Pearson syndrome and the role of deletion dimers and duplications in the mtDNA-Reference-Cited by-同舟云学术

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA

Published:2004-03 Issue:1 Volume:27 Page:47-55
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Jacobs L. J. A. M.¹,Jongbloed R. J. E.¹,Wijburg F. A.²,de Klerk J. B. C.³,Geraedts J. P. M.¹,Nijland J. G.¹,Scholte H. R.⁴,de Coo I. F. M.⁵,Smeets H. J. M.¹

Affiliation:

1. ; Department of Genetics and Cell Biology; University of Maastricht, Research Institute Growth and Development (GROW); Maastricht

2. ; Department of Paediatrics; Academic Medical Centre Amsterdam; Amsterdam

3. ; Department of Paediatrics; Erasmus-University Medical Center Rotterdam; Rotterdam The Netherlands

4. ; Department of Biochemistry; Erasmus-University Medical Center Rotterdam; Rotterdam The Netherlands

5. ; Department of Neurology; Erasmus-University Medical Center Rotterdam; Rotterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000016601.49372.18/fullpdf

Reference24 articles.

1. Mitochondrial diabetes revisited;Ballinger;Nature Genet,1994

2. Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus;Dunbar;Hum Mol Genet,1993

3. Multiple rearrangements of mitochondrial DNA in unfertilized human oocytes;Hsieh;Fertil Steril,2002

4. Retinitis pigmentosa, external opthalmoplegia, and complete heart block. Unusual syndrome with histologic study in one of two cases;Kearns;Arch Opthalmol,1958

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2. Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients;Frontiers in Genetics;2022-05-23

3. Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases;Experimental Biology and Medicine;2021-09-15

4. Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia;Molecular Genetics & Genomic Medicine;2020-10-08

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