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.

Bibliografische gegevens
Hoofdauteurs:	Wilkie, A, Pembrey, M, Gibbons, R, Higgs, D, Porteous, M, Burn, J, Winter, R
Formaat:	Journal article
Taal:	English
Gepubliceerd in:	BMJ Publishing Group 1991

Gelijkaardige items

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

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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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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Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait
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De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.
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Non-deletional alpha thalassaemia: a review of emerging therapy
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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.
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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?
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Alpha-thalassaemia caused by a polyadenylation signal mutation.
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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
door: Chong, Yi Min
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X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
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Thalassaemia.
door: Higgs, D, et al.
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Thalassaemia
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Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
door: Fathma Abdullah, Nurul Ain
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A Case with Mental Retardation, Gynecomastia and Dysmorphic Features
door: Ozge Ozalp Yuregir, et al.
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A Case with Mental Retardation, Gynecomastia and Dysmorphic Features
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Screening of concurrent alpha-Thalassaemia 1 in beta-Thalassaemia carriers
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The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
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