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

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

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Wilkie, A, Pembrey, M, Gibbons, R, Higgs, D, Porteous, M, Burn, J, Winter, R
التنسيق:	Journal article
اللغة:	English
منشور في:	BMJ Publishing Group 1991

مواد مشابهة

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
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منشور في: (1991)

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
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Alpha thalassaemia mental retardation (ATR-X): an atypical family.
حسب: Logie, L, وآخرون
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Alpha thalassaemia-mental retardation, X linked
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Alpha thalassaemia-mental retardation, X linked.
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The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
حسب: Donnai, D, وآخرون
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Alpha thalassaemia-mental retardation, X linked
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alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
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Alpha-thalassaemia.
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The alpha thalassaemias.
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THE ALPHA-3.7 AND ALPHA-4.2 DELETION FORMS OF ALPHA+-THALASSAEMIA DIFFER IN SEVERITY
حسب: Hill, A, وآخرون
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The alpha-thalassemia/mental retardation syndromes.
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Non-deletional alpha thalassaemia: a review
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Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait
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X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
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Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders
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Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait
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The interaction of alpha thalassaemia and sickle cell-beta zero thalassaemia.
حسب: Vyas, P, وآخرون
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Alpha thalassaemia in British people.
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X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
حسب: Jezela-Stanek, A, وآخرون
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De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.
حسب: Viprakasit, V, وآخرون
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Haematology, genetics and molecular epidemiology of deletional alpha thalassaemia in Malaysia
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Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.
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Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
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Co-inheritance of alpha+-thalassaemia and sickle trait results in specific effects on haematological parameters.
حسب: Wambua, S, وآخرون
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Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
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Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
حسب: De Vries, B, وآخرون
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Alpha-thalassaemia caused by a polyadenylation signal mutation.
حسب: Higgs, D, وآخرون
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Alpha-thalassaemia in Nigeria: Its interaction with sickle-cell disease
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α-thalassaemia
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Screening of Alpha-Thalassaemia 1 in Beta-Thalassaemia Carriers
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Thalassaemia.
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Thalassaemia
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