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Items: 1 to 20 of 127

2.

Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.

Isbrandt D, von Figura K.

Biochim Biophys Acta. 1995 Dec 27;1264(3):265-7.

PMID:
8547310
3.

The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10.

Chae YJ, Chung CE, Kim BJ, Lee MH, Lee H.

Genomics. 1998 Apr 1;49(1):162-4. No abstract available.

PMID:
9570966
4.

Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints.

Puttagunta R, Gordon LA, Meyer GE, Kapfhamer D, Lamerdin JE, Kantheti P, Portman KM, Chung WK, Jenne DE, Olsen AS, Burmeister M.

Genome Res. 2000 Sep;10(9):1369-80.

5.

Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice.

Burwinkel B, Miglierini G, Jenne DE, Gilbert DJ, Copeland NG, Jenkins NA, Ring HZ, Francke U, Kilimann MW.

Genomics. 1998 May 1;49(3):462-6.

PMID:
9615234
6.

The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3.

Kapfhamer D, Sweet HO, Sufalko D, Warren S, Johnson KR, Burmeister M.

Genomics. 1996 Aug 1;35(3):533-8.

PMID:
8812488
7.

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.

Schmidt A, Marescau B, Boehm EA, Renema WK, Peco R, Das A, Steinfeld R, Chan S, Wallis J, Davidoff M, Ullrich K, Waldschütz R, Heerschap A, De Deyn PP, Neubauer S, Isbrandt D.

Hum Mol Genet. 2004 May 1;13(9):905-21. Epub 2004 Mar 17.

8.

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.

Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K.

Am J Hum Genet. 1996 May;58(5):914-22.

9.

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

Bomar JM, Benke PJ, Slattery EL, Puttagunta R, Taylor LP, Seong E, Nystuen A, Chen W, Albin RL, Patel PD, Kittles RA, Sheffield VC, Burmeister M.

Nat Genet. 2003 Nov;35(3):264-9. Epub 2003 Oct 12. Erratum in: Nat Genet. 2005 May;37(5):555.

PMID:
14556008
10.

Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes.

Cooper PR, Nowak NJ, Higgins MJ, Church DM, Shows TB.

Genomics. 1998 May 1;49(3):419-29.

PMID:
9615227
11.

The human Met-ase gene (GZMM): structure, sequence, and close physical linkage to the serine protease gene cluster on 19p13.3.

Pilat D, Fink T, Obermaier-Skrobanek B, Zimmer M, Wekerle H, Lichter P, Jenne DE.

Genomics. 1994 Dec;24(3):445-50.

PMID:
7713495
12.

Cloning and sequencing of complement component C9 and its linkage to DOC-2 in the pufferfish Fugu rubripes.

Yeo GS, Elgar G, Sandford R, Brenner S.

Gene. 1997 Oct 24;200(1-2):203-11.

PMID:
9373156
15.

Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.

Item CB, Stöckler-Ipsiroglu S, Willheim C, Mühl A, Bodamer OA.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):328-34. Epub 2005 Jul 28.

PMID:
16054853
16.

Physical mapping of receptor type protein tyrosine phosphatase sigma (PTPRS) to human chromosome 19p13.3.

Wagner J, Gordon LA, Heng HH, Tremblay ML, Olsen AS.

Genomics. 1996 Nov 15;38(1):76-8.

PMID:
8954782
17.
18.

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.

Morita R, Miyazaki E, Fong CY, Chen XN, Korenberg JR, Delgado-Escueta AV, Yamakawa K.

Biochem Biophys Res Commun. 1998 Jul 20;248(2):307-14. Erratum in: Biochem Biophys Res Commun 1998 Sep 18;250(2):536.

PMID:
9675132
20.

Genomic organization and chromosomal localization of the mouse IKBKAP gene.

Coli R, Anderson SL, Volpi SA, Rubin BY.

Gene. 2001 Nov 14;279(1):81-9.

PMID:
11722848
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