Search Results - "Boduroglu, Koray"

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease by Simsek Kiper, Pelin O, Saito, Hiroaki, Gori, Francesca, Unger, Sheila, Hesse, Eric, Yamana, Kei, Kiviranta, Riku, Solban, Nicolas, Liu, Jeff, Brommage, Robert, Boduroglu, Koray, Bonafé, Luisa, Campos-Xavier, Belinda, Dikoglu, Esra, Eastell, Richard, Gossiel, Fatma, Harshman, Keith, Nishimura, Gen, Girisha, Katta M, Stevenson, Brian J, Takita, Hiroyuki, Rivolta, Carlo, Superti-Furga, Andrea, Baron, Roland

“…Little is known about the regulation of cortical bone. This genetic study showed that suppression of Wnt-signaling pathways by secreted frizzled-related…”
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Professional, educational and psychosocial impacts of the COVID-19 pandemic on pediatricians by Murğ, İdris, Leventoğlu, Emre, Bideci, Aysun, Boduroğlu, Koray, Hasanoğlu, Enver, Bakkaloğlu, Sevcan A

“…COVID-19 infection is not limited to medical aspects, but may have significant negative impacts on education, tourism, the economy as well as sociocultural,…”
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A spectrum of TP63-related disorders with eight affected individuals in five unrelated families by Soğukpınar, Merve, Utine, Gülen Eda, Boduroğlu, Koray, Şimşek-Kiper, Pelin Özlem

“…TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft…”
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Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum by Güleray, Naz, Koşukcu, Can, Oğuz, Sümeyra, Ürel Demir, Gizem, Taşkıran, Ekim Z., Kiper, Pelin Özlem Şimşek, Utine, Gülen Eda, Alanay, Yasemin, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

“…Objective Oculoauriculovertebral spectrum (OAVS) is a genetically and clinically heterogeneous disorder that occurs due to a developmental field defect of the…”
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Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients by Akalın, Akçahan, Ertuğrul, İlker, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Boduroğlu, Koray

“…Turner syndrome (TS) is one of the most common malformation syndromes in females. A total number of 107 TS patients, diagnosed between 2000 and 2018, were…”
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Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience by Simsek-Kiper, Pelin Ozlem, Urel-Demir, Gizem, Taskiran, Ekim Z., Arslan, Umut Ece, Nur, Banu, Mihci, Ercan, Haliloglu, Mithat, Alanay, Yasemin, Utine, Gulen Eda, Boduroglu, Koray

“…Acromesomelic dysplasia type Maroteaux (AMDM, OMIM #602875) is an autosomal recessive disorder characterized by severe short stature, shortened middle and…”
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A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy by Utine, G. Eda, Haliloğlu, Göknur, Salancı, Bilge, Çetinkaya, Arda, Kiper, P. Özlem, Alanay, Yasemin, Aktaş, Dilek, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

“…GRID2 is a member of the ionotropic glutamate receptor family of excitatory neurotransmitter receptors. GRID2 encodes the glutamate receptor subunit delta-2,…”
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Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature by Akalın, Akçahan, Taskiran, Ekim Z., Şimşek‐Kiper, Pelin Özlem, Utine, Eda, Alanay, Yasemin, Özçelik, Uğur, Boduroğlu, Koray

“…Spondyloepimetaphyseal dysplasia (SEMD) is a group of genetic skeletal disorders characterized by disproportionate short stature, and varying degrees of…”
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Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions by Akalın, Akçahan, Şimşek-Kiper, Pelin Ö., Taşkıran, Ekim, Utine, Gülen E., Boduroğlu, Koray

“…Introduction: 3M syndrome is an autosomal recessive disorder characterized by characteristic facial features, severe pre- and postnatal growth restriction (<–4…”
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Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta by Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah

“…Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or…”
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A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome by Kilic, Esra, Cetinkaya, Arda, Utine, Gülen Eda, Boduroğlu, Koray

“…Mowat-Wilson syndrome is a multiple congenital anomaly and intellectual disability syndrome characterized by a unique face and various other structural and…”
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A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features by Akalın, Akçahan, Şimşek‐Kiper, Pelin Özlem, Taşkıran, Ekim Z., Karaosmanoğlu, Beren, Utine, Gülen Eda, Boduroğlu, Koray

“…Primordial dwarfism (PD) is one of a highly heterogeneous group of disorders characterized by severe prenatal/postnatal growth restriction. Defects in various…”
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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features by Kındış, Erdem, Simsek‐Kiper, Pelin Özlem, Koşukcu, Can, Taşkıran, Ekim Z., Göçmen, Rahşan, Utine, Eda, Haliloğlu, Göknur, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

“…Colony stimulating factor 1 receptor (CSF1R, MIM# 164770) encodes a tyrosine‐kinase receptor playing an important role in development of osteoclasts and…”
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Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea? by Hizal, Mina, Satırer, Ozlem, Polat, Sanem Eryilmaz, Tural, Dilber Ademhan, Ozsezen, Beste, Sunman, Birce, Karahan, Sevilay, Emiralioglu, Nagehan, Simsek-Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray, Yalcin, Ebru, Dogru, Deniz, Kiper, Nural, Ozcelik, Ugur

“…The objectives are to explore the demographic and polysomnographic features of children with Down syndrome and to determine the predictive factors associated…”
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Syrian Children in Turkey: A Model of Action for National Pediatric Societies by Özmert, Elif N, Derman, Orhan, Bideci, Aysun, Okumuş, Nurullah, Boduroğlu, Koray, Bakkaloğlu, Sevcan, Hasanoğlu, Enver, Alden, Errol

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Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients by Akalın, Akçahan, Özşin, Cansu, Koç, Nagihan, Demir, Gizem Ürel, Alanay, Yasemin, Utine, Eda, Boduroğlu, Koray, Tekçiçek, Meryem, Şimşek-Kiper, Pelin Özlem

“…Genetic skeletal disorders are clinically and genetically heterogeneous group of disorders that affect the normal development, growth, and maintenance of the…”
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Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings by Soyer, Tutku, Karaosmanoglu, Beren, Taskiran, Ekim Z., Kiper, Pelin Özlem Şimşek, Karnak, İbrahim, Boduroğlu, Koray, Utine, Gülen Eda

“…Pyloric atresia (PA) is a rare gastrointestinal anomaly that occurs either as an isolated lesion or in association with other congenital or hereditary…”
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Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype by Ürel-Demir, Gizem, Şimşek-Kiper, Pelin Özlem, Öncel, İbrahim, Utine, Gülen Eda, Haliloğlu, Göknur, Boduroğlu, Koray

“…TRPV4-related disorders constitute a broad spectrum of clinical phenotypes including several genetic skeletal and neuromuscular disorders, in which clinical…”
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Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome by Daşar, Tuğba, Gönen, Hasibe Nesligül, Kösemehmetoğlu, Kemal, Tekşam, Özlem, Boduroğlu, Koray, Utine, Gülen Eda, Şimşek Kiper, Pelin Özlem

“…Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of…”
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A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type by Dasar, Tugba, Donkervoort, Sandra, Kiper, Pelin Ozlem Simsek, Gocmen, Rahsan, Utine, Gulen Eda, Boduroglu, Koray, Bonnemann, Carsten, Haliloglu, Goknur

“…Ehlers Danlos syndrome musculocontractural type (mcEDS) is a rare hereditary connective tissue disorder caused by biallelic pathogenic variants in the CHST14…”
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