,DFCM; Hamel,BCJ; Nelen,MR; Smeets,HJM; Bollen,JHM; Smits,APT; Ropers,H-H; Oost,BA van (1992): Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N. Engl. J. Med. 326(12), 807-811.

Reprint request here
Requests for other Bibliography


IBIS:International Birth Defects Information Systems

This site offers information mostly for educational purposes. This site is not intended to alter health care protocols nor to serve  as a sole source of  medical information.  Please read full disclaimer. Always seek the advice of your local health care provider.

Copyright 1998 - 2002 I.B.I.S. All rights reserved.
Sponsor: I.B.I.S. | Site Concept: W. W., D. C. | Page Content: W. Wertelecki, M. D.
Email: Webmaster

  02953234  
21/January/2002 dc