Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.

Nogueira C, Marques JS, Nesti C, Azevedo L, Di Lullo M, Meschini MC, Orlacchio A, Santorelli FM, Vilarinho L.

Mol Genet Metab. 2013 Dec;110(4):493-4. doi: 10.1016/j.ymgme.2013.09.010. No abstract available.

PMID:
24148156
2.

A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Kintarak J, Liewluck T, Sangruchi T, Hirano M, Kulkantrakorn K, Muengtaweepongsa S.

Clin Neurol Neurosurg. 2007 Sep;109(7):613-6.

PMID:
17544574
3.

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Libernini L, Lupis C, Mastrangelo M, Carrozzo R, Santorelli FM, Inghilleri M, Leuzzi V.

Neuropediatrics. 2012 Aug;43(4):201-8. doi: 10.1055/s-0032-1315431.

PMID:
22618301
4.

A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.

Lorda-Sanchez I, Garcia-Ruiz PJ, Rodriguez de Alba M, Montoya J, Playan A, Sarasa JL, Trujillo MJ, Sanz R, Ramos C, Ayuso C.

Genet Couns. 2000;11(3):261-5.

PMID:
11043434
5.

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ.

J Hum Genet. 2011 Dec;56(12):834-9. doi: 10.1038/jhg.2011.112.

PMID:
22011815
6.

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK.

Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625.

PMID:
23225330
7.

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB.

Eur J Med Genet. 2016 Oct;59(10):540-5. doi: 10.1016/j.ejmg.2016.08.012.

PMID:
27592148
8.

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

Hirano M, Garcia-de-Yebenes J, Jones AC, Nishino I, DiMauro S, Carlo JR, Bender AN, Hahn AF, Salberg LM, Weeks DE, Nygaard TG.

Am J Hum Genet. 1998 Aug;63(2):526-33.

9.

Recalcitrant vomiting, disturbed eye movements, and leukoencephalopathy. Mitochondrial neurogastrointestinal encephalomyopathy.

Zimmer V, Zimmer A, Hirano M, Lammert F.

Gastroenterology. 2009 Nov;137(5):1581, 1861. doi: 10.1053/j.gastro.2009.06.056. No abstract available.

PMID:
19789089
10.

Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus.

Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A.

Prenat Diagn. 2002 May;22(5):418-21. Erratum in: Prenat Diagn 2002 Nov;22(11):1056.

PMID:
12001199
11.

Mitochondrial encephalomyopathies.

DiMauro S.

Brain Pathol. 1992 Apr;2(2):111-2. Review. No abstract available.

PMID:
1341951
12.

[Mitochondrial neurogastrointestinal encephalopathy syndrome].

Grechanina IuB.

Lik Sprava. 2014 Nov;(11):146-8. Russian.

PMID:
25528855
13.

[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].

Mergenthaler S, Dobos M, Wollmann H, Eggermann K, Schwanitz G, Eggermann T.

Orv Hetil. 2001 Jul 22;142(29):1561-4. Hungarian.

PMID:
11494748
14.

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

Cámara Y, González-Vioque E, Scarpelli M, Torres-Torronteras J, Caballero A, Hirano M, Martí R.

Hum Mol Genet. 2014 May 1;23(9):2459-67. doi: 10.1093/hmg/ddt641.

PMID:
24362886
15.

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Haudry C, de Lonlay P, Malan V, Bole-Feysot C, Assouline Z, Pruvost S, Brassier A, Bonnefont JP, Munnich A, Rötig A, Lebre AS.

Mol Genet Metab. 2012 Dec;107(4):700-4. doi: 10.1016/j.ymgme.2012.10.008.

PMID:
23141463
16.

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

Slama A, Lacroix C, Plante-Bordeneuve V, Lombès A, Conti M, Reimund JM, Auxenfants E, Crenn P, Laforêt P, Joannard A, Seguy D, Pillant H, Joly P, Haut S, Messing B, Said G, Legrand A, Guiochon-Mantel A.

Mol Genet Metab. 2005 Apr;84(4):326-31.

PMID:
15781193
17.

Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia.

Natsuga K, Nishie W, Arita K, Shinkuma S, Nakamura H, Kubota S, Imakado S, Akiyama M, Shimizu H.

J Invest Dermatol. 2010 Nov;130(11):2671-4. doi: 10.1038/jid.2010.182. No abstract available.

18.

Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy.

Karyampudi A, Srivastava P, Mandal K, Yadav P, Ghoshal UC, Verma A, Phadke SR.

Clin Dysmorphol. 2016 Oct;25(4):156-62. doi: 10.1097/MCD.0000000000000137. No abstract available.

PMID:
27261974
19.

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.

Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL.

J Med Genet. 2008 Jun;45(6):396-9. doi: 10.1136/jmg.2007.057059.

PMID:
18474587
20.

A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.

Roberts S, Maggouta F, Thompson R, Price S, Thomas S.

J Med Genet. 2002 Feb;39(2):E9. No abstract available.

Supplemental Content

Support Center