Literature DB >> 12471208

Relationship between clinical and genetic diagnosis of Prader-Willi syndrome.

J Whittington, A Holland, T Webb, J Butler, D Clarke, H Boer.   

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Year:  2002        PMID： 12471208      PMCID： PMC1757230          DOI： 10.1136/jmg.39.12.926

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


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  5 in total

1.  Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter.

Authors:  Esther N Maina; Tessa Webb; Sarita Soni; Joyce Whittington; Harm Boer; David Clarke; Anthony Holland
Journal:  J Hum Genet       Date:  2007-01-30       Impact factor: 3.172

2.  Effects of exenatide on weight and appetite in overweight adolescents and young adults with Prader-Willi syndrome.

Authors:  P Salehi; I Hsu; C G Azen; S D Mittelman; M E Geffner; D Jeandron
Journal:  Pediatr Obes       Date:  2016-04-13       Impact factor: 4.000

3.  ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.

Authors:  Sarah F Barclay; Casey M Rand; Lisa Nguyen; Richard J A Wilson; Rachel Wevrick; William T Gibson; N Torben Bech-Hansen; Debra E Weese-Mayer
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123

4.  Single-Case Study of Appetite Control in Prader-Willi Syndrome, Over 12-Years by the Indian Extract Caralluma fimbriata.

Authors:  Joanne Griggs
Journal:  Genes (Basel)       Date:  2019-06-12       Impact factor: 4.096

5.  Hypogonadism in Women with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion.

Authors:  Karlijn Pellikaan; Yassine Ben Brahim; Anna G W Rosenberg; Kirsten Davidse; Christine Poitou; Muriel Coupaye; Anthony P Goldstone; Charlotte Høybye; Tania P Markovic; Graziano Grugni; Antonino Crinò; Assumpta Caixàs; Talia Eldar-Geva; Harry J Hirsch; Varda Gross-Tsur; Merlin G Butler; Jennifer L Miller; Paul-Hugo M van der Kuy; Sjoerd A A van den Berg; Jenny A Visser; Aart J van der Lely; Laura C G de Graaff
Journal:  J Clin Med       Date:  2021-12-10       Impact factor: 4.241
  5 in total

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