Alpha thalassaemia-mental retardation, X linked

Alpha thalassaemia-mental retardation, X linked

عرض إصدارات أخرى (1)

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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Gibbons, R
التنسيق:	Journal article
اللغة:	English
منشور في:	2006

مواد مشابهة

Alpha thalassaemia-mental retardation, X linked.
حسب: Gibbons, R
منشور في: (2006)

Alpha thalassaemia-mental retardation, X linked
حسب: Gibbons Richard
منشور في: (2006-05-01)

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
حسب: Gibbons, R, وآخرون
منشور في: (1991)

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
حسب: Logie, L, وآخرون
منشور في: (1994)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
حسب: Law, M, وآخرون
منشور في: (2003)

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
حسب: Wilkie, A, وآخرون
منشور في: (1991)

The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
حسب: Wilkie, A, وآخرون
منشور في: (1991)

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
حسب: Donnai, D, وآخرون
منشور في: (1991)

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
حسب: Jezela-Stanek, A, وآخرون
منشور في: (2009)

ATR-X: α-Thalassemia Mental Retardation-X-Linked
حسب: Gibbons, R
منشور في: (2010)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
حسب: Gibbons, R, وآخرون
منشور في: (1995)

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
حسب: Saugier-Veber, P, وآخرون
منشور في: (1995)

The alpha-thalassemia/mental retardation syndromes.
حسب: Gibbons, R, وآخرون
منشور في: (1996)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
حسب: Gibbons, R, وآخرون
منشور في: (1995)

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
حسب: Reardon, W, وآخرون
منشور في: (1995)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
حسب: Gibbons, R, وآخرون
منشور في: (1992)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
حسب: McPherson, E, وآخرون
منشور في: (1995)

Alpha-thalassaemia.
حسب: Harteveld, C, وآخرون
منشور في: (2010)

The alpha thalassaemias.
حسب: Higgs, D, وآخرون
منشور في: (2009)

Screening of Alpha-Thalassaemia 1 in Beta-Thalassaemia Carriers
حسب: Chong, Yi Min
منشور في: (2005)

X-Linked Mental Retardation and Epilepsy Syndrome
حسب: J Gordon Millichap
منشور في: (2002-01-01)

Alpha thalassaemia in British people.
حسب: Higgs, D, وآخرون
منشور في: (1985)

Screening of concurrent alpha-Thalassaemia 1 in beta-Thalassaemia carriers
حسب: Chong, Y.M., وآخرون
منشور في: (2006)

The interaction of alpha thalassaemia and sickle cell-beta zero thalassaemia.
حسب: Vyas, P, وآخرون
منشور في: (1988)

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
حسب: Haas, P, وآخرون
منشور في: (2009)

The interaction of alpha thalassaemia with malaria.
حسب: Oppenheimer, S, وآخرون
منشور في: (1987)

Alpha-thalassaemia and the malaria hypothesis.
حسب: Hill, A, وآخرون
منشور في: (1987)

Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6
حسب: Mika K. Kaneko, وآخرون
منشور في: (2018-09-01)

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
حسب: Travali Salvatore, وآخرون
منشور في: (2010-07-01)

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.
حسب: Muers, MR, وآخرون
منشور في: (2007)

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
حسب: Szczałuba, K, وآخرون
منشور في: (2011)

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
حسب: Szczałuba, K, وآخرون
منشور في: (2011)

Acquired alpha thalassaemia in myelodysplastic syndrome
حسب: Cheong, P
منشور في: (2018)

Splenic size in homozygous alpha+ thalassaemia.
حسب: Williams, T, وآخرون
منشور في: (1998)

Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report
حسب: Hala Shokr, وآخرون
منشور في: (2024-11-01)

Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential
حسب: Jenny He, وآخرون
منشور في: (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.
حسب: Brenda López-Falcón, وآخرون
منشور في: (2016-01-01)

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
حسب: Fryns Jean-Pierre, وآخرون
منشور في: (2006-07-01)

Non-deletional alpha thalassaemia: a review
حسب: Ibrahim Kalle Kwaifa, وآخرون
منشور في: (2020-06-01)

Optimal mean corpuscular haemoglobin (MCH) cut-off value for differentiating alpha plus and alpha zero thalassaemia in thalassaemia screening
حسب: Idris, Faridah, وآخرون
منشور في: (2020)