Literature DB >> 8558551

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.

B B de Vries1, H Robinson, I Stolte-Dijkstra, C V Tjon Pian Gi, P F Dijkstra, J van Doorn, D J Halley, B A Oostra, G Turner, M F Niermeijer.   

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Year:  1995        PMID： 8558551      PMCID： PMC1051696          DOI： 10.1136/jmg.32.10.764

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


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  33 in total

1.  CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

Authors:  J F SOTOS; P R DODGE; D MUIRHEAD; J D CRAWFORD; N B TALBOT
Journal:  N Engl J Med       Date:  1964-07-16       Impact factor: 91.245

2.  Sotos syndrome: a study of the diagnostic criteria and natural history.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

3.  Cerebral gigantism.

Authors:  B Kjellman
Journal:  Acta Paediatr Scand       Date:  1965-11

4.  Dizygous twinning and premature menopause in fragile X syndrome.

Authors:  G Turner; H Robinson; S Wake; N Martin
Journal:  Lancet       Date:  1994-11-26       Impact factor: 79.321

5.  Obstetrical and gynecological complications in fragile X carriers: a multicenter study.

Authors:  C E Schwartz; J Dean; P N Howard-Peebles; M Bugge; M Mikkelsen; N Tommerup; C Hull; R Hagerman; J J Holden; R E Stevenson
Journal:  Am J Med Genet       Date:  1994-07-15

6.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

7.  The fragile X syndrome II: preliminary data on growth and development in males.

Authors:  M W Partington
Journal:  Am J Med Genet       Date:  1984-01

8.  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

9.  Cerebral gigantism (Sotos' syndrome). Metacarpophalangeal pattern profiles.

Authors:  P F Dijkstra
Journal:  Rofo       Date:  1985-08

10.  Prader-Willi-like phenotype in fragile X syndrome.

Authors:  C Schrander-Stumpel; W J Gerver; H Meyer; J Engelen; H Mulder; J P Fryns
Journal:  Clin Genet       Date:  1994-04       Impact factor: 4.438
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  8 in total

Review 1.  Fragile X syndrome. Molecular and clinical insights and treatment issues.

Authors:  R J Hagerman
Journal:  West J Med       Date:  1997-02

Review 2.  Serotonin dysregulation in Fragile X Syndrome: implications for treatment.

Authors:  Alicia C Hanson; Randi J Hagerman
Journal:  Intractable Rare Dis Res       Date:  2014-11

3.  Effects of Soy-Based Infant Formula on Weight Gain and Neurodevelopment in an Autism Mouse Model.

Authors:  Cara J Westmark; Mikolaj J Filon; Patricia Maina; Lauren I Steinberg; Chrysanthy Ikonomidou; Pamela R Westmark
Journal:  Cells       Date:  2022-04-15       Impact factor: 7.666

Review 4.  Fragile X syndrome: A review of clinical management.

Authors:  Reymundo Lozano; Atoosa Azarang; Tanaporn Wilaisakditipakorn; Randi J Hagerman
Journal:  Intractable Rare Dis Res       Date:  2016-08

Review 5.  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

6.  Fmr1-Deficiency Impacts Body Composition, Skeleton, and Bone Microstructure in a Mouse Model of Fragile X Syndrome.

Authors:  Antoine Leboucher; Patricia Bermudez-Martin; Xavier Mouska; Ez-Zoubir Amri; Didier F Pisani; Laetitia Davidovic
Journal:  Front Endocrinol (Lausanne)       Date:  2019-10-02       Impact factor: 5.555

7.  AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse model.

Authors:  Karima Habbas; Oktay Cakil; Boglárka Zámbó; Ricardos Tabet; Fabrice Riet; Doulaye Dembele; Jean-Louis Mandel; Michaël Hocquemiller; Ralph Laufer; Françoise Piguet; Hervé Moine
Journal:  EMBO Mol Med       Date:  2022-04-04       Impact factor: 14.260

8.  Unique effects on hepatic function, lipid metabolism, bone and growth endocrine parameters of estetrol in combined oral contraceptives.

Authors:  Marie Mawet; Catherine Maillard; Christine Klipping; Yvette Zimmerman; Jean-Michel Foidart; Herjan J T Coelingh Bennink
Journal:  Eur J Contracept Reprod Health Care       Date:  2015-07-27       Impact factor: 1.848
  8 in total

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