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Articles |
| Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL |
903 |
| Jill Brown,
Sharon W Horsley,
Christine Jung,
Kaan Saracoglu,
Bart Janssen,
Michaela Brough,
Markus Daschner,
Bernd Beedgen,
Guido Kerkhoffs,
Roland Eils,
Peter C Harris,
Anna Jauch & Lyndal Kearney
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Abstract
Full Article (PDF)
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| Parental origin and mechanisms of formation of triploidy: a study of 25 cases |
911 |
| Alessandra Baumer,
Damina Balmer,
Franz Binkert & Albert Schinzel
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Abstract
Full Article (PDF)
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| Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia |
918 |
| Jenni Jonasson,
Vesa Juvonen,
Pertti Sistonen,
Jaakko Ignatius,
Daniel Johansson,
Erik J Björck,
Jan Wahlström,
Atle Melberg,
Gösta Holmgren,
Lars Forsgren & Monica Holmberg
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Abstract
Full Article (PDF)
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| Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes |
923 |
| Amit K Maiti,
Marie-Geneviève Mattéi,
Mark Jorissen,
Armin Volz,
Andreas Zeigler & Patrice Bouvagnet
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Abstract
Full Article (PDF)
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| Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples |
933 |
| Charlotta Olsson,
Erik Waldenström,
Kerstin Westermark,
Ulf Landegren & Ann-Christine Syvänen
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Abstract
Full Article (PDF)
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| Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas |
939 |
| Mirjam Luijten,
Sandra Redeker,
Max M van Noesel,
Dirk Troost,
Andries Westerveld & Theo JM Hulsebos
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Abstract
Full Article (PDF)
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| Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions |
946 |
| Pilar Gómez-Garre,
Yolanda Sanz,
Santiago Rodríguez de Córdoba & José M Serratosa
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Abstract
Full Article (PDF)
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| Elastin: mutational spectrum in supravalvular aortic stenosis |
955 |
| Kay Metcalfe,
Agnes K Rucka,
Leslie Smoot,
Guenter Hofstadler,
Gerald Tuzler,
Pascal McKeown,
Victoria Siu,
Anita Rauch,
John Dean,
Nick Dennis,
Ian Ellis,
William Reardon,
Cheryl Cytrynbaum,
Lucy Osborne,
John R Yates,
Andrew P Read,
Dian Donnai & Mayada Tassabehji
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|
Abstract
Full Article (PDF)
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| mtDNA hypervariable region II (HVII) sequences in human evolution studies |
964 |
| Antonio Salas,
Victoria Lareu,
Francesc Calafell,
Jaume Bertranpetit & Ángel Carracedo
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Abstract
Full Article (PDF)
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Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3'A, CCR2-64I, and CCR5- 32) in global populations |
975 |
| Bing Su,
Guangyan Sun,
Daru Lu,
Junhua Xiao,
Fang Hu,
Ranajit Chakraborty,
Ranjan Deka & Li Jin
|
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Abstract
Full Article (PDF)
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| Allelic association is increased by correlation of effective family size |
980 |
| Frédéric Austerlitz & Evelyne Heyer
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Abstract
Full Article (PDF)
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| Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23 |
986 |
| Pascale Bomont,
Mitsunory Watanabe,
Ruth Gershoni-Barush,
Masami Shizuka,
Makoto Tanaka,
Jinpei Sugano,
Christophe Guiraud-Chaumeil & Michel Koenig
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Abstract
Full Article (PDF)
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Short Reports |
| A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31 |
991 |
| L J Pulleyn,
A P Jackson,
E Roberts,
A Carridice,
C Muxworthy,
M Houseman,
L I Al-Gazali,
N J Lench,
A F Markham & R F Mueller
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|
Abstract
Full Article (PDF)
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| Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor |
994 |
| Emanuele Miraglia del Giudice,
Giangennaro Coppola,
Goffredo Scuccimarra,
Grazia Cirillo,
Giulia Bellini & Antonio Pascotto
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|
Abstract
Full Article (PDF)
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Erratum |
| EUROGAPPP PROJECT 1999 - 2000 Public and Professional Policy Committee (PPPC)* Population genetic screening programmes: Proposed recommendations of the European Society of Human Genetics |
998 |
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Full Article (PDF)
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Author Index |
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1001 |
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Full Article (PDF)
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Keyword index |
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1006 |
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Full Article (PDF)
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