Yazar "Guven, Ayla" için listeleme
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Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism
Guven, Ayla; Cebeci, Ayse Nurcan; Ellard, Sian; Flanagan, Sarah E. (GALENOS YAYINCILIK, 2016)Objective: Mutations in the K-ATP channel genes is the most common cause of congenital hyperinsulinism (CHI) of infancy. Our aim was to report the clinical and genetic characteristics, treatment modalities, and long-term ... -
Five novel ALMS1 gene mutations in six patients with Alstrom syndrome
Kilinc, Suna; Yucel-Yilmaz, Didem; Ardagil, Aylin; Apaydin, Suheyla; Valverde, Diana; Ozgul, Riza Koksal; Guven, Ayla (WALTER DE GRUYTER GMBH, 2018)Background: Alstrom syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel mutational screening findings in six patients with Alstrom ... -
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
Guven, Ayla; Al-Rijjal, Roua A.; BinEssa, Huda A.; Dogan, Durmus; Kor, Yilmaz; Zou, Minjing; Kaya, Namik; Alenezi, Anwar F.; Hancili, Suna; Tarim, Omer; Baitei, Essa Y.; Kattan, Walaa E.; Meyer, Brian F.; Shi, Yufei (WILEY, 2017)ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. ObjectiveTo investigate underlying genetic defects ... -
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome
Hancili, Suna; Bonnefond, Amelie; Philippe, Julien; Vaillant, Emmanuel; De Graeve, Franck; Sand, Olivier; Busiah, Kanetee; Robert, Jean-Jacques; Polak, Michel; Froguel, Philippe; Guven, Ayla; Vaxillaire, Martine (WILEY, 2018)Neonatal diabetes mellitus (NDM) is a rare form of non-autoimmune diabetes usually diagnosed in the first 6months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable ... -
PHENOTYPIC, HORMONAL AND MOLECULAR GENETIC CHARACTERISTICS OF 5-ALPHA REDUCTASE TYPE 2 DEFICIENCY PATIENTS: A MULTICENTER STUDY FROM TURKEY
Abaci, Ayhan; Catli, Gonul; Kirbiyik, Ozgur; Sahin, Nursel M.; Abali, Zehra Y.; Unal, Edip; Siklar, Zeynep; Ucakturk, Eda M.; Ozen, Samim; Guran, Tulay; Kara, Cengiz; Yildiz, Melek; Eren, Erdal; Nalbantoglu, Ozlem; Guven, Ayla; Cayir, Atilla; Akbas, Emine D.; Kor, Yilmaz; Curek, Yusuf; Aycan, Zehra; Bas, Firdevs; Darcan, Sukran; Berberoglu, Merih (KARGER, 2017)… -
Protein Expression in the Diagnosis of LRBA Deficiency by Flow Cytometer
Ogulur, Ismail; Kiykim, Ayca; Nain, Ercan; Somer, Ayper; Guven, Ayla; Baris, Safa; Ozen, Ahmet; Karakoc Aydiner, Elif (BILIMSEL TIP YAYINEVI, 2017)Objective: Lipopolysaccharide-responsive beige-like anchor (LRBA) plays a role in cell surface expression of inhibitory cytotoxic T lymphocyte-associated protein-4 (CTLA-4) protein. Recently identified LRBA deficiency leads ... -
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
Guran, Tulay; Buonocore, Federica; Saka, Nurcin; Ozbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Bas, Firdevs; Darcan, Sukran; Bideci, Aysun; Guven, Ayla; Demir, Korcan; Akinci, Aysehan; Buyukinan, Muammer; Aydin, Banu Kucukemre; Turan, Serap; Agladioglu, Sebahat Yilmaz; Atay, Zeynep; Abali, Zehra Yavas; Tarim, Omer; Catli, Gonul; Yuksel, Bilgin; Akcay, Teoman; Yildiz, Metin; Ozen, Samim; Doger, Esra; Demirbilek, Huseyin; Ucar, Ahmet; Isik, Emregul; Ozhan, Bayram; Bolu, Semih; Ozgen, Ilker Tolga; Suntharalingham, Jenifer P.; Achermann, John C. (ENDOCRINE SOC, 2016)Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular ... -
Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up
Guven, Ayla (WALTER DE GRUYTER GMBH, 2017)Background: Endocrine evaluation and long-term follow-up of seven (six male) patients with Williams-Beuren syndrome (WBS) are given. Method: Data were obtained from patients' medical records. All patients underwent hormonal ... -
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Briggs, Tracy A.; Rice, Gillian I.; Adib, Navid; Ades, Lesley; Barete, Stephane; Baskar, Kannan; Baudouin, Veronique; Cebeci, Ayse N.; Clapuyt, Philippe; Coman, David; De Somer, Lien; Finezilber, Yael; Frydman, Moshe; Guven, Ayla; Heritier, Sebastien; Karall, Daniela; Kulkarni, Muralidhar L.; Lebon, Pierre; Levitt, David; Le Merrer, Martine; Linglart, Agnes; Livingston, John H.; Navarro, Vincent; Okenfuss, Ericka; Puel, Anne; Revencu, Nicole; Scholl-Burgi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J. (SPRINGER/PLENUM PUBLISHERS, 2016)Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of ... -
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey (vol 36, pg 220, 2016)
Briggs, Tracy A.; Rice, Gillian I.; Adib, Navid; Ades, Lesley; Barete, Stephane; Baskar, Kannan; Baudouin, Veronique; Cebeci, Ayse N.; Clapuyt, Philippe; Coman, David; De Somer, Lien; Finezilber, Yael; Frydman, Moshe; Guven, Ayla; Heritier, Sebastien; Karall, Daniela; Kulkarni, Muralidhar L.; Lebon, Pierre; Levitt, David; Le Merrer, Martine; Linglart, Agnes; Livingston, John H.; Navarro, Vincent; Okenfuss, Ericka; Puel, Anne; Revencu, Nicole; Scholl-Buergi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J. (SPRINGER/PLENUM PUBLISHERS, 2016)… -
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene
Guven, Ayla; Polat, Seher (GALENOS YAYINCILIK, 2017)Testicular adrenal rest tumors (TART) occur frequently in adolescents and adults with 21-hydroxylase deficiency. There have been no reports of TART in children with 3 beta-hydroxysteroid dehydrogenase deficiency (HSD3 ...
