[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].

Mostra altre versioni (1)

Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual impairment, mus...

Descrizione completa

Dettagli Bibliografici
Autori principali:	Szczałuba, K, Obersztyn, E, Nowakowska, B, Bernaciak, J, Fisher, C, Gibbons, R, Mazurczak, T, Bocian, E
Natura:	Journal article
Lingua:	Polish
Pubblicazione:	2011

Documenti analoghi

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

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
di: Reardon, W, et al.
Pubblicazione: (1995)

ATR-X: α-Thalassemia Mental Retardation-X-Linked
di: Gibbons, R
Pubblicazione: (2010)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
di: Gibbons, R, et al.
Pubblicazione: (1995)

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

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

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
di: Logie, L, et al.
Pubblicazione: (1994)

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

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

The α-thalassemia/mental retardation syndromes
di: Gibbons, R, et al.
Pubblicazione: (1996)

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

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
di: Saugier-Veber, P, et al.
Pubblicazione: (1995)

THE USE OF EXCLUSION MAPPING TO DEFINE THE SEGMENT OF 16P13.3 INVOLVED IN THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
di: Raynham, H, et al.
Pubblicazione: (1993)

Alpha thalassaemia-mental retardation, X linked
di: Gibbons, R
Pubblicazione: (2006)

Alpha thalassaemia-mental retardation, X linked.
di: Gibbons, R
Pubblicazione: (2006)

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

THE ALPHA-THALASSEMIAS
di: Higgs, D, et al.
Pubblicazione: (1990)

The alpha-thalassemias.
di: Higgs, D, et al.
Pubblicazione: (1990)

Risk Factors to Growth Retardation in Major Thalassemia
di: Riva Uda, et al.
Pubblicazione: (2011-03-01)

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

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
di: Travali Salvatore, et al.
Pubblicazione: (2010-07-01)

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

Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
di: Rimshah Shaukat, et al.
Pubblicazione: (2016-07-01)

Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).
di: Haas, P, et al.
Pubblicazione: (2006)

ATR-X AS A CAUSE OF MALE PSEUDOHERMAPHRODITISM
di: Mcpherson, E, et al.
Pubblicazione: (1993)

Premarital Counseling on the Alpha Thalassemia Allele <i>HBA2</i>:c.*94A>G
di: Latifa Alderei, et al.
Pubblicazione: (2024-06-01)

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

Asplenia in ATR-X syndrome: a second report.
di: Leahy, RT, et al.
Pubblicazione: (2005)

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

Germline and gonosomal mosaicism in the ATR-X syndrome.
di: Bachoo, S, et al.
Pubblicazione: (1999)

Incidence of alpha-thalassemia in Turkey
di: S Ozsoylu, et al.
Pubblicazione: (1982-10-01)

Talassemias alfa Alpha thalassemias
di: Rodolfo D. Cançado
Pubblicazione: (2006-06-01)

Alpha thalassemia genotypes in Kuwait
di: Adekunle Adekile, et al.
Pubblicazione: (2020-08-01)

Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential
di: Jenny He, et al.
Pubblicazione: (2018-01-01)

Correction: Characterization of the Drosophila Group Ortholog to the Amino-Terminus of the Alpha-Thalassemia and Mental Retardation X-Linked (ATRX) Vertebrate Protein.
di: Brenda López-Falcón, et al.
Pubblicazione: (2016-01-01)

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

Molecular-clinical spectrum of the ATR-X syndrome.
di: Gibbons, R, et al.
Pubblicazione: (2000)

Gastrointestinal phenotype of ATR-X syndrome.
di: Martucciello, G, et al.
Pubblicazione: (2006)

Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia.
di: Higgs, D, et al.
Pubblicazione: (2005)

Alpha‐thalassemia. Case report alpha‐thalassemia in a Costa Rican family, A case report
di: Mariela Solano‐Vargas, et al.
Pubblicazione: (2021-01-01)