Sankararaman S, Schindler T
Pediatric Health Med Ther. 2023; 14:361-378.
PMID: 37908317
PMC: 10615098.
DOI: 10.2147/PHMT.S402589.
Chen C, Guan M
J Biomed Sci. 2023; 30(1):82.
PMID: 37737178
PMC: 10515435.
DOI: 10.1186/s12929-023-00967-7.
Belgacem Z, Dubois S, Jacoby E, Martin P, Parikh S, Fleming M
Am J Hematol. 2023; 98(12):E376-E379.
PMID: 37732815
PMC: 10841150.
DOI: 10.1002/ajh.27107.
Tolle I, Tiranti V, Prigione A
EMBO Rep. 2023; 24(4):e55678.
PMID: 36876467
PMC: 10074100.
DOI: 10.15252/embr.202255678.
Miliotou A, Foltopoulou P, Ingendoh-Tsakmakidis A, Tsiftsoglou A, Vizirianakis I, Pappas I
Pharmaceutics. 2023; 15(1).
PMID: 36678915
PMC: 9861957.
DOI: 10.3390/pharmaceutics15010286.
Development of the human pancreas and its exocrine function.
Mehta V, Hopson P, Smadi Y, Patel S, Horvath K, Mehta D
Front Pediatr. 2022; 10:909648.
PMID: 36245741
PMC: 9557127.
DOI: 10.3389/fped.2022.909648.
Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.
Mahmud S, Biswas S, Afrose S, Mita M, Hasan M, Shimu M
Curr Issues Mol Biol. 2022; 44(3):1127-1148.
PMID: 35723297
PMC: 8947152.
DOI: 10.3390/cimb44030074.
Two Novel Variants in Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.
Carreno-Gago L, Juarez-Flores D, Grau J, Ramon J, Lozano E, Vila-Julia F
J Clin Med. 2021; 10(16).
PMID: 34441767
PMC: 8397107.
DOI: 10.3390/jcm10163471.
Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.
Bernardino Gomes T, Ng Y, Pickett S, Turnbull D, Vincent A
Hum Mol Genet. 2021; 30(R2):R245-R253.
PMID: 34169319
PMC: 8490015.
DOI: 10.1093/hmg/ddab156.
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
Alston C, Stenton S, Hudson G, Prokisch H, Taylor R
J Pathol. 2021; 254(4):430-442.
PMID: 33586140
PMC: 8600955.
DOI: 10.1002/path.5641.
Biallelic mutations presenting as sideroblastic anemia.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C
Haematologica. 2020; 106(4):1220-1225.
PMID: 33327715
PMC: 8018106.
DOI: 10.3324/haematol.2020.270710.
Mechanisms of replication and repair in mitochondrial DNA deletion formation.
Fontana G, Gahlon H
Nucleic Acids Res. 2020; 48(20):11244-11258.
PMID: 33021629
PMC: 7672454.
DOI: 10.1093/nar/gkaa804.
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
Wild K, Goldstein A, Muraresku C, Ganetzky R
Am J Med Genet A. 2019; 182(2):365-373.
PMID: 31825167
PMC: 7183758.
DOI: 10.1002/ajmg.a.61433.
Pancreatitis: TIGAR-O Version 2 Risk/Etiology Checklist With Topic Reviews, Updates, and Use Primers.
Whitcomb D
Clin Transl Gastroenterol. 2019; 10(6):e00027.
PMID: 31166201
PMC: 6613863.
DOI: 10.14309/ctg.0000000000000027.
The molecular genetics of sideroblastic anemia.
Ducamp S, Fleming M
Blood. 2018; 133(1):59-69.
PMID: 30401706
PMC: 6318428.
DOI: 10.1182/blood-2018-08-815951.
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
Metodiev M, Assouline Z, Landrieu P, Chretien D, Bader-Meunier B, Guitton C
Eur J Hum Genet. 2014; 23(6):880-2.
PMID: 25227147
PMC: 4795040.
DOI: 10.1038/ejhg.2014.192.
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.
Gagne K, Ghazvinian R, Yuan D, Zon R, Storm K, Mazur-Popinska M
Blood. 2014; 124(3):437-40.
PMID: 24735966
PMC: 4102714.
DOI: 10.1182/blood-2014-01-545830.
Gastrointestinal and hepatic manifestations of mitochondrial disorders.
Rahman S
J Inherit Metab Dis. 2013; 36(4):659-73.
PMID: 23674168
DOI: 10.1007/s10545-013-9614-2.
Induced pluripotent stem cells with a mitochondrial DNA deletion.
Cherry A, Gagne K, McLoughlin E, Baccei A, Gorman B, Hartung O
Stem Cells. 2013; 31(7):1287-97.
PMID: 23400930
PMC: 3692613.
DOI: 10.1002/stem.1354.
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
Bergmann A, Campagna D, McLoughlin E, Agarwal S, Fleming M, Bottomley S
Pediatr Blood Cancer. 2009; 54(2):273-8.
PMID: 19731322
PMC: 2843911.
DOI: 10.1002/pbc.22244.