Alpha thalassaemia-mental retardation, X linked

Alpha thalassaemia-mental retardation, X linked

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X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Langu...

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Bibliografiske detaljer
Hovedforfatter:	Gibbons, R
Format:	Journal article
Sprog:	English
Udgivet:	2006

Lignende værker

Alpha thalassaemia-mental retardation, X linked.
af: Gibbons, R
Udgivet: (2006)

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

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

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

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

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

The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
af: Wilkie, A, et al.
Udgivet: (1991)

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

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

ATR-X: α-Thalassemia Mental Retardation-X-Linked
af: Gibbons, R
Udgivet: (2010)

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

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
af: Saugier-Veber, P, et al.
Udgivet: (1995)

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

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

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
af: Reardon, W, et al.
Udgivet: (1995)

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

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

Alpha-thalassaemia.
af: Harteveld, C, et al.
Udgivet: (2010)

The alpha thalassaemias.
af: Higgs, D, et al.
Udgivet: (2009)

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

X-Linked Mental Retardation and Epilepsy Syndrome
af: J Gordon Millichap
Udgivet: (2002-01-01)

Alpha thalassaemia in British people.
af: Higgs, D, et al.
Udgivet: (1985)

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

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

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

The interaction of alpha thalassaemia with malaria.
af: Oppenheimer, S, et al.
Udgivet: (1987)

Alpha-thalassaemia and the malaria hypothesis.
af: Hill, A, et al.
Udgivet: (1987)

Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6
af: Mika K. Kaneko, et al.
Udgivet: (2018-09-01)

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
af: Travali Salvatore, et al.
Udgivet: (2010-07-01)

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.
af: Muers, MR, et al.
Udgivet: (2007)

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
af: Szczałuba, K, et al.
Udgivet: (2011)

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
af: Szczałuba, K, et al.
Udgivet: (2011)

Acquired alpha thalassaemia in myelodysplastic syndrome
af: Cheong, P
Udgivet: (2018)

Splenic size in homozygous alpha+ thalassaemia.
af: Williams, T, et al.
Udgivet: (1998)

Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report
af: Hala Shokr, et al.
Udgivet: (2024-11-01)

Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential
af: Jenny He, et al.
Udgivet: (2018-01-01)

Correction: Characterization of the Drosophila Group Ortholog to the Amino-Terminus of the Alpha-Thalassemia and Mental Retardation X-Linked (ATRX) Vertebrate Protein.
af: Brenda López-Falcón, et al.
Udgivet: (2016-01-01)

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
af: Fryns Jean-Pierre, et al.
Udgivet: (2006-07-01)

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

Optimal mean corpuscular haemoglobin (MCH) cut-off value for differentiating alpha plus and alpha zero thalassaemia in thalassaemia screening
af: Idris, Faridah, et al.
Udgivet: (2020)