Research Topics
Species | Milen VelinovSummaryAffiliation: NYS Institute for Basic Research in Developmental Disabilities Location: Staten Island, NY, USA Summary: 1. Director of Genetic Services and Specialty Clinical Laboratories, Head, Laboratory of Molecular Cytogenetics, New York State Institute for Basic Research in Developmental Disabilities 2. Director of Division of Pediatric Genetics, Bronx-Lebanon Hospital Center Assistant Professor in Pediatrics and Genetics, Albert Einstein College of Medicine Grants: 8/07-7/10 IIRG-07-60558 (E. Jenkins, P.I) Telomere shortening in older individuals with Down syndrome and dementia, Alzheimer Publications
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Publications
[Anti-islet antibodies: methods for their determination and etiopathogenetic importance]M Velinov
Eksp Med Morfol 29:62-5. 1990- The fetal mycophenolate mofetil syndromeMilen Velinov
Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
Clin Dysmorphol 17:77-8. 2008 - Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's diseaseM Velinov
Clin Genet 73:288-9. 2008 
Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 geneEdmund C Jenkins
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
Am J Med Genet A 146:1543-6. 2008..Thus, telomere shortening may serve as a biomarker for cellular dysregulation that may precede the development of the symptoms of FXTAS...- Psychotic manifestations in a patient with mental retardation and a 6.2 megabase deletion at the distal short arm of chromosome 12Milen Velinov
The Comprehensive Genetic Services, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
CNS Spectr 13:515-9. 2008..To-date such a chromosomal abnormality has not been described in association with schizophrenia/psychosis. This case suggests that psychosis-associated gene(s) may be located in the terminal region of the short arm of chromosome 12... - Increased "absence" of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndromeEdmund C Jenkins
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road Staten Island, NY 10314, United States
Neurosci Lett 440:340-3. 2008.... - Shorter telomeres may indicate dementia status in older individuals with Down syndromeEdmund C Jenkins
New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA
Neurobiol Aging 31:765-71. 2010..Our findings suggest that it may be feasible to use telomere shortening as a biomarker for accurately inferring dementia status... - Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndromeMark B Consugar
Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
Kidney Int 74:1468-79. 2008..Our assay improves detection levels and the reliability of molecular testing of patients with ADPKD... - De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardationMilen Velinov
Department of Human Genetics, NYS Institute for Basic Research, in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA
Clin Dysmorphol 18:9-12. 2009..Our patient's features are similar to previously reported MECP2 gene duplication cases, thus suggesting minor or no contribution of duplicated genes distal of MECP2 to the reported phenotype... 
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardationSujana Reddy
Richmond University Medical Center, Staten Island, NY, USA
Eur J Med Genet 52:443-5. 2009..This is a group of receptor protein-tyrosine kinase type genes with presumed, but not completely characterized function in nervous system development...- Mitochondrial T9098C sequence change in the MTATP6 gene and development of severe mitochondrial disease after in utero antiretroviral prophylaxisMilen Velinov
New York State Institute for Basic Research in Developmental Disabilities Human Genetics, Staten Island, New York 10314, USA
Pharmacotherapy 29:1491. 2009..Mitochondrial sequencing may be warranted in cases of persistent lactic acidosis after antiretroviral prophylaxis to further study this association... - Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletionsMilen Velinov
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Eur J Med Genet 53:213-6. 2010..This report expands the phenotypic spectrum associated with class II 1q21.1 deletions, and demonstrates striking phenotypic variability even within the same family... - Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementiaEdmund C Jenkins
New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA
Neurobiol Aging 27:941-5. 2006..From this initial study, we conclude that telomere shortening is associated with dementia in this high-risk population and suggest that additional research may show that telomere shortening may be a biological marker of dementia status... - Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocationGabriel S Kupchik
Division of Medical Genetics, Department of Pediatrics, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY 11219, USA
Eur J Med Genet 48:57-65. 2005..We describe this child at 2 months of age with a follow up at 4 1/2 years, exhibiting a mixed clinical picture with features of both 18p- and partial trisomy 16p13.3... - The gene for achondroplasia maps to the telomeric region of chromosome 4pM Velinov
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030
Nat Genet 6:314-7. 1994..3), by family linkage studies using 14 pedigrees. A positive lod score of z = 3.35 with no recombinants was obtained with an intragenic marker for IDUA. This localization will facilitate the positional cloning of the disease gene... - Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndromeM Godfrey
Department of Pediatrics, University of Nebraska Medical Center, Omaha 68198
Am J Hum Genet 53:472-80. 1993..This deletion corresponds to an exon encoding an epidermal growth factor-like motif. Examination of genomic DNA showed a G-->C transversion at the +1 consensus donor splice site... - Variable clinical expression of mosaic trisomy 16 in the newborn infantA S Devi
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030 6140
Am J Med Genet 47:294-8. 1993..This diagnosis may be associated with a highly variable phenotype that may occasionally be compatible with extrauterine life... - Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15M Velinov
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030
Connect Tissue Res 29:13-21. 1993..These data will be useful in the construction of a fine map of the region surrounding the LGMD locus, a prerequisite for the cloning of the LGMD gene... - [Achondroplasia--new research and future goals]I Stoilov
Mol Med (Sofia) 1:13-7. 1996 - The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNAM Velinov
NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, New York, 10314, USA
Mol Genet Metab 69:81-3. 2000..Unlike the recently reported methylation-specific PCR protocol, our method avoids the use of multiplex amplification, thus overcoming the need to adjust relative primer amounts and the risk of obtaining false-negative results... - PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensionsM Velinov
New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA
Genet Test 5:153-5. 2001.... - Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocationMilen Velinov
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
Am J Med Genet 107:330-3. 2002..In addition, monosomy for the telomeric region of chromosome 21 may have implications in the phenotype... - PCR-based strategies for the diagnosis of Prader-Willi/Angelman syndromesMilen Velinov
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA
Methods Mol Biol 217:209-16. 2003 - Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analysesM Velinov
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Ann Genet 47:199-205. 2004..FISH probes for all sub-telomere chromosomal regions are commercially available and the large majority of analphoid marker chromosomes involve telomere regions... - Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotypeM Velinov
Department of Cytogenetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, New York, 10314 NY, USA
Eur J Med Genet 48:51-5. 2005..Genet. 40 (1991) 77-790. Our report supports the presence of a distinct phenotype associated with a deleted chromosomal region within 4q21. Hemizygosity for the PKD2 gene is likely in such deletions and may lead to renal cyst formation... - Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other familiesMilen Velinov
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America
PLoS ONE 7:e29729. 2012..Kufs disease, an adult-onset form of NCL may be recessively or dominantly inherited. Our study aimed to identify genetic mutations associated with autosomal dominant Kufs disease (ADKD)... - Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?Milen Velinov
New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA
Clin Dysmorphol 21:8-10. 2012..We propose that these two sisters suffer from a new autosomal recessive syndrome. Carrier status for this condition may predispose to later onset stroke...