Literature DB >> 1770527

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

R J Gibbons1, A O Wilkie, D J Weatherall, D R Higgs.   

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Year:  1991        PMID： 1770527      PMCID： PMC1017105          DOI： 10.1136/jmg.28.11.729

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


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  11 in total

Review 1.  Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

Authors:  M P Harvey; A Kearney; A Smith; R J Trent
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

Review 2.  Globin gene regulation and switching: circa 1990.

Authors:  S H Orkin
Journal:  Cell       Date:  1990-11-16       Impact factor: 41.582

Review 3.  A review of the molecular genetics of the human alpha-globin gene cluster.

Authors:  D R Higgs; M A Vickers; A O Wilkie; I M Pretorius; A P Jarman; D J Weatherall
Journal:  Blood       Date:  1989-04       Impact factor: 22.113

4.  The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.

Authors:  A O Wilkie; M E Pembrey; R J Gibbons; D R Higgs; M E Porteous; J Burn; R M Winter
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

5.  X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Authors:  A O Wilkie; R J Gibbons; D R Higgs; M E Pembrey
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

6.  The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.

Authors:  D Donnai; J Clayton-Smith; R J Gibbons; D R Higgs
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

7.  Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.

Authors:  M E Porteous; J Burn
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

8.  Opinion: predictive testing for Huntington disease in childhood: challenges and implications.

Authors:  M Bloch; M R Hayden
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

9.  Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.

Authors:  T R Cole; A May; H E Hughes
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

10.  Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

Authors:  D J Weatherall; D R Higgs; C Bunch; J M Old; D M Hunt; L Pressley; J B Clegg; N C Bethlenfalvay; S Sjolin; R D Koler; E Magenis; J L Francis; D Bebbington
Journal:  N Engl J Med       Date:  1981-09-10       Impact factor: 91.245
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  13 in total

1.  X linked alpha thalassaemia/mental retardation (ATR-X) syndrome.

Authors:  A E Chudley; R B Lowry
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.

Authors:  Julien Masliah-Planchon; Dominique Lévy; Delphine Héron; Fabienne Giuliano; Catherine Badens; Paul Fréneaux; Louise Galmiche; Jean-Marc Guinebretierre; Cécile Cellier; Joshua J Waterfall; Khadija Aït-Raïs; Gaëlle Pierron; Christophe Glorion; Isabelle Desguerre; Christine Soler; Anne Deville; Olivier Delattre; Jean Michon; Franck Bourdeaut
Journal:  Eur J Hum Genet       Date:  2018-04-30       Impact factor: 4.246

3.  X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Authors:  A O Wilkie; R J Gibbons; D R Higgs; M E Pembrey
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

4.  α-Thalassemia, mental retardation, and myelodysplastic syndrome.

Authors:  Richard J Gibbons
Journal:  Cold Spring Harb Perspect Med       Date:  2012-10-01       Impact factor: 6.915

5.  X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

Authors:  R Ogle; M DeSouza; C Cunningham; B Kerr; D Sillence
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

6.  Alpha thalassaemia mental retardation (ATR-X): an atypical family.

Authors:  L J Logie; R J Gibbons; D R Higgs; J K Brown; M E Porteous
Journal:  Arch Dis Child       Date:  1994-05       Impact factor: 3.791

7.  A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

Authors:  V Shashi; M N Berry; S Shoaf; J J Sciote; D Goldstein; T C Hart
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

8.  Protein complex of Drosophila ATRX/XNP and HP1a is required for the formation of pericentric beta-heterochromatin in vivo.

Authors:  Alexander V Emelyanov; Alexander Y Konev; Elena Vershilova; Dmitry V Fyodorov
Journal:  J Biol Chem       Date:  2010-02-13       Impact factor: 5.157

Review 9.  ATRX: the case of a peculiar chromatin remodeler.

Authors:  Kajan Ratnakumar; Emily Bernstein
Journal:  Epigenetics       Date:  2012-12-18       Impact factor: 4.528

10.  A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

Authors:  Q H Qazi; D Markouizos; C Rao; T Sheikh; E Beller; R Kula
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318
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