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Items: 1 to 20 of 153

1.

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
2.
3.

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
4.

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
5.

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.

Arranz JA, Madrigal I, Riudor E, Armengol L, Milà M.

J Inherit Metab Dis. 2007 Oct;30(5):813. Epub 2007 Jun 14.

PMID:
17570074
6.

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
7.

Family studies in ornithine transcarbamylase deficiency.

Svirklys LG, Wilcken B, Hammond J, Mackinlay AG, O'Sullivan WJ.

Arch Dis Child. 1988 Mar;63(3):297-302.

8.

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
9.

Clinical application of DNA analysis in a family with OTC deficiency.

McClead RE Jr, Rozen R, Fox J, Rosenberg L, Menke J, Bickers R, Morrow G 3rd.

Am J Med Genet. 1986 Nov;25(3):513-8.

PMID:
2878615
10.

Toward a molecular understanding of ornithine transcarbamylase deficiency.

Fox JE, Rosenberg LE.

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

PMID:
2891259
11.

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
12.

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

Yorifuji T, Muroi J, Uematsu A, Tanaka K, Kiwaki K, Endo F, Matsuda I, Nagasaka H, Furusho K.

Clin Genet. 1998 Oct;54(4):349-53.

PMID:
9831349
13.

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A.

J Med Genet. 1992 Jul;29(7):471-5.

14.

Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.

Pembrey ME, Old JM, Leonard JV, Rodeck CH, Warren R, Davies KE.

J Med Genet. 1985 Dec;22(6):462-5.

16.

Restriction fragment length polymorphisms at the ornithine transcarbamylase locus in normal Chinese.

Wang TR, Hou JW, Tsai HM.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1990 Jul-Aug;31(4):221-5.

PMID:
1979899
17.

The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.

Maestri NE, Lord C, Glynn M, Bale A, Brusilow SW.

Medicine (Baltimore). 1998 Nov;77(6):389-97.

18.

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.

PMID:
10502831
19.

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
20.

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.

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