Literature DB >> 15338463

Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.

J L Mandel.   

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Year:  2004        PMID： 15338463      PMCID： PMC1182066          DOI： 10.1086/424821

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  10 in total

1.  Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

Authors:  B B de Vries; A M van den Ouweland; S Mohkamsing; H J Duivenvoorden; E Mol; K Gelsema; M van Rijn; D J Halley; L A Sandkuijl; B A Oostra; A Tibben; M F Niermeijer
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

2.  X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Authors:  G S Salomons; S J van Dooren; N M Verhoeven; K M Cecil; W S Ball; T J Degrauw; C Jakobs
Journal:  Am J Hum Genet       Date:  2001-04-20       Impact factor: 11.025

Review 3.  Monogenic causes of X-linked mental retardation.

Authors:  J Chelly; J L Mandel
Journal:  Nat Rev Genet       Date:  2001-09       Impact factor: 53.242

4.  Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.

Authors:  Udai Bhan Pandey; S Phadke; B Mittal
Journal:  Genet Test       Date:  2002

5.  Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

Authors:  Valérie Biancalana; Chérif Beldjord; Agnès Taillandier; Sylvie Szpiro-Tapia; Véronica Cusin; Fabienne Gerson; Christophe Philippe; Jean-Louis Mandel
Journal:  Am J Med Genet A       Date:  2004-09-01       Impact factor: 2.802

6.  Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Authors:  Jean-Louis Mandel; Jamel Chelly
Journal:  Eur J Hum Genet       Date:  2004-09       Impact factor: 4.246

7.  Screening of the ARX gene in 682 retarded males.

Authors:  Karen Grønskov; Helle Hjalgrim; Inge-Merete Nielsen; Karen Brøndum-Nielsen
Journal:  Eur J Hum Genet       Date:  2004-09       Impact factor: 4.246

8.  The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers.

Authors:  J Fishburn; G Turner; A Daniel; R Brookwell
Journal:  Am J Med Genet       Date:  1983-04

9.  Screening for fragile X syndrome: results from a school for mentally retarded children.

Authors:  S Hećimović; I Petek Tarnik; I Barić; Z Cakarun; K Pavelić
Journal:  Acta Paediatr       Date:  2002       Impact factor: 2.299

10.  High prevalence of SLC6A8 deficiency in X-linked mental retardation.

Authors:  Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Rose S deGrauw; Helger G Yntema; Nadia Bahi; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; Ton J deGrauw; Cornelis Jakobs; Gajja S Salomons
Journal:  Am J Hum Genet       Date:  2004-05-20       Impact factor: 11.025
  10 in total
  3 in total

Review 1.  X linked mental retardation: a clinical guide.

Authors:  F L Raymond
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

2.  X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Authors:  Amy J Clark; Efraim H Rosenberg; Ligia S Almeida; Tim C Wood; Cornelis Jakobs; Roger E Stevenson; Charles E Schwartz; Gajja S Salomons
Journal:  Hum Genet       Date:  2006-04-26       Impact factor: 4.132

3.  Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Authors:  David Cheillan; Marie Joncquel-Chevalier Curt; Gilbert Briand; Gajja S Salomons; Karine Mention-Mulliez; Dries Dobbelaere; Jean-Marie Cuisset; Laurence Lion-François; Vincent Des Portes; Allel Chabli; Vassili Valayannopoulos; Jean-François Benoist; Jean-Marc Pinard; Gilles Simard; Olivier Douay; Kumaran Deiva; Alexandra Afenjar; Delphine Héron; François Rivier; Brigitte Chabrol; Fabienne Prieur; François Cartault; Gaëlle Pitelet; Alice Goldenberg; Soumeya Bekri; Marion Gerard; Richard Delorme; Marc Tardieu; Nicole Porchet; Christine Vianey-Saban; Joseph Vamecq
Journal:  Orphanet J Rare Dis       Date:  2012-12-13       Impact factor: 4.123
  3 in total

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