Velinov M - Search Results

1

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S. Velinov M, et al. PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. PLoS One. 2012. PMID: 22235333 Free PMC article.

2

The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA.

Velinov M, Gu H, Genovese M, Duncan C, Brown WT, Jenkins E. Velinov M, et al. Mol Genet Metab. 2000 Jan;69(1):81-3. doi: 10.1006/mgme.1999.2941. Mol Genet Metab. 2000. PMID: 10655162

3

Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene.

Jenkins EC, Tassone F, Ye L, Gu H, Xi M, Velinov M, Brown WT, Hagerman RJ, Hagerman PJ. Jenkins EC, et al. Among authors: velinov m. Am J Med Genet A. 2008 Jun 15;146A(12):1543-6. doi: 10.1002/ajmg.a.32342. Am J Med Genet A. 2008. PMID: 18478592 Free PMC article.

4

Psychotic manifestations in a patient with mental retardation and a 6.2 megabase deletion at the distal short arm of chromosome 12.

Velinov M, Beldia G, Gu H, Tsiouris JA, Jenkins EC, Brown WT. Velinov M, et al. CNS Spectr. 2008 Jun;13(6):515-9. doi: 10.1017/s1092852900016758. CNS Spectr. 2008. PMID: 18567976

5

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT. Velinov M, et al. Clin Dysmorphol. 2009 Jan;18(1):9-12. doi: 10.1097/MCD.0b013e3283157cad. Clin Dysmorphol. 2009. PMID: 19090026

6

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.

Reddy S, Dolzhanskaya N, Krogh J, Velinov M. Reddy S, et al. Among authors: velinov m. Eur J Med Genet. 2009 Nov-Dec;52(6):443-5. doi: 10.1016/j.ejmg.2009.09.003. Epub 2009 Sep 20. Eur J Med Genet. 2009. PMID: 19772933

7

Mitochondrial T9098C sequence change in the MTATP6 gene and development of severe mitochondrial disease after in utero antiretroviral prophylaxis.

Velinov M, Dolzhanskaya N, Mendez H. Velinov M, et al. Pharmacotherapy. 2009 Dec;29(12):1491. doi: 10.1592/phco.29.12.1491. Pharmacotherapy. 2009. PMID: 19947808

8

Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions.

Velinov M, Dolzhanskaya N. Velinov M, et al. Eur J Med Genet. 2010 Jul-Aug;53(4):213-6. doi: 10.1016/j.ejmg.2010.05.005. Epub 2010 May 31. Eur J Med Genet. 2010. PMID: 20573555

9

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?

Velinov M, Dolzhanskaya N, Ramaswamy P, Barinstein L, Stuart RM, Kahn P, Feldstein N, Madrid RE. Velinov M, et al. Clin Dysmorphol. 2012 Jan;21(1):8-10. doi: 10.1097/MCD.0b013e32834c59a8. Clin Dysmorphol. 2012. PMID: 21968521

10

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

Gavin M, Wen GY, Messing J, Adelman S, Logush A, Jenkins EC, Brown WT, Velinov M. Gavin M, et al. Among authors: velinov m. JIMD Rep. 2013;11:87-92. doi: 10.1007/8904_2013_226. Epub 2013 Apr 16. JIMD Rep. 2013. PMID: 23588842 Free PMC article.

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