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Items: 1 to 20 of 171

1.

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.

Schwartz M, Christensen E, Christensen NC, Skovby F, Davies KE, Old JM.

Clin Genet. 1986 May;29(5):449-52.

PMID:
3017613
2.

DNA analysis of ornithine transcarbamylase deficiency.

Wendel U, Wilichowski E, Schmidtke J, Bachmann C.

Eur J Pediatr. 1988 May;147(4):368-71.

PMID:
2899508
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
4.

Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis.

Liechti S, Dionisi Vici C, Bachmann C, Mazziotta MR, Bartuli A, Sabetta G.

J Inherit Metab Dis. 1990;13(6):888-90. No abstract available.

PMID:
1981921
5.

Toward a molecular understanding of ornithine transcarbamylase deficiency.

Fox JE, Rosenberg LE.

Adv Neurol. 1988;48:71-81. No abstract available.

PMID:
2891259
6.

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
8.
9.

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
10.

Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency.

Spence JE, Maddalena A, O'Brien WE, Fernbach SD, Batshaw ML, Leonard CO, Beaudet AL.

J Pediatr. 1989 Apr;114(4 Pt 1):582-8.

PMID:
2564432
11.

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
12.

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
13.

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
14.

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.

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

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

PMID:
11180228
15.

Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.

Oppliger Leibundgut EO, Wermuth B, Colombo JP, Liechti-Gallati S.

Hum Mutat. 1996;8(4):333-9.

PMID:
8956038
16.

[Genetic counseling in ornithine carbamoyltransferase deficiency].

Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A.

Ann Biol Clin (Paris). 1988;46(7):455-9. French.

PMID:
2903704
17.

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.

Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E.

Hum Mutat. 2000 Apr;15(4):380-1.

PMID:
10737985
18.

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
19.

Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

Hoshide R, Matsuura T, Komaki S, Koike E, Ueno I, Matsuda I.

J Inherit Metab Dis. 1993;16(5):857-62. No abstract available.

PMID:
8295401
20.

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.

Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carré M, Rouleau FP, Menget A, Bonardi JM, et al.

Prenat Diagn. 1995 Aug;15(8):757-61.

PMID:
7479595

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