Umut Altunoglu (Umut Altunoğlu)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 9

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

Clinical genetics

Journal of clinical research in pediatric endocrinology

This page only lists publications with an associated author ORCID identifier.

Publications

Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Biruté Burnyté, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tüysüz, Victor Ruiz-Pérez
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis. Journal of medical genetics 61 (7) (2024)
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Biruté Burnyté, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tüysüz, Victor Ruiz-Pérez
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis. Journal of medical genetics (2024)
Esin Karakılıc Ozturan, Umut Altunoglu, Ayse Pinar Ozturk, Asli Derya Kardelen Al, Zehra Yavaş Abalı, Sahin Avci, Bernd Wollnik, Şükran Poyrazoğlu, Firdevs Baş, Zehra Oya Uyguner, Hülya Kayserili, Feyza Darendelıler
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome. American journal of medical genetics. Part A 188 (7) (2022)
Tuğba Kalaycı, Umut Altunoglu, Aytul Çorbacioglu Esmer, Sahin Avci, Tugba Sarac Sivrikoz, Birsen Karaman, İbrahim Kalelioğlu, Recep Has, Zehra Oya Uyguner, Atıl Yüksel, Seher Başaran, Hülya Kayserili
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey. American journal of medical genetics. Part A (2022)
Gozde Tutku Turgut, Umut Altunoglu, Tugba Sarac Sivrikoz, Guven Toksoy, Tuğba Kalaycı, Şahin Avcı, Birsen Karaman, Cagri Gulec, Seher Başaran, Gözde Yeşil Sayın, Hülya Kayserili, Zehra Oya Uyguner
Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype. Clinical genetics 101 (4) (2022)
Neşe Akcan, Zehra Oya Uyguner, Firdevs Baş, Umut Altunoglu, Güven Toksoy, Birsen Karaman, Sahin Avci, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendelıler
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD Journal of clinical research in pediatric endocrinology 14 (2) (2022)
Umut Altunoglu, Esra Börklü, Anju Shukla, Nathalie Escande-Beillard, Susanne Ledig, Hülya Azaklı, Shalini S Nayak, Serpil Eraslan, Katta Mohan Girisha, Ingo Kennerknecht, Hülya Kayserili
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. Clinical genetics (2021)
Gozde Tutku Turgut, Çağrı Güleç, Tugba Sarac Sivrikoz, Hamdi Kale, Birsen Karaman, Gen Nishimura, Umut Altunoglu
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia. American journal of medical genetics. Part A (2021)
Ezgi Gizem Berkay, Leyla Elkanova, Tuğba Kalaycı, Dilek Uludağ Alkaya, Umut Altunoglu, Kıvanç Cefle, Ercan Mıhçı, Banu Nur, Elifcan Taşdelen, Zuhal Bayramoğlu, Volkan Karaman, Güven Toksoy, Nilay Güneş, Şükrü Öztürk, Şükrü Palandüz, Hülya Kayserili, Beyhan Tüysüz, Zehra Oya Uyguner
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey. American journal of medical genetics. Part A 185 (8) (2021)