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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 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 :
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 :
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
Autorzy :
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran E; 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.
Arslan UE; Department of Health Research, Institute of Public Health, Hacettepe University, Ankara, Turkey.
Cormier-Daire V; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
Gonc N; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ozon A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kandemir N; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Acibadem University Faculty of Medicine, Istanbul, Turkey.
Alikasifoglu M; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical 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 :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jul; Vol. 179 (7), pp. 1157-1172. Date of Electronic Publication: 2019 Apr 13.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Association Studies*
Mutation*
Bone Morphogenetic Protein 2/*genetics
Cullin Proteins/*genetics
Cytoskeletal Proteins/*genetics
Dwarfism/*genetics
Muscle Hypotonia/*genetics
Spine/*abnormalities
Adolescent ; Base Sequence ; Bone Morphogenetic Protein 2/deficiency ; Child ; Child, Preschool ; Chromosomes, Human, Pair 20 ; Cohort Studies ; Cullin Proteins/metabolism ; Cytoskeletal Proteins/metabolism ; Dwarfism/diagnosis ; Dwarfism/metabolism ; Dwarfism/pathology ; Female ; Fetus ; Gene Expression ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/metabolism ; Muscle Hypotonia/pathology ; Phenotype ; Spine/metabolism ; Spine/pathology ; Whole Exome Sequencing
SCR Disease Name :
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Czasopismo naukowe
Tytuł :
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
Autorzy :
Simsek-Kiper PO; Division 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.
Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
Urel-Demir G; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Yilmaz G; Department of Orthopedic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Nishimura G; Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan.
Boduroglu 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.
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.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Sep; Vol. 176 (9), pp. 2009-2016. Date of Electronic Publication: 2018 Jul 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Phenotype*
DNA-Binding Proteins/*genetics
Osteochondrodysplasias/*diagnosis
Osteochondrodysplasias/*genetics
Adolescent ; Adult ; Brachydactyly ; Child ; Craniosynostoses ; DNA Mutational Analysis ; Facies ; Female ; Genetic Testing ; Humans ; Male ; Pedigree ; Radiography ; Young Adult
Czasopismo naukowe
Tytuł :
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
Autorzy :
Taskiran EZ; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.
Karaosmanoglu B; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Department of Stem Cell Sciences, Hacettepe University, Institute of Health Sciences, Ankara, Turkey.
Koşukcu C; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.
Doğan ÖA; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Taylan-Şekeroğlu H; Faculty of Medicine, Department of Ophthalmology, Hacettepe University, Ankara, Turkey.
Şimşek-Kiper PÖ; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Utine EG; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Boduroğlu K; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Alikaşifoğlu M; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Dec; Vol. 173 (12), pp. 3143-3152. Date of Electronic Publication: 2017 Oct 08.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
INDEL Mutation*
Abnormalities, Multiple/*genetics
Cadherins/*genetics
Craniofacial Abnormalities/*genetics
Intellectual Disability/*genetics
Abnormalities, Multiple/diagnostic imaging ; Cell Differentiation ; Cell Proliferation ; Child ; Child, Preschool ; Craniofacial Abnormalities/diagnostic imaging ; Female ; Homozygote ; Humans ; Intellectual Disability/diagnostic imaging ; Loss of Function Mutation ; Osteogenesis/genetics ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Syndrome ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.
Autorzy :
Kurt-Sukur ED; Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.
Simsek-Kiper PO; Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.
Utine GE; Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.
Boduroglu K; Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.
Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.; Pediatric Genetics, Department of Pediatrics, Acibadem University School of Medicine, İstanbul, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Sep; Vol. 167A (9), pp. 2065-74. Date of Electronic Publication: 2015 Apr 30.
Typ publikacji :
Journal Article
MeSH Terms :
Bone Diseases, Developmental/*genetics
Musculoskeletal Abnormalities/*genetics
Achondroplasia/genetics ; Adolescent ; Autopsy/methods ; Child ; Child, Preschool ; Consanguinity ; Female ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Osteochondrodysplasias/genetics ; Osteogenesis Imperfecta/genetics ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Registries ; Retrospective Studies ; Turkey
Czasopismo naukowe
Tytuł :
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.
Autorzy :
Kilic E; Faculty of Medicine, Division of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Yigit G
Utine GE
Wollnik B
Mihci E
Nur BG
Boduroglu K
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Apr; Vol. 167A (4), pp. 919-21. Date of Electronic Publication: 2015 Mar 03.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Dwarfism/*diagnosis
Fetal Growth Retardation/*diagnosis
Microcephaly/*diagnosis
Osteochondrodysplasias/*diagnosis
RNA, Small Nuclear/*genetics
DNA Mutational Analysis ; Dwarfism/genetics ; Fetal Growth Retardation/genetics ; Genetic Association Studies ; Humans ; Infant ; Male ; Microcephaly/genetics ; Osteochondrodysplasias/genetics ; Point Mutation
SCR Disease Name :
Microcephalic osteodysplastic primordial dwarfism, type 1
Czasopismo naukowe
Tytuł :
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.
Autorzy :
Simsek-Kiper PO; Unit of Pediatric Genetics Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey; Division of Molecular Pediatrics Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Dikoglu E
Campos-Xavier B
Utine GE
Bonafe L
Unger S
Boduroglu K
Superti-Furga A
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Oct; Vol. 164A (10), pp. 2667-71. Date of Electronic Publication: 2014 Aug 05.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Angiotensin II Type 1 Receptor Blockers/*therapeutic use
Camurati-Engelmann Syndrome/*diagnosis
Camurati-Engelmann Syndrome/*drug therapy
Losartan/*therapeutic use
Adolescent ; Camurati-Engelmann Syndrome/genetics ; Humans ; Male ; Mutation/genetics
Czasopismo naukowe
Tytuł :
Barraquer-Simons syndrome: a rare clinical entity.
Autorzy :
Simsek-Kiper PO; Pediatric Genetic Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Roach E
Utine GE
Boduroglu K
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Jul; Vol. 164A (7), pp. 1756-60. Date of Electronic Publication: 2014 May 01.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Lipodystrophy/*diagnosis
Abnormalities, Multiple/diagnosis ; Erythrocyte Indices ; Female ; Humans ; Kidney Function Tests ; Lipids/blood ; Lipodystrophy/blood ; Phenotype ; Thyroid Function Tests ; Young Adult
SCR Disease Name :
Lipodystrophy, Partial, Acquired
Czasopismo naukowe
Tytuł :
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Autorzy :
Alanay Y; Department of Pediatrics, Pediatric Genetics, Hacettepe University Medical Faculty, Ankara, Turkey; Department of Pediatrics, Pediatric Genetics, Acıbadem University Medical Faculty, Istanbul, Turkey.
Ergüner B
Utine E
Haçariz O
Kiper PO
Taşkıran EZ
Perçin F
Uz E
Sağiroğlu MŞ
Yuksel B
Boduroglu K
Akarsu NA
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Feb; Vol. 164A (2), pp. 291-304. Date of Electronic Publication: 2013 Nov 05.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genes, Recessive*
Abnormalities, Multiple/*genetics
Intellectual Disability/*genetics
Membrane Proteins/*deficiency
Membrane Proteins/*genetics
Abnormalities, Multiple/diagnosis ; Bone and Bones/diagnostic imaging ; Bone and Bones/pathology ; Brain/pathology ; Calcium Channels ; Child, Preschool ; Chromosome Mapping ; Consanguinity ; DNA Mutational Analysis ; Exome ; Facies ; Fatal Outcome ; Female ; Gene Expression ; Gene Order ; Homozygote ; Humans ; Infant ; Intellectual Disability/diagnosis ; Magnetic Resonance Imaging ; Male ; Pedigree ; Phenotype ; Pregnancy ; Pregnancy Outcome ; Radiography ; Turkey
SCR Disease Name :
Cerebrofaciothoracic Dysplasia
Czasopismo naukowe
Tytuł :
Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome.
Autorzy :
Utine GE; Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Akpınar B
Arslan U
Kiper PÖ
Volkan-Salancı B
Alanay Y
Aktaş D
Haliloğlu G
Oğuz KK
Boduroğlu K
Alikaşifoğlu M
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Jan; Vol. 164A (1), pp. 99-105. Date of Electronic Publication: 2013 Nov 20.
Typ publikacji :
Journal Article
MeSH Terms :
Magnetic Resonance Spectroscopy*/methods
Brain/*metabolism
Brain/*pathology
Fragile X Syndrome/*metabolism
Fragile X Syndrome/*pathology
Aspartic Acid/analogs & derivatives ; Aspartic Acid/metabolism ; Case-Control Studies ; Child ; Child, Preschool ; Choline/metabolism ; Creatine/metabolism ; Fragile X Syndrome/diagnosis ; Humans ; Magnetic Resonance Imaging ; Male ; Metabolome ; Metabolomics/methods
Czasopismo naukowe
Tytuł :
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
Autorzy :
Dikoglu E; Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Simsek-Kiper PO
Utine GE
Campos-Xavier B
Boduroglu K
Bonafé L
Superti-Furga A
Unger S
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Dec; Vol. 161A (12), pp. 3161-5. Date of Electronic Publication: 2013 Aug 16.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Abnormalities, Multiple/*genetics
Dysostoses/*congenital
Pelvis/*abnormalities
Shoulder/*abnormalities
T-Box Domain Proteins/*genetics
Abnormalities, Multiple/physiopathology ; Adult ; Codon, Nonsense ; Dwarfism ; Dysostoses/complications ; Dysostoses/diagnostic imaging ; Dysostoses/genetics ; Dysostoses/physiopathology ; Female ; Homozygote ; Humans ; Mutation ; Pedigree ; Pelvis/diagnostic imaging ; Pelvis/physiopathology ; Phenotype ; Radiography ; Shoulder/diagnostic imaging ; Shoulder/physiopathology
SCR Disease Name :
Pelviscapular dysplasia
Czasopismo naukowe
Tytuł :
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.
Autorzy :
Kiper PÖ; Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. />Utine GE
Boduroğlu K
Alanay Y
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2011 Sep; Vol. 155A (9), pp. 2288-92. Date of Electronic Publication: 2011 Aug 10.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Abnormalities, Multiple/*genetics
Hand Deformities, Congenital/*genetics
Pierre Robin Syndrome/*genetics
Adult ; Chromosome Disorders/genetics ; Cleft Palate/genetics ; Consanguinity ; Female ; Genes, Recessive ; Humans ; Infant ; Male
SCR Disease Name :
Catel Manzke syndrome
Czasopismo naukowe
Tytuł :
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
Autorzy :
Utine GE; Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey. />Breckpot J
Thienpont B
Alanay Y
Aksoy C
Boduroğlu K
Devriendt K
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2010 Apr; Vol. 152A (4), pp. 947-9.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Abnormalities, Multiple/*pathology
Growth Disorders/*complications
Hand Deformities, Congenital/*complications
Hearing Loss/*complications
Intellectual Disability/*complications
Microcephaly/*complications
Orbital Diseases/*complications
Child ; Child, Preschool ; Facies ; Female ; Foot Deformities, Congenital/complications ; Foot Deformities, Congenital/diagnostic imaging ; Hand Deformities, Congenital/diagnostic imaging ; Hip/abnormalities ; Humans ; Infant ; Infant, Newborn ; Pregnancy ; Radiography ; Scoliosis/complications ; Scoliosis/diagnostic imaging ; Syndrome
Czasopismo naukowe
Tytuł :
Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance.
Autorzy :
Utine GE; Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey. />Alanay Y
Aktaş D
Alikaşifoğlu M
Boduroğlu K
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2009 Jun; Vol. 149A (6), pp. 1317-8.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Abnormalities, Multiple/*genetics
Intelligence/*genetics
Metatarsal Bones/*abnormalities
Microcephaly/*genetics
Child ; Genes, Recessive ; Humans ; Male ; Metatarsal Bones/diagnostic imaging ; Radiography
Czasopismo naukowe

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