Ausgabe 1/2007
Inhalt (82 Artikel)
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
María E Sáez, María T Martínez-Larrad, Reposo Ramírez-Lorca, José L González-Sánchez, Carina Zabena, María J Martinez-Calatrava, Alejandro González, Francisco J Morón, Agustín Ruiz, Manuel Serrano-Ríos
Transient trimethylaminuria related to menstruation
Makiko Shimizu, John R Cashman, Hiroshi Yamazaki
CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden
Sofia Mayans, Kurt Lackovic, Caroline Nyholm, Petter Lindgren, Karin Ruikka, Mats Eliasson, Corrado M Cilio, Dan Holmberg
Functional analysis of splicing mutations in exon 7 of NF1gene
Irene Bottillo, Alessandro De Luca, Annalisa Schirinzi, Valentina Guida, Isabella Torrente, Stefano Calvieri, Cristina Gervasini, Lidia Larizza, Antonio Pizzuti, Bruno Dallapiccola
Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy
Amy Jayne McKnight, David A Savage, Chris C Patterson, Denise Sadlier, A Peter Maxwell
Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1–12 dosage
Maria I Shadrina, Elena V Semenova, Petr A Slominsky, Gulbahar H Bagyeva, Sergei N Illarioshkin, Irina I Ivanova-Smolenskaia, Svetlana A Limborska
SOD2polymorphisms: unmasking the effect of polymorphism on splicing
Jing Shao, Lishan Chen, Brian Marrs, Lin Lee, Hai Huang, Kenneth G Manton, George M Martin, Junko Oshima
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
Monica Rossi, Enzo Ricci, Luca Colantoni, Giuliana Galluzzi, Roberto Frusciante, Pietro A Tonali, Luciano Felicetti
Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre
Joo Wook Ahn, Caroline Mackie Ogilvie, Alysia Welch, Helen Thomas, Rajiv Madula, Alison Hills, Celia Donaghue, Kathy Mann
Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma
Javier Cotignola, Boris Reva, Nandita Mitra, Nicole Ishill, Shaokun Chuai, Ami Patel, Shivang Shah, Gretchen Vanderbeek, Daniel Coit, Klaus Busam, Allan Halpern, Alan Houghton, Chris Sander, Marianne Berwick, Irene Orlow
Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1
Roberto Sacco, Veruska Papaleo, Jorg Hager, Francis Rousseau, Rainald Moessner, Roberto Militerni, Carmela Bravaccio, Simona Trillo, Cindy Schneider, Raun Melmed, Maurizio Elia, Paolo Curatolo, Barbara Manzi, Tiziana Pascucci, Stefano Puglisi-Allegra, Karl-Ludvig Reichelt, Antonio M Persico
Association between CFL1gene polymorphisms and spina bifida risk in a California population
Huiping Zhu, James O Ebot Enaw, Chen Ma, Gary M Shaw, Edward J Lammer, Richard H Finnell
Incorporating medical interventions into carrier probability estimation for genetic counseling
Hormuzd A Katki
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
Laura Torres-Juan, Jordi Rosell, Manuel Sánchez-de-la-Torre, Joan Fibla, Damià Heine-Suñer
Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes
Melinda M Pettigrew, Janneane F Gent, Yong Zhu, Elizabeth W Triche, Kathleen D Belanger, Theodore R Holford, Michael B Bracken, Brian P Leaderer
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects
Jitka Stekrova, Martina Sulova, Vera Kebrdlova, Katerina Zidkova, Jaroslav Kotlas, Denisa Ilencikova, Kamila Vesela, Milada Kohoutova
Genetic mapping of a new heart rate QTL on chromosome 8 of spontaneously hypertensive rats
Gustavo JJ Silva, Alexandre C Pereira, Eduardo M Krieger, José E Krieger
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report
Maria Giuseppina Miano, Carmela Laperuta, Pietro Chiurazzi, Michele D'Urso, Matilde Valeria Ursini
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy
Atsushi Nishiyama, Yasuhiro Takeshima, Kayoko Saiki, Akiko Narukage, Yoshinobu Oyazato, Mariko Yagi, Masafumi Matsuo
Association of TGFβ1, TNFα, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians
Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta, BK Thelma
Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3gene in extremely obese children and adolescents
Katja Hölter, Anne-Kathrin Wermter, André Scherag, Wolfgang Siegfried, Hanspeter Goldschmidt, Johannes Hebebrand, Anke Hinney
Large genomic rearrangements in the CFTRgene contribute to CBAVD
Magali Taulan, Anne Girardet, Caroline Guittard, Jean-Pierre Altieri, Carine Templin, Christophe Beroud, Marie des Georges, Mireille Claustres
Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis
Alice Brockington, Beatrijs Wokke, Hannah Nixon, Judith Hartley, Pamela J Shaw
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
Randy J Chandler, Matthew S Tsai, Kenneth Dorko, Jennifer Sloan, Mark Korson, Richard Freeman, Stephen Strom, Charles P Venditti
MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions
Carmela Laperuta, Letizia Spizzichino, Pio D'Adamo, Jlenia Monfregola, Antonio Maiorino, Angela D'Eustacchio, Valerio Ventruto, Giovanni Neri, Michele D'Urso, Pietro Chiurazzi, Matilde Valeria Ursini, Maria Giuseppina Miano
A novel mutation in the WFS1gene identified in a Taiwanese family with low-frequency hearing impairment
Hsun-Tien Tsai, Ying-Piao Wang, Shing-Fang Chung, Hung-Ching Lin, Guan-Min Ho, Min-Tsan Shu
Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age
Erica Franco, Luigi Palumbo, Francesca Crobu, Matteo Anselmino, Simone Frea, Giuseppe Matullo, Alberto Piazza, Gian Paolo Trevi, Serena Bergerone
Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma
Suhal S Mahid, Daniel W Colliver, Nigel PS Crawford, Benjamin D Martini, Mark A Doll, David W Hein, Gary A Cobbs, Robert E Petras, Susan Galandiuk
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
Cristian Pattaro, Fabio Marroni, Alice Riegler, Deborah Mascalzoni, Irene Pichler, Claudia B Volpato, Umberta Dal Cero, Alessandro De Grandi, Clemens Egger, Agatha Eisendle, Christian Fuchsberger, Martin Gögele, Sara Pedrotti, Gerd K Pinggera, Stefan A Stefanov, Florian D Vogl, Christian J Wiedermann, Thomas Meitinger, Peter P Pramstaller
The effect of ABCA1gene polymorphisms on ischaemic stroke risk and relationship with lipid profile
Alireza Pasdar, Ghasem Yadegarfar, Alastair Cumming, Lawrence Whalley, David St Clair, Mary-Joan MacLeod
PediDraw: A web-based tool for drawing a pedigree in genetic counseling
Min He, Wei Li
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
Petra Vasickova, Eva Machackova, Miroslava Lukesova, Jiri Damborsky, Ondrej Horky, Hana Pavlu, Jitka Kuklova, Veronika Kosinova, Marie Navratilova, Lenka Foretova
Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis
Ewald Lindner, Gry BN Nordang, Espen Melum, Berit Flatø, Anne Marit Selvaag, Erik Thorsby, Tore K Kvien, Øystein T Førre, Benedicte A Lie
The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population – the HUNT study
Knut Hagen, Lars J Stovner, Frank Skorpen, Elin Pettersen, John-Anker Zwart
The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease
Khaled K Abu-Amero, Futwan Al-Mohanna, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
ChaRandle Jordan, Hong Hua Li, Helen C Kwan, Uta Francke
TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population
Stéphane Cauchi, David Meyre, Hélène Choquet, Samia Deghmoun, Emmanuelle Durand, Stefan Gaget, Cécile Lecoeur, Philippe Froguel, Claire Levy-Marchal
Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
Stella Marie Reamon-Buettner, Si-Hyen Cho, Juergen Borlak
Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in Argentina
Laura C Gomez, Sebastián M Real, Marta S Ojeda, Sergio Gimenez, Luis S Mayorga, María Roqué
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families
Sandra Filippini, Ana Blanco, Ana Fernández-Marmiesse, Vanesa Álvarez-Iglesias, Clara Ruíz-Ponte, Ángel Carracedo, Ana Vega
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib
Lilia L Bi, George Pan, T Prescott Atkinson, Lixin Zheng, Janet K Dale, Christopher Makris, Vishnu Reddy, Jay M McDonald, Richard M Siegel, Jennifer M Puck, Michael J Lenardo, Stephen E Straus
Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations
Maartje Nielsen, Frederik J Hes, Hans FA Vasen, Wilbert B van den Hout
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
Annemieke Aartsma-Rus, Anneke AM Janson, Gert-Jan B van Ommen, Judith CT van Deutekom
Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity
Nabila Bouatia-Naji, Vincent Vatin, Cécile Lecoeur, Barbara Heude, Christine Proença, Jacques Veslot, Béatrice Jouret, Jean Tichet, Guillaume Charpentier, Michel Marre, Beverley Balkau, Philippe Froguel, David Meyre
Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations
Yin Ruixing, Chen Guangqin, Wang Yong, Lin Weixiong, Yang Dezhai, Pan Shangling
Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene
Richard G Del Mastro, Laura Turenne, Heidi Giese, Tim P Keith, Paul Van Eerdewegh, Klaus JW May, Randall D Little
Resequencing PNMTin European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1
Katrin Kepp, Peeter Juhanson, Viktor Kozich, Mai Ots, Margus Viigimaa, Maris Laan
Absence of mutations in NR2E1 and SNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes
Ravinesh A Kumar, David B Everman, Chad T Morgan, Anne Slavotinek, Charles E Schwartz, Elizabeth M Simpson
Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes
Ritesh Kaushal, Daniel Woo, Prodipto Pal, Mary Haverbusch, Huifeng Xi, Charles Moomaw, Padmini Sekar, Brett Kissela, Dawn Kleindorfer, Matthew Flaherty, Laura Sauerbeck, Ranajit Chakraborty, Joseph Broderick, Ranjan Deka
Lack of increases in methylation at three CpG-rich genomic loci in non-mitotic adult tissues during aging
Michelle W Chu, Kimberly D Siegmund, Carrie L Eckstam, Jung Yeon Kim, Allen S Yang, Gary C Kanel, Simon Tavaré, Darryl Shibata
The TCF7L2locus and type 1 diabetes
Hui-Qi Qu, Constantin Polychronakos
A novel DSPPmutation is associated with type II dentinogenesis Imperfecta in a chinese family
Xianqin Zhang, Lanying Chen, Jingyu Liu, Zhen Zhao, Erjun Qu, Xiaotao Wang, Wei Chang, Chengqi Xu, Qing K Wang, Mugen Liu
Analysis of KLFtranscription factor family gene variants in type 2 diabetes
Ruth Gutiérrez-Aguilar, Yamina Benmezroua, Emmanuel Vaillant, Beverley Balkau, Michel Marre, Guillaume Charpentier, Rob Sladek, Philippe Froguel, Bernadette Neve
Susceptibility to type 1 diabetes conferred by the PTPN22C1858T polymorphism in the Spanish population
Jose Luis Santiago, Alfonso Martínez, Hermenegildo de la Calle, Miguel Fernández-Arquero, M Ángeles Figueredo, Emilio G de la Concha, Elena Urcelay
PPARα L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males
Julieta Uthurralt, Heather Gordish-Dressman, Meg Bradbury, Carolina Tesi-Rocha, Joseph Devaney, Brennan Harmon, Erica K Reeves, Cinzia Brandoli, Barbara C Hansen, Richard L Seip, Paul D Thompson, Thomas B Price, Theodore J Angelopoulos, Priscilla M Clarkson, Niall M Moyna, Linda S Pescatello, Paul S Visich, Robert F Zoeller, Paul M Gordon, Eric P Hoffman
The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III Hyperlipidemia
David Evans, Frank U Beil
Association analysis of chromosome 1 migraine candidate genes
Francesca Fernandez, Robert P Curtain, Natalie J Colson, Micky Ovcaric, John MacMillan, Lyn R Griffiths
Previously described sequence variant in CDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly
Muhammad Jawad Hassan, Maryam Khurshid, Zahid Azeem, Peter John, Ghazanfar Ali, Muhammad Salman Chishti, Wasim Ahmad
Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease
Ugo Cavallari, Elisabetta Trabetti, Giovanni Malerba, Michele Biscuola, Domenico Girelli, Oliviero Olivieri, Nicola Martinelli, Dominick J Angiolillo, Roberto Corrocher, Pier Franco Pignatti
The Fangshan/Family-based Ischemic Stroke Study In China (FISSIC) protocol
Xun Tang, Yonghua Hu, Dafang Chen, Siyan Zhan, Zongxin Zhang, Huidong Dou
Interactions between the adducin 2gene and antihypertensive drug therapies in determining blood pressure in people with hypertension
Sharon LR Kardia, Yan V Sun, Sara C Hamon, Ruth Ann Barkley, Eric Boerwinkle, Stephen T Turner
Genetic variants of Complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population
Weihua Meng, Anne Hughes, Chris C Patterson, Christine Belton, Muhammad S Kamaruddin, Paul G Horan, Frank Kee, Pascal P McKeown
The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology?
Cashell E Jaquish
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
Randy J Chandler, Jennifer Sloan, Hong Fu, Matthew Tsai, Sally Stabler, Robert Allen, Klaus H Kaestner, Haig H Kazazian, Charles P Venditti
Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
Giorgia Beffagna, Marzia De Bortoli, Andrea Nava, Michela Salamon, Alessandra Lorenzon, Manuela Zaccolo, Luisa Mancuso, Luca Sigalotti, Barbara Bauce, Gianluca Occhi, Cristina Basso, Gerolamo Lanfranchi, Jeffrey A Towbin, Gaetano Thiene, Gian Antonio Danieli, Alessandra Rampazzo
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study
Florencia M Gosso, Eco JC de Geus, Tinca JC Polderman, Dorret I Boomsma, Danielle Posthuma, Peter Heutink
CADASIL in Arabs: clinical and genetic findings
Saeed Bohlega, Asmahan Al Shubili, Abdulrahman Edris, Abdulrahman Alreshaid, Thamer AlKhairallah, M Walid AlSous, Samir Farah, Khaled K Abu-Amero
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Joseph D Buxbaum, Guiqing Cai, Gudrun Nygren, Pauline Chaste, Richard Delorme, Juliet Goldsmith, Maria Råstam, Jeremy M Silverman, Eric Hollander, Christopher Gillberg, Marion Leboyer, Catalina Betancur
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay
Marko Cukjati, Tomaž Vaupotič, Ruth Rupreht, Vladka Čurin-Šerbec
Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype
Kyung-Seon Kim, Ghi-Su Kim, Joo-Yeon Hwang, Hye-Ja Lee, Mi-Hyun Park, Kwang-joong Kim, Jongsun Jung, Hyo-Soung Cha, Hyoung Doo Shin, Jong-Ho Kang, Eui Kyun Park, Tae-Ho Kim, Jung-Min Hong, Jung-Min Koh, Bermseok Oh, Kuchan Kimm, Shin-Yoon Kim, Jong-Young Lee
The candidate genes TAF5L, TCF7, PDCD1 , IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes
Jason D Cooper, Deborah J Smyth, Rebecca Bailey, Felicity Payne, Kate Downes, Lisa M Godfrey, Jennifer Masters, Lauren R Zeitels, Adrian Vella, Neil M Walker, John A Todd
A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the Multiethnic Cohort
Sulggi A Lee, Christopher A Haiman, Noel P Burtt, Loreall C Pooler, Iona Cheng, Laurence N Kolonel, Malcolm C Pike, David Altshuler, Joel N Hirschhorn, Brian E Henderson, Daniel O Stram
Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis – a cohort study
Maria Nilsson, Ingrid Dahlman, Hong Jiao, Jan-Åke Gustafsson, Peter Arner, Karin Dahlman-Wright
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis
Anne Philippi, Frédéric Tores, Jérome Carayol, Francis Rousseau, Mélanie Letexier, Elke Roschmann, Pierre Lindenbaum, Abdel Benajjou, Karine Fontaine, Céline Vazart, Philippe Gesnouin, Peter Brooks, Jörg Hager
CD209 in inflammatory bowel disease: a case-control study in the Spanish population
Concepción Núñez, Javier Oliver, Juan Luis Mendoza, María Gómez-García, Carlos Taxonera, Luis M Gómez, Miguel A López-Nevot, Emilio G de la Concha, Elena Urcelay, Alfonso Martínez, Javier Martín
The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans
RP Grewal, AVC Dutra, Yi C Liao, Ss H Juo, NIH Papamitsakis
No evidence for association between taugene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease
Pascual Sánchez-Juan, Matthew T Bishop, Alison Green, Claudia Giannattasio, Alejandro Arias-Vasquez, Anna Poleggi, Richard SG Knight, Cornelia M van Duijn
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
Sajid Malik, KM Girisha, Muhammad Wajid, Akhilesh K Roy, Shubha R Phadke, Sayedul Haque, Wasim Ahmad, Manuela C Koch, Karl-Heinz Grzeschik
Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol
Zari Dastani, Isabelle L Ruel, James C Engert, Jacques Genest Jr, Michel Marcil
Association between the -455T>C promoter polymorphism of the APOC3gene and the metabolic syndrome in a multi-ethnic sample
Rebecca L Pollex, Matthew R Ban, T Kue Young, Peter Bjerregaard, Sonia S Anand, Salim Yusuf, Bernard Zinman, Stewart B Harris, Anthony JG Hanley, Philip W Connelly, Murray W Huff, Robert A Hegele
MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
Ester Ballana, Josep Maria Mercader, Nathan Fischel-Ghodsian, Xavier Estivill
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
Shaohua Tang, Qiyu Xu, Xueqin Xu, Jicheng Du, Xuemei Yang, Yusheng Jiang, Xiaoqin Wang, Nancy Speck, Taosheng Huang