128 related articles for article (PubMed ID: 21851494)
1. Miller syndrome with novel dihydroorotate dehydrogenase gene mutations.
Kinoshita F; Kondoh T; Komori K; Matsui T; Harada N; Yanai A; Fukuda M; Morifuji K; Matsumoto T
Pediatr Int; 2011 Aug; 53(4):587-91. PubMed ID: 21851494
[No Abstract] [Full Text] [Related]
2. Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
Duley JA; Henman MG; Carpenter KH; Bamshad MJ; Marshall GA; Ooi CY; Wilcken B; Pinner JR
Mol Genet Metab; 2016 Sep; 119(1-2):83-90. PubMed ID: 27370710
[TBL] [Abstract][Full Text] [Related]
3. Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.
Fang J; Uchiumi T; Yagi M; Matsumoto S; Amamoto R; Saito T; Takazaki S; Kanki T; Yamaza H; Nonaka K; Kang D
Biosci Rep; 2012 Dec; 32(6):631-9. PubMed ID: 22967083
[TBL] [Abstract][Full Text] [Related]
4. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
Rainger J; Bengani H; Campbell L; Anderson E; Sokhi K; Lam W; Riess A; Ansari M; Smithson S; Lees M; Mercer C; McKenzie K; Lengfeld T; Gener Querol B; Branney P; McKay S; Morrison H; Medina B; Robertson M; Kohlhase J; Gordon C; Kirk J; Wieczorek D; Fitzpatrick DR
Hum Mol Genet; 2012 Sep; 21(18):3969-83. PubMed ID: 22692683
[TBL] [Abstract][Full Text] [Related]
5. Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.
Fang J; Uchiumi T; Yagi M; Matsumoto S; Amamoto R; Takazaki S; Yamaza H; Nonaka K; Kang D
Biosci Rep; 2013 Feb; 33(2):e00021. PubMed ID: 23216091
[TBL] [Abstract][Full Text] [Related]
6. Finding disease variants in Mendelian disorders by using sequence data: methods and applications.
Ionita-Laza I; Makarov V; Yoon S; Raby B; Buxbaum J; Nicolae DL; Lin X
Am J Hum Genet; 2011 Dec; 89(6):701-12. PubMed ID: 22137099
[TBL] [Abstract][Full Text] [Related]
7. Extra phenotypic features in a girl with Miller syndrome.
Al Kaissi A; Roetzer KM; Ulz P; Heitzer E; Klaushofer K; Grill F
Clin Dysmorphol; 2011 Apr; 20(2):66-72. PubMed ID: 21346561
[TBL] [Abstract][Full Text] [Related]
8. Familial postaxial acrofacial dysostosis syndrome.
Giannotti A; Digilio MC; Virgili Q; Obregon MG; Guadagni AM; Ventura T; Dallapiccola B
J Med Genet; 1992 Oct; 29(10):752. PubMed ID: 1433242
[No Abstract] [Full Text] [Related]
9. Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.
Green B; Nikkhah D; Cobb AR; Dunaway DJ
J Plast Reconstr Aesthet Surg; 2013 Aug; 66(8):e234-5. PubMed ID: 23664577
[No Abstract] [Full Text] [Related]
10. Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts.
Fang J; Yamaza H; Uchiumi T; Hoshino Y; Masuda K; Hirofuji Y; Wagener FA; Kang D; Nonaka K
Eur J Oral Sci; 2016 Jun; 124(3):241-5. PubMed ID: 27086500
[TBL] [Abstract][Full Text] [Related]
11. Human genetics: Genomes on prescription.
Maher B
Nature; 2011 Oct; 478(7367):22-4. PubMed ID: 21979025
[No Abstract] [Full Text] [Related]
12. Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Roach JC; Glusman G; Smit AF; Huff CD; Hubley R; Shannon PT; Rowen L; Pant KP; Goodman N; Bamshad M; Shendure J; Drmanac R; Jorde LB; Hood L; Galas DJ
Science; 2010 Apr; 328(5978):636-9. PubMed ID: 20220176
[TBL] [Abstract][Full Text] [Related]
13. Facial dysostoses: Etiology, pathogenesis and management.
Trainor PA; Andrews BT
Am J Med Genet C Semin Med Genet; 2013 Nov; 163C(4):283-94. PubMed ID: 24123981
[TBL] [Abstract][Full Text] [Related]
14. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
Zhang Y; Dai Y; Liu Y; Ren J
Clin Genet; 2010 Dec; 78(6):570-4. PubMed ID: 20412112
[TBL] [Abstract][Full Text] [Related]
15. Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
Twigg SR; Ousager LB; Miller KA; Zhou Y; Elalaoui SC; Sefiani A; Bak GS; Hove H; Hansen LK; Fagerberg CR; Tajir M; Wilkie AO
Clin Genet; 2016 Sep; 90(3):270-5. PubMed ID: 26706854
[TBL] [Abstract][Full Text] [Related]
16. [Chronic atrial tachycardia of a particular type (Miller syndrome)].
CORDEIRO A
Gaz Med Port; 1948; 1(2):347-53. PubMed ID: 18881440
[No Abstract] [Full Text] [Related]
17. [Nager syndrome].
Opitz C; Shetty DK; Witkowski R
Mund Kiefer Gesichtschir; 1998 May; 2(3):122-6. PubMed ID: 9658800
[TBL] [Abstract][Full Text] [Related]
18. [Hanhart syndrome (aglossia-adactylia syndrome). Report of 2 cases].
Cañete Estrada R; Gil Rivas R; Alvarez Marcos R; Burón Romero A; Romanos Lezcano A
An Esp Pediatr; 1990 Nov; 33(5):465-8. PubMed ID: 2096762
[TBL] [Abstract][Full Text] [Related]
19. First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly.
Xu BQ; Zhen L; Li DZ
J Obstet Gynaecol; 2021 Jul; 41(5):821-823. PubMed ID: 32799722
[No Abstract] [Full Text] [Related]
20. Exome sequencing makes medical genomics a reality.
Biesecker LG
Nat Genet; 2010 Jan; 42(1):13-4. PubMed ID: 20037612
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]