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Linkage analysis

Linkage Analysis in Autoimmune Addison’s Disease: NFATC1 as a Potential Novel Susceptibility Locus

Anna L. Mitchell, Anette Bøe Wolff, Katie MacArthur, Jolanta U. Weaver, Bijay Vaidya, Sophie Bensing on behalf of The Swedish Addison Registry Study Group , Martina M. Erichsen, Rebecca Darlay, Eystein S. Husebye, Heather J. Cordell, Simon H. S. Pearce

published 04 Jun 2015

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Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases

Julia Moosmann, Steffen Uebe, Sven Dittrich, André Rüffer, Arif B. Ekici, Okan Toka

published 18 May 2015

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Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds

Dina F. Ahram, Sinisa D. Grozdanic, Helga Kecova, Arjen Henkes, Rob W. J. Collin, Markus H. Kuehn

published 04 May 2015

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Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm

Janice L. Farlow, Hai Lin, Laura Sauerbeck, Dongbing Lai, Daniel L. Koller, Elizabeth Pugh, Kurt Hetrick, Hua Ling, Rachel Kleinloog, Pieter van der Vlies, Patrick Deelen, Morris A. Swertz, Bon H. Verweij, Luca Regli, Gabriel J. E. Rinkel, Ynte M. Ruigrok, Kimberly Doheny, Yunlong Liu, Joseph Broderick, Tatiana Foroud, FIA Study Investigators

published 24 Mar 2015

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Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

Vanisha Mistry, Nicholas A. Bockett, Adam P. Levine, Muddassar M. Mirza, Karen A. Hunt, Paul J. Ciclitira, Holger Hummerich, Susan L. Neuhausen, Michael A. Simpson, Vincent Plagnol, David A. van Heel

published 30 Jan 2015

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Genome-Wide Linkage Scan Identifies Two Novel Genetic Loci for Coronary Artery Disease: In GeneQuest Families

Hanxiang Gao, Lin Li, Shaoqi Rao, Gongqing Shen, Quansheng Xi, Shenghan Chen, Zheng Zhang, Kai Wang, Stephen G. Ellis, Qiuyun Chen, Eric J. Topol, Qing K. Wang

published 08 Dec 2014

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Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Alireza Haghighi, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, Wolfgang Berger

published 13 Nov 2014

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Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Mingfei Chen, Yi Li, Hong Liu, Xi'an Fu, Yiongxiang Yu, Gongqi Yu, Chuan Wang, Fangfang Bao, Herty Liany, Zhenzhen Wang, Zhongxiang Shi, Dizhan Zhang, Guizhi Zhou, Jianjun Liu, Furen Zhang

published 26 Aug 2014

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Possible Association between Dysfunction of Vitamin D Binding Protein (GC Globulin) and Migraine Attacks

Eiichiro Nagata, Natsuko Fujii, Kazuyoshi Hosomichi, Shigeki Mitsunaga, Yoichi Suzuki, Yoichi Mashimo, Hideo Tsukamoto, Tadayuki Satoh, Motoki Osawa, Ituro Inoue, Akira Hata, Shunya Takizawa

published 22 Aug 2014

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Combined Linkage and Association Studies Show that HLA Class II Variants Control Levels of Antibodies against Epstein-Barr Virus Antigens

Vincent Pedergnana, Laurène Syx, Aurélie Cobat, Julien Guergnon, Pauline Brice, Christophe Fermé, Patrice Carde, Olivier Hermine, Catherine Le- Pendeven, Corinne Amiel, Yassine Taoufik, Alexandre Alcaïs, Ioannis Theodorou, Caroline Besson, Laurent Abel

published 15 Jul 2014

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Genome-Wide Linkage Study Suggests a Susceptibility Locus for Isolated Bilateral Microtia on 4p15.32–4p16.2

Xin Li, Jintian Hu, Jiao Zhang, Qian Jin, Duen-Mei Wang, Jun Yu, Qingguo Zhang, Yong-Biao Zhang

published 01 Jul 2014

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Mutation in KERA Identified by Linkage Analysis and Targeted Resequencing in a Pedigree with Premature Atherosclerosis

Stephanie Maiwald, Suthesh Sivapalaratnam, Mahdi M. Motazacker, Julian C. van Capelleveen, Ilze Bot, Saskia C. de Jager, Miranda van Eck, Jennifer Jolley, Johan Kuiper, Jonathon Stephens, Cornelius A. Albers, C. Ruben Vosmeer, Heleen Kruize, Daan P. Geerke, Allard C. van der Wal, Chris M. van der Loos, John J. P. Kastelein, Mieke D. Trip, Willem H. Ouwehand, Geesje M. Dallinga-Thie, G. Kees Hovingh

published 30 May 2014

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Identification of Duplication Downstream of BMP2 in a Chinese Family with Brachydactyly Type A2 (BDA2)

Xudong Liu, Linghan Gao, Aman Zhao, Rui Zhang, Baohu Ji, Lei Wang, Yonglan Zheng, Bingfang Zeng, Robert K. Valenzuela, Lin He, Jie Ma

published 07 Apr 2014

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