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Tytuł :
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Autorzy :
Kındış E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek-Kiper PÖ; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Koşukcu C; Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, Ankara, Turkey.
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Göçmen R; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine E; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikaşifoğlu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1888-1896. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji :
Case Reports
Raport
Tytuł :
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
Autorzy :
Akalın A; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine E; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Department of Pediatrics, Acıbadem University Faculty of Medicine, Istanbul, Turkey.
Özçelik U; Department of Pediatric Chest Diseases, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun 04. Date of Electronic Publication: 2021 Jun 04.
Typ publikacji :
Case Reports
Raport
Tytuł :
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Autorzy :
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. .
Urel-Demir G; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Arslan UE; Institute of Public Health, Hacettepe University, Ankara, Turkey.
Nur B; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Mihci E; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Haliloglu M; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Department of Pediatric Genetics, Acibadem Mehmet Aydınlar University Faculty of Medicine, Istanbul, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Journal of human genetics [J Hum Genet] 2021 Jun; Vol. 66 (6), pp. 585-596. Date of Electronic Publication: 2020 Dec 07.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
Autorzy :
Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Öncel İ; Department of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 May; Vol. 32, pp. 46-55. Date of Electronic Publication: 2021 Mar 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Bone Diseases, Developmental/*genetics
Bone Diseases, Developmental/*pathology
Neuromuscular Diseases/*genetics
Neuromuscular Diseases/*pathology
TRPV Cation Channels/*genetics
Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Male ; Phenotype ; Turkey ; Young Adult
Czasopismo naukowe
Tytuł :
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.
Autorzy :
Akgün-Doğan Ö; Division of Pediatric Genetics, Department of Pediatrics, 64005Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, 64005Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taşkıran E; Department of Medical Genetics, 64005Hacettepe University Faculty of Medicine, Ankara, Turkey.
Schossig A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, 64005Hacettepe University Faculty of Medicine, Ankara, Turkey.
Zschocke J; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Boduroglu K; Division of Pediatric Genetics, Department of Pediatrics, 64005Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Journal of child neurology [J Child Neurol] 2021 Apr 19, pp. 8830738211004736. Date of Electronic Publication: 2021 Apr 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.
Autorzy :
Kaya Akca U; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Urel Demir G; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Sag E; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Atalay E; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Bilginer Y; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ozen S; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Apr; Vol. 64 (4), pp. 104185. Date of Electronic Publication: 2021 Mar 02.
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Genetic Testing/*standards
Limb Deformities, Congenital/*genetics
Rheumatic Diseases/*genetics
Adolescent ; Child ; Diagnosis, Differential ; Female ; Genetic Testing/methods ; Humans ; Limb Deformities, Congenital/diagnosis ; Limb Deformities, Congenital/diagnostic imaging ; Male ; Radiography/standards ; Rheumatic Diseases/diagnosis ; Rheumatic Diseases/diagnostic imaging
Czasopismo naukowe
Tytuł :
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
Autorzy :
Ürel-Demir G; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Aydın B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Karaosmanoğlu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Akgün-Doğan Ö; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; 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.
Boduroğlu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Molecular syndromology [Mol Syndromol] 2021 Apr; Vol. 12 (2), pp. 106-111. Date of Electronic Publication: 2021 Feb 05.
Typ publikacji :
Case Reports
Raport
Tytuł :
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
Autorzy :
Taylan Sekeroglu H; Department of Ophthalmology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Karaosmanoglu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; 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.
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.
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.
Coskun T; Division of Metabolism, 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.
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Źródło :
Molecular syndromology [Mol Syndromol] 2020 Dec; Vol. 11 (5-6), pp. 302-308. Date of Electronic Publication: 2020 Sep 09.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
Autorzy :
Vuralli D; Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Kosukcu C; Department of Medical Genetics, Hacettepe University Medical School, Ankara, Turkey.
Taskiran E; Department of Medical Genetics, Hacettepe University Medical School, Ankara, Turkey.
Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Boduroglu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Alikasifoglu A; Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Medical School, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
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Źródło :
Molecular syndromology [Mol Syndromol] 2020 Nov; Vol. 11 (4), pp. 207-216. Date of Electronic Publication: 2020 Sep 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Autorzy :
Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Ümraniye Training and Research Hospital, Istanbul, Turkey.
Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Lissewski C; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Göçmen R; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Cagdas D; Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Bilginer Y; Division of Pediatric Rheumatology, 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.
Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Ozen S; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Tezcan İ; Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Dec; Vol. 179 (12), pp. 2474-2480. Date of Electronic Publication: 2019 Oct 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Phenotype*
Adenosine Deaminase/*deficiency
Agammaglobulinemia/*diagnosis
Agammaglobulinemia/*genetics
Intercellular Signaling Peptides and Proteins/*deficiency
Loose Anagen Hair Syndrome/*diagnosis
Loose Anagen Hair Syndrome/*genetics
Noonan Syndrome/*diagnosis
Noonan Syndrome/*genetics
Severe Combined Immunodeficiency/*diagnosis
Severe Combined Immunodeficiency/*genetics
Adenosine Deaminase/genetics ; Alleles ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genotype ; Humans ; Mutation ; Radiography ; Symptom Assessment
SCR Disease Name :
Severe combined immunodeficiency due to adenosine deaminase deficiency
Czasopismo naukowe
Tytuł :
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Autorzy :
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.
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Źródło :
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2020 Apr; Vol. 39 (2), pp. 163-171. Date of Electronic Publication: 2019 Jul 15.
Typ publikacji :
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
Czasopismo naukowe
Tytuł :
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).
Autorzy :
Ürel-Demir G; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Ankara, Turkey.
Akgün-Doğan Ö; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Ankara, Turkey.
Oğuz S; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Güleray-Lafcı N; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Şimşek-Kiper PÖ; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Ankara, Turkey.
Eda Utine G; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Ankara, Turkey.
Alikaşifoğlu M; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Boduroğlu K; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Ankara, Turkey.
Pokaż więcej
Źródło :
Molecular syndromology [Mol Syndromol] 2020 Feb; Vol. 11 (1), pp. 38-42. Date of Electronic Publication: 2020 Jan 14.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinical and molecular evaluation of 16 patients with Rett syndrome.
Autorzy :
Zengin-Akkuş P; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taşkıran EZ; Department of Pediatrics Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kabaçam S; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloğlu G; Division of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
The Turkish journal of pediatrics [Turk J Pediatr] 2018; Vol. 60 (1), pp. 1-9.
Typ publikacji :
Journal Article
MeSH Terms :
Rett Syndrome*/complications
Rett Syndrome*/diagnosis
Rett Syndrome*/genetics
Adolescent ; Child ; Child, Preschool ; Delayed Diagnosis ; Female ; Genotype ; Growth Disorders/etiology ; Humans ; Methyl-CpG-Binding Protein 2/genetics ; Mutation ; Phenotype ; Sequence Analysis, DNA ; Young Adult
Czasopismo naukowe
Tytuł :
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
Autorzy :
Bilgin B; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kabaçam S; Molecular Genetics Laboratory, Department of Pediatrics; Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taşkıran E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Pokaż więcej
Źródło :
The Turkish journal of pediatrics [Turk J Pediatr] 2018; Vol. 60 (5), pp. 506-513.
Typ publikacji :
Journal Article
MeSH Terms :
Beckwith-Wiedemann Syndrome/*genetics
Cyclin-Dependent Kinase Inhibitor p57/*genetics
Beckwith-Wiedemann Syndrome/diagnosis ; Child ; Child, Preschool ; DNA Methylation ; Female ; Genomic Imprinting ; Genotype ; Humans ; Infant ; Male ; Multiplex Polymerase Chain Reaction/methods ; Mutation ; Phenotype ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Tytuł :
Anauxetic dysplasia: A rare clinical entity.
Autorzy :
Akgün-Doğan Ö; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimsek-Kiper PÖ; 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.
Boduroğlu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Pokaż więcej
Źródło :
The Turkish journal of pediatrics [Turk J Pediatr] 2018; Vol. 60 (1), pp. 89-93.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Dwarfism/*genetics
Osteochondrodysplasias/*genetics
Child ; Dwarfism/diagnostic imaging ; Female ; Hair/abnormalities ; Hirschsprung Disease/genetics ; Homozygote ; Humans ; Immunologic Deficiency Syndromes/genetics ; Osteochondrodysplasias/congenital ; Osteochondrodysplasias/diagnostic imaging ; Primary Immunodeficiency Diseases ; Radiography ; Scoliosis/diagnostic imaging
SCR Disease Name :
Anauxetic dysplasia; Cartilage-hair hypoplasia
Czasopismo naukowe
Tytuł :
Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa.
Autorzy :
İnan-Erdoğan I; Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Department of Pediatrics, Ankara, Turkey.
Akgül S; Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Department of Pediatrics, Division of Adolescent Medicine, Ankara, Turkey.
Işgın-Atıcı K; Hacettepe University, Department of Nutrition and Dietetics, Ankara, Turkey.
Tuğrul-Yücel T; Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Department of Pediatrics, Division of Pediatric Genetics, Ankara, Turkey.
Boduroğlu K; Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Department of Pediatrics, Division of Pediatric Genetics, Ankara, Turkey.
Derman O; Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Department of Pediatrics, Division of Adolescent Medicine, Ankara, Turkey.
Kanbur N; Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Department of Pediatrics, Division of Adolescent Medicine, Ankara, Turkey.
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Źródło :
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2019 Dec 18; Vol. 32 (12), pp. 1377-1384.
Typ publikacji :
Journal Article
MeSH Terms :
Bone Density*
Polymorphism, Genetic*
Anorexia Nervosa/*genetics
Biomarkers/*analysis
Receptors, Calcitriol/*genetics
Receptors, Estrogen/*genetics
Adolescent ; Anorexia Nervosa/epidemiology ; Anorexia Nervosa/pathology ; Case-Control Studies ; Child ; Female ; Follow-Up Studies ; Genotype ; Humans ; Male ; Prognosis ; Retrospective Studies ; Turkey/epidemiology
Czasopismo naukowe
Tytuł :
Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Autorzy :
Guleray N; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
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.
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.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2019 Nov; Vol. 62 (11), pp. 103585. Date of Electronic Publication: 2018 Nov 27.
Typ publikacji :
Journal Article
MeSH Terms :
Cataract/*genetics
Craniofacial Abnormalities/*genetics
Eye Diseases, Hereditary/*genetics
Musculoskeletal Abnormalities/*genetics
Osteochondrodysplasias/*genetics
Osteoporosis/*genetics
Pentosyltransferases/*genetics
Retinal Detachment/*genetics
Adolescent ; Adult ; Cataract/physiopathology ; Child ; Child, Preschool ; Craniofacial Abnormalities/physiopathology ; Eye Diseases, Hereditary/physiopathology ; Female ; Homozygote ; Humans ; Male ; Musculoskeletal Abnormalities/pathology ; Mutation, Missense/genetics ; Osteochondrodysplasias/physiopathology ; Osteoporosis/physiopathology ; Pedigree ; Phenotype ; Retinal Detachment/physiopathology ; Siblings ; Whole Exome Sequencing ; Young Adult
SCR Disease Name :
Spondyloocular Syndrome, Autosomal Recessive
Czasopismo naukowe

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