Rosenblatt DS - Search Results

1

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA. Tsai AC, et al. Among authors: rosenblatt ds. Am J Med Genet A. 2007 Oct 15;143A(20):2430-4. doi: 10.1002/ajmg.a.31932. Am J Med Genet A. 2007. PMID: 17853453

2

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: rosenblatt ds. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311595

3

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Morel CF, Lerner-Ellis JP, Rosenblatt DS. Morel CF, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2006 Aug;88(4):315-21. doi: 10.1016/j.ymgme.2006.04.001. Epub 2006 May 22. Mol Genet Metab. 2006. PMID: 16714133

4

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B. Lerner-Ellis JP, et al. Among authors: rosenblatt ds. Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001. Hum Mutat. 2009. PMID: 19370762

5

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS. Morel CF, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2005 Sep-Oct;86(1-2):160-71. doi: 10.1016/j.ymgme.2005.07.018. Mol Genet Metab. 2005. PMID: 16150626

6

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2006 Mar;87(3):219-25. doi: 10.1016/j.ymgme.2005.11.011. Epub 2006 Jan 10. Mol Genet Metab. 2006. PMID: 16410054

7

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. Yu HC, et al. Among authors: rosenblatt ds. Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022. Am J Hum Genet. 2013. PMID: 24011988 Free PMC article.

8

Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Coelho D, et al. Among authors: rosenblatt ds. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200. N Engl J Med. 2008. PMID: 18385497 Free article.

9

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA. Dobson CM, et al. Among authors: rosenblatt ds. Hum Mol Genet. 2002 Dec 15;11(26):3361-9. doi: 10.1093/hmg/11.26.3361. Hum Mol Genet. 2002. PMID: 12471062

10

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: rosenblatt ds. Hum Mutat. 2004 Dec;24(6):509-16. doi: 10.1002/humu.20104. Hum Mutat. 2004. PMID: 15523652

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