Hakutulokset

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies Tekijä Avigail Beryozkin, Elia Shevah, Adva Kimchi, Liliana Mizrahi‐Meissonnier, Samer Khateb, Rinki Ratnapriya, Csilla H. Lazar, Anat Blumenfeld, Tamar Ben‐Yosef, Yitzhak Hemo, Jacob Pe’er, Eduard Averbuch, Michal Sagi, Alexis Boleda, Linn Gieser, Abraham Zlotogorski, Tzipora C. Falik‐Zaccai, Ola Alimi-Kasem, Samuel G. Jacobson, Itay Chowers, Anand Swaroop, Eyal Banin, Dror Sharon

Hae kokoteksti Hae kokoteksti

Mutations in human IFT140 cause non-syndromic retinal degeneration Tekijä Mingchu Xu, Lizhu Yang, Feng Wang, Huajin Li, Xia Wang, Weichen Wang, Zhongqi Ge, Keqing Wang, Li Zhao, Hui Li, Yumei Li, Ruifang Sui, Rui Chen

Hae kokoteksti

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families Tekijä Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed M Kurdi, Zainab Babay, Dalal Bubshait, Niema Ibrahim, Firdous Abdulwahab, Zuhair Rahbeeni, Mais Hashem, Fowzan S. Alkuraya

Hae kokoteksti Hae kokoteksti

Whole-Exome sequencing identifies novel<i>LEPR</i>mutations in individuals with severe early onset obesity Tekijä Richard Gill, Yee Him Cheung, Yufeng Shen, Patricia Lanzano, Nazrat Mirza, Svetlana Ten, Noel K. Maclaren, Roja Motaghedi, Joan C. Han, Jack A. Yanovski, Rudolph L. Leibel, Wendy K. Chung

Hae kokoteksti Hae kokoteksti

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Tekijä Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burçak Özeş, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim Lawson, Davut Pehli̇van, Yuji Okamoto, Marjorie Withers, Pedro Mancías, Anne Slavotinek, Pamela J. Reitnauer, Meryem Tuba Goksungur, Michael E. Shy, Thomas O. Crawford, M. Kœnig, Jason R. Willer, Brittany Flores, Igor Pediaditrakis, Önder Us, Wojciech Wiszniewski, Yeşim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

Hae kokoteksti Hae kokoteksti

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement Tekijä Mohammed E. El‐Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan J. McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Alison J. Hardcastle, Michel Michaelides, Michael E. Cheetham, Gavin Arno, Niclas Thomas, Shomi S. Bhattacharya, Tony Moore, Andrea H. Németh, Susan M. Downes, Stefano Lise, Emma Lord

Hae kokoteksti

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects Tekijä Anne Slavotinek, Sarah Garcia, Gemma Chandratillake, Tanya Bardakjian, Ehsan Ullah, Di Wu, Kaoru Umeda, R. Lao, Paul Ling-Fung Tang, Eunice Wan, Lohith Madireddy, Svetlana Lyalina, Bryce A. Mendelsohn, Shannon Dugan, Jeanie Tirch, R. Tischler, Jason Harris, Michael J. Clark, Stephen A. Chervitz, A. Patwardhan, John West, Philip C. Ursell, Alejandra de Alba Campomanes, Adele Schneider, Pui‐Yan Kwok, Sergio E. Baranzini, R.O. Chen

Hae kokoteksti

The human gene damage index as a gene-level approach to prioritizing exome variants Tekijä Yuval Itan, Lei Shang, Bertrand Boisson, Étienne Patin, Alexandre Bolze, Marcela Moncada‐Vélez, Eric Scott, Michael J. Ciancanelli, Fabien G. Lafaille, Janet Markle, Rubén Martínez‐Barricarte, Sarah Jill de Jong, Xiao‐Fei Kong, Patrick Nitschké, Aziz Belkadi, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis, Peter D. Stenson, Joseph G. Gleeson, D.N. Cooper, Lluís Quintana‐Murci, Jean‐Michel Claverie, Shen‐Ying Zhang, Laurent Abel, Jean‐Laurent Casanova

Hae kokoteksti Hae kokoteksti

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia Tekijä Ranjith Ramasamy, Emre Bakırcıoğlu, Cenk Cengiz, Ender Karaca, Jason M. Scovell, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Yao Yu, Chad Huff, Richard A. Gibbs, James R. Lupski, Dolores J. Lamb

Hae kokoteksti Hae kokoteksti

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder Tekijä Alexander Lossos, Nimrod Elazar, Israela Lerer, Ora Schueler‐Furman, Yakov Fellig, Benjamin S. Glick, Bat-El Zimmerman, Haim Azulay, Shlomo Dotan, Sharon Goldberg, John M. Gomori, Penina Ponger, J. P. Newman, Hodaifah Marreed, Andreas Steck, Nicole Schaeren‐Wiemers, Nofar Mor, Michal Harel, Tamar Geiger, Yael Eshed‐Eisenbach, Vardiella Meiner, Elior Peles

Hae kokoteksti Hae kokoteksti

<i>WDR19</i> : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome Tekijä Razek Georges Coussa, Edgar A. Otto, Heon Yung Gee, P Arthurs, Haitao Ren, I. López, Vafa Keser, Qiushi Fu, Ricardo Faingold, Ayesha Khan, Jeremy Schwartzentruber, Jacek Majewski, Friedhelm Hildebrandt, Robert K. Koenekoop

Hae kokoteksti

Disease gene identification strategies for exome sequencing Tekijä Christian Gilissen, Alexander Hoischen, Han G. Brunner, Joris A. Veltman

Hae kokoteksti Hae kokoteksti

Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse Tekijä Robert C. Tryon, Stephen D. White, Danika L. Bannasch

Hae kokoteksti

Identification of a mutation in LARS as a novel cause of infantile hepatopathy Tekijä Jillian P. Casey, Paul McGettigan, Niamh Lynam‐Lennon, Michael McDermott, Regina Regan, Judith Conroy, Billy Bourke, Jacintha O' Sullivan, Ellen Crushell, Sally Ann Lynch, Sean Ennis

Hae kokoteksti

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss Tekijä Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, R.J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik

Hae kokoteksti Hae kokoteksti

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement Tekijä Sara J. Bowne, Marian M. Humphries, Lori S. Sullivan, Paul F. Kenna, Lawrence C. S. Tam, Anna Sophia Kiang, Matthew Campbell, George M. Weinstock, Daniel C. Koboldt, Li Ding, Robert S. Fulton, Erica Sodergren, Denis Allman, Sophia Millington‐Ward, Arpad Palfi, Alex McKee, Susan H. Blanton, Susan Slifer, Ioanna Konidari, G. Jane Farrar, Stephen P. Daiger, Peter Humphries

Hae kokoteksti Hae kokoteksti

A Homozygous Missense Mutation in the<i>IRBP</i>Gene (<i>RBP3</i>) Associated with Autosomal Recessive Retinitis Pigmentosa Tekijä Anneke I. den Hollander, Terri L. McGee, Carmela Ziviello, Sandro Banfi, Thaddeus P. Dryja, Federico Gonzalez‐Fernandez, Debashis Ghosh, Eliot L. Berson

Hae kokoteksti

Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26) Tekijä Miquel Tuson, Gemma Marfany, Roser Gonzàlez‐Duarte

Hae kokoteksti Hae kokoteksti

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy Tekijä Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet

Hae kokoteksti

A Bedouin Kindred with Infantile Nephronophthisis Demonstrates Linkage to Chromosome 9 by Homozygosity Mapping Tekijä Neena B. Haider, Rivka Carmi, Hana Shalev, Val C. Sheffield, Daniel Landau

Hae kokoteksti Hae kokoteksti