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Articles |
| A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome |
737 |
| Mayada Tassabehji,
Martin Carette,
Carrie Wilmot,
Dian Donnai,
Andrew P Read & Kay Metcalfe
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Abstract
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| FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy |
748 |
| Oliver Bartsch,
Annett Wagner,
Georg K Hinkel,
Petra Krebs,
Markus Stumm,
Bernhard Schmalenberger,
Sabine Böhm,
Sevim Balci & Frank Majewski
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Abstract
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| Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients |
757 |
| Hidetetsu Hirokawa,
Yoshiyuki Okano,
Minoru Asada,
Akie Fujimoto,
Itsujin Suyama & Gen Isshiki
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Abstract
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| Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA) |
765 |
| Serpil Eraslan,
Hülya Kayserili,
Memnune Yüksel Apak & Betül Kirdar
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| Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia |
771 |
| Lars Allan Larsen,
Judith SM Armstrong,
Karen Grønskov,
Helle Hjalgrim,
Karen Brøndum-Nielsen,
Lis Hasholt,
Bent Nørgaard-Pedersen & Jens Vuust
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Abstract
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| Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 |
778 |
| Maurizio Genuardi,
Stefania Carrara,
Marcello Anti,
Maurizio Ponz de Leòn & Alessandra Viel
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Abstract
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| Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden |
783 |
| Fredrik Enlund,
Lena Samuelsson,
Charlotta Enerbäck,
Annica Inerot,
Jan Wahlström,
Maria Yhr,
Åsa Torinsson,
John Riley,
Gunnar Swanbeck & Tommy Martinsson
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Abstract
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| Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions |
791 |
| Edward J Hollox,
Mark Poulter,
Yangxi Wang,
Amanda Krause & Dallas M Swallow
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Abstract
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| Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample |
801 |
| Cornelia M van Duijn,
Marc Cruts,
Jessie Theuns,
Geert Van Gassen,
Hubert Backhovens,
Marleen van den Broeck,
Anita Wehnert,
Sally Serneels,
Albert Hofman & Christine Van Broeckhoven
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Abstract
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| Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity |
807 |
| Sam Martin,
Allan J Richards,
John RW Yates,
John D Scott,
Michael Pope & Martin P Snead
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Abstract
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| The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2 |
815 |
| Emma Roberts,
Andrew P Jackson,
Abigail C Carradice,
V Jayne Deeble,
Jovaria Mannan,
Yasmin Rashid,
Hussain Jafri,
Duncan P McHale,
Alex F Markham,
Nicholas J Lench & C Geoffrey Woods
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Abstract
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| Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity |
821 |
| Sandra D O'Dell,
Sarah R Bujac,
George J Miller & Ian NM Day
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Abstract
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Short Reports |
| Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity |
828 |
| Wasim Ahmad,
Maurizio De Fusco,
Muhammad Faiyaz ul Haque,
Paolo Aridon,
Tiziana Sarno,
Muhammad Sohail,
Sayed ul Haque,
Mahmud Ahmad,
Andrea Ballabio,
Brunella Franco & Giorgio Casari
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Abstract
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| BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer |
833 |
| Ruth Gershoni-Baruch,
Efrat Dagan,
Getta Fried,
Ilana Kepten & Eliezer Robinson
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Abstract
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| Revised exon-intron structure of human JAK3 locus |
837 |
| Rik A Brooimans,
Annemarie J van der Slot,
Adriënne JAM van den Berg & Ben JM Zegers
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Abstract
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| A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin |
841 |
| Joanna Pang,
Rebecca Allotey,
Noshir Wadia,
Hidenao Sasaki,
Laurence Bindoff & Susan Chamberlain
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