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).

Detalhes bibliográficos
Main Authors:	Haas, P, Schwabe, M, Fisher, C, Gibbons, R, Higgs, D, Bisse, E, Luebbert, M
Formato:	Conference item
Publicado em:	2006

Registos relacionados

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

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

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

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

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

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

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

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

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

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

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

Identification of mutations in ATRX by RNase mismatch cleavage.
Por: Gibbons, R, et al.
Publicado em: (1997)

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

ATRX: taming tandem repeats.
Por: Gibbons, R, et al.
Publicado em: (2010)

Functional significance of mutations in the Snf2 domain of ATRX.
Por: Mitson, M, et al.
Publicado em: (2011)

The alpha-thalassemia/mental retardation syndromes.
Por: Gibbons, R, et al.
Publicado em: (1996)

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

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

Mutations in the chromatin-associated protein ATRX.
Por: Gibbons, R, et al.
Publicado em: (2008)

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

XNP/ATRX at sites of nucleosome replacement.
Por: Garrick, D, et al.
Publicado em: (2009)

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

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

α-Thalassemia, mental retardation, and myelodysplastic syndrome.
Por: Gibbons, R
Publicado em: (2012)

Acquired alpha thalassaemia in myelodysplastic syndrome
Por: Cheong, P
Publicado em: (2018)

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

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

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

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

Disruption of ATRX in mouse by conditional knockout.
Por: Gibbons, R, et al.
Publicado em: (2002)

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

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

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

ATRX and the replication of structured DNA.
Por: Clynes, D, et al.
Publicado em: (2013)

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

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

THE ALPHA-THALASSEMIAS
Por: Higgs, D, et al.
Publicado em: (1990)

The alpha-thalassemias.
Por: Higgs, D, et al.
Publicado em: (1990)

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

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