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Results: 1 to 20 of 107

1.

A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.

Li CM, Chao HK, Liu YF, Su TS.

Eur J Hum Genet. 2001 Sep;9(9):685-9.

PMID:
11571557
[PubMed - indexed for MEDLINE]
Free Article
2.

Mutation analysis of Korean patients with citrullinemia.

Hong KM, Shin CH, Choi YB, Song WK, Lee SD, Rhee KI, Jang P, Pak GS, Kim JK, Paik MK, Hahn SH.

Mol Cells. 2000 Aug 31;10(4):465-8.

PMID:
10987146
[PubMed - indexed for MEDLINE]
Free Article
3.
4.

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T.

Hum Mutat. 2003 Jul;22(1):24-34.

PMID:
12815590
[PubMed - indexed for MEDLINE]
6.

Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

Vilaseca MA, Kobayashi K, Briones P, Lambruschini N, Campistol J, Tabata A, Alomar A, Rodès M, Lluch M, Saheki T.

Mol Genet Metab. 2001 Nov;74(3):396-8.

PMID:
11708871
[PubMed - indexed for MEDLINE]
7.

Molecular definition of bovine argininosuccinate synthetase deficiency.

Dennis JA, Healy PJ, Beaudet AL, O'Brien WE.

Proc Natl Acad Sci U S A. 1989 Oct;86(20):7947-51.

PMID:
2813370
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

Chan SS, Longley MJ, Naviaux RK, Copeland WC.

DNA Repair (Amst). 2005 Dec 8;4(12):1381-9. Epub 2005 Sep 21.

PMID:
16181814
[PubMed - indexed for MEDLINE]
9.

Abnormal mRNA for argininosuccinate synthetase in citrullinaemia.

Su TS, Beaudet AL, O'Brien WE.

Nature. 1983 Feb 10;301(5900):533-4.

PMID:
6823333
[PubMed - indexed for MEDLINE]
10.

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

Willing MC, Deschenes SP, Slayton RL, Roberts EJ.

Am J Hum Genet. 1996 Oct;59(4):799-809.

PMID:
8808594
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Reciprocal regulation of glycine-rich RNA-binding proteins via an interlocked feedback loop coupling alternative splicing to nonsense-mediated decay in Arabidopsis.

Schöning JC, Streitner C, Meyer IM, Gao Y, Staiger D.

Nucleic Acids Res. 2008 Dec;36(22):6977-87. doi: 10.1093/nar/gkn847. Epub 2008 Nov 4.

PMID:
18987006
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4).

Abed AA, Günther K, Kraus C, Hohenberger W, Ballhausen WG.

Hum Mutat. 2001 Nov;18(5):397-410.

PMID:
11668633
[PubMed - indexed for MEDLINE]
13.

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M.

Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7.

PMID:
12714658
[PubMed - indexed for MEDLINE]
Free Article
14.
15.

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E.

Hum Mutat. 2002 Sep;20(3):180-8.

PMID:
12203990
[PubMed - indexed for MEDLINE]
16.

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.

Am J Hum Genet. 2001 Nov;69(5):989-1001. Epub 2001 Sep 27.

PMID:
11577371
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Early cirrhosis in a patient with type I citrullinaemia (CTLN1).

Güçer S, Aşan E, Atilla P, Tokatli A, Cağlar M.

J Inherit Metab Dis. 2004;27(4):541-2.

PMID:
15334737
[PubMed - indexed for MEDLINE]
18.

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

Inácio A, Silva AL, Pinto J, Ji X, Morgado A, Almeida F, Faustino P, Lavinha J, Liebhaber SA, Romão L.

J Biol Chem. 2004 Jul 30;279(31):32170-80. Epub 2004 May 25.

PMID:
15161914
[PubMed - indexed for MEDLINE]
Free Article
19.

Analysis of deletions at the human argininosuccinate synthetase locus.

Jackson MJ, Kobayashi K, Beaudet AL, O'Brien WE.

Mol Biol Med. 1989 Apr;6(2):179-86.

PMID:
2615645
[PubMed - indexed for MEDLINE]
20.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Hum Genet. 2009 Aug;126(2):342. No abstract available.

PMID:
19694026
[PubMed - indexed for MEDLINE]

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