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Articles |
| Multipoint genomic scanning for quantitative loci: effects of map density, sibship size and computational approach |
103 |
| Yin Y Shugart & David E Goldgar
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Abstract
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| Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr-15 |
110 |
| Chun Xu,
Yamei Dai,
Sten Fredrikson & Jan Hillert
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Abstract
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| Testing of human homologues of murine obesity genes as candidate regions in Finnish obese sib pairs |
117 |
| Miina Öhman,
Laura Oksanen,
Katariina Kainulainen,
Olli A Jänne,
Jaakko Kaprio,
Markku Koskenvuo,
Pertti Mustajoki,
Kimmo Kontula & Leena Peltonen
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Abstract
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| An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity |
125 |
| Stefano Regis,
Mirella Filocamo,
Fabio Corsolini,
Francesco Caroli,
Joke LM Keulemans,
Otto P van Diggelen & Rosanna Gatti
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Abstract
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| Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients |
131 |
| Anne Moncla,
Perrine Malzac,
Marie-Antoinette Voelckel,
Pascal Auquier,
Lydie Girardot,
Marie-Genevieve Mattei,
Nicole Philip,
Jean-François Mattei,
Marc Lalande & Marie-Odile Livet
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Abstract
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| Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals |
140 |
| Anja Rovio,
Valeria Tiranti,
Amy L Bednarz,
Anu Suomalainen,
Johannes N Spelbrink,
Nicolas Lecrenier,
Atle Melberg,
Massimo Zeviani,
Joanna Poulton,
Françoise Foury & Howard T Jacobs
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Abstract
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| Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract |
147 |
| Patrícia Maciel,
Claudia Gaspar,
Laura Guimarães,
Jun Goto,
Iscia Lopes-Cendes,
Sean Hayes,
Karin Arvidsson,
Aureliano Dias,
Jorge Sequeiros,
Alda Sousa & Guy A Rouleau
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Abstract
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| Characterisation and expression of a large, 13.7 kb FMR2 isoform. |
157 |
| Jozef Gecz & John C Mulley
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Abstract
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A complex haemoglobinopathy diagnosis in a family with both  o- and  o/+-thalassaemia homozygosity |
163 |
| PC Giordano,
CL Harteveld,
LA Bok,
P van Delft,
D Batelaan,
FA Beemer & LF Bernini
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Abstract
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| Genetic control of lipoprotein(a) concentrations is different in Africans and Caucasians |
169 |
| Michael Scholz,
Hans-Georg Kraft,
Arnulf Lingenhel,
Rhena Delport,
Est´ H Vorster,
Heike Bickeböller & Gerd Utermann
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Abstract
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| Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients |
179 |
| Kiriaki Kekou,
Ariadni Mavrou,
Lina Florentin,
Sotiris Youroukos,
Dimitrios I Zafiriou,
Helen N Skouteli & Catherine Metaxotou
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Abstract
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| Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland |
188 |
| Antti Levo,
Jarmo Jääskeläinen,
Pertti Sistonen,
Marja-Kaisa Sirén,
Raimo Voutilainen & Jukka Partanen
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Abstract
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| Mortality risk in men is associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR) |
197 |
| Bastiaan T Heijmans,
Jacobijn Gussekloo,
Cornelis Kluft,
Simone Droog,
A Margot Lagaay,
Dick L Knook,
Rudi GJ Westendorp & Eline P Slagboom
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Abstract
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| Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups |
205 |
| Sirpa Ala-Mello,
Olli Koskimies,
Juhani Rapola & Helena Kääriäinen
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Abstract
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| Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies |
212 |
| Markku Ryynänen,
Seppo Heinonen,
Minna Makkonen,
Elisa Kajanoja,
Arto Mannermaa & Kirkinen Pertti
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Abstract
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| A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease |
217 |
| Monique Losekoot,
Bert Bakker,
Franco Laccone,
Su Stenhouse & Rob Elles
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Abstract
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| Asynchronous replication of alleles in genomes carrying an extra autosome |
223 |
| Aliza Amiel,
Avital Korenstein,
Elena Gaber & Lydia Avivi
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Abstract
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| Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation |
231 |
| P Cifuentes,
J Navarro,
J Blanco,
F Vidal,
L Míguez,
J Egozcue & J Benet
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Abstract
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Short Reports |
| Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing |
239 |
| Anne Girardet,
Sigbjørn Lien,
Esther P Leeflang,
Laurent Beaufrère,
Sylvie Tuffery,
Francis Munier,
Norman Arnheim,
Mireille Claustres & Franck Pellestor
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Abstract
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| DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter |
243 |
| Leanne Moynihan,
Mark Houseman,
Valerie Newton,
Robert Mueller & Nicholas Lench
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Abstract
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| No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia |
247 |
| Frédérique Bonnet-Brilhault,
Claudine Laurent,
Dominique Campion,
Florence Thibaut,
Carole Lafargue,
Françoise Charbonnier,
Jean-François Deleuze,
Jean-François Ménard,
Maurice Jay,
Michel Petit,
Thierry Frebourg & Jacques Mallet
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Abstract
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| Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex |
251 |
| M Vainzof,
ES Moreira,
G Ferraz,
MR Passos-Bueno,
SK Marie & M Zatz
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Abstract
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| Mutation in the zonadhesin-like domain of -tectorin associated with autosomal dominant non-syndromic hearing loss |
255 |
| Nicole Alloisio,
Laurette Morlé,
Muriel Bozon,
Jacqueline Godet,
Kristien Verhoeven,
Guy Van Camp,
Henri Plauchu,
Philippe Muller,
Lionel Collet & Geneviève Lina-Granade
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Abstract
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| Haplotypes and mutations of the PAH locus in Egyptian families with PKU |
259 |
| L Effat,
A Kuzmin,
N Kasem,
N Abdel Meguid,
S Kotb,
RC Eisensmith,
SA Temtamy,
S Rushdi,
S Woo & M El-Awady
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Abstract
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| Experimentally observed germline mutations at human micro- and minisatellite loci |
263 |
| Antti Sajantila,
Matti Lukka & Ann-Christine Syvänen
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Abstract
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