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Yasemin Alanay
Researcher at Acıbadem University
Publications - 164
Citations - 5499
Yasemin Alanay is an academic researcher from Acıbadem University. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 39, co-authored 149 publications receiving 4623 citations. Previous affiliations of Yasemin Alanay include Hacettepe University & University of California, Los Angeles.
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Journal ArticleDOI
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
Yasemin Alanay,Hrispima Avaygan,Natalia Camacho,G. Eda Utine,Koray Boduroğlu,Dilek Aktas,Mehmet Alikasifoglu,Ergul Tuncbilek,Diclehan Orhan,Filiz Bakar,Bernard Zabel,Andrea Superti-Furga,Leena Bruckner-Tuderman,Cindy J.R. Curry,Shawna M. Pyott,Peter H. Byers,David R. Eyre,Dustin Baldridge,Brendan Lee,Amy E. Merrill,Elaine C. Davis,Daniel H. Cohn,Daniel H. Cohn,Nurten A. Akarsu,Deborah Krakow +24 more
TL;DR: A cohort of five consanguineous Turkish families with moderately severe recessively inherited OI was studied and a novel locus for OI on chromosome 17 was identified and it was determined that FKBP10 mutations affect type I procollagen secretion.
Journal ArticleDOI
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux,Sophie Thomas,Karlien L.M. Coene,Erica E. Davis,Yasemin Alanay,Gönöl Ogur,Elif Uz,Daniela Buzas,Céline Gomes,Sophie Patrier,Christopher L. Bennett,Nadia Elkhartoufi,Marie Hélène Saint Frison,Luc Rigonnot,N. Joye,Solenn Pruvost,Gülen Eda Utine,Koray Boduroğlu,Patrick Nitschke,L. Fertitta,Christel Thauvin-Robinet,Arnold Munnich,Valérie Cormier-Daire,Raoul C.M. Hennekam,Estelle Colin,Nurten A. Akarsu,Christine Bole-Feysot,Nicolas Cagnard,Alain Schmitt,Nicolas Goudin,Stanislas Lyonnet,Férechté Encha-Razavi,Jean Pierre Siffroi,Mark Winey,Nicholas Katsanis,Marie Gonzales,Michel Vekemans,Philip L. Beales,Tania Attié-Bitach +38 more
TL;DR: In this article, the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.
Journal ArticleDOI
The evolution of sagittal segmental alignment of the spine during childhood.
Akin Cil,Muharrem Yazici,Akın Üzümcügil,Utku Kandemir,Ahmet Alanay,Yasemin Alanay,Rifat Emre Acaroğlu,Adil Surat +7 more
TL;DR: Sagittal spinal alignment is found to be changing as a child grows, and there is a statistically significant difference among different age groups, especially at cervicothoracic, thoracolumbar, and lumbosacral junc-tions.
Journal ArticleDOI
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Carine Le Goff,Clémentine Mahaut,Lauren W. Wang,Slimane Allali,Avinash Abhyankar,Sacha A. Jensen,Louise Zylberberg,Gwenaëlle Collod-Béroud,Gwenaëlle Collod-Béroud,Damien Bonnet,Yasemin Alanay,Angela F. Brady,Marie-Pierre Cordier,Koenraad Devriendt,David Geneviève,Pelin Özlem Şimşek Kiper,Hiroshi Kitoh,Deborah Krakow,Sally Ann Lynch,Martine Le Merrer,André Mégarbané,Geert Mortier,Sylvie Odent,Michel Polak,Marianne Rohrbach,David Sillence,Irene Stolte-Dijkstra,Andrea Superti-Furga,David L. Rimoin,Vicken Topouchian,Sheila Unger,Bernhard Zabel,Christine Bole-Feysot,Patrick Nitschke,Penny A. Handford,Jean-Laurent Casanova,Jean-Laurent Casanova,Catherine Boileau,Suneel S. Apte,Arnold Munnich,Valérie Cormier-Daire +40 more
TL;DR: Findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes, and suggest enhanced TGFβ signaling caused by FBN 1 mutations can trigger either Marfan syndrome or GD and AD.
Journal ArticleDOI
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Dagmar Wieczorek,Nina Bögershausen,Filippo Beleggia,Sabine Steiner-Haldenstätt,Esther Pohl,Yun Li,Esther Milz,Marcel Martin,Holger Thiele,Janine Altmüller,Yasemin Alanay,Yasemin Alanay,Hülya Kayserili,Ludger Klein-Hitpass,Stefan Böhringer,Andreas Wollstein,Beate Albrecht,Koray Boduroğlu,Almuth Caliebe,Krystyna H. Chrzanowska,Ozgur Cogulu,Francesca Cristofoli,Johanna Christina Czeschik,Koenraad Devriendt,Maria Teresa Dotti,Nursel Elcioglu,Blanca Gener,Timm O. Goecke,Małgorzata Krajewska-Walasek,Encarnación Guillén-Navarro,Joussef Hayek,Gunnar Houge,Esra Kılıç,Pelin Ozlem Simsek-Kiper,Vanesa López-González,Alma Kuechler,Stanislas Lyonnet,Francesca Mari,Annabella Marozza,Michèle Mathieu Dramard,Barbara Mikat,Gilles Morin,Fanny Morice-Picard,Ferda Ozkinay,Anita Rauch,Alessandra Renieri,Sigrid Tinschert,G. Eda Utine,Catheline Vilain,R. Vivarelli,Christiane Zweier,Peter Nürnberg,Sven Rahmann,Joris Vermeesch,Hermann-Josef Lüdecke,Michael Zeschnigk,Bernd Wollnik +56 more
TL;DR: It is shown that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations, and proposed genotype-phenotype correlations are important for molecular screening strategies.