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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Author / Creator:Nashabat, Marwan ; Nabavizadeh, Nasrinsadat ; Saraçoğlu, Hilal Pırıl ; Sarıbaş, Burak ; Avcı, Şahin ; Börklü, Esra ; Beillard, Emmanuel ; Yılmaz, Elanur ; Uygur, Seyide Ecesu ; Kayhan, Cavit Kerem ; Bosco, Luca ; Eren, Zeynep Bengi ; Steindl, Katharina ; Richter, Manuela Friederike ; Bademci, Guney ; Rauch, Anita ; Fattahi, Zohreh ; Valentino, Maria Lucia ; Connolly, Anne M. ; Bahr, Angela ; Viola, Laura ; Bergmann, Anke Katharina ; Rocha, Maria Eugenia ; Peart, LeShon ; Castro-Rojas, Derly Liseth ; Bültmann, Eva ; Khan, Suliman ; Giarrana, Miriam Liliana ; Teleanu, Raluca Ioana ; Gonzalez, Joanna Michelle ; Pini, Antonella ; Schädlich, Ines Sophie ; Vill, Katharina ; Brugger, Melanie ; Zuchner, Stephan ; Pinto, Andreia ; Donkervoort, Sandra ; Bivona, Stephanie Ann ; Riza, Anca ; Streata, Ioana ; Gläser, Dieter ; Baquero-Montoya, Carolina ; Garcia-Restrepo, Natalia ; Kotzaeridou, Urania ; Brunet, Theresa ; Epure, Diana Anamaria ; Bertoli-Avella, Aida ; Kariminejad, Ariana ; Tekin, Mustafa ; von Hardenberg, Sandra ; Bönnemann, Carsten G. ; Stettner, Georg M. ; Zanni, Ginevra ; Kayserili, Hülya ; Oflazer, Zehra Piraye ; Escande-Beillard, Nathalie
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-02, Vol.15 (1), p.1758-1758, Article 1758
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Clinical exome sequencing in neuromuscular diseases: an experience from Turkey
Author / Creator:Börklü-Yücel, Esra ; Demiriz, Çiğdem ; Avcı, Şahin ; Vanlı-Yavuz, Ebru Nur ; Eraslan, Serpil ; Oflazer, Piraye ; Kayserili, Hülya
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2020-08, Vol.41 (8), p.2157-2164
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An 8-month-old infant with hypercalcemia and hyperphosphatemia: Questions
Author / Creator:Özler, Oğuz ; Mutlu, Gül Yeşiltepe ; Taşdemir, Mehmet ; Avcı, Şahin ; Bilge, Ilmay ; Hatun, Şükrü
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2021-03, Vol.36 (3), p.561-562
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An 8-month-old infant with hypercalcemia and hyperphosphatemia—Answers
Author / Creator:Özler, Oğuz ; Mutlu, Gül Yeşiltepe ; Taşdemir, Mehmet ; Avcı, Şahin ; Bilge, Ilmay ; Hatun, Şükrü
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2021-03, Vol.36 (3), p.563-566
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Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia
Author / Creator:Bülbül, Mustafa Cem ; Avcı, Şahin ; Yelken, Berna ; Koçak, Burak ; Akay, Olga Meltem
Publisher:Turkey: Galenos Publishing House
Journal title:Turkish journal of haematology, 2023-01, Vol.40 (3), p.232-233
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PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Author / Creator:Kardelen, Aslı Derya ; Najaflı, Adam ; Baş, Firdevs ; Karaman, Birsen ; Toksoy, Güven ; Poyrazoğlu, Şükran ; Avcı, Şahin ; Altunoğlu, Umut ; Yavaş Abalı, Zehra ; Öztürk, Ayşe Pınar ; Karakılıç-Özturan, Esin ; Başaran, Seher ; Darendeliler, Feyza ; Uyguner, Z. Oya
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Journal of clinical research in pediatric endocrinology, 2023-12, Vol.15 (4), p.338-347
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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
Author / Creator:Akcan, Neşe ; Uyguner, Oya ; Baş, Firdevs ; Altunoğlu, Umut ; Toksoy, Güven ; Karaman, Birsen ; Avcı, Şahin ; Yavaş Abalı, Zehra ; Poyrazoğlu, Şükran ; Aghayev, Agharza ; Karaman, Volkan ; Bundak, Rüveyde ; Başaran, Seher ; Darendeliler, Feyza
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Journal of clinical research in pediatric endocrinology, 2022-06, Vol.14 (2), p.153-171
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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Author / Creator:Aksu Uzunhan, Tuğçe ; Ertürk, Biray ; Aydın, Kürşad ; Ayaz, Akif ; Altunoğlu, Umut ; Yarar, Murat Hakkı ; Gezdirici, Alper ; İçağasıoğlu, Dilara Füsun ; Gökpınar İli, Ezgi ; Uyanık, Bülent ; Eser, Metin ; Kutbay, Yaşar Bekir ; Topçu, Yasemin ; Kılıç, Betül ; Bektaş, Gonca ; Arduç Akçay, Ayfer ; Ekici, Barış ; Chousein, Amet ; Avcı, Şahin ; Yüksel, Atıl ; Kayserili, Hülya
Publisher:Netherlands: Elsevier B.V
Journal title:Clinical neurology and neurosurgery, 2023-01, Vol.224, p.107560-107560, Article 107560
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A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
Author / Creator:Kardelen, Aslı Derya ; Toksoy, Güven ; Baş, Firdevs ; Yavaş Abalı, Zehra ; Gençay, Genco ; Poyrazoğlu, Şükran ; Bundak, Rüveyde ; Altunoğlu, Umut ; Avcı, Şahin ; Najaflı, Adam ; Uyguner, Oya ; Karaman, Birsen ; Başaran, Seher ; Darendeliler, Feyza
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Journal of clinical research in pediatric endocrinology, 2018-09, Vol.10 (3), p.206-215
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Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Author / Creator:Rüstemoğlu, Burcu Sevinç ; Samanci, Bedia ; Tepgeç, Fatih ; Kürtüncü, Murat ; Altunoglu, Umut ; Gündüz, Tuncay ; Yeşil, Gözde ; Avcı, Şahin ; Gürvit, Hakan ; Bilgiç, Başar ; Toksoy, Güven ; Eraksoy, Mefkure ; Hanağası, Haşmet ; Uyguner, Zehra Oya
Publisher:Galenos Yayinevi
Journal title:Türk nöroloji dergisi, 2021-09, Vol.27 (3), p.240-247
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Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye
Author / Creator:Dilruba Aslanger, Ayça ; Güleç, Çağrı ; Kalaycı, Tuğba ; Şengenç, Esma ; Avcı, Şahin ; Altunoğlu, Umut ; Karaman, Volkan ; Toksoy, Güven ; Karaca, Meryem ; İşcan, Akın ; Gökçay, Gülden ; Yeşil, Gözde ; Uyguner, Oya
Publisher:Istanbul: Galenos Publishing House
Journal title:Medical journal of Bakirköy, 2023-06, Vol.19 (2), p.222-228
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Association between HBA locus copy number gains and pathogenic HBB gene variants
Author / Creator:Toksoy, Güven ; Akay, Nergis ; Aghayev, Agharza ; Karaman, Volkan ; Avcı, Şahin ; Kalayci, Tugba ; Altunoğlu, Umut ; Karakaş, Zeynep ; Zehra Oya Uyguner
Publisher:Istanbul: Kare Publishing
Journal title:International journal of medical biochemistry, 2021-01, Vol.4 (2), p.91
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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Author / Creator:Ansari, Morad ; Poke, Gemma ; Ferry, Quentin ; Williamson, Kathleen ; Aldridge, Roland ; Meynert, Alison M ; Bengani, Hemant ; Chan, Cheng Yee ; Kayserili, Hülya ; Avci, Şahin ; Hennekam, Raoul C M ; Lampe, Anne K ; Redeker, Egbert ; Homfray, Tessa ; Ross, Alison ; Falkenberg Smeland, Marie ; Mansour, Sahar ; Parker, Michael J ; Cook, Jacqueline A ; Splitt, Miranda ; Fisher, Richard B ; Fryer, Alan ; Magee, Alex C ; Wilkie, Andrew ; Barnicoat, Angela ; Brady, Angela F ; Cooper, Nicola S ; Mercer, Catherine ; Deshpande, Charu ; Bennett, Christopher P ; Pilz, Daniela T ; Ruddy, Deborah ; Cilliers, Deirdre ; Johnson, Diana S ; Josifova, Dragana ; Rosser, Elisabeth ; Thompson, Elizabeth M ; Wakeling, Emma ; Kinning, Esther ; Stewart, Fiona ; Flinter, Frances ; Girisha, Katta M ; Cox, Helen ; Firth, Helen V ; Kingston, Helen ; Wee, Jamie S ; Hurst, Jane A ; Clayton-Smith, Jill ; Tolmie, John ; Vogt, Julie ; Tatton–Brown, Katrina ; Chandler, Kate ; Prescott, Katrina ; Wilson, Louise ; Behnam, Mahdiyeh ; McEntagart, Meriel ; Davidson, Rosemarie ; Lynch, Sally-Ann ; Sisodiya, Sanjay ; Mehta, Sarju G ; McKee, Shane A ; Mohammed, Shehla ; Holden, Simon ; Park, Soo-Mi ; Holder, Susan E ; Harrison, Victoria ; McConnell, Vivienne ; Lam, Wayne K ; Green, Andrew J ; Donnai, Dian ; Bitner-Glindzicz, Maria ; Donnelly, Deirdre E ; Nellåker, Christoffer ; Taylor, Martin S ; FitzPatrick, David R
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668
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Case Report and Current Literature Review of Adult Cerebrotendinous Xanthomatosis: Evaluation of Treatment Response Based on Gait Analysis Adult Cerebrotendinous Xanthomatosis
Author / Creator:Bulus, Eser ; Avci, Sahin ; Ozer, F. Feriha
Publisher:Istanbul: Galenos Publishing House
Journal title:Haseki tıp bülteni, 2024-09, Vol.62 (4), p.250-254
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Familial Focal Epilepsy with Variable Foci: A Novel DEPDC5 Gene Mutation
Author / Creator:Akdogan, Özlem ; Avci, Sahin ; Bauer, Peter ; Gürses, Candan
Publisher:India: Wolters Kluwer - Medknow
Journal title:Neurological sciences and neurophysiology, 2024-04, Vol.41 (2), p.118-120
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PRENATAL DIAGNOSIS OF ISOLATED SPLIT HAND/FOOT MALFORMATION: A CASE REPORT
Author / Creator:TÜRKYILMAZ, Gürcan ; AVCI, Şahin ; ERTÜRK, Emircan ; SARAÇ, Tuğba ; ALTUNOĞLU, Umut ; KALELİOĞLU, İbrahim ; HAS, Recep ; YÜKSEL, Atıl
Journal title:İstanbul Tıp Fakültesi dergisi = Journal of the Istanbul Faculty of Medicine, 2018-03
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Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
Author / Creator:Senturk, Leyli ; Gulec, Cagri ; Sarac Sivrikoz, Tugba ; Kayserili, Hulya ; Kalelioglu, Ibrahim Halil ; Avci, Sahin ; Has, Recep ; Coucke, Paul ; Kalayci, Tugba ; Wollnik, Bernd ; Karaman, Birsen ; Toksoy, Guven ; Symoens, Sofie ; Yigit, Gokhan ; Yuksel, Atil ; Basaran, Seher ; Tuysuz, Beyhan ; Altunoglu, Umut ; Uyguner, Zehra Oya
Publisher:Basel, Switzerland
Journal title:Fetal diagnosis and therapy, 2024, Vol.51 (3), p.285-299
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Clinical and Molecular Findings of Nine Cases with TaySachs Disease From Turkiye/Tay-Sachs Hastaligi Olan Turkiye'den Dokuz Olgunun Klinik ve Molekuler Bulgulari
Author / Creator:Aslanger, Ayca Dilruba ; Gulec, Cagri ; Kalayci, Tugba ; Sengenc, Esma ; Avci, Sahin ; Altunoglu, Umut ; Karaman, Volkan ; Toksoy, Guven ; Karaca, Meryem ; Iscan, Akin ; Gokcay, Gulden ; Yesil, Gozde ; Uyguner, Oya
Publisher:Galenos Yayinevi Tic. Ltd
Journal title:Medical journal of Bakirköy, 2023-06, Vol.19 (2), p.222
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JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE/TURKIYE'DE ALAGILLE SENDROMLU OLGULARDA JAG1 MUTASYON SPREKTRUMU
Author / Creator:Aslanger, Ayca Dilruba ; Yildirim, Behiye Tugce ; Kalayci, Tugba ; Senturk, Leyli ; Avci, Sahin ; Altunoglu, Umut ; Gulec, Cagri ; Karaman, Volkan ; Dogan, Guzide ; Onal, Zerrin ; Durmaz, Ozlem ; Karaman, Birsen ; Uyguner, Zehra Oya
Publisher:Istanbul University Press
Journal title:İstanbul Tıp Fakültesi dergisi = Journal of the Istanbul Faculty of Medicine, 2023-12, Vol.86 (4), p.327
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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children With 46,XY DSD
Author / Creator:Akcan, Nese ; Uyguner, Oya ; Bas, Firdevs ; Altunoglu, Umut ; Toksoy, Güven ; Karaman, Birsen ; Avci, Sahin ; Yavas Abali, Zehra ; Poyrazoglu, Sukran ; Aghayev, Agharza ; Karaman, Volkan ; Bundak, Ruveyde ; Basaran, Seher ; Darendeliler, Feyza
Journal title:Journal of clinical research in pediatric endocrinology, 2022-02
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Showing 1 to 20 of 23 results

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

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Clinical exome sequencing in neuromuscular diseases: an experience from Turkey

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An 8-month-old infant with hypercalcemia and hyperphosphatemia: Questions

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An 8-month-old infant with hypercalcemia and hyperphosphatemia—Answers

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Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia

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PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

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A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations

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Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

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Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye

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Association between HBA locus copy number gains and pathogenic HBB gene variants

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

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Case Report and Current Literature Review of Adult Cerebrotendinous Xanthomatosis: Evaluation of Treatment Response Based on Gait Analysis Adult Cerebrotendinous Xanthomatosis

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Familial Focal Epilepsy with Variable Foci: A Novel DEPDC5 Gene Mutation

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PRENATAL DIAGNOSIS OF ISOLATED SPLIT HAND/FOOT MALFORMATION: A CASE REPORT

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Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

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Clinical and Molecular Findings of Nine Cases with TaySachs Disease From Turkiye/Tay-Sachs Hastaligi Olan Turkiye'den Dokuz Olgunun Klinik ve Molekuler Bulgulari

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JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE/TURKIYE'DE ALAGILLE SENDROMLU OLGULARDA JAG1 MUTASYON SPREKTRUMU

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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children With 46,XY DSD

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