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).

Détails bibliographiques
Auteurs principaux:	Haas, P, Schwabe, M, Fisher, C, Gibbons, R, Higgs, D, Bisse, E, Luebbert, M
Format:	Conference item
Publié:	2006

Documents similaires

Acquired alpha-thalassaernia in association with myelodysplastic syndrome (ATMDS): Two further private ATRX mutations
par: Fisher, C, et autres
Publié: (2007)

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

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

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

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

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

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

Identification of acquired somatic mutations in the chromatin remodelling factor ATRX in the a thalassaemia myelodysplasia syndrome (ATMDS)
par: Gibbons, R, et autres
Publié: (2003)

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

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.
par: Steensma, D, et autres
Publié: (2005)

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

Identification of mutations in ATRX by RNase mismatch cleavage.
par: Gibbons, R, et autres
Publié: (1997)

5-Azacytidine treatment of the patient with ATMDS (vol 76, pg 432, 2006)
par: Costa, D, et autres
Publié: (2006)

ATRX: taming tandem repeats.
par: Gibbons, R, et autres
Publié: (2010)

Functional significance of mutations in the Snf2 domain of ATRX.
par: Mitson, M, et autres
Publié: (2011)

The alpha-thalassemia/mental retardation syndromes.
par: Gibbons, R, et autres
Publié: (1996)

PB2029: ACQUIRED ALPHA THALASSEMIA IN ASSOCIATION WITH MYELODYSPLASTIC SYNDROME- A CASE REPORT
par: Priyavadhana Balasubramanian, et autres
Publié: (2023-08-01)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
par: Law, M, et autres
Publié: (2003)

Mutations in the chromatin-associated protein ATRX.
par: Gibbons, R, et autres
Publié: (2008)

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

XNP/ATRX at sites of nucleosome replacement.
par: Garrick, D, et autres
Publié: (2009)

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
par: Guerrini, R, et autres
Publié: (2000)

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
par: Shaomin Wu, et autres
Publié: (2022-01-01)

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

Acquired alpha thalassaemia in myelodysplastic syndrome
par: Cheong, P
Publié: (2018)

The chromatin remodeller ATRX: A repeat offender in human disease
par: Clynes, D, et autres
Publié: (2013)

The chromatin remodeller ATRX: a repeat offender in human disease.
par: Clynes, D, et autres
Publié: (2013)

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

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

Disruption of ATRX in mouse by conditional knockout.
par: Gibbons, R, et autres
Publié: (2002)

The loss of ATRX increases susceptibility to pancreatic injury and oncogenic KRAS in female but not male mice
par: Young, C, et autres
Publié: (2018)

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

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
par: Gibbons, R, et autres
Publié: (1995)

ATRX and the replication of structured DNA.
par: Clynes, D, et autres
Publié: (2013)

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

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

THE ALPHA-THALASSEMIAS
par: Higgs, D, et autres
Publié: (1990)

The alpha-thalassemias.
par: Higgs, D, et autres
Publié: (1990)

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
par: Malik, N, et autres
Publié: (2006)

Melanesians and Polynesians share a unique alpha-thalassemia mutation.
par: Hill, A, et autres
Publié: (1985)