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Wyświetlanie 1-18 z 18
Tytuł :
Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.
Autorzy :
Akgün Doğan Ö; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
Demir GÜ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kosukcu C; 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 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.
Alikaşifoğlu M; 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 :
European journal of medical genetics [Eur J Med Genet] 2019 Jun; Vol. 62 (6), pp. 103535. Date of Electronic Publication: 2018 Sep 11.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Phenotype*
Abnormalities, Multiple/*genetics
Intellectual Disability/*genetics
Phosphorus Metabolism Disorders/*genetics
Receptors, Cell Surface/*genetics
Abnormalities, Multiple/blood ; Abnormalities, Multiple/pathology ; Alkaline Phosphatase/blood ; Carboxylic Ester Hydrolases ; Diagnosis, Differential ; Female ; Humans ; Infant ; Intellectual Disability/blood ; Intellectual Disability/pathology ; Male ; Phosphorus Metabolism Disorders/blood ; Phosphorus Metabolism Disorders/pathology ; Siblings
SCR Disease Name :
Hyperphosphatasia with Mental Retardation
Czasopismo naukowe
Tytuł :
An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
Autorzy :
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.
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Źródło :
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.
Typ publikacji :
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
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 :
HERC1 mutations in idiopathic intellectual disability.
Autorzy :
Utine GE; Hacettepe University, Faculty of Medicine, Department of Pediatric Genetics, Ankara, Turkey. Electronic address: .
Taşkıran EZ; Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
Koşukcu C; Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
Karaosmanoğlu B; Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
Güleray N; Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
Doğan ÖA; Hacettepe University, Faculty of Medicine, Department of Pediatric Genetics, Ankara, Turkey.
Kiper PÖ; Hacettepe University, Faculty of Medicine, Department of Pediatric Genetics, Ankara, Turkey.
Boduroğlu K; Hacettepe University, Faculty of Medicine, Department of Pediatric Genetics, Ankara, Turkey.
Alikaşifoğlu M; Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
Pokaż więcej
Źródło :
European journal of medical genetics [Eur J Med Genet] 2017 May; Vol. 60 (5), pp. 279-283. Date of Electronic Publication: 2017 Mar 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Guanine Nucleotide Exchange Factors/*genetics
Intellectual Disability/*genetics
Child, Preschool ; Humans ; Male ; Ubiquitin-Protein Ligases
Czasopismo naukowe
Tytuł :
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.
Autorzy :
Kilic E; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey .
Cetinkaya A; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
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Źródło :
Journal of child neurology [J Child Neurol] 2016 Jun; Vol. 31 (7), pp. 913-7. Date of Electronic Publication: 2016 Jan 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Hirschsprung Disease/*diagnosis
Hirschsprung Disease/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Microcephaly/*diagnosis
Microcephaly/*genetics
Zinc Finger E-box Binding Homeobox 2/*genetics
Child ; Child, Preschool ; Cohort Studies ; Diagnosis, Differential ; Face/abnormalities ; Facies ; Female ; Genetic Association Studies ; Hirschsprung Disease/physiopathology ; Humans ; Intellectual Disability/physiopathology ; Male ; Microcephaly/physiopathology ; Phenotype
SCR Disease Name :
Mowat-Wilson syndrome
Czasopismo naukowe
Tytuł :
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Autorzy :
Bramswig NC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany, .
Lüdecke HJ
Alanay Y
Albrecht B
Barthelmie A
Boduroglu K
Braunholz D
Caliebe A
Chrzanowska KH
Czeschik JC
Endele S
Graf E
Guillén-Navarro E
Kiper PÖ
López-González V
Parenti I
Pozojevic J
Utine GE
Wieland T
Kaiser FJ
Wollnik B
Strom TM
Wieczorek D
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Źródło :
Human genetics [Hum Genet] 2015 Jun; Vol. 134 (6), pp. 553-68. Date of Electronic Publication: 2015 Feb 28.
Typ publikacji :
Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Exome*
Mutation*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Face/*abnormalities
Foot Deformities, Congenital/*diagnosis
Foot Deformities, Congenital/*genetics
Hand Deformities, Congenital/*diagnosis
Hand Deformities, Congenital/*genetics
Hypotrichosis/*diagnosis
Hypotrichosis/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Micrognathism/*diagnosis
Micrognathism/*genetics
Neck/*abnormalities
Adult ; Aged, 80 and over ; Child ; DNA Helicases/genetics ; Diagnosis, Differential ; Facies ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Middle Aged ; Nerve Tissue Proteins/genetics ; Nuclear Proteins/genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Transcription Factors/genetics
SCR Disease Name :
Coffin-Siris syndrome; Nicolaides Baraitser syndrome
Czasopismo naukowe
Tytuł :
Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report.
Autorzy :
Şahin Y; Departments of aMedical Genetics bPediatrics, Pediatric Genetics, Hacettepe University, Ankara, Turkey cJena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Jena, Germany.
Kiper PÖ
Alanay Y
Liehr T
Utine GE
Boduroğlu K
Pokaż więcej
Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2014 Oct; Vol. 23 (4), pp. 147-51.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 3/*genetics
Diaphragmatic Eventration/*complications
Diaphragmatic Eventration/*genetics
Face/*abnormalities
Intellectual Disability/*complications
Intellectual Disability/*genetics
Child ; Child, Preschool ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Monosomy/genetics ; Pregnancy
Czasopismo naukowe
Tytuł :
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Autorzy :
Utine GE; Hacettepe University, Department of Pediatrics, Ankara, Turkey; Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey. Electronic address: .
Haliloğlu G; Hacettepe University, Department of Pediatrics, Ankara, Turkey; Hacettepe University, Department of Pediatric Neurology, Ankara, Turkey.
Volkan-Salancı B; Hacettepe University, Department of Pediatrics, Ankara, Turkey; Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey.
Çetinkaya A; Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey; Hacettepe University, Department of Medical Genetics, Ankara, Turkey.
Kiper PÖ; Hacettepe University, Department of Pediatrics, Ankara, Turkey; Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey.
Alanay Y; Hacettepe University, Department of Pediatrics, Ankara, Turkey; Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey.
Aktaş D; Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey; Hacettepe University, Department of Medical Genetics, Ankara, Turkey.
Anlar B; Hacettepe University, Department of Pediatrics, Ankara, Turkey; Hacettepe University, Department of Pediatric Neurology, Ankara, Turkey.
Topçu M; Hacettepe University, Department of Pediatrics, Ankara, Turkey; Hacettepe University, Department of Pediatric Neurology, Ankara, Turkey.
Boduroğlu K; Hacettepe University, Department of Pediatrics, Ankara, Turkey; Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey.
Alikaşifoğlu M; Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey; Hacettepe University, Department of Medical Genetics, 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] 2014 May; Vol. 18 (3), pp. 327-37. Date of Electronic Publication: 2014 Jan 25.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease/*etiology
Intellectual Disability/*genetics
Polymorphism, Single Nucleotide/*genetics
Uniparental Disomy/*etiology
Adolescent ; Child ; Child, Preschool ; DNA Copy Number Variations/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genetic Testing/methods ; Humans ; Male ; Microarray Analysis ; Uniparental Disomy/genetics ; Young Adult
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
Pokaż więcej
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 :
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Autorzy :
Wieczorek D; Institut für Humangenetik and.
Bögershausen N
Beleggia F
Steiner-Haldenstätt S
Pohl E
Li Y
Milz E
Martin M
Thiele H
Altmüller J
Alanay Y
Kayserili H
Klein-Hitpass L
Böhringer S
Wollstein A
Albrecht B
Boduroglu K
Caliebe A
Chrzanowska K
Cogulu O
Cristofoli F
Czeschik JC
Devriendt K
Dotti MT
Elcioglu N
Gener B
Goecke TO
Krajewska-Walasek M
Guillén-Navarro E
Hayek J
Houge G
Kilic E
Simsek-Kiper PÖ
López-González V
Kuechler A
Lyonnet S
Mari F
Marozza A
Mathieu Dramard M
Mikat B
Morin G
Morice-Picard F
Ozkinay F
Rauch A
Renieri A
Tinschert S
Utine GE
Vilain C
Vivarelli R
Zweier C
Nürnberg P
Rahmann S
Vermeesch J
Lüdecke HJ
Zeschnigk M
Wollnik B
Pokaż więcej
Źródło :
Human molecular genetics [Hum Mol Genet] 2013 Dec 20; Vol. 22 (25), pp. 5121-35. Date of Electronic Publication: 2013 Aug 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Abnormalities, Multiple/*genetics
Chromatin Assembly and Disassembly/*genetics
Face/*abnormalities
Foot Deformities, Congenital/*genetics
Hand Deformities, Congenital/*genetics
Hypotrichosis/*genetics
Intellectual Disability/*genetics
Micrognathism/*genetics
Neck/*abnormalities
Sequence Deletion/*genetics
Abnormalities, Multiple/pathology ; Adolescent ; Adult ; Carrier Proteins/genetics ; Child ; Child, Preschool ; Chromosomal Proteins, Non-Histone/genetics ; DNA-Binding Proteins/genetics ; Exome/genetics ; Face/pathology ; Facies ; Female ; Foot Deformities, Congenital/pathology ; Hand Deformities, Congenital/pathology ; High-Throughput Nucleotide Sequencing ; Humans ; Hypotrichosis/pathology ; Infant ; Infant, Newborn ; Intellectual Disability/pathology ; Karyotyping ; Male ; Micrognathism/pathology ; Mutation, Missense ; Neck/pathology ; Repressor Proteins ; SMARCB1 Protein ; Transcription Factors/genetics
SCR Disease Name :
Coffin-Siris syndrome; Nicolaides Baraitser 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
Pokaż więcej
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 :
Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.
Autorzy :
Utine GE; Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Celik T
Alanay Y
Alikaşifoğlu M
Boduroğlu K
Tunçbilek E
Aktaş D
Pokaż więcej
Źródło :
The Turkish journal of pediatrics [Turk J Pediatr] 2009 May-Jun; Vol. 51 (3), pp. 199-206.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Monosomy*
Trisomy*
Intellectual Disability/*genetics
Telomere/*genetics
Child ; Child, Preschool ; Chromosomes, Human, Pair 4/genetics ; Chromosomes, Human, Pair 9/genetics ; Female ; Hospitals, University ; Humans ; Male ; Turkey
Czasopismo naukowe
Tytuł :
Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.
Autorzy :
Utine GE; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Genetics, 06100 Sihhiye, Ankara, Turkiye. />Aktas D
Boduroğlu K
Alikasifoğlu M
Tunçbilek E
Pokaż więcej
Źródło :
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2007; Vol. 18 (2), pp. 171-7.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mosaicism*
Chromosomes, Human, Pair 21/*genetics
Craniofacial Abnormalities/*genetics
Fragile X Syndrome/*genetics
Intellectual Disability/*genetics
Monosomy/*genetics
Child, Preschool ; Chromosome Aberrations ; Chromosome Painting ; Comorbidity ; Craniofacial Abnormalities/diagnosis ; Facies ; Fragile X Syndrome/diagnosis ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/diagnosis ; Male ; Phenotype
Czasopismo naukowe
Tytuł :
Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology.
Autorzy :
Tunçbilek E
Alikasifoğlu M
Boduroğlu K
Aktas D
Anar B
Pokaż więcej
Źródło :
American journal of medical genetics [Am J Med Genet] 1999 May 28; Vol. 84 (3), pp. 202-3.
Typ publikacji :
Comment; Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Syndrome/*epidemiology
Fragile X Syndrome/*genetics
Intellectual Disability/*etiology
Adolescent ; Child ; Child, Preschool ; Female ; Genetic Testing ; Humans ; Male ; Turkey/epidemiology
Raport
    Wyświetlanie 1-18 z 18

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