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...

Podrobná bibliografie
Hlavní autoři:	Gibbons, R, Higgs, DR
Médium:	Journal article
Jazyk:	English
Vydáno:	1996

Podobné jednotky

The alpha-thalassemia/mental retardation syndromes.
Autor: Gibbons, R, a další
Vydáno: (1996)

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

ATR-X: α-Thalassemia Mental Retardation-X-Linked
Autor: Gibbons, R
Vydáno: (2010)

THE USE OF EXCLUSION MAPPING TO DEFINE THE SEGMENT OF 16P13.3 INVOLVED IN THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
Autor: Raynham, H, a další
Vydáno: (1993)

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

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
Autor: Reardon, W, a další
Vydáno: (1995)

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

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
Autor: Saugier-Veber, P, a další
Vydáno: (1995)

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

Syndromal mental retardation due to mutations in a regulator of gene expression.
Autor: Gibbons, R, a další
Vydáno: (1995)

The genetic basis for mental retardation.
Autor: Raynham, H, a další
Vydáno: (1996)

The molecular basis of α-thalassemia.
Autor: Higgs, DR
Vydáno: (2013)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
Autor: Gibbons, R, a další
Vydáno: (1995)

The molecular basis of α-thalassemia: a model for understanding human molecular genetics.
Autor: Higgs, D, a další
Vydáno: (2010)

Understanding α-globin gene regulation and implications for the treatment of β-thalassemia
Autor: Mettananda, S, a další
Vydáno: (2016)

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
Autor: Gibbons, R, a další
Vydáno: (1991)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
Autor: Law, M, a další
Vydáno: (2003)

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
Autor: Donnai, D, a další
Vydáno: (1991)

The molecular basis of α-thalassemia.
Autor: Higgs, D
Vydáno: (2013)

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

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

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.
Autor: Steensma, D, a další
Vydáno: (2005)

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
Autor: Logie, L, a další
Vydáno: (1994)

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

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

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
Autor: Wilkie, A, a další
Vydáno: (1991)

TAS102 selectively inhibits proliferation of α-thalassemia mental retardation X-linked gene-deficient glioma cells
Autor: WANG Long, a další
Vydáno: (2019-12-01)

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
Autor: Guerrini, R, a další
Vydáno: (2000)

Alpha thalassaemia-mental retardation, X linked
Autor: Gibbons, R
Vydáno: (2006)

Alpha thalassaemia-mental retardation, X linked.
Autor: Gibbons, R
Vydáno: (2006)

Risk Factors to Growth Retardation in Major Thalassemia
Autor: Riva Uda, a další
Vydáno: (2011-03-01)

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

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
Autor: Travali Salvatore, a další
Vydáno: (2010-07-01)

A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family.
Autor: Gibbons, R, a další
Vydáno: (1999)

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

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

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

Selective silencing of α-globin by the histone demethylase inhibitor IOX1: A potentially new pathway for treatment of β-thalassemia
Autor: Mettananda, S, a další
Vydáno: (2016)

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

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