Literature DB >> 1941971

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

A O Wilkie, M E Pembrey, R J Gibbons, D R Higgs, M E Porteous, J Burn, R M Winter.   

Abstract

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Year:  1991        PMID： 1941971      PMCID： PMC1017065          DOI： 10.1136/jmg.28.10.724

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


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  4 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

2.  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

3.  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

4.  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
  4 in total
  10 in total

1.  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

2.  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

Review 3.  A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

Authors:  R J Gibbons; A O Wilkie; D J Weatherall; D R Higgs
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.  Dataset of differentially expressed genes in mouse P12 testes in response to the loss of ATRX in Sertoli cells.

Authors:  Stefan Bagheri-Fam; Dimuthu Alankarage; Emily R Frost; Vincent R Harley
Journal:  Data Brief       Date:  2022-05-02

7.  X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

Authors:  R J Gibbons; G K Suthers; A O Wilkie; V J Buckle; D R Higgs
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

8.  Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.

Authors:  Norifumi Shioda; Hideyuki Beppu; Takaichi Fukuda; En Li; Isao Kitajima; Kohji Fukunaga
Journal:  J Neurosci       Date:  2011-01-05       Impact factor: 6.167

9.  ATRX has a critical and conserved role in mammalian sexual differentiation.

Authors:  Kim Huyhn; Marilyn B Renfree; Jennifer A Graves; Andrew J Pask
Journal:  BMC Dev Biol       Date:  2011-06-14       Impact factor: 1.978

10.  Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Authors:  Yan Cong; Jie Wu; Hao Wang; Ke Wu; Cui Huang; Xuejian Yang
Journal:  Front Pediatr       Date:  2022-04-04       Impact factor: 3.418
  10 in total

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