Rommens JM - Search Results

1

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. Bull PC, et al. Among authors: rommens jm. Nat Genet. 1993 Dec;5(4):327-37. doi: 10.1038/ng1293-327. Nat Genet. 1993. PMID: 8298639

2

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM. Goobie S, et al. Among authors: rommens jm. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15. Am J Hum Genet. 2001. PMID: 11254457 Free PMC article.

3

Amplification of CFTR exon 9 sequences to multiple locations in the human genome.

Rozmahel R, Heng HH, Duncan AM, Shi XM, Rommens JM, Tsui LC. Rozmahel R, et al. Among authors: rommens jm. Genomics. 1997 Nov 1;45(3):554-61. doi: 10.1006/geno.1997.4968. Genomics. 1997. PMID: 9367680

4

Chromosomal localization of the human homeo box-containing genes, EN1 and EN2.

Logan C, Willard HF, Rommens JM, Joyner AL. Logan C, et al. Among authors: rommens jm. Genomics. 1989 Feb;4(2):206-9. doi: 10.1016/0888-7543(89)90301-7. Genomics. 1989. PMID: 2567700

5

Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis.

Rommens JM, Zengerling-Lentes S, Kerem B, Melmer G, Buchwald M, Tsui LC. Rommens JM, et al. Am J Hum Genet. 1989 Dec;45(6):932-41. Am J Hum Genet. 1989. PMID: 2589321 Free PMC article.

6

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.

Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Cossio OH, Sørensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. Lafrenière RG, et al. Among authors: rommens jm. Nat Genet. 1997 Mar;15(3):298-302. doi: 10.1038/ng0397-298. Nat Genet. 1997. PMID: 9054946

7

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. Matsuura T, et al. Among authors: rommens jm. Nat Genet. 1997 Jan;15(1):74-7. doi: 10.1038/ng0197-74. Nat Genet. 1997. PMID: 8988172

8

Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected].

Lin B, Nasir J, MacDonald H, Hutchinson G, Graham RK, Rommens JM, Hayden MR. Lin B, et al. Among authors: rommens jm. Hum Mol Genet. 1994 Jan;3(1):85-92. doi: 10.1093/hmg/3.1.85. Hum Mol Genet. 1994. PMID: 8162057

9

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA. Leclerc D, et al. Among authors: rommens jm. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3059-64. doi: 10.1073/pnas.95.6.3059. Proc Natl Acad Sci U S A. 1998. PMID: 9501215 Free PMC article.

10

Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.

Lafrenière RG, Kibar Z, Rochefort DL, Han FY, Fon EA, Dubé MP, Kang X, Baird S, Korneluk RG, Rommens JM, Rouleau GA. Lafrenière RG, et al. Among authors: rommens jm. Gene. 1997 Oct 1;198(1-2):313-21. doi: 10.1016/s0378-1119(97)00333-8. Gene. 1997. PMID: 9370297

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