Rosenblatt DS - Search Results

1

Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis.

El Helou J, Perry TB, Anastasio N, Holbrook KA, Rosenblatt DS. El Helou J, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2022 Apr;135(4):309-310. doi: 10.1016/j.ymgme.2022.02.004. Epub 2022 Feb 18. Mol Genet Metab. 2022. PMID: 35216886 No abstract available.

2

Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta.

Bascunana C, El Helou J, Rauch FT, Bardai G, Glorieux FH, Riviere JB, Byers P, Kaplan PB, Rosenblatt DS. Bascunana C, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2020 Sep-Oct;131(1-2):114-115. doi: 10.1016/j.ymgme.2020.06.012. Epub 2020 Jul 8. Mol Genet Metab. 2020. PMID: 32690443 No abstract available.

3

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

Loewy AD, Niles KM, Anastasio N, Watkins D, Lavoie J, Lerner-Ellis JP, Pastinen T, Trasler JM, Rosenblatt DS. Loewy AD, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2009 Apr;96(4):261-7. doi: 10.1016/j.ymgme.2008.12.011. Epub 2009 Feb 5. Mol Genet Metab. 2009. PMID: 19200761

4

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Among authors: rosenblatt ds. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.

5

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Alfares A, et al. Among authors: rosenblatt ds. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785126

6

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

7

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.

Miousse IR, Watkins D, Rosenblatt DS. Miousse IR, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2011 Apr;102(4):505-7. doi: 10.1016/j.ymgme.2011.01.002. Epub 2011 Jan 14. Mol Genet Metab. 2011. PMID: 21303734

8

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

Morel CF, Scott P, Christensen E, Rosenblatt DS, Rozen R. Morel CF, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2005 Jun;85(2):115-20. doi: 10.1016/j.ymgme.2005.03.001. Epub 2005 Apr 1. Mol Genet Metab. 2005. PMID: 15896655

9

Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Watkins D, Wong LJ, Rosenblatt DS. Pupavac M, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2016 Mar;117(3):363-8. doi: 10.1016/j.ymgme.2016.01.008. Epub 2016 Jan 23. Mol Genet Metab. 2016. PMID: 26827111

10

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

Dempsey-Nunez L, Illson ML, Kent J, Huang Q, Brebner A, Watkins D, Gilfix BM, Wittwer CT, Rosenblatt DS. Dempsey-Nunez L, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2012 Nov;107(3):363-7. doi: 10.1016/j.ymgme.2012.09.012. Epub 2012 Sep 15. Mol Genet Metab. 2012. PMID: 23026888

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