A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

Xehetasun bibliografikoak
Egile Nagusiak:	Gibbons, R, Wilkie, A, Weatherall, D, Higgs, D
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	1991

Antzeko izenburuak

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

Alpha thalassaemia-mental retardation, X linked
nork: Gibbons, R
Argitaratua: (2006)

Alpha thalassaemia-mental retardation, X linked.
nork: Gibbons, R
Argitaratua: (2006)

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

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

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

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

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
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Argitaratua: (1991)

The alpha thalassaemias.
nork: Higgs, D, et al.
Argitaratua: (2009)

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

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

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

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

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

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

THE USE OF EXCLUSION MAPPING TO DEFINE THE SEGMENT OF 16P13.3 INVOLVED IN THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
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Alpha-thalassaemia.
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Argitaratua: (2010)

Alpha thalassaemia in British people.
nork: Higgs, D, et al.
Argitaratua: (1985)

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

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

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

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

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

Alpha-thalassaemia and the malaria hypothesis.
nork: Hill, A, et al.
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The α-thalassemia/mental retardation syndromes
nork: Gibbons, R, et al.
Argitaratua: (1996)

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

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

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

ATR-X: α-Thalassemia Mental Retardation-X-Linked
nork: Gibbons, R
Argitaratua: (2010)

Alpha thalassaemia is associated with increased soluble transferrin receptor levels.
nork: Rees, D, et al.
Argitaratua: (1998)

Syndromal mental retardation due to mutations in a regulator of gene expression.
nork: Gibbons, R, et al.
Argitaratua: (1995)

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

Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of alpha thalassaemia (--MED/(alpha)TSaudi(alpha)).
nork: Viprakasit, V, et al.
Argitaratua: (2002)

The genetic basis for mental retardation.
nork: Raynham, H, et al.
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Acquired alpha thalassaemia in myelodysplastic syndrome
nork: Cheong, P
Argitaratua: (2018)

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

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

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

Thalassaemia.
nork: Higgs, D, et al.
Argitaratua: (2012)

Thalassaemia
nork: Higgs, D, et al.
Argitaratua: (2011)