Literature DB >> 9295086

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?

M G Butler, L K Hedges, P K Rogan, J R Seip, S B Cassidy, J B Moeschler.   

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Year:  1997        PMID： 9295086      PMCID： PMC6025896     

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  11 in total

1.  The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

Authors:  M J Mascari; W Gottlieb; P K Rogan; M G Butler; D A Waller; J A Armour; A J Jeffreys; R L Ladda; R D Nicholls
Journal:  N Engl J Med       Date:  1992-06-11       Impact factor: 91.245

2.  [Prader-Labhart-Willi syndrome with 47,XXX karyotype. Etio-pathogenetic considerations].

Authors:  E Ferrante; V Brinchi; P Marioni; F Galletti
Journal:  Minerva Pediatr       Date:  1986-04-30       Impact factor: 1.312

3.  The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases.

Authors:  H G Dunn
Journal:  Acta Paediatr Scand       Date:  1968

4.  Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.

Authors:  M G Butler; F J Meaney; C G Palmer
Journal:  Am J Med Genet       Date:  1986-03

5.  Molecular and cytogenetic studies of the Prader-Willi syndrome.

Authors:  R J Trent; F Volpato; A Smith; R Lindeman; M K Wong; G Warne; E Haan
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

6.  Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994.

Authors:  S Malcolm; T A Donlon
Journal:  Cytogenet Cell Genet       Date:  1994

7.  Psychopharmacogenetic aspects of Prader-Willi syndrome.

Authors:  J B Tu; C Hartridge; J Izawa
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  1992-11       Impact factor: 8.829

Review 8.  The Prader-Willi syndrome: a study of 40 patients and a review of the literature.

Authors:  G A Bray; W T Dahms; R S Swerdloff; R H Fiser; R L Atkinson; R E Carrel
Journal:  Medicine (Baltimore)       Date:  1983-03       Impact factor: 1.889

9.  Prader-Willi syndrome: current understanding of cause and diagnosis.

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1990-03

10.  Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome.

Authors:  L W Lai; R P Erickson; S B Cassidy
Journal:  Am J Dis Child       Date:  1993-11
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  2 in total

Review 1.  Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Authors:  Dai Yang-Li; Luo Fei-Hong; Zhang Hui-Wen; Ma Ming-Sheng; Luo Xiao-Ping; Liu Li; Wang Yi; Zhou Qing; Jiang Yong-Hui; Zou Chao-Chun
Journal:  Orphanet J Rare Dis       Date:  2022-06-13       Impact factor: 4.303

2.  Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Authors:  Yuri A Zarate; Katherine A Bosanko; Elizabeth Bhoj; Rebecca Ganetzky; Lois J Starr; Elaine H Zackai; G Bradley Schaefer
Journal:  Am J Med Genet A       Date:  2015-04-25       Impact factor: 2.802
  2 in total

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