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.

Dades bibliogràfiques
Autors principals:	Wilkie, A, Pembrey, M, Gibbons, R, Higgs, D, Porteous, M, Burn, J, Winter, R
Format:	Journal article
Idioma:	English
Publicat:	BMJ Publishing Group 1991

Ítems similars

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
per: Wilkie, A, et al.
Publicat: (1991)

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
per: Gibbons, R, et al.
Publicat: (1991)

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
per: Logie, L, et al.
Publicat: (1994)

Alpha thalassaemia-mental retardation, X linked
per: Gibbons, R
Publicat: (2006)

Alpha thalassaemia-mental retardation, X linked.
per: Gibbons, R
Publicat: (2006)

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
per: Donnai, D, et al.
Publicat: (1991)

Alpha thalassaemia-mental retardation, X linked
per: Gibbons Richard
Publicat: (2006-05-01)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
per: Law, M, et al.
Publicat: (2003)

Alpha-thalassaemia.
per: Harteveld, C, et al.
Publicat: (2010)

The alpha thalassaemias.
per: Higgs, D, et al.
Publicat: (2009)

THE ALPHA-3.7 AND ALPHA-4.2 DELETION FORMS OF ALPHA+-THALASSAEMIA DIFFER IN SEVERITY
per: Hill, A, et al.
Publicat: (1985)

The alpha-thalassemia/mental retardation syndromes.
per: Gibbons, R, et al.
Publicat: (1996)

Non-deletional alpha thalassaemia: a review
per: Ibrahim Kalle Kwaifa, et al.
Publicat: (2020-06-01)

Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait
per: Teh, L.K., et al.
Publicat: (2009)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
per: Gibbons, R, et al.
Publicat: (1992)

Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders
per: Wee, Y.C., et al.
Publicat: (2008)

Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait
per: Teh, Lai Kuan, et al.
Publicat: (2009)

The interaction of alpha thalassaemia and sickle cell-beta zero thalassaemia.
per: Vyas, P, et al.
Publicat: (1988)

Alpha thalassaemia in British people.
per: Higgs, D, et al.
Publicat: (1985)

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
per: Jezela-Stanek, A, et al.
Publicat: (2009)

De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.
per: Viprakasit, V, et al.
Publicat: (2003)

Haematology, genetics and molecular epidemiology of deletional alpha thalassaemia in Malaysia
per: Mohd Yacob, Aliza
Publicat: (2011)

Non-deletional alpha thalassaemia: a review of emerging therapy
per: Khairil Wahidin, Nurfhaezah, et al.
Publicat: (2021)

Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.
per: Haywood, A, et al.
Publicat: (2010)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
per: Gibbons, R, et al.
Publicat: (1995)

Co-inheritance of alpha+-thalassaemia and sickle trait results in specific effects on haematological parameters.
per: Wambua, S, et al.
Publicat: (2006)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
per: Gibbons, R, et al.
Publicat: (1995)

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
per: De Vries, B, et al.
Publicat: (2001)

Alpha-thalassaemia caused by a polyadenylation signal mutation.
per: Higgs, D, et al.
Publicat: (1983)

Alpha-thalassaemia in Nigeria: Its interaction with sickle-cell disease
per: Falusi, A, et al.
Publicat: (2009)

α-thalassaemia
per: Higgs Douglas R, et al.
Publicat: (2010-05-01)

Screening of Alpha-Thalassaemia 1 in Beta-Thalassaemia Carriers
per: Chong, Yi Min
Publicat: (2005)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
per: McPherson, E, et al.
Publicat: (1995)

Thalassaemia.
per: Higgs, D, et al.
Publicat: (2012)

Thalassaemia
per: Higgs, D, et al.
Publicat: (2011)

Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
per: Fathma Abdullah, Nurul Ain
Publicat: (2015)

A Case with Mental Retardation, Gynecomastia and Dysmorphic Features
per: Ozge Ozalp Yuregir, et al.
Publicat: (2012-02-01)

A Case with Mental Retardation, Gynecomastia and Dysmorphic Features
per: Ozge Ozalp Yuregir, et al.
Publicat: (2012-03-01)

Screening of concurrent alpha-Thalassaemia 1 in beta-Thalassaemia carriers
per: Chong, Y.M., et al.
Publicat: (2006)

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
per: Haas, P, et al.
Publicat: (2009)