[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].

अन्य संस्करण दिखाएं (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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Szczałuba, K, Obersztyn, E, Nowakowska, B, Bernaciak, J, Fisher, C, Gibbons, R, Mazurczak, T, Bocian, E
स्वरूप:	Journal article
भाषा:	Polish
प्रकाशित:	2011

समान संसाधन

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
द्वारा: Szczałuba, K, और अन्य
प्रकाशित: (2011)

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
द्वारा: Reardon, W, और अन्य
प्रकाशित: (1995)

ATR-X: α-Thalassemia Mental Retardation-X-Linked
द्वारा: Gibbons, R
प्रकाशित: (2010)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1995)

The alpha-thalassemia/mental retardation syndromes.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1996)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1995)

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
द्वारा: Logie, L, और अन्य
प्रकाशित: (1994)

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

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1992)

The α-thalassemia/mental retardation syndromes
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1996)

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

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
द्वारा: Saugier-Veber, P, और अन्य
प्रकाशित: (1995)

THE USE OF EXCLUSION MAPPING TO DEFINE THE SEGMENT OF 16P13.3 INVOLVED IN THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
द्वारा: Raynham, H, और अन्य
प्रकाशित: (1993)

Alpha thalassaemia-mental retardation, X linked
द्वारा: Gibbons, R
प्रकाशित: (2006)

Alpha thalassaemia-mental retardation, X linked.
द्वारा: Gibbons, R
प्रकाशित: (2006)

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

THE ALPHA-THALASSEMIAS
द्वारा: Higgs, D, और अन्य
प्रकाशित: (1990)

The alpha-thalassemias.
द्वारा: Higgs, D, और अन्य
प्रकाशित: (1990)

Risk Factors to Growth Retardation in Major Thalassemia
द्वारा: Riva Uda, और अन्य
प्रकाशित: (2011-03-01)

Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6
द्वारा: Mika K. Kaneko, और अन्य
प्रकाशित: (2018-09-01)

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
द्वारा: Travali Salvatore, और अन्य
प्रकाशित: (2010-07-01)

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.
द्वारा: Steensma, D, और अन्य
प्रकाशित: (2005)

Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
द्वारा: Rimshah Shaukat, और अन्य
प्रकाशित: (2016-07-01)

Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).
द्वारा: Haas, P, और अन्य
प्रकाशित: (2006)

ATR-X AS A CAUSE OF MALE PSEUDOHERMAPHRODITISM
द्वारा: Mcpherson, E, और अन्य
प्रकाशित: (1993)

Premarital Counseling on the Alpha Thalassemia Allele <i>HBA2</i>:c.*94A>G
द्वारा: Latifa Alderei, और अन्य
प्रकाशित: (2024-06-01)

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
द्वारा: Costa, D, और अन्य
प्रकाशित: (2006)

Asplenia in ATR-X syndrome: a second report.
द्वारा: Leahy, RT, और अन्य
प्रकाशित: (2005)

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.
द्वारा: Steensma, D, और अन्य
प्रकाशित: (2004)

Germline and gonosomal mosaicism in the ATR-X syndrome.
द्वारा: Bachoo, S, और अन्य
प्रकाशित: (1999)

Incidence of alpha-thalassemia in Turkey
द्वारा: S Ozsoylu, और अन्य
प्रकाशित: (1982-10-01)

Talassemias alfa Alpha thalassemias
द्वारा: Rodolfo D. Cançado
प्रकाशित: (2006-06-01)

Alpha thalassemia genotypes in Kuwait
द्वारा: Adekunle Adekile, और अन्य
प्रकाशित: (2020-08-01)

Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential
द्वारा: Jenny He, और अन्य
प्रकाशित: (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.
द्वारा: Brenda López-Falcón, और अन्य
प्रकाशित: (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.
द्वारा: Steensma, D, और अन्य
प्रकाशित: (2003)

Molecular-clinical spectrum of the ATR-X syndrome.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (2000)

Gastrointestinal phenotype of ATR-X syndrome.
द्वारा: Martucciello, G, और अन्य
प्रकाशित: (2006)

Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia.
द्वारा: Higgs, D, और अन्य
प्रकाशित: (2005)

Alpha‐thalassemia. Case report alpha‐thalassemia in a Costa Rican family, A case report
द्वारा: Mariela Solano‐Vargas, और अन्य
प्रकाशित: (2021-01-01)