Sibel Aylin Ugur

Summary

Country: Turkey

Publications

  1. doi request reprint Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation
    Sibel Aylin Ugur
    Department of Molecular Biology and Genetics, Boaziçi University, Istanbul 34342, Turkey
    Hum Mol Genet 17:2644-53. 2008
  2. doi request reprint Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1
    Umut Dursun
    Department of Molecular Biology and Genetics, KP 301, Bogazici University, Bebek, 34342, Istanbul, Turkey
    Neurogenetics 10:325-31. 2009
  3. pmc Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis
    Ayse Corut
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Am J Hum Genet 79:650-6. 2006
  4. ncbi request reprint A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract
    Sibel Aylin Ugur
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Eur J Hum Genet 16:261-4. 2008
  5. ncbi request reprint Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32
    Suna Onengüt
    Department of Molecular Biology and Genetics, Bogazici University, Bebek 34342, Istanbul, Turkey
    Neuromuscul Disord 14:4-9. 2004

Collaborators

  • Ugur Ozcelik
  • Aslihan Tolun
  • Umut Dursun
  • Ayse Corut
  • Suna Onengüt
  • Cigdem Koroglu
  • Elif Kocasoy Orhan
  • Haluk Calisir
  • Ayhan Gocmen
  • Abdurrahman Senyigit
  • Sedat Altin
  • Zeki Yildirim
  • Nur Yuceyar
  • Hatice Karasoy

Detail Information

Publications5

  1. doi request reprint Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation
    Sibel Aylin Ugur
    Department of Molecular Biology and Genetics, Boaziçi University, Istanbul 34342, Turkey
    Hum Mol Genet 17:2644-53. 2008
    ..This is the first reported WNT10b mutation on the pathogenesis of limb development and recessive mutation in SHFM...
  2. doi request reprint Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1
    Umut Dursun
    Department of Molecular Biology and Genetics, KP 301, Bogazici University, Bebek, 34342, Istanbul, Turkey
    Neurogenetics 10:325-31. 2009
    ..No mutation but high levels of mRNA were detected. We have mapped a novel autosomal recessive complicated form of HSP (SPG45) to a 4.6-Mbp region at 10q24.3-q25.1 with multipoint logarithm of odds scores >4.5...
  3. pmc Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis
    Ayse Corut
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Am J Hum Genet 79:650-6. 2006
    ..In 2 of the 15 subjects with TM we studied, we identified two rare variants, one synonymous and the other noncoding, that are possibly associated with the condition...
  4. ncbi request reprint A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract
    Sibel Aylin Ugur
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Eur J Hum Genet 16:261-4. 2008
    ..The clinical phenotypes described for five patients broaden the phenotype of the disease and indicate that congenital cataract is not an essential criterion for differential diagnosis...
  5. ncbi request reprint Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32
    Suna Onengüt
    Department of Molecular Biology and Genetics, Bogazici University, Bebek 34342, Istanbul, Turkey
    Neuromuscul Disord 14:4-9. 2004
    ..35 centi Morgans or 5.59 Megabases at chromosome 3p22.2-p21.32. The best candidate responsible for the disease is a novel gene that exhibits homology to the myosin heavy chain...