|
|
|
 |
|
|
| Review |
|
| Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies FREE |
| G M Terwindt, R A Ophoff, Joost Haan, L A Sandkuijl & R R Frants MD Ferrari for the Dutch Migraine Genetics Research Group* |
| Abstract | PDF |
|
| 297 |
|
| Original paper |
|
| Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia FREE |
| E Mornet, A Taillandier, S Peyramaure, F Kaper, F Muller, R Brenner, P Bussière, P Freisinger, J Godard, M Le Merrer, J F Oury, H Plauchu, R Puddu, J M Rival, A Superti-Furga, R L Touraine, J L Serre & B Simon-Bouy |
| Abstract | PDF |
|
| 308 |
|
| Genetic diversity in Northern Spain (Basque Country and Cantabria): GM and KM variation related to demographic histories FREE |
| E Esteban, J M Dugoujon, E Guitard, M T Sénégas, C Manzano, C de la Rúa, N Valveny & P Moral |
| Abstract | PDF |
|
| 315 |
|
| Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy FREE |
| Jocelyn Laporte, Christophe Guiraud-Chaumeil, Stephan M Tanner, François Blondeau, Ling-Jia Hu, Serge Vicaire, Sabina Liechti-Gallati & Jean-Louis Mandel |
| Abstract | PDF |
|
| 325 |
|
| Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1 FREE |
| Susanne Kjaergaard, Flemming Skovby & Marianne Schwartz |
| Abstract | PDF |
|
| 331 |
|
| Isolation of a novel human voltage-dependent anion channel gene FREE |
| Zohra Rahmani, Catherine Maunoury & Aleem Siddiqui |
| Abstract | PDF |
|
| 337 |
|
| A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9 FREE |
| Suzanne M Leal, Fazil Apaydin, Carol Barnwell, Metin Iber, Tolga Kandogan, Markus Pfister, Uwe Braendle, Orhan Cura, Marvin Schwalb, Hans-Peter Zenner & Emilia Vitale |
| Abstract | PDF |
|
| 341 |
|
| Linkage analysis in two large Italian pedigrees affected with nail patella syndrome FREE |
| Salvatore Melchionda, Marco Seri, Massimo Carella, Maria Rosaria Piemontese, Xiao-xiao Zhang, Leopoldo Zelante, Giovanni Romeo & Paolo Gasparini |
| Abstract | PDF |
|
| 345 |
|
| Crossing over analysis at pachytene in man FREE |
| A L Barlow & M A Hultén |
| Abstract | PDF |
|
| 350 |
|
| Asynchronous replication of allelic loci in Down syndrome FREE |
| Aliza Amiel, Lydia Avivi, Elena Gaber & Moshe D Fejgin |
| Abstract | PDF |
|
| 359 |
|
| mtDNA analysis of the Galician population: a genetic edge of European variation FREE |
| Antonio Salas, David Comas, María Victoria Lareu, Jaume Bertranpetit & Angel Carracedo |
| Abstract | PDF |
|
| 365 |
|
| Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 FREE |
| A J W van der Vleuten, C M A van Ravenswaaij-Arts, C J M Frijns, A P T Smits, G Hageman, G W Padberg & H Kremer |
| Abstract | PDF |
|
| 376 |
|
| Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette FREE |
| Els Jehaes, Ronny Decorte, Alain Peneau, Johan H Petrie, Philippe A Boiry, Anja Gilissen, Jean Paul Moisan, Herman Van den Berghe, Olivier Pascal & Jean-Jacques Cassiman |
| Abstract | PDF |
|
| 383 |
|
| Short report |
|
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the  -sarcoglycan gene FREE |
| Adriana Lasa, Federica Piccolo, Carles de Diego, Marc Jeanpierre, Jaume Colomer, Maria José Rodríguez, Jon Andoni Urtizberea, Montserrat Baiget, Jean Claude Kaplan & Pia Gallano |
| Abstract | PDF |
|
| 396 |
|
| Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy FREE |
| Heidi Stöhr, Andreas Marquardt, Andrea Rivera, Ulrich Kellner & Bernhard HF Weber |
| Abstract | PDF |
|
| 400 |
|
| A very high density microsatellite map (1 STR / 41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region FREE |
| Timothy C Cox, Liza L Cox & Andrea Ballabio |
| Abstract | PDF |
|
| 406 |
|
| Package review |
|
| Educational material on genetics for schools: 'The Science behind the Jeans for Genes Day' FREE |
| M Pembrey & J Tizzard |
| Abstract | PDF |
|
| 413 |
|
| Erratum |
|
| Erratum FREE |
| Abstract | PDF |
|
| 415 |
|
|
|
| July 1998, Volume 6, Number 4 |
|
| <Previous Issue Next > |
