Literature DB >> 7712635

Ataxia-telangiectasia.

R A Gatti1.   

Abstract

Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia in an infant with lymphoma or leukemia may result in radiation therapy with conventional dosages, which is contraindicated in ataxia-telangiectasia patients.

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Year:  1995        PMID: 7712635

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  9 in total

Review 1.  Ophthalmic manifestations of immunodeficiency states.

Authors:  R Rescigno; M Dinowitz
Journal:  Clin Rev Allergy Immunol       Date:  2001-04       Impact factor: 8.667

2.  Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.

Authors:  Hacer Akturk; Murat Sutcu; Ayper Somer; Sanem Piskin; Manolya Acar; Meral Ozmen; Umut Altinoglu; Burak Tatli; Nuran Salman
Journal:  World J Pediatr       Date:  2017-01-25       Impact factor: 2.764

3.  Pituitary Changes in Ataxia-Telangiectasia Syndrome: An Immunocytochemical, In Situ Hybridization, and DNA Cytometric Study of Three Cases.

Authors:  Kalman Kovacs; Caterina Giannini; Bernd W. Scheithauer; Lucia Stefaneanu; Ricardo V. Lloyd; Eva Horvath
Journal:  Endocr Pathol       Date:  1997       Impact factor: 3.943

4.  Individual Cytokines Modulate the Neurological Symptoms of ATM Deficiency in a Region Specific Manner

Authors:  Chin Wai Hui; Karl Herrup
Journal:  eNeuro       Date:  2015-08-18

5.  Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.

Authors:  Fanghua Ye; Wenwen Chai; Minghua Yang; Min Xie; Liangchun Yang
Journal:  Mol Clin Oncol       Date:  2018-09-17

6.  Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Authors:  Michaela Pogoda; Franz-Joachim Hilke; Ebba Lohmann; Marc Sturm; Florian Lenz; Jakob Matthes; Francesc Muyas; Stephan Ossowski; Alexander Hoischen; Ulrike Faust; Ilnaz Sepahi; Nicolas Casadei; Sven Poths; Olaf Riess; Christopher Schroeder; Kathrin Grundmann
Journal:  Front Neurol       Date:  2019-12-18       Impact factor: 4.003

Review 7.  Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.

Authors:  Francesca Magrinelli; Bettina Balint; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2021-03-02

8.  Ataxia telangiectasia: A report of two cousins and review of literature.

Authors:  Anjali Sharma; Gurdeep Buxi; Rajbala Yadav; Ashok Kohli
Journal:  Indian J Med Paediatr Oncol       Date:  2011-10

9.  In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

Authors:  Elisa Pozzi; Elisa Giorgio; Cecilia Mancini; Nicola Lo Buono; Stefania Augeri; Marta Ferrero; Eleonora Di Gregorio; Evelise Riberi; Maria Vinciguerra; Lorenzo Nanetti; Federico Tommaso Bianchi; Maria Paola Sassi; Vincenzo Costanzo; Caterina Mariotti; Ada Funaro; Simona Cavalieri; Alfredo Brusco
Journal:  Sci Rep       Date:  2020-11-19       Impact factor: 4.379

  9 in total

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