Literature DB >> 1619637

Angelman syndrome.

J Clayton-Smith1, M E Pembrey.   

Abstract

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Year:  1992        PMID： 1619637      PMCID： PMC1015993          DOI： 10.1136/jmg.29.6.412

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

1.  Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons.

Authors:  C A Williams; B A Gray; J E Hendrickson; J W Stone; E S Cantú
Journal:  Am J Med Genet       Date:  1989-03

2.  Angelman's syndrome.

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

3.  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

4.  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

5.  DNA deletion and its parental origin in Angelman syndrome patients.

Authors:  J Hamabe; Y Kuroki; K Imaizumi; T Sugimoto; Y Fukushima; A Yamaguchi; Y Izumikawa; N Niikawa
Journal:  Am J Med Genet       Date:  1991-10-01

6.  Uniparental paternal disomy in Angelman's syndrome.

Authors:  S Malcolm; J Clayton-Smith; M Nichols; S Robb; T Webb; J A Armour; A J Jeffreys; M E Pembrey
Journal:  Lancet       Date:  1991-03-23       Impact factor: 79.321

7.  The "happy puppet" syndrome.

Authors:  B D Bower; P M Jeavons
Journal:  Arch Dis Child       Date:  1967-06       Impact factor: 3.791

8.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

Authors:  A O Wilkie; H C Zeitlin; R H Lindenbaum; V J Buckle; N Fischel-Ghodsian; D H Chui; D Gardner-Medwin; M H MacGillivray; D J Weatherall; D R Higgs
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

9.  The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

Authors:  S G Boyd; A Harden; M A Patton
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

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

Authors:  J H Knoll; R D Nicholls; R E Magenis; K Glatt; J M Graham; L Kaplan; M Lalande
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025
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  37 in total

1.  Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

Authors:  H L Gilbert; J L Buxton; C T Chan; T McKay; S Cottrell; S Ramsden; R M Winter; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  The mechanisms involved in formation of deletions and duplications of 15q11-q13.

Authors:  W P Robinson; F Dutly; R D Nicholls; F Bernasconi; M Peñaherrera; R C Michaelis; D Abeliovich; A A Schinzel
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

3.  A boy with developmental delay and a maternally inherited deletion in 15q11q13.

Authors:  M King; C Hardy; B Asenbauer; M Kilpatrick; T Webb
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

Review 4.  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Authors:  Renzo Guerrini; Romeo Carrozzo; Roberta Rinaldi; Paolo Bonanni
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.022

5.  Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

Authors:  A Mutirangura; F Greenberg; M G Butler; S Malcolm; R D Nicholls; A Chakravarti; D H Ledbetter
Journal:  Hum Mol Genet       Date:  1993-02       Impact factor: 6.150

6.  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

7.  Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

Authors:  A Smith; M Prasad; Z M Deng; L Robson; T Woodage; R J Trent
Journal:  Arch Dis Child       Date:  1995-05       Impact factor: 3.791

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

Authors:  A M van den Ouweland; M N van der Est; E Wesby-van Swaay; T S Tijmensen; F J Los; J O Van Hemel; R C Hennekam; H J Meijers-Heijboer; M F Niermeijer; D J Halley
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

9.  Imprinting-mutation mechanisms in Prader-Willi syndrome.

Authors:  T Ohta; T A Gray; P K Rogan; K Buiting; J M Gabriel; S Saitoh; B Muralidhar; B Bilienska; M Krajewska-Walasek; D J Driscoll; B Horsthemke; M G Butler; R D Nicholls
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

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

Authors:  T Ohta; K Buiting; H Kokkonen; S McCandless; S Heeger; H Leisti; D J Driscoll; S B Cassidy; B Horsthemke; R D Nicholls
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
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