156 related articles for article (PubMed ID: 23821427)
1. Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val).
Jamroz E; Paprocka J; Sokół M; Popowska E; Ciara E
Neurol Neurochir Pol; 2013; 47(3):283-9. PubMed ID: 23821427
[TBL] [Abstract][Full Text] [Related]
2. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M; Jaleel N; Morizono H; Sheehy L; Lynch MG
Hum Mutat; 2002 Feb; 19(2):93-107. PubMed ID: 11793468
[TBL] [Abstract][Full Text] [Related]
3. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
Yamaguchi S; Brailey LL; Morizono H; Bale AE; Tuchman M
Hum Mutat; 2006 Jul; 27(7):626-32. PubMed ID: 16786505
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
Ogino W; Takeshima Y; Nishiyama A; Okizuka Y; Yagi M; Tsuneishi S; Saiki K; Kugo M; Matsuo M
Kobe J Med Sci; 2007; 53(5):229-40. PubMed ID: 18204299
[TBL] [Abstract][Full Text] [Related]
5. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
Climent C; Rubio V
Hum Mutat; 2002 Feb; 19(2):185-6. PubMed ID: 11793483
[TBL] [Abstract][Full Text] [Related]
6. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
Bisanzi S; Morrone A; Donati MA; Pasquini E; Spada M; Strisciuglio P; Parenti G; Parini R; Papadia F; Zammarchi E
Mol Genet Metab; 2002 Jun; 76(2):137-44. PubMed ID: 12083811
[TBL] [Abstract][Full Text] [Related]
7. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
Yoo HW; Kim GH; Lee DH
J Inherit Metab Dis; 1996; 19(1):31-42. PubMed ID: 8830175
[TBL] [Abstract][Full Text] [Related]
8. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH; Lee BH; Kim JH; Kim GH; Kim YM; Cho J; Cheon CK; Ko JM; Lee JH; Yoo HW
J Hum Genet; 2015 Sep; 60(9):501-7. PubMed ID: 25994866
[TBL] [Abstract][Full Text] [Related]
9. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M; Morizono H; Rajagopal BS; Plante RJ; Allewell NM
J Inherit Metab Dis; 1998; 21 Suppl 1():40-58. PubMed ID: 9686344
[TBL] [Abstract][Full Text] [Related]
10. Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.
Azevedo L; Vilarinho L; Teles EL; Amorim A
Mol Genet Metab; 2002 May; 76(1):68-70. PubMed ID: 12175783
[TBL] [Abstract][Full Text] [Related]
11. [Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].
Meng LL; Jiang T; Qin L; Ma DY; Chen YL; Han SP; Yu ZB; Guo XR; Hu P; Xu ZF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):195-8. PubMed ID: 23568734
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
Mohamed S; Hamad MH; Kondkar AA; Abu-Amero KK
Saudi Med J; 2015 Oct; 36(10):1229-32. PubMed ID: 26446336
[TBL] [Abstract][Full Text] [Related]
13. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
Climent C; García-Pérez MA; Sanjurjo P; Ruiz-Sanz JI; Vilaseca MA; Pineda M; Campistol J; Rubio V
Hum Mutat; 1999 Oct; 14(4):352-3. PubMed ID: 10502831
[TBL] [Abstract][Full Text] [Related]
14. Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
Rivera-Barahona A; Sánchez-Alcudia R; Viecelli HM; Rüfenacht V; Pérez B; Ugarte M; Häberle J; Thöny B; Desviat LR
PLoS One; 2015; 10(4):e0122966. PubMed ID: 25853564
[TBL] [Abstract][Full Text] [Related]
15. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
Lee JH; Kim GH; Yoo HW; Cheon CK
Pediatr Neurol; 2014 Sep; 51(3):354-359.e1. PubMed ID: 25011434
[TBL] [Abstract][Full Text] [Related]
16. Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L; Abdikarim I; Narain S; Tuchman M; Morizono H
J Genet Genomics; 2015 May; 42(5):181-94. PubMed ID: 26059767
[TBL] [Abstract][Full Text] [Related]
17. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
Arranz JA; Riudor E; Marco-Marín C; Rubio V
J Inherit Metab Dis; 2007 Apr; 30(2):217-26. PubMed ID: 17334707
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
Sun WH; Yang Y; Zhang YP; Li XT; Zhang M; Cao Y; Wang Y
Zhonghua Er Ke Za Zhi; 2011 May; 49(5):356-60. PubMed ID: 21624287
[TBL] [Abstract][Full Text] [Related]
19. [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
Gao H; Li W; Yan ZH; Jiang MH; Rui DR; He YS
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb; 20(1):19-22. PubMed ID: 12579493
[TBL] [Abstract][Full Text] [Related]
20. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
Li S; Cai Y; Shi C; Liu M; Liu B; Lin L; Xiao X; Hao H
Med Sci Monit; 2018 Oct; 24():7431-7437. PubMed ID: 30333473
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
