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You search for a phrase ""Utine GE"" according to the criterion: Author

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    Showing 1-13 from 13 results
    Title:
    Clinical and molecular analysis of RASopathies in a group of Turkish patients.
    Authors:
    Şimşek‐Kiper, PÖ
    Alanay, Y
    Gülhan, B
    Lissewski, C
    Türkyılmaz, D
    Alehan, D
    Çetin, M
    Utine, GE
    Zenker, M
    Boduroğlu, K
    Show more
    Subject Terms:
    TURKS
    DISEASE research
    PATHOLOGICAL physiology
    NOONAN syndrome
    GENETIC mutation
    DISEASES
    Source:
    Clinical Genetics; Feb2013, Vol. 83 Issue 2, p181-186, 6p, 1 Black and White Photograph, 2 Charts
    Geographic Terms:
    TURKEY
    Academic Journal
    Details
    Title:
    Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
    Authors:
    Hizal M; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. .
    Satırer O; Department of Pediatrics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey.
    Polat SE; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
    Tural DA; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
    Ozsezen B; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
    Sunman B; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
    Karahan S; Department of Biostatistic, Hacettepe University, Ankara, Turkey.
    Emiralioglu N; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
    Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey.
    Utine GE; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey.
    Boduroglu K; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey.
    Yalcin E; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
    Dogru D; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
    Kiper N; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
    Ozcelik U; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
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    Source:
    European journal of pediatrics [Eur J Pediatr] 2022 Feb; Vol. 181 (2), pp. 735-743. Date of Electronic Publication: 2021 Sep 25.
    Publication Type:
    Journal Article
    MeSH Terms:
    Down Syndrome*/complications
    Down Syndrome*/epidemiology
    Sleep Apnea, Obstructive*/complications
    Sleep Apnea, Obstructive*/diagnosis
    Sleep Apnea, Obstructive*/epidemiology
    Child ; Child, Preschool ; Humans ; Polysomnography ; Prevalence ; Sleep
    Academic Journal
    Full Text  Link opens in a new window Full TextDetails
    Title:
    Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.
    Authors:
    Oğuz S; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
    Arslan UE; Department of Health Research, Public Health Institute, Ankara, Turkey.
    Kiper PÖŞ; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Alikaşifoğlu M; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Boduroğlu K; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Utine GE; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Show more
    Source:
    Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2021 Dec; Vol. 65 (12), pp. 1033-1048. Date of Electronic Publication: 2021 Oct 18.
    Publication Type:
    Journal Article
    MeSH Terms:
    Intellectual Disability*/diagnosis
    Intellectual Disability*/genetics
    Adolescent ; Child ; Chromosome Aberrations ; DNA Copy Number Variations/genetics ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Humans ; Microarray Analysis
    Academic Journal
    Full Text  Link opens in a new window Full TextDetails
    Title:
    Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
    Authors:
    Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Karaosmanoğlu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Koşukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Ürel-Demir G; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Akgün-Doğan Ö; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Şimşek-Kiper PÖ; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Alikaşifoğlu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Boduroğlu K; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Utine GE; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Show more
    Source:
    Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2021 Jun; Vol. 65 (6), pp. 577-588. Date of Electronic Publication: 2021 Mar 19.
    Publication Type:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Intellectual Disability*/genetics
    Carrier Proteins ; Consanguinity ; DNA-Binding Proteins ; Genes, Recessive ; Humans ; Intracellular Signaling Peptides and Proteins ; Kinesins ; Membrane Proteins ; Nuclear Proteins ; Phenotype ; RNA-Binding Proteins ; Transcription Factors ; Tumor Suppressor Proteins ; Ubiquitin-Protein Ligases ; Exome Sequencing
    Academic Journal
    Full Text  Link opens in a new windowDetails
    Title:
    Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
    Authors:
    Taylan Şekeroğlu H; Hacettepe University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey
    Utine GE; Hacettepe University Faculty of Medicine, Department of Pediatrics, Department of Pediatric Genetics, Ankara, Turkey
    Show more
    Source:
    Turkish journal of ophthalmology [Turk J Ophthalmol] 2021 Apr 29; Vol. 51 (2), pp. 107-113.
    Publication Type:
    Journal Article; Review
    MeSH Terms:
    Mutation*
    Cataract/*congenital
    Crystallins/*genetics
    High-Throughput Nucleotide Sequencing/*methods
    Cataract/genetics ; Cataract/metabolism ; Crystallins/metabolism ; Genetic Testing ; Humans ; Pedigree
    Academic Journal
    Full Text  Link opens in a new windowDetails
    Title:
    Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
    Authors:
    Guleray N; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
    Taskiran ZE; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Simsek Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Gucer S; Division of Pediatric Pathology, Department of Pediatrics, Hacettepe Universitesi Faculty of Medicine, Ankara, Turkey.
    Tokatli A; Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Boduroglu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    Show more
    Source:
    Fetal and pediatric pathology [Fetal Pediatr Pathol] 2020 Apr; Vol. 39 (2), pp. 163-171. Date of Electronic Publication: 2019 Jul 15.
    Publication Type:
    Case Reports; Journal Article
    MeSH Terms:
    Cardiomyopathies/*genetics
    Cardiomyopathies/*pathology
    Cataract/*genetics
    Cataract/*pathology
    Mutation/*genetics
    Phosphotransferases (Alcohol Group Acceptor)/*genetics
    Autopsy/methods ; Cardiomyopathies/diagnosis ; Cataract/diagnosis ; Female ; Genetic Testing/methods ; Humans ; Infant ; Male ; Mitochondria/genetics ; Phenotype
    SCR Disease Name:
    Cataract and cardiomyopathy
    Academic Journal
    Full Text  Link opens in a new window Full TextDetails
    Title:
    An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
    Authors:
    Ceylan AC; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Department of Medical Genetics, Ankara Ataturk Training and Research Hospital, Yildirim Beyazit University, Ankara, Turkey.
    Sahin I; Faculty of Medicine, Department of Medical Genetics, Ataturk University, Erzurum, Turkey.; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
    Erdem HB; Faculty of Medicine, Department of Medical Genetics, Ataturk University, Erzurum, Turkey.; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
    Kayhan G; Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey.
    Simsek-Kiper PO; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
    Utine GE; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
    Percin F; Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey.
    Boduroglu K; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
    Alikasifoglu M; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
    Show more
    Source:
    Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2019 Jun; Vol. 63 (6), pp. 548-557. Date of Electronic Publication: 2019 Feb 18.
    Publication Type:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Abnormalities, Multiple*/genetics
    Abnormalities, Multiple*/pathology
    Abnormalities, Multiple*/physiopathology
    Chromosome Deletion*
    Intellectual Disability*/etiology
    Intellectual Disability*/genetics
    Intellectual Disability*/physiopathology
    Megalencephaly*/complications
    Megalencephaly*/genetics
    Megalencephaly*/pathology
    Megalencephaly*/physiopathology
    Chromosome Duplication/*genetics
    Chromosomes, Human, Pair 1/*genetics
    Adolescent ; Child ; Child, Preschool ; Consanguinity ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Male ; Microarray Analysis ; RNA-Binding Proteins/genetics ; Sequence Analysis, DNA
    SCR Disease Name:
    Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
    Academic Journal
    Full Text  Link opens in a new window Full TextDetails
    Title:
    Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.
    Authors:
    Ürel Demir G; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
    Doğan ÖA; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
    Şimşek Kiper PÖ; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
    Utine GE; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
    Boduroğlu K; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
    Gucer S; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
    Alikaşifoğlu M; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
    Show more
    Source:
    Fetal and pediatric pathology [Fetal Pediatr Pathol] 2017 Dec; Vol. 36 (6), pp. 445-451. Date of Electronic Publication: 2017 Dec 08.
    Publication Type:
    Case Reports; Journal Article
    MeSH Terms:
    Disorders of Sex Development/*genetics
    Fibroblast Growth Factor 9/*genetics
    Intracellular Signaling Peptides and Proteins/*genetics
    Membrane Proteins/*genetics
    SOXB1 Transcription Factors/*genetics
    Trisomy 13 Syndrome/*genetics
    Disorders of Sex Development/complications ; Female ; Fibroblasts/metabolism ; Humans ; Infant, Newborn ; Karyotyping ; Translocation, Genetic ; Trisomy 13 Syndrome/complications
    Academic Journal
    Full Text  Link opens in a new window Full TextDetails
    Title:
    A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective.
    Authors:
    Taylan Şekeroğlu H; Hacettepe University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey.
    Utine GE; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Ankara, Turkey.
    Alikaşifoğlu M; Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
    Show more
    Source:
    Turkish journal of ophthalmology [Turk J Ophthalmol] 2016 Dec; Vol. 46 (6), pp. 299-300. Date of Electronic Publication: 2016 Dec 01.
    Publication Type:
    Journal Article
    Academic Journal
    Full Text  Link opens in a new windowDetails
    Title:
    Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.
    Authors:
    Robberecht C; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium. .
    Voet T
    Utine GE
    Schinzel A
    de Leeuw N
    Fryns JP
    Vermeesch J
    Show more
    Source:
    Molecular cytogenetics [Mol Cytogenet] 2012 Apr 10; Vol. 5, pp. 19. Date of Electronic Publication: 2012 Apr 10.
    Publication Type:
    Journal Article
    Academic Journal
    Full Text  Link opens in a new windowDetails
    Title:
    KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
    Authors:
    Putoux A; INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France.
    Thomas S
    Coene KL
    Davis EE
    Alanay Y
    Ogur G
    Uz E
    Buzas D
    Gomes C
    Patrier S
    Bennett CL
    Elkhartoufi N
    Frison MH
    Rigonnot L
    Joyé N
    Pruvost S
    Utine GE
    Boduroglu K
    Nitschke P
    Fertitta L
    Thauvin-Robinet C
    Munnich A
    Cormier-Daire V
    Hennekam R
    Colin E
    Akarsu NA
    Bole-Feysot C
    Cagnard N
    Schmitt A
    Goudin N
    Lyonnet S
    Encha-Razavi F
    Siffroi JP
    Winey M
    Katsanis N
    Gonzales M
    Vekemans M
    Beales PL
    Attié-Bitach T
    Show more
    Source:
    Nature genetics [Nat Genet] 2011 Jun; Vol. 43 (6), pp. 601-6. Date of Electronic Publication: 2011 May 08.
    Publication Type:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Acrocallosal Syndrome/*genetics
    Kinesins/*genetics
    Acrocallosal Syndrome/pathology ; Adolescent ; Cerebral Ventricles/pathology ; Child ; Child, Preschool ; Cilia/genetics ; Consanguinity ; Female ; Hand Deformities, Congenital/embryology ; Hand Deformities, Congenital/genetics ; Hand Deformities, Congenital/pathology ; Heart Defects, Congenital/embryology ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Hedgehog Proteins/metabolism ; Humans ; Hydrocephalus/embryology ; Hydrocephalus/genetics ; Hydrocephalus/pathology ; Infant ; Magnetic Resonance Imaging ; Male ; Mutation ; Pedigree
    SCR Disease Name:
    Hydrolethalus syndrome
    Academic Journal
    Full Text  Link opens in a new windowDetails
      Showing 1-13 from 13 results

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