Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 227

1.

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE.

Am J Hum Genet. 1986 Feb;38(2):149-58.

PMID:
3004207
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.

Liechti-Gallati S, Dionisi C, Bachmann C, Wermuth B, Colombo JP.

Enzyme. 1991;45(1-2):81-91.

PMID:
1806371
[PubMed - indexed for MEDLINE]
3.

DNA analysis for ornithine transcarbamylase deficiency.

Rozen R, Fox JE, Hack AM, Fenton WA, Horwich AL, Rosenberg LE.

J Inherit Metab Dis. 1986;9 Suppl 1:49-57.

PMID:
2878115
[PubMed - indexed for MEDLINE]
4.

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A.

Hum Genet. 1991 Dec;88(2):153-6.

PMID:
1721894
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
8830175
[PubMed - indexed for MEDLINE]
6.

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.

Ray PF, Gigarel N, Bonnefont JP, AttiƩ T, Hamamah S, Frydman N, Vekemans M, Frydman R, Munnich A.

Prenat Diagn. 2000 Dec;20(13):1048-54.

PMID:
11180228
[PubMed - indexed for MEDLINE]
7.

Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Grompe M, Caskey CT, Fenwick RG.

Am J Hum Genet. 1991 Feb;48(2):212-22.

PMID:
1671317
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

Rozen R, Fox J, Fenton WA, Horwich AL, Rosenberg LE.

Nature. 1985 Feb 28-Mar 6;313(6005):815-7.

PMID:
2983225
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
12083811
[PubMed - indexed for MEDLINE]
10.

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

Old JM, Briand PL, Purvis-Smith S, Howard NJ, Wilcken B, Hammond J, Pearson P, Cathelineau L, Williamson R, Davies KE.

Lancet. 1985 Jan 12;1(8420):73-5.

PMID:
2857026
[PubMed - indexed for MEDLINE]
11.

Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

Fox JE, Hack AM, Fenton WA, Rosenberg LE.

Am J Hum Genet. 1986 Jun;38(6):841-7.

PMID:
3014867
[PubMed - indexed for MEDLINE]
Free PMC Article
12.
13.

Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.

Komaki S, Matsuura T, Oyanagi K, Hoshide R, Kiwaki K, Endo F, Shimadzu M, Matsuda I.

Am J Med Genet. 1997 Mar 17;69(2):177-81.

PMID:
9056557
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
18204299
[PubMed - indexed for MEDLINE]
Free Article
15.

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.

Nishiyori A, Yoshino M, Kato H, Matsuura T, Hoshide R, Matsuda I, Kuno T, Miyazaki S, Hirose S, Kuromaru R, Mori M.

Hum Genet. 1997 Feb;99(2):171-6.

PMID:
9048915
[PubMed - indexed for MEDLINE]
16.

Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

Maddalena A, Spence JE, O'Brien WE, Nussbaum RL.

J Clin Invest. 1988 Oct;82(4):1353-8.

PMID:
3170748
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency.

Matsuda I, Hata A, Matsuura T, Tsuzuki T, Shimada K.

Clin Chim Acta. 1989 Dec 15;185(3):283-9.

PMID:
2575934
[PubMed - indexed for MEDLINE]
18.

Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.

Hoshide R, Matsuura T, Sagara Y, Kubo T, Shimadzu M, Endo F, Matsuda I.

Am J Med Genet. 1996 Aug 23;64(3):459-64.

PMID:
8862622
[PubMed - indexed for MEDLINE]
19.

Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood.

Watanabe A, Sekizawa A, Taguchi A, Saito H, Yanaihara T, Shimazu M, Matsuda I.

Hum Genet. 1998 Jun;102(6):611-5.

PMID:
9703419
[PubMed - indexed for MEDLINE]
20.

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA.

Am J Med Genet. 1997 Jan 20;68(2):236-9.

PMID:
9028466
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk