The occurrence of germline <it>BRCA1 </it>and <it>BRCA2 </it>sequence alterations in Slovenian population

by Hočevar Marko, De Grève Jacques, Teugels Erik, Žgajnar Janez, Krajc Mateja, Stegel Vida, Novaković Srdjan
Published 2011-01-01

Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controls

by Nygren Gudrun, Schuroff Franck, Jamain Stéphane, Chaste Pauline, Anckarsäter Henrik, Scheid Isabelle, Betancur Catalina, Delorme Richard, Herbrecht Evelyn, Dumaine Anne, Mouren Marie, Råstam Maria, Leboyer Marion, Gillberg Christopher, Bourgeron Thomas
Published 2010-07-01

Association of cytochrome P450 genetic polymorphisms with neoadjuvant chemotherapy efficacy in breast cancer patients

by Seredina Tatyana A, Goreva Olga B, Talaban Valeria O, Grishanova Alevtina, Lyakhovich Vyacheslav V
Published 2012-06-01

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

by Estivill Xavier, Gabau Elisabeth, García-Aragonés Manel, Heine Damià, Rosell Jordi, Armengol Lluís, Brunet Anna, Guitart Miriam
Published 2009-12-01

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors <it>in utero </it>samples

by Buysse Karen, Janssens Sandra, Chiaie Barbara, Swerts Katrien, Menten Björn, Philippé Jan, Speleman Frank
Published 2009-09-01

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

by Salvi Fabrizio, Yuryev Anton, Balboni Alessandra, Gualandi Francesca, Neri Marcella, Bovolenta Matteo, Ferlini Alessandra, Gemmati Donato, Liboni Alberto, Zamboni Paolo
Published 2010-04-01

Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study

by Kenney M Cristina, Hertzog Dieter, Chak Garrick, Atilano Shari R, Khatibi Nikan, Soe Kyaw, Nobe Andrew, Yang Elizabeth, Chwa Marilyn, Zhu Feilin, Memarzadeh Masood, King Jacqueline, Langberg Jonathan, Small Kent, Nesburn Anthony B, Boyer David S, Udar Nitin
Published 2013-01-01

Circulating leukocyte telomere length is highly heritable among families of Arab descent

by Al-Attas Omar S, Al-Daghri Nasser M, Alokail Majed S, Alkharfy Khalid M, Alfadda Assim A, McTernan Philip, Gibson Greg C, Sabico Shaun B, Chrousos George P
Published 2012-05-01

<it>CYP2C19 </it>and <it>ABCB1 </it>gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population

by Mill José G, Nicolau José C, Coelho George LLM, Nascimento Raimundo M, Santos Diogo BG, Soares Renata AG, Santos Paulo CJL, Krieger José E, Pereira Alexandre C
Published 2011-01-01

Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness

by Newton-Cheh Christopher, Benjamin Emelia J, Larson Martin G, Levy Daniel, Wang Thomas J, Hwang Shih-Jen, Vasan Ramachandran S, Mitchell Gary F
Published 2007-09-01

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

by Shan Li, Jianfei Zhang, Yixuan Cao, Yi You, Xiuli Zhao
Published 2019-12-01

Association analysis identifies <it>ZNF750 </it>regulatory variants in psoriasis

by Birnbaum Ramon Y, Hayashi Genki, Cohen Idan, Poon Annie, Chen Haoyan, Lam Ernest T, Kwok Pui-Yan, Birk Ohad S, Liao Wilson
Published 2011-12-01

Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

by Liu Xinmin, Cheng Rong, Verbitsky Miguel, Kisselev Sergey, Browne Andrew, Mejia-Sanatana Helen, Louis Elan D, Cote Lucien J, Andrews Howard, Waters Cheryl, Ford Blair, Frucht Steven, Fahn Stanley, Marder Karen, Clark Lorraine N, Lee Joseph H
Published 2011-08-01

Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping...

by Erickson Stephen W, MacLeod Stewart L, Hobbs Charlotte A
Published 2012-06-01

A wide spectrum of clinical and brain MRI findings in patients with <it>SLC19A3 </it>mutations

by Yamada Yasukazu, Ishihara Naoko, Kumagai Toshiyuki, Nakanishi Keiko, Suzuki Motomasa, Hara Kenju, Miura Kiyokuni, Yamada Kenichiro, Kuwano Ryozo, Tsuji Shoji, Wakamatsu Nobuaki
Published 2010-12-01

Association analysis of <it>PON2 </it>genetic variants with serum paraoxonase activity and systemic lupus erythematosus

by Manzi Susan, Ramsey-Goldman Rosalind, Rhew Elisa Y, Kao Amy H, Dressen Amy S, Demirci F Yesim, Dasgupta Sudeshna, Kammerer Candace M, Kamboh M Ilyas
Published 2011-01-01

Expanding the clinical spectrum associated with defects in <it>CNTNAP2 </it>and <it>NRXN1</it>

by Ullmann Reinhard, Tinschert Sigrid, Prott Eva, Nagl Sandra, Maystadt Isabelle, Kohlhase Jürgen, Klapecki Jakub, Hoyer Juliane, Horn Denise, Hackmann Karl, Engels Hartmut, Ekici Arif B, Bijlsma Emilia K, Bader Ingrid, Albrecht Beate, Gregor Anne, Wohlleber Eva, Woods Geoffrey, Reis André, Rauch Anita, Zweier Christiane
Published 2011-08-01

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene

by Warnich Louise, Kinnear Craig, Venter Mauritz, van der Merwe Lize, Keyser Rowena J, Carr Jonathan, Bardien Soraya
Published 2009-10-01

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

by Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo
Published 2017-08-01

Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controls

by Robson Mark, Satagopan Jaya, Huang Helen, Yossepowitch Orit, Johnson Steven, Gregersen Peter, Rapaport Beth, Kolachana Prema, Kirchhoff Tomas, Pierce Heather, Offit Kenneth, Scheuer Lauren, Nafa Khedoudja, Ellis Nathan
Published 2003-01-01