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Wyświetlanie 1-13 z 13
Tytuł :
Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.
Autorzy :
Duz MB; Department of Medical Genetics, Haseki Training and Research Hospital, Health Sciences University, Istanbul, Turkey. bugrahan.duz@istanbul.edu.tr.
Ozyavuz Cubuk P; Department of Medical Genetics, Haseki Training and Research Hospital, Health Sciences University, Istanbul, Turkey.
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Źródło :
Journal of human genetics [J Hum Genet] 2020 Oct 22. Date of Electronic Publication: 2020 Oct 22.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
Autorzy :
Duz MB; Department of Medical Genetics, Haseki Training and Research Hospital, Health Sciences University, Istanbul.
Topak A; Department of Medical Genetics, Health Sciences University Bursa Higher Specialization Training and Research Hospital, Bursa, Turkey.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Oct; Vol. 29 (4), pp. 167-172.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Expression profile of stem cell markers and ABC transporters in 5-fluorouracil resistant Hep-2 cells.
Autorzy :
Duz MB; Department of Medical Genetics, Haseki Training and Research Hospital, Health Science University, Istanbul, Turkey.
Karatas OF; Department of Molecular Biology and Genetics, Erzurum Technical University, Omer Nasuhi Bilmen Mah. Havaalani Yolu Cad. No: 53 Yakutiye, Erzurum, Turkey. .; High Technology Application and Research Center, Erzurum Technical University, Erzurum, Turkey. .
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Źródło :
Molecular biology reports [Mol Biol Rep] 2020 Jul; Vol. 47 (7), pp. 5431-5438. Date of Electronic Publication: 2020 Jul 05.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Three novel mutations in 20 patients with hereditary spastic paraparesis.
Autorzy :
Duz MB; Department of Medical Genetics, Cerrahpaşa Medical School, Istanbul University-Cerrahpaşa, 34098, Fatih, Istanbul, Turkey.
Dasdemir S; Department of Medical Genetics, Cerrahpaşa Medical School, Istanbul University-Cerrahpaşa, 34098, Fatih, Istanbul, Turkey.
Kalayci Yigin A; Department of Medical Genetics, Cerrahpaşa Medical School, Istanbul University-Cerrahpaşa, 34098, Fatih, Istanbul, Turkey.
Akalin MA; Department of Neurology, Cerrahpaşa Medical School, Istanbul University-Cerrahpaşa, 34098, Fatih, Istanbul, Turkey.
Seven M; Department of Medical Genetics, Cerrahpaşa Medical School, Istanbul University-Cerrahpaşa, 34098, Fatih, Istanbul, Turkey. .
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2018 Sep; Vol. 39 (9), pp. 1551-1557. Date of Electronic Publication: 2018 Jun 16.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Mutation*
GTP-Binding Proteins/*genetics
Membrane Proteins/*genetics
Paraparesis, Spastic/*genetics
Spastin/*genetics
Adolescent ; Adult ; Aged ; Child ; Cohort Studies ; Family ; Female ; Genes, Dominant ; Genetic Association Studies ; Humans ; Male ; Membrane Transport Proteins/genetics ; Middle Aged ; Phenotype ; Proteins/genetics ; Turkey ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Autorzy :
White JJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.
Mazzeu JF; University of Brasilia, Brasilia 70910, Brazil; Robinow Syndrome Foundation, Anoka, MN 55303, USA.
Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.
Bahrambeigi V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Graduate Program in Diagnostic Genetics, School of Health Professions, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Hoischen A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
van Bon BWM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Ramond F; Service de Génétique, CHU-Hôpital Nord, 42000 Saint-Etienne, France.
Touraine R; Service de Génétique, CHU-Hôpital Nord, 42000 Saint-Etienne, France.
Thevenon J; Inserm UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, 21000 Dijon, France; FHU-TRANSLAD, Université de Bourgogne, 21000 CHU Dijon, France; Centre de génétique, Hôpital Couple-Enfant, CHU de Grenoble-Alpes, 38700 La Tronche, France.
Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Beaver E; Mercy Clinic-Kids Genetics, Mercy Children's Hospital St. Louis, St. Louis, MO 63141, USA.
Heeley J; Mercy Clinic-Kids Genetics, Mercy Children's Hospital St. Louis, St. Louis, MO 63141, USA.
Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
Durmaz CD; Department of Medical Genetics, Ankara University School of Medicine, 06100 Ankara, Turkey.
Karabulut HG; Department of Medical Genetics, Ankara University School of Medicine, 06100 Ankara, Turkey.
Marzioglu-Ozdemir E; Department of Medical Genetics, Erzurum Regional and Training Hospital, 25070 Erzurum, Turkey.
Cayir A; Erzurum Training and Research Hospital, Department of Pediatric Endocrinology, 25070 Erzurum, Turkey.
Duz MB; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, 34452 Istanbul, Turkey.
Seven M; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, 34452 Istanbul, Turkey.
Price S; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK.
Ferreira BM; University of Brasilia, Brasilia 70910, Brazil.
Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Sao Paulo - SP 05508-090, Brazil.
Ellard S; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK.
Parrish A; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Flores-Daboub J; Department of Pediatric Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA. Electronic address: .
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Corporate Authors :
Baylor-Hopkins Center for Mendelian Genomics
Źródło :
American journal of human genetics [Am J Hum Genet] 2018 Jan 04; Vol. 102 (1), pp. 27-43. Date of Electronic Publication: 2017 Dec 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Heterogeneity*
Craniofacial Abnormalities/*genetics
Dwarfism/*genetics
Limb Deformities, Congenital/*genetics
Urogenital Abnormalities/*genetics
Wnt Signaling Pathway/*genetics
Adolescent ; Adult ; Base Sequence ; Child ; Child, Preschool ; Chromosome Segregation/genetics ; Craniofacial Abnormalities/diagnosis ; Diagnosis, Differential ; Dwarfism/diagnosis ; Female ; Genes, Dominant ; Genetic Association Studies ; Humans ; Limb Deformities, Congenital/diagnosis ; Male ; Middle Aged ; Mutation, Missense/genetics ; Phenotype ; Urogenital Abnormalities/diagnosis
SCR Disease Name :
Robinow Syndrome
Czasopismo naukowe
Tytuł :
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Autorzy :
Abbott M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Pferdehirt R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Duz MB; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Seven M; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Oct; Vol. 173 (10), pp. 2789-2794. Date of Electronic Publication: 2017 Aug 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Fractures, Bone/*pathology
Muscle Proteins/*genetics
Myopathies, Structural, Congenital/*pathology
Female ; Fractures, Bone/complications ; Fractures, Bone/genetics ; Homozygote ; Humans ; Infant, Newborn ; Male ; Microfilament Proteins ; Myopathies, Structural, Congenital/complications ; Myopathies, Structural, Congenital/genetics ; Pedigree
Czasopismo naukowe
Tytuł :
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.
Autorzy :
Duz MB; aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey bCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Kirat E
Coucke PJ
Koparir E
Gezdirici A
Paepe A
Callewaert B
Seven M
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2017 Jul; Vol. 26 (3), pp. 142-147.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Cutis Laxa/*genetics
Elastin/*genetics
Child, Preschool ; Cutis Laxa/metabolism ; Exons ; Female ; Frameshift Mutation ; Humans ; Pedigree
SCR Disease Name :
Cutis Laxa, Autosomal Dominant
Czasopismo naukowe
Tytuł :
Identification of miR-139-5p as a saliva biomarker for tongue squamous cell carcinoma: a pilot study.
Autorzy :
Duz MB; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
Karatas OF; Department of Molecular Biology and Genetics, Erzurum Technical University, Erzurum, Turkey.
Guzel E; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.; Departments of Medical Genetics and Molecular Biology and Genetics, Biruni University, 10. Yil Caddesi Protokol Yolu No: 45, 34010, Topkapi, Istanbul, Turkey.
Turgut NF; Department of Otorhinolaryngology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Yilmaz M; Department of Otorhinolaryngology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Creighton CJ; Department of Medicine and Dan L. Duncan Cancer Center Division of Biostatistics, Baylor College of Medicine, Houston, TX, USA.
Ozen M; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey. .; Departments of Medical Genetics and Molecular Biology and Genetics, Biruni University, 10. Yil Caddesi Protokol Yolu No: 45, 34010, Topkapi, Istanbul, Turkey. .; Department of Pathology & Immunology Baylor College of Medicine, Houston, TX, 77030, USA. .
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Źródło :
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2016 Apr; Vol. 39 (2), pp. 187-93. Date of Electronic Publication: 2015 Dec 09.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Biomarkers, Tumor/*genetics
Carcinoma, Squamous Cell/*genetics
MicroRNAs/*metabolism
Saliva/*metabolism
Tongue Neoplasms/*genetics
Adult ; Aged ; Aged, 80 and over ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; MicroRNAs/genetics ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Pilot Projects ; ROC Curve
Czasopismo naukowe
Tytuł :
The role of ATP-binding cassette transporter genes in the progression of prostate cancer.
Autorzy :
Karatas OF; Department of Molecular Biology and Genetics, Erzurum Technical University, Erzurum, Turkey.
Guzel E; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.
Duz MB; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Ittmann M; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas.; Michael E. DeBakey VAMC, Houston, Texas.
Ozen M; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas.
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Źródło :
The Prostate [Prostate] 2016 Apr; Vol. 76 (5), pp. 434-44. Date of Electronic Publication: 2015 Dec 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
ATP-Binding Cassette Transporters/*genetics
Neoplasm Recurrence, Local/*genetics
Prostatic Neoplasms/*genetics
ATP-Binding Cassette Transporters/metabolism ; Disease Progression ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local/metabolism ; Neoplasm Recurrence, Local/pathology ; Prognosis ; Prostatic Neoplasms/metabolism ; Prostatic Neoplasms/pathology
Czasopismo naukowe
Tytuł :
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
Autorzy :
Lee B; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, South Korea.
Duz MB; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
Sagong B; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, South Korea.
Koparir A; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
Lee KY; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, Kyungpook National University, Daegu, South Korea.
Choi JY; Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, South Korea.
Seven M; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
Yuksel A; Department of Medical Genetics, Biruni University Medical School, Istanbul, Turkey.
Kim UK; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, South Korea. Electronic address: .
Ozen M; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey; Department of Medical Genetics, Biruni University Medical School, Istanbul, Turkey; Department of Pathology & Immunology, Baylor College of Medicine, Michael E. DeBakey VAMC, Houston, TX, United States. Electronic address: .
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Źródło :
Gene [Gene] 2016 Feb 01; Vol. 576 (2 Pt 2), pp. 776-81. Date of Electronic Publication: 2015 Nov 10.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
CHARGE Syndrome/*genetics
DNA Helicases/*genetics
DNA-Binding Proteins/*genetics
Mutation/*genetics
RNA Splice Sites/*genetics
Adult ; Amino Acid Sequence ; Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Exons/genetics ; Female ; HeLa Cells ; Humans ; Infant ; Infant, Newborn ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Transfection
Czasopismo naukowe
Tytuł :
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Autorzy :
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Erdin S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat, 49 B 3000 Leuven, Belgium.
Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Isikay S; Department of Child Neurology, Gaziantep Children's Hospital, Gaziantep 27560, Turkey.
Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
Yuregir OO; Department of Medical Genetics, Numune Training and Research Hospital, Adana 01240, Turkey.
Tug Bozdogan S; Department of Medical Genetics, Mersin University, Mersin 33343, Turkey.
Aslan H; Department of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir 26480, Turkey.
Aydin H; Department of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
Tos T; Department of Medical Genetics, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
Aksoy A; Department of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Jain P; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
Durmaz B; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Cogulu O; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Ozkinay F; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Topcu V; Department of Medical Genetics, Zekai Tahir Burak Women's Health Training and Research Hospital, Ankara 06230, Turkey.
Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
Cebi AH; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Ikbal M; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Yilmaz Gulec E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Gezdirici A; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Koparir E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Ekici F; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Coskun S; Department of Medical Genetics, Dicle University Faculty of Medicine, Diyarbakir 21280, Turkey.
Cicek S; Medical Genetics Section, Konya Numune Training and Research Hospital, Konya 42250, Turkey.
Karaer K; Intergen Genetic Center, Ankara 06700, Turkey.
Koparir A; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Duz MB; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Kirat E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Fenercioglu E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Ulucan H; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Seven M; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
Elcioglu N; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul 34854, Turkey.
Yildirim MS; Department of Genetics, Necmettin Erbakan University, Meram Medical Faculty, Konya 42060, Turkey.
Aktas D; Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Alikaşifoğlu M; Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Ture M; Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Yakut T; Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Yuksel A; Biruni University, Istanbul 34010, Turkey.
Ozen M; Biruni University, Istanbul 34010, Turkey.
Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Adams DR; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Chung WK; Department of Pediatrics and Medicine, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY 10032, USA.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
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Źródło :
Neuron [Neuron] 2015 Nov 04; Vol. 88 (3), pp. 499-513.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Brain/*pathology
Gene Regulatory Networks/*genetics
Genetic Variation/*genetics
Mendelian Randomization Analysis/*methods
Nervous System Diseases/*diagnosis
Nervous System Diseases/*genetics
Brain/abnormalities ; Cohort Studies ; Databases, Genetic ; Female ; Genetic Association Studies/methods ; Humans ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Differential expression of stem cell markers and ABCG2 in recurrent prostate cancer.
Autorzy :
Guzel E; Department of Medical Genetics, Istanbul University, Cerrahpasa Medical School, Istanbul, Turkey; Biruni University, Istanbul, Turkey.
Karatas OF
Duz MB
Solak M
Ittmann M
Ozen M
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Źródło :
The Prostate [Prostate] 2014 Nov; Vol. 74 (15), pp. 1498-505. Date of Electronic Publication: 2014 Aug 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
ATP-Binding Cassette Transporters/*metabolism
Biomarkers, Tumor/*metabolism
Neoplasm Proteins/*metabolism
Neoplasm Recurrence, Local/*metabolism
Neoplastic Stem Cells/*metabolism
Prostatic Neoplasms/*metabolism
ATP Binding Cassette Transporter, Subfamily G, Member 2 ; Aged ; Gene Expression Regulation, Neoplastic ; Humans ; Kruppel-Like Transcription Factors/metabolism ; Male ; Middle Aged ; Neoplasm Recurrence, Local/pathology ; Octamer Transcription Factor-3/metabolism ; Prostatic Neoplasms/pathology ; Real-Time Polymerase Chain Reaction ; SOXB1 Transcription Factors/metabolism
Czasopismo naukowe
Tytuł :
The role of miRNAs in cancer: from pathogenesis to therapeutic implications.
Autorzy :
Seven M; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
Karatas OF
Duz MB
Ozen M
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Źródło :
Future oncology (London, England) [Future Oncol] 2014 May; Vol. 10 (6), pp. 1027-48.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
MicroRNAs/*genetics
Neoplasms/*genetics
Animals ; Biomarkers, Tumor ; Early Detection of Cancer ; Epigenesis, Genetic ; Gene Expression Regulation, Neoplastic ; Genes, Tumor Suppressor ; Humans ; Neoplasm Metastasis ; Neoplasms/diagnosis ; Neoplasms/pathology ; Neoplasms/therapy ; Neoplastic Stem Cells/metabolism ; Oncogenes ; Polymorphism, Single Nucleotide ; Prognosis
Czasopismo naukowe
    Wyświetlanie 1-13 z 13

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