Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).

Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).

Bibliografiske detaljer
Main Authors:	Haas, P, Schwabe, M, Fisher, C, Gibbons, R, Higgs, D, Bisse, E, Luebbert, M
Format:	Conference item
Udgivet:	2006

Lignende værker

Acquired alpha-thalassaernia in association with myelodysplastic syndrome (ATMDS): Two further private ATRX mutations
af: Fisher, C, et al.
Udgivet: (2007)

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.
af: Steensma, D, et al.
Udgivet: (2004)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the alpha thalassemia myelodysplasia syndrome (ATMDS).
af: Gibbons, R, et al.
Udgivet: (2003)

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
af: Gibbons, R, et al.
Udgivet: (2003)

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)

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

A novel splicing mutation in the gene encoding the chromatin-associated factor ATRX associated with acquired hemoglobin H disease in myelodysplastic syndrome (ATMDS)
af: Steensma, D, et al.
Udgivet: (2004)

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the a thalassaemia myelodysplasia syndrome (ATMDS)
af: Gibbons, R, et al.
Udgivet: (2003)

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
af: Costa, D, et al.
Udgivet: (2006)

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.
af: Steensma, D, et al.
Udgivet: (2005)

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.
af: Steensma, D, et al.
Udgivet: (2004)

Identification of mutations in ATRX by RNase mismatch cleavage.
af: Gibbons, R, et al.
Udgivet: (1997)

5-Azacytidine treatment of the patient with ATMDS (vol 76, pg 432, 2006)
af: Costa, D, et al.
Udgivet: (2006)

ATRX: taming tandem repeats.
af: Gibbons, R, et al.
Udgivet: (2010)

Functional significance of mutations in the Snf2 domain of ATRX.
af: Mitson, M, et al.
Udgivet: (2011)

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

PB2029: ACQUIRED ALPHA THALASSEMIA IN ASSOCIATION WITH MYELODYSPLASTIC SYNDROME- A CASE REPORT
af: Priyavadhana Balasubramanian, et al.
Udgivet: (2023-08-01)

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

Mutations in the chromatin-associated protein ATRX.
af: Gibbons, R, et al.
Udgivet: (2008)

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
af: Argentaro, A, et al.
Udgivet: (2007)

XNP/ATRX at sites of nucleosome replacement.
af: Garrick, D, et al.
Udgivet: (2009)

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
af: Guerrini, R, et al.
Udgivet: (2000)

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
af: Shaomin Wu, et al.
Udgivet: (2022-01-01)

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

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

The chromatin remodeller ATRX: A repeat offender in human disease
af: Clynes, D, et al.
Udgivet: (2013)

The chromatin remodeller ATRX: a repeat offender in human disease.
af: Clynes, D, et al.
Udgivet: (2013)

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia
af: Steensma, D, et al.
Udgivet: (2004)

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia.
af: Steensma, D, et al.
Udgivet: (2005)

Disruption of ATRX in mouse by conditional knockout.
af: Gibbons, R, et al.
Udgivet: (2002)

The loss of ATRX increases susceptibility to pancreatic injury and oncogenic KRAS in female but not male mice
af: Young, C, et al.
Udgivet: (2018)

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)

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)

ATRX and the replication of structured DNA.
af: Clynes, D, et al.
Udgivet: (2013)

A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family.
af: Gibbons, R, et al.
Udgivet: (1999)

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
af: Gibbons, R, et al.
Udgivet: (2000)

THE ALPHA-THALASSEMIAS
af: Higgs, D, et al.
Udgivet: (1990)

The alpha-thalassemias.
af: Higgs, D, et al.
Udgivet: (1990)

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
af: Malik, N, et al.
Udgivet: (2006)

Melanesians and Polynesians share a unique alpha-thalassemia mutation.
af: Hill, A, et al.
Udgivet: (1985)