Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping-Reference-Cited by-同舟云学术

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Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping

Published:1997-12 Issue:6 Volume:61 Page:1335-1341
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Neufeld Ellis J.,Mandel Hanna,Raz Tal,Szargel Raymonde,Yandava Chandri N.,Stagg Amy,Fauré Sabine,Barrett Timothy,Buist Neil,Cohen Nadine

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Diabetes mellitus, thiamine dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity;Abboud;J Pediatr,1985

2. Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness;Akinci;Acta Paediatr Jpn,1993

3. Molecular genotyping shows that ataxia-telangiectasia hetrozygotes are predisposed to breast cancer;Athma;Cancer Genet Cytogenet,1996

4. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome;Barrientos;J Clin Invest,1996

5. Thiamine responsive anemia in DIDMOAD syndrome;Borgna-Pignatti;J Pediatr,1989

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1. An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia;Indian Journal of Pathology and Microbiology;2023-09-05

2. Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision;Current Diabetes Reports;2022-07-05

3. Thiamine-Responsive Megaloblastic Anemia-Related Diabetes: Long-Term Clinical Outcomes in 23 Pediatric Patients From the DPV and SWEET Registries;Canadian Journal of Diabetes;2021-08

4. Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country;Journal of Pediatric Endocrinology and Metabolism;2021-06-30

5. Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia;Clinica Chimica Acta;2021-05

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