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.

ग्रंथसूची विवरण
मुख्य लेखकों:	Wilkie, A, Pembrey, M, Gibbons, R, Higgs, D, Porteous, M, Burn, J, Winter, R
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	BMJ Publishing Group 1991

समान संसाधन

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
द्वारा: Wilkie, A, और अन्य
प्रकाशित: (1991)

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1991)

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
द्वारा: Logie, L, और अन्य
प्रकाशित: (1994)

Alpha thalassaemia-mental retardation, X linked
द्वारा: Gibbons, R
प्रकाशित: (2006)

Alpha thalassaemia-mental retardation, X linked.
द्वारा: Gibbons, R
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The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
द्वारा: Donnai, D, और अन्य
प्रकाशित: (1991)

Alpha thalassaemia-mental retardation, X linked
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alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
द्वारा: Law, M, और अन्य
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Alpha-thalassaemia.
द्वारा: Harteveld, C, और अन्य
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The alpha thalassaemias.
द्वारा: Higgs, D, और अन्य
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THE ALPHA-3.7 AND ALPHA-4.2 DELETION FORMS OF ALPHA+-THALASSAEMIA DIFFER IN SEVERITY
द्वारा: Hill, A, और अन्य
प्रकाशित: (1985)

The alpha-thalassemia/mental retardation syndromes.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1996)

Non-deletional alpha thalassaemia: a review
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Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait
द्वारा: Teh, L.K., और अन्य
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X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1992)

Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders
द्वारा: Wee, Y.C., और अन्य
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Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait
द्वारा: Teh, Lai Kuan, और अन्य
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The interaction of alpha thalassaemia and sickle cell-beta zero thalassaemia.
द्वारा: Vyas, P, और अन्य
प्रकाशित: (1988)

Alpha thalassaemia in British people.
द्वारा: Higgs, D, और अन्य
प्रकाशित: (1985)

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
द्वारा: Jezela-Stanek, A, और अन्य
प्रकाशित: (2009)

De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.
द्वारा: Viprakasit, V, और अन्य
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Haematology, genetics and molecular epidemiology of deletional alpha thalassaemia in Malaysia
द्वारा: Mohd Yacob, Aliza
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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.
द्वारा: Haywood, A, और अन्य
प्रकाशित: (2010)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1995)

Co-inheritance of alpha+-thalassaemia and sickle trait results in specific effects on haematological parameters.
द्वारा: Wambua, S, और अन्य
प्रकाशित: (2006)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1995)

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
द्वारा: De Vries, B, और अन्य
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Alpha-thalassaemia caused by a polyadenylation signal mutation.
द्वारा: Higgs, D, और अन्य
प्रकाशित: (1983)

Alpha-thalassaemia in Nigeria: Its interaction with sickle-cell disease
द्वारा: Falusi, A, और अन्य
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α-thalassaemia
द्वारा: Higgs Douglas R, और अन्य
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Screening of Alpha-Thalassaemia 1 in Beta-Thalassaemia Carriers
द्वारा: Chong, Yi Min
प्रकाशित: (2005)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
द्वारा: McPherson, E, और अन्य
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Thalassaemia.
द्वारा: Higgs, D, और अन्य
प्रकाशित: (2012)

Thalassaemia
द्वारा: Higgs, D, और अन्य
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Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
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A Case with Mental Retardation, Gynecomastia and Dysmorphic Features
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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
द्वारा: Chong, Y.M., और अन्य
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The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
द्वारा: Haas, P, और अन्य
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