Morel CF - Search Results

1

Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM, Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS. Werner KG, et al. Among authors: morel cf. Pediatr Neurol. 2009 Jul;41(1):27-33. doi: 10.1016/j.pediatrneurol.2009.02.010. Pediatr Neurol. 2009. PMID: 19520270

2

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.

Gerth C, Morel CF, Feigenbaum A, Levin AV. Gerth C, et al. Among authors: morel cf. J AAPOS. 2008 Dec;12(6):591-6. doi: 10.1016/j.jaapos.2008.06.008. Epub 2008 Oct 10. J AAPOS. 2008. PMID: 18848477

3

The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF. Goh ES, et al. Among authors: morel cf. Am J Med Genet A. 2010 Feb;152A(2):472-8. doi: 10.1002/ajmg.a.33261. Am J Med Genet A. 2010. PMID: 20101700

4

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: morel cf. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311595

5

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

Morel CF, Lerner-Ellis JP, Rosenblatt DS. Morel CF, et al. 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

6

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: morel cf. 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

7

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: morel cf. Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001. Hum Mutat. 2009. PMID: 19370762

8

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

Shlien A, Baskin B, Achatz MI, Stavropoulos DJ, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D. Shlien A, et al. Among authors: morel cf. Am J Hum Genet. 2010 Nov 12;87(5):631-42. doi: 10.1016/j.ajhg.2010.10.007. Am J Hum Genet. 2010. PMID: 21056402 Free PMC article.

9

Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.

Cabrera S, Morel C, Tartaglia MC. Cabrera S, et al. Am J Med Genet A. 2016 May;170A(5):1251-6. doi: 10.1002/ajmg.a.37552. Epub 2016 Feb 3. Am J Med Genet A. 2016. PMID: 26842671

10

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. 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

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