Zobrazeno 1 - 10
of 168
pro vyhledávání: '"Tulay Guran"'
Autor:
Nancy Keller, Julian Midgley, Ehtesham Khalid, Harry Lesmana, Georgie Mathew, Christine Mincham, Norbert Teig, Zubair Khan, Indu Khosla, Sam Mehr, Tulay Guran, Kathrin Buder, Hong Xu, Khalid Alhasan, Gonul Buyukyilmaz, Nicole Weaver, Julie D. Saba
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a recently recognized inborn error of metabolism associated with steroid-resistant nephrotic syndrome as well as adrenal insufficiency and immunological, neurological
Externí odkaz:
https://doaj.org/article/001681b6efb54f18aee01a6b8c1590c9
Autor:
Zehra Yavas Abalı, Tulay Guran
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgens. The most common cause of 46,XX disorders/differ
Externí odkaz:
https://doaj.org/article/5c062e9399104ede89b4a9cbc6f150e6
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Tim Cheetham, Sukran Poyrazoglu, Justin H Davies, S Faisal Ahmed, Jillian Bryce, Anna Nordenström, Angela K Lucas-Herald, Paul-Martin Holterhus, Marcio Lopes Miranda, Stuart O’Toole, Eduardo Corrêa Costa, Kathryn Scougall, Federico Baronio, Rachel L Boal, Jose Roberto Castera, Sebastián Castro, Feyza Darendeliler, Mirjam Dirlewanger, Gabriella Gazdagh, Evgenia Globa, Gil Guerra-Junior, Tulay Guran, Gloria Herrmann, Ahsen Karagözlü Akgül, Renata Markosyan, Kenneth McElreavey, Gianni Russo, Valerie Schwitzgebel, Marianna Stancampiano, Michael Steigert
Publikováno v:
World Journal of Pediatric Surgery, Vol 6, Iss 4 (2023)
Background Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence.Methods Data from boys with hypospadias born between 2000 and 2020 were obtained from the Internat
Externí odkaz:
https://doaj.org/article/b2a11fe3b8a642f185956951b5a23a49
Autor:
Serap Turan, Steven Mumm, Ceren Alavanda, Betul Sare Kaygusuz, Busra Gurpinar Tosun, Ahmet Arman, Margaret Huskey, Tulay Guran, Shenghui Duan, Abdullah Bereket, Michael P. Whyte
Publikováno v:
JBMR Plus, Vol 6, Iss 8, Pp n/a-n/a (2022)
ABSTRACT Dysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicular osteosclerosis, has become generic by encompassing the genetic heterogeneity recently reported for this
Externí odkaz:
https://doaj.org/article/8154fb917ffb49d3850c595ac9649403
Autor:
Gulin Sunter, Ece Oge Enver, Azad Akbarzade, Serap Turan, Pinar Vatansever, Dilek Ince Gunal, Goncagul Haklar, Abdullah Bereket, Kadriye Agan, Tulay Guran
Publikováno v:
BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
Abstract Background Congenital sphingosine-1-phosphate (S1P) lyase deficiency due to biallelic mutations in SGPL1 gene has recently been described in association with primary adrenal insufficiency and steroid-resistant nephrotic syndrome. S1P lyase,
Externí odkaz:
https://doaj.org/article/bd219541ea214e42ad4d4ea3ea85a112
Autor:
Fatma Dursun, Hulya Maras Genc, Ayşe Mine Yılmaz, Ibrahim Tas, Metin Eser, Cemile Pehlivanoglu, Betul Karademir Yilmaz, Tulay Guran
Publikováno v:
European Journal of Endocrinology. 187:K27-K32
Background Biallelic QRSL1 mutations cause mitochondrial ‘combined oxidative phosphorylation deficiency-40’ (COXPD40). COXPD40 has been reported to be invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b04283ef3701f65d1012443dce9352f
https://doi.org/10.1530/eje-22-0233
https://doi.org/10.1530/eje-22-0233
Autor:
Diğdem Bezen, Orkide Kutlu, Stephane Mouilleron, Karine Rizzoti, Mehul Dattani, Tulay Guran, Gözde Yeşil
Publikováno v:
American Journal of Medical Genetics Part A. 188:2701-2706
Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual disability, hypogonadis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65aeb426f981f2dc4780eefcc6c6d9db
https://doi.org/10.1002/ajmg.a.62888
https://doi.org/10.1002/ajmg.a.62888
Publikováno v:
Hormone Research in Paediatrics.
Introduction: Endogenous Cushing’s syndrome (CS) is a rare, severe disease that can cause multiple systemic involvement and behavioral problems due to excessive cortisol production. Structural changes can be noted in the brain magnetic resonance im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4860e3a9b4b5afa4d0d3959999c303ac
https://doi.org/10.1159/000530391
https://doi.org/10.1159/000530391
Autor:
Tarık Kırkgöz, Sare Betül Kaygusuz, Ceren Alavanda, Didem Helvacıoğlu, Zehra Yavaş Abalı, Büşra Gürpınar Tosun, Mehmet Eltan, Tuba Seven Menevşe, Tulay Guran, Ahmet Arman, Serap Turan, Abdullah Bereket
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2adab1034f1ff76fd0c1788e8e473cb1
https://doi.org/10.1515/jpem-2022-0645
https://doi.org/10.1515/jpem-2022-0645