[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].

عرض إصدارات أخرى (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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Szczałuba, K, Obersztyn, E, Nowakowska, B, Bernaciak, J, Fisher, C, Gibbons, R, Mazurczak, T, Bocian, E
التنسيق:	Journal article
اللغة:	Polish
منشور في:	2011

مواد مشابهة

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
حسب: Szczałuba, K, وآخرون
منشور في: (2011)

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حسب: Reardon, W, وآخرون
منشور في: (1995)

ATR-X: α-Thalassemia Mental Retardation-X-Linked
حسب: Gibbons, R
منشور في: (2010)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
حسب: Gibbons, R, وآخرون
منشور في: (1995)

The alpha-thalassemia/mental retardation syndromes.
حسب: Gibbons, R, وآخرون
منشور في: (1996)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
حسب: Gibbons, R, وآخرون
منشور في: (1995)

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
حسب: Logie, L, وآخرون
منشور في: (1994)

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منشور في: (1995)

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حسب: Gibbons, R, وآخرون
منشور في: (1992)

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منشور في: (1996)

α-Thalassemia, mental retardation, and myelodysplastic syndrome.
حسب: Gibbons, R
منشور في: (2012)

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
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THE USE OF EXCLUSION MAPPING TO DEFINE THE SEGMENT OF 16P13.3 INVOLVED IN THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
حسب: Raynham, H, وآخرون
منشور في: (1993)

Alpha thalassaemia-mental retardation, X linked
حسب: Gibbons, R
منشور في: (2006)

Alpha thalassaemia-mental retardation, X linked.
حسب: Gibbons, R
منشور في: (2006)

Alpha thalassaemia-mental retardation, X linked
حسب: Gibbons Richard
منشور في: (2006-05-01)

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حسب: Higgs, D, وآخرون
منشور في: (1990)

Risk Factors to Growth Retardation in Major Thalassemia
حسب: Riva Uda, وآخرون
منشور في: (2011-03-01)

Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6
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منشور في: (2018-09-01)

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
حسب: Travali Salvatore, وآخرون
منشور في: (2010-07-01)

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.
حسب: Steensma, D, وآخرون
منشور في: (2005)

Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
حسب: Rimshah Shaukat, وآخرون
منشور في: (2016-07-01)

Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia of myelodysplastic syndrome (ATMDS).
حسب: Haas, P, وآخرون
منشور في: (2006)

ATR-X AS A CAUSE OF MALE PSEUDOHERMAPHRODITISM
حسب: Mcpherson, E, وآخرون
منشور في: (1993)

Premarital Counseling on the Alpha Thalassemia Allele <i>HBA2</i>:c.*94A>G
حسب: Latifa Alderei, وآخرون
منشور في: (2024-06-01)

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
حسب: Costa, D, وآخرون
منشور في: (2006)

Asplenia in ATR-X syndrome: a second report.
حسب: Leahy, RT, وآخرون
منشور في: (2005)

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.
حسب: Steensma, D, وآخرون
منشور في: (2004)

Germline and gonosomal mosaicism in the ATR-X syndrome.
حسب: Bachoo, S, وآخرون
منشور في: (1999)

Incidence of alpha-thalassemia in Turkey
حسب: S Ozsoylu, وآخرون
منشور في: (1982-10-01)

Talassemias alfa Alpha thalassemias
حسب: Rodolfo D. Cançado
منشور في: (2006-06-01)

Alpha thalassemia genotypes in Kuwait
حسب: Adekunle Adekile, وآخرون
منشور في: (2020-08-01)

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

Molecular-clinical spectrum of the ATR-X syndrome.
حسب: Gibbons, R, وآخرون
منشور في: (2000)

Gastrointestinal phenotype of ATR-X syndrome.
حسب: Martucciello, G, وآخرون
منشور في: (2006)

Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia.
حسب: Higgs, D, وآخرون
منشور في: (2005)

Alpha‐thalassemia. Case report alpha‐thalassemia in a Costa Rican family, A case report
حسب: Mariela Solano‐Vargas, وآخرون
منشور في: (2021-01-01)