Literature DB >> 7837263

The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis.

B B De Vries, M F Niermeijer.   

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Year:  1994        PMID： 7837263      PMCID： PMC1050136          DOI： 10.1136/jmg.31.10.820

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


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  2 in total

1.  Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

Authors:  G Gillessen-Kaesbach; B Horsthemke
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

2.  Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

Authors:  B B de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; J O van Hemel; B A Oostra; D J Halley; M F Niermeijer
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318
  2 in total
  9 in total

1.  Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome.

Authors:  C A Hoeffer; E Sanchez; R J Hagerman; Y Mu; D V Nguyen; H Wong; A M Whelan; R S Zukin; E Klann; F Tassone
Journal:  Genes Brain Behav       Date:  2012-02-15       Impact factor: 3.449

Review 2.  The neurobiology of the Prader-Willi phenotype of fragile X syndrome.

Authors:  Zukhrofi Muzar; Reymundo Lozano; Alexander Kolevzon; Randi J Hagerman
Journal:  Intractable Rare Dis Res       Date:  2016-11

3.  The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice.

Authors:  Jeannette G Lumaban; David L Nelson
Journal:  Hum Mol Genet       Date:  2014-12-30       Impact factor: 6.150

4.  Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.

Authors:  Catalina García-Nonell; Eugenia Rigau Ratera; Susan Harris; David Hessl; Michele Y Ono; Nicole Tartaglia; Emily Marvin; Flora Tassone; Randi J Hagerman
Journal:  Am J Med Genet A       Date:  2008-08-01       Impact factor: 2.802

Review 5.  Autism: the point of view from fragile X studies.

Authors:  C Feinstein; A L Reiss
Journal:  J Autism Dev Disord       Date:  1998-10

Review 6.  The fragile X syndrome.

Authors:  B B de Vries; D J Halley; B A Oostra; M F Niermeijer
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

7.  FMR1 premutation and full mutation molecular mechanisms related to autism.

Authors:  Randi Hagerman; Jacky Au; Paul Hagerman
Journal:  J Neurodev Disord       Date:  2011-05-27       Impact factor: 4.025

8.  Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Authors:  Yong-Hui Jiang; Kekio Wauki; Qian Liu; Jan Bressler; Yanzhen Pan; Catherine D Kashork; Lisa G Shaffer; Arthur L Beaudet
Journal:  BMC Genomics       Date:  2008-01-28       Impact factor: 3.969

9.  Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

Authors:  Stefano Stagi; Elisabetta Lapi; Marilena Pantaleo; Francesco Chiarelli; Salvatore Seminara; Maurizio de Martino
Journal:  BMC Med Genet       Date:  2014-01-30       Impact factor: 2.103
  9 in total

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