Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Koray, Boduroğlu"'
Autor:
Tuğba Daşar, Sandra Donkervoort, Pelin Özlem Şimşek Kiper, Rahşan Göçmen, Gülen Eda Utine, Koray Boduroğlu, Carsten Bonnemann, Göknur Haliloğlu
Publikováno v:
Journal of Pediatric Research, Vol 9, Iss 3, Pp 297-301 (2022)
Ehlers Danlos syndrome musculocontractural type (mcEDS) is a rare hereditary connective tissue disorder caused by biallelic pathogenic variants in the CHST14 or dermatan sulfate (DS) epimerase genes resulting in defective DS biosynthesis. It is chara
Externí odkaz:
https://doaj.org/article/b1c968dd33114e93b6ec83486f24e60d
Autor:
Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş, Koray Boduroğlu, Mehmet Alikaşifoğlu, Ergül Tunçbilek
Publikováno v:
Journal of Pediatric Research, Vol 4, Iss 2, Pp 63-67 (2017)
Aim: Gorlin syndrome is an autosomal dominant disorder characterized by cutaneous basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. Predisposition to certain types of cancers is among the main features of the disease. Chromosome
Externí odkaz:
https://doaj.org/article/3d949a63ce1549af89babbf3e9d713a7
Autor:
Nural Kiper, Nagehan Emiralioglu, Ugur Ozcelik, Sevilay Karahan, Ozlem Satırer, Gülen Eda Utine, Deniz Dogru, Beste Ozsezen, Birce Sunman, Ebru Yalcin, Sanem Eryilmaz Polat, Mina Gharibzadeh Hizal, Koray Boduroğlu, Dilber Ademhan Tural, Pelin Ozlem Simsek-Kiper
Publikováno v:
European Journal of Pediatrics. 181:735-743
The objectives are to explore the demographic and polysomnographic features of children with Down syndrome and to determine the predictive factors associated with severe sleep apnea. A total of 81 children with Down syndrome referred for full-night p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::405c479ef43a2f1ed75bc27d133a03dc
https://doi.org/10.1007/s00431-021-04267-w
https://doi.org/10.1007/s00431-021-04267-w
Autor:
Ekim Z. Taskiran, Akçahan Akalın, Ugur Ozcelik, Pelin Ozlem Simsek-Kiper, Yasemin Alanay, Koray Boduroğlu, Eda Utine
Publikováno v:
American Journal of Medical Genetics Part A. 185:3104-3110
Spondyloepimetaphyseal dysplasia (SEMD) is a group of genetic skeletal disorders characterized by disproportionate short stature, and varying degrees of vertebral, epiphyseal, and metaphyseal involvement of the skeleton. According to the Nosology and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e688d1cd22549ae2e17597f23aaf820
https://doi.org/10.1002/ajmg.a.62378
https://doi.org/10.1002/ajmg.a.62378
Autor:
Özlem Akgün-Doğan, Anna Schossig, Koray Boduroğlu, Johannes Zschocke, Gülen Eda Utine, Ekim Z. Taskiran, Pelin Ozlem Simsek-Kiper
Publikováno v:
Journal of Child Neurology. 36:816-822
Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2caca503d4e3cbe7f630f774e28faf5c
https://doi.org/10.1177/08830738211004736
https://doi.org/10.1177/08830738211004736
Autor:
Akçahan Akalın, Cansu Özşin, Nagihan Koç, Gizem Ürel Demir, Yasemin Alanay, Eda Utine, Koray Boduroğlu, Meryem Tekçiçek, Pelin Özlem Şimşek-Kiper
Publikováno v:
European Journal of Medical Genetics. 66:104708
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf7dcaa5f529e07c2fcca04f78e33b07
https://doi.org/10.1016/j.ejmg.2023.104708
https://doi.org/10.1016/j.ejmg.2023.104708
Autor:
Gülen Eda Utine, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, Beren Karaosmanoglu, Ekim Z. Taskiran, Koray Boduroğlu, Gizem Ürel-Demir, Busra Aydin
Publikováno v:
Mol Syndromol
Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder which represents a phenotype mainly involving craniofacial and neurodevelopmental manifestations due to UBE3B gene mutations. The vast majority of the affected individuals exh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36799ac047b4b9cfd610136303eb3b34
https://doi.org/10.1159/000513078
https://doi.org/10.1159/000513078
Publikováno v:
Mol Syndromol
Introduction: 3M syndrome is an autosomal recessive disorder characterized by characteristic facial features, severe pre- and postnatal growth restriction (CUL7), obscurin-like 1 (OBSL1), and coiled coil domain containing protein 8 (CCDC8). Case pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9378d1970e0a8823da5ac1205bf51309
https://europepmc.org/articles/PMC9843558/
https://europepmc.org/articles/PMC9843558/
Autor:
Banu Güzel Nur, Gülen Eda Utine, Umut Arslan, Ekim Z. Taskiran, Pelin Ozlem Simsek-Kiper, Koray Boduroğlu, Gizem Ürel-Demir, Mithat Haliloglu, Yasemin Alanay, Ercan Mihci
Publikováno v:
Journal of Human Genetics. 66:585-596
Acromesomelic dysplasia type Maroteaux (AMDM, OMIM #602875) is an autosomal recessive disorder characterized by severe short stature, shortened middle and distal segments of the limbs, redundant skin of fingers, radial head subluxation or dislocation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386ebe02a222f1240056a7abd7b1af5e
https://doi.org/10.1038/s10038-020-00871-0
https://doi.org/10.1038/s10038-020-00871-0
Autor:
Gülen Eda Utine, Ekim Z. Taskiran, Can Kosukcu, Ayfer Alikasifoglu, Pelin Ozlem Simsek-Kiper, Mehmet Alikasifoglu, Dogus Vuralli, Koray Boduroğlu
Publikováno v:
Mol Syndromol
Several endocrine disorders have been defined in patients with Costello syndrome (CS). In this report, we describe a patient with CS accompanied by a clinical picture of hyperinsulinemic hypoglycemia responsive to diazoxide treatment. A 41-day-old fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134df51aee8c924305d1963df2f88294
https://doi.org/10.1159/000510171
https://doi.org/10.1159/000510171