The α-thalassemia/mental retardation syndromes

The α-thalassemia/mental retardation syndromes

The chromosome-16 and the X-chromosome forms of α-thalassemia-ATR-16 and ATR-X-exemplify 2 important causes of syndromal mental retardation. ATR-16 is a contiguous gene syndrome which arises from loss of DNA from the tip of chromosome 16p13.3 by truncation, interstitial deletion, or unbalanced trans...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Gibbons, R, Higgs, DR
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	1996

Ижил төстэй зүйлс

The alpha-thalassemia/mental retardation syndromes.
-н: Gibbons, R, зэрэг
Хэвлэсэн: (1996)

α-Thalassemia, mental retardation, and myelodysplastic syndrome.
-н: Gibbons, R
Хэвлэсэн: (2012)

ATR-X: α-Thalassemia Mental Retardation-X-Linked
-н: Gibbons, R
Хэвлэсэн: (2010)

THE USE OF EXCLUSION MAPPING TO DEFINE THE SEGMENT OF 16P13.3 INVOLVED IN THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
-н: Raynham, H, зэрэг
Хэвлэсэн: (1993)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
-н: Gibbons, R, зэрэг
Хэвлэсэн: (1995)

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
-н: Reardon, W, зэрэг
Хэвлэсэн: (1995)

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

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
-н: Saugier-Veber, P, зэрэг
Хэвлэсэн: (1995)

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

Syndromal mental retardation due to mutations in a regulator of gene expression.
-н: Gibbons, R, зэрэг
Хэвлэсэн: (1995)

The genetic basis for mental retardation.
-н: Raynham, H, зэрэг
Хэвлэсэн: (1996)

The molecular basis of α-thalassemia.
-н: Higgs, DR
Хэвлэсэн: (2013)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
-н: Gibbons, R, зэрэг
Хэвлэсэн: (1995)

The molecular basis of α-thalassemia: a model for understanding human molecular genetics.
-н: Higgs, D, зэрэг
Хэвлэсэн: (2010)

Understanding α-globin gene regulation and implications for the treatment of β-thalassemia
-н: Mettananda, S, зэрэг
Хэвлэсэн: (2016)

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
-н: Gibbons, R, зэрэг
Хэвлэсэн: (1991)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
-н: Law, M, зэрэг
Хэвлэсэн: (2003)

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
-н: Donnai, D, зэрэг
Хэвлэсэн: (1991)

The molecular basis of α-thalassemia.
-н: Higgs, D
Хэвлэсэн: (2013)

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

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

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.
-н: Steensma, D, зэрэг
Хэвлэсэн: (2005)

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
-н: Logie, L, зэрэг
Хэвлэсэн: (1994)

Noniron deficiency microcytic anemia, dysmorphic features, and intellectual disability: Diagnostic clues for α-thalassemia/mental retardation associated with chromosome 16 syndrome
-н: Kentaro Tamura, зэрэг
Хэвлэсэн: (2022-05-01)

The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
-н: Wilkie, A, зэрэг
Хэвлэсэн: (1991)

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
-н: Wilkie, A, зэрэг
Хэвлэсэн: (1991)

TAS102 selectively inhibits proliferation of α-thalassemia mental retardation X-linked gene-deficient glioma cells
-н: WANG Long, зэрэг
Хэвлэсэн: (2019-12-01)

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
-н: Guerrini, R, зэрэг
Хэвлэсэн: (2000)

Alpha thalassaemia-mental retardation, X linked
-н: Gibbons, R
Хэвлэсэн: (2006)

Alpha thalassaemia-mental retardation, X linked.
-н: Gibbons, R
Хэвлэсэн: (2006)

Risk Factors to Growth Retardation in Major Thalassemia
-н: Riva Uda, зэрэг
Хэвлэсэн: (2011-03-01)

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

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
-н: Travali Salvatore, зэрэг
Хэвлэсэн: (2010-07-01)

A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family.
-н: Gibbons, R, зэрэг
Хэвлэсэн: (1999)

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

Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential
-н: Jenny He, зэрэг
Хэвлэсэн: (2018-01-01)

Variable Clinical Phenotypes of α-Thalassemia Syndromes
-н: Sylvia Titi Singer
Хэвлэсэн: (2009-01-01)

Selective silencing of α-globin by the histone demethylase inhibitor IOX1: A potentially new pathway for treatment of β-thalassemia
-н: Mettananda, S, зэрэг
Хэвлэсэн: (2016)

DHPLC analysis of the ATRX gene in myelodysplastic syndrome (MDS) associated with acquired alpha thalassemia (AT-MDS): Novel mutation detection despite somatic mosaicism.
-н: Steensma, D, зэрэг
Хэвлэсэн: (2003)

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.
-н: Steensma, D, зэрэг
Хэвлэсэн: (2004)