Milen Velinov, MD, PhD
Milen Velinov, MD, PhD
Director of the Jervis Clinic, NYSIBR, Associate Professor, Icahn School of Medicine at Mount Sinai
Підтверджена електронна адреса в opwdd.ny.gov
Назва
Посилання
Посилання
Рік
The gene for achondroplasia maps to the telomeric region of chromosome 4p
M Velinov, SA Slaugenhaupt, I Stoilov, CI Scott, JF Gusella, P Tsipouras
Nature genetics 6 (3), 314-317, 1994
1341994
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
MB Consugar, WC Wong, PA Lundquist, S Rossetti, VJ Kubly, DL Walker, ...
Kidney international 74 (11), 1468-1479, 2008
1222008
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
M Velinov, N Dolzhanskaya, M Gonzalez, E Powell, I Konidari, W Hulme, ...
PloS one 7 (1), e29729, 2012
842012
Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia
EC Jenkins, MT Velinov, L Ye, H Gu, S Li, EC Jenkins Jr, SS Brooks, ...
Neurobiology of aging 27 (7), 941-945, 2006
822006
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome
M Godfrey, N Vandemark, M Wang, M Velinov, D Wargowski, P Tsipouras, ...
American journal of human genetics 53 (2), 472, 1993
781993
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
MR Bekheirnia, N Bekheirnia, MN Bainbridge, S Gu, ZHC Akdemir, ...
Genetics in Medicine 19 (4), 412-420, 2017
562017
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
MX Henderson, GS Wirak, Y Zhang, F Dai, SD Ginsberg, N Dolzhanskaya, ...
Acta neuropathologica 131 (4), 621-637, 2016
502016
Shorter telomeres may indicate dementia status in older individuals with Down syndrome
EC Jenkins, L Ye, H Gu, SA Ni, M Velinov, D Pang, SJ Krinsky-McHale, ...
Neurobiology of aging 31 (5), 765-771, 2010
402010
Increased “absence” of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome
EC Jenkins, L Ye, H Gu, SA Ni, CJ Duncan, M Velinov, D Pang, ...
Neuroscience letters 440 (3), 340-343, 2008
382008
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
IM de Lange, KL Helbig, S Weckhuysen, RS Møller, M Velinov, ...
Journal of medical genetics 53 (12), 850-858, 2016
362016
SCN3A deficiency associated with increased seizure susceptibility
T Lamar, CG Vanoye, J Calhoun, JC Wong, SBB Dutton, BS Jorge, ...
Neurobiology of disease 102, 38-48, 2017
332017
FOXP1-related intellectual disability syndrome: a recognisable entity
I Meerschaut, D Rochefort, N Revençu, J Pètre, C Corsello, GA Rouleau, ...
Journal of medical genetics 54 (9), 613-623, 2017
292017
Variable clinical expression of mosaic trisomy 16 in the newborn infant
AS Devi, M Velinov, MV Kamath, L Eisenfeld, R Neu, L Ciarleglio, ...
American journal of medical genetics 47 (2), 294-298, 1993
281993
A novel p. Leu (381) Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in …
N Dolzhanskaya, MA Gonzalez, F Sperziani, S Stefl, J Messing, GY Wen, ...
Journal of Alzheimer's Disease 39 (1), 23-27, 2014
252014
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate
M Gavin, GY Wen, J Messing, S Adelman, A Logush, EC Jenkins, ...
JIMD Reports-Volume 11, 87-92, 2013
242013
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation
M Velinov, A Novelli, H Gu, M Fenko, N Dolzhanskaya, L Bernardini, ...
Clinical dysmorphology 18 (1), 9-12, 2009
242009
The fetal mycophenolate mofetil syndrome
M Velinov, N Zellers
Clinical dysmorphology 17 (1), 77-78, 2008
242008
Mild cognitive impairment identified in older individuals with Down syndrome by reduced telomere signal numbers and shorter telomeres measured in microns
EC Jenkins, L Ye, M Velinov, SJ Krinsky‐McHale, WB Zigman, N Schupf, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012
202012
Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene
EC Jenkins, F Tassone, L Ye, H Gu, M Xi, M Velinov, WT Brown, ...
American Journal of Medical Genetics Part A 146 (12), 1543-1546, 2008
192008
Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.
M Velinov, N Zellers, J Styles, K Wisniewski
Clinical genetics 73 (3), 288-289, 2007
192007
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