Ausgabe 1/2004
Inhalt (30 Artikel)
A case of familial isolated hemihyperplasia
Heidi A Heilstedt, Carlos A Bacino
Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)
Wanna Thongnoppakhun, Chanin Limwongse, Kriengsak Vareesangthip, Chintana Sirinavin, Duangkamon Bunditworapoom, Nanyawan Rungroj, Pa-thai Yenchitsomanus
A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (<35 repeats) are rare in centenarians
Sabrina Garasto, Maurizio Berardelli, Francesco DeRango, Vincenzo Mari, Emidio Feraco, Giovanna De Benedictis
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
Myrna Medlej-Hashim, Valérie Delague, Eliane Chouery, Nabiha Salem, Mohammed Rawashdeh, Gérard Lefranc, Jacques Loiselet, André Mégarbané
Molecular epidemiology of DFNB1 deafness in France
Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Geneviève Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain, Mireille Claustres
NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant
Nichola Johnson, Peter Bell, Vesna Jonovska, Marc Budge, Edith Sim
Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease
Larissa Arning, Peter Jagiello, Stefan Wieczorek, Carsten Saft, Jürgen Andrich, Jörg T Epplen
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
Maria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, Silvia Russo, Anna Maria Nardone, Vincenzina Lucidi, Federica Sangiuolo, Giuseppe Novelli
PAX6 gene variations associated with aniridia in south India
Guruswamy Neethirajan, Subbaiah Ramasamy Krishnadas, Perumalsamy Vijayalakshmi, Shetty Shashikant, Periasamy Sundaresan
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R
Subhadra Ramanathan, Abigail Woodroffe, Pamela L Flodman, Lee Z Mays, Mona Hanouni, Charlotte B Modahl, Robin Steinberg-Epstein, Maureen E Bocian, M Anne Spence, Moyra Smith
Erratum to: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients
Dominique P Germain, Paul Avan, Augustin Chassaing, Pierre Bonfils
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1as autism candidate genes
Holli B Hutcheson, Lana M Olson, Yuki Bradford, Susan E Folstein, Susan L Santangelo, James S Sutcliffe, Jonathan L Haines
Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes
Connie E Byrne, Anthony Fitzgerald, Christopher P Cannon, Desmond J Fitzgerald, Denis C Shields
TP73allelic expression in human brain and allele frequencies in Alzheimer's disease
Quanyi Li, Eleni S Athan, Michelle Wei, Eric Yuan, Samuel L Rice, Jean-Paul Vonsattel, Richard P Mayeux, Benjamin Tycko
Analysis of polymorphic TGFB1codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults
Christian Stoll, Senait Mengsteab, Doris Stoll, Dieter Riediger, Axel M Gressner, Ralf Weiskirchen
HNPCC: Six new pathogenic mutations
Erdmute Kunstmann, Judith Vieland, Frank E Brasch, Stephan A Hahn, Joerg T Epplen, Karsten Schulmann, Wolff Schmiegel
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment
Douglas B Gould, Mohamad S Jaafar, Mark K Addison, Francis Munier, Robert Ritch, Ian M MacDonald, Michael A Walter
The impact of population heterogeneity on risk estimation in genetic counseling
Wenlei Liu, Nikolina Icitovic, Michele L Shaffer, Gary A Chase
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, Carine Templin, Françoise Chevalier-Porst, Marie Des Georges
Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia
Grace Ibay, Betty Doan, Lauren Reider, Debra Dana, Melissa Schlifka, Heping Hu, Taura Holmes, Jennifer O'Neill, Robert Owens, Elise Ciner, Joan E Bailey–Wilson, Dwight Stambolian
A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
Ben S Pickard, Edward J Hollox, M Pat Malloy, David J Porteous, Douglas HR Blackwood, John AL Armour, Walter J Muir
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz, Daniel Christophe
What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors? – Protocol of a systematic review
M Scharplatz, MA Puhan, J Steurer, LM Bachmann
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Shotland, Elizabeth Ives, Sheikh Riazuddin, Thomas B Friedman, Robert J Morell, Edward R Wilcox
HLA haplotypes associated with hemochromatosis mutations in the Spanish population
Arantza Pacho, Esther Mancebo, Manuel J del Rey, Maria J Castro, Desamparados Oliver, Miguel García-Berciano, Luis González, Pablo Morales
CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
Carol J Blaisdell, Timothy D Howard, Augustus Stern, Penelope Bamford, Eugene R Bleecker, O Colin Stine
Neural network analysis in pharmacogenetics of mood disorders
Alessandro Serretti, Enrico Smeraldi
Men's values-based factors on prostate cancer risk genetic testing: A telephone survey
David J Doukas, Yuelin Li
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population
James C Barton, Charles A Rivers, Sandrine Niyongere, Sean B Bohannon, Ronald T Acton
Catechol-O-Methyltransferase (COMT) Val 108/158 Metpolymorphism does not modulate executive function in children with ADHD
Evan Taerk, Natalie Grizenko, Leila Ben Amor, Philippe Lageix, Valentin Mbekou, Rosherie Deguzman, Adam Torkaman-Zehi, Marina Ter Stepanian, Chantal Baron, Ridha Joober