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 |
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| Review |
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| Molecular basis of hereditary pancreatitis FREE |
| Jian-Min Chen & Claude Ferec |
| Abstract | PDF |
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| 473 |
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| Articles |
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| Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations FREE |
| Michele Belledi, Estella S Poloni, Rosa Casalotti, Franco Conterio, Ilia Mikerezi, James Tagliavini & Laurent Excoffier |
| Abstract | PDF |
|
| 480 |
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| Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients FREE |
| Celia Badenas, Roser Torra, Laureano Pérez-Oller, Judith Mallolas, Roberto Talbot-Wright, Vicenç Torregrosa & Alejandro Darnell |
| Abstract | PDF |
|
| 487 |
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| An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA) FREE |
| C Helmken, A Wetter, S Rudnik-Schöneborn, T Liehr, K Zerres & B Wirth |
| Abstract | PDF |
|
| 493 |
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| Identification of novel USH2A mutations: implications for the structure of USH2A protein FREE |
| Bo Dreyer, Lisbeth Tranebjærg, Thomas Rosenberg, Michael D Weston, William J Kimberling & Øivind Nilssen |
| Abstract | PDF |
|
| 500 |
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| Myotonic dystrophy (DM) protein kinase levels in congenital and adult DM patients FREE |
| Monica A Narang, James D Waring, Luc A Sabourin & Robert G Korneluk |
| Abstract | PDF |
|
| 507 |
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| Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies FREE |
| Ruud van den Bogaard, Cees AP Fijen, Mariëtte GJ Schipper, Louis de Galan, Ed J Kuijper & Marcel MAM Mannens |
| Abstract | PDF |
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| 513 |
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| Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion FREE |
| Dagmar Wieczorek, Mario Krause, Frank Majewski, Beate Albrecht, Denise Horn, Olaf Riess & Gabriele Gillessen-Kaesbach |
| Abstract | PDF |
|
| 519 |
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| Giant axonal neuropathy locus refinement to a < 590 kb critical interval FREE |
Laurent Cavalier, Christiane BenHamida, Rim Amouri, Samir Belal, Pascale Bomont, Nadège Lagarde, Laëtitia Gressin, David Callen, Ercan Demir, Haluk Topaloglu, Pierre Landrieu, Catherine Ioos, Mongi Ben Hamida, Michel K nig & Fayçal Hentati |
| Abstract | PDF |
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| 527 |
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| An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12 FREE |
| Koki Yamada, Hiro-aki Tomita, Koh-ichiro Yoshiura, Shinji Kondo, Keiko Wakui, Yoshimitsu Fukushima, Shiro Ikegawa, Yusuke Nakamura, Tsugio Amemiya & Norio Niikawa |
| Abstract | PDF |
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| 535 |
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| Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours FREE |
| Cíntia Alves, Filipe Silva, Leonor Gusmão, Raquel Seruca, Paula Soares, Rui M Reis & António Amorim |
| Abstract | PDF |
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| 540 |
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| Pedigree tests of transmission disequilibrium FREE |
| Gonçalo R Abecasis, William OC Cookson & Lon R Cardon |
| Abstract | PDF |
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| 545 |
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| Short Reports |
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| Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening FREE |
| Marie-Pierre Moizard, Annick Toutain, Delphine Fournier, Françoise Berret, Martine Raynaud, Catherine Billard, Christian Andres & Claude Moraine |
| Abstract | PDF |
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| 552 |
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| Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population FREE |
| Erik A Sistermans, René FM de Coo, Hetty M van Beerendonk, Bwee Tien Poll-The, Wim J Kleijer & Bernard A van Oost |
| Abstract | PDF |
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| 557 |
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| July 2000, Volume 8, Number 7 |
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