Milen Velinov

Summary

Affiliation: 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

  1. ncbi request reprint [Anti-islet antibodies: methods for their determination and etiopathogenetic importance]
    M Velinov
    Eksp Med Morfol 29:62-5. 1990
  2. ncbi request reprint The fetal mycophenolate mofetil syndrome
    Milen 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
  3. ncbi request reprint Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease
    M Velinov
    Clin Genet 73:288-9. 2008
  4. pmc Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene
    Edmund 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
  5. ncbi request reprint Psychotic manifestations in a patient with mental retardation and a 6.2 megabase deletion at the distal short arm of chromosome 12
    Milen 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
  6. pmc Increased "absence" of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome
    Edmund 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
  7. pmc Shorter telomeres may indicate dementia status in older individuals with Down syndrome
    Edmund 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
  8. pmc Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
    Mark B Consugar
    Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Kidney Int 74:1468-79. 2008
  9. ncbi request reprint De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation
    Milen 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
  10. doi request reprint A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation
    Sujana Reddy
    Richmond University Medical Center, Staten Island, NY, USA
    Eur J Med Genet 52:443-5. 2009

Collaborators

Detail Information

Publications27

  1. ncbi request reprint [Anti-islet antibodies: methods for their determination and etiopathogenetic importance]
    M Velinov
    Eksp Med Morfol 29:62-5. 1990
  2. ncbi request reprint The fetal mycophenolate mofetil syndrome
    Milen 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
  3. ncbi request reprint Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease
    M Velinov
    Clin Genet 73:288-9. 2008
  4. pmc Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene
    Edmund 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...
  5. ncbi request reprint Psychotic manifestations in a patient with mental retardation and a 6.2 megabase deletion at the distal short arm of chromosome 12
    Milen 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...
  6. pmc Increased "absence" of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome
    Edmund 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
    ....
  7. pmc Shorter telomeres may indicate dementia status in older individuals with Down syndrome
    Edmund 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...
  8. pmc Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
    Mark 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...
  9. ncbi request reprint De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation
    Milen 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...
  10. doi request reprint A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation
    Sujana 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...
  11. doi request reprint Mitochondrial T9098C sequence change in the MTATP6 gene and development of severe mitochondrial disease after in utero antiretroviral prophylaxis
    Milen 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...
  12. doi request reprint Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions
    Milen 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...
  13. ncbi request reprint Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia
    Edmund 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...
  14. ncbi request reprint Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation
    Gabriel 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...
  15. ncbi request reprint The gene for achondroplasia maps to the telomeric region of chromosome 4p
    M 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...
  16. pmc Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome
    M 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...
  17. ncbi request reprint Variable clinical expression of mosaic trisomy 16 in the newborn infant
    A 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...
  18. ncbi request reprint Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15
    M 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...
  19. ncbi request reprint [Achondroplasia--new research and future goals]
    I Stoilov
    Mol Med (Sofia) 1:13-7. 1996
  20. ncbi request reprint The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA
    M 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...
  21. ncbi request reprint PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions
    M Velinov
    New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA
    Genet Test 5:153-5. 2001
    ....
  22. ncbi request reprint Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation
    Milen 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...
  23. ncbi request reprint PCR-based strategies for the diagnosis of Prader-Willi/Angelman syndromes
    Milen Velinov
    New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA
    Methods Mol Biol 217:209-16. 2003
  24. ncbi request reprint Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses
    M 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...
  25. ncbi request reprint Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype
    M 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...
  26. pmc Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
    Milen 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)...
  27. doi request reprint 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...