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| | Articles |
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| Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint FREE |
| Ph Debeer, E F P M Schoenmakers, R Thoelen, M Holvoet, T Kuittinen, G Fabry, J-P Fryns, F R Goodman & W J M Van de Ven |
| Abstract | PDF |
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| 561 |
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| A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? FREE |
| David Johnson, Steven A Wall, Susan Mann & Andrew OM Wilkie |
| Abstract | PDF |
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| 571 |
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| Spectrum of retGC1 mutations in Leber's congenital amaurosis FREE |
| Isabelle Perrault, Jean-Michel Rozet, Sylvie Gerber, Imad Ghazi, Dominique Ducroq, Eric Souied, Corinne Leowski, Michèle Bonnemaison, Jean-Louis Dufier, Arnold Munnich & Josseline Kaplan |
| Abstract | PDF |
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| 578 |
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| Stability and haplotype analysis of the FRAXE region FREE |
| Anna Murray, Sarah Ennis, Sheila A Youings, Andrea J Sharrock, Catherine Lewis, Michelle C Pound, James N Macpherson, Nick R Dennis, Newton E Morton & Patricia A Jacobs |
| Abstract | PDF |
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| 583 |
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| Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families FREE |
| Emanuel Yakobson, Pnina Shemesh, Esther Azizi, Eyal Winkler, Norman Lassam, David Hogg, Sharon Brookes, Gordon Peters, Michal Lotem, Abraham Zlotogorski, Marina Landau, Mark Safro, Raphael Shafir, Eitan Friedman & Hava Peretz |
| Abstract | PDF |
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| 590 |
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| Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q FREE |
| Maria Clara Bonaglia, Roberto Giorda, Gerardina Poggi, Maria Elisabetta Raggi, Elena Rossi, Anna Baroncini, Sabrina Giglio, Renato Borgatti & Orsetta Zuffardi |
| Abstract | PDF |
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| 597 |
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| Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo FREE |
| Teppo Varilo, Maris Laan, Iiris Hovatta, Victor Wiebe, Joseph D Terwilliger & Leena Peltonen |
| Abstract | PDF |
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| 604 |
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| Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome FREE |
| Smaïl Hadj-Rabia, Rémi Salomon, Anna Pelet, Clothilde Penet, Annick Rotschild, Marc-Henri de Laët, Beji Chaouachi, Ratiba Hannachi, Fawzi Bakiri, Raja Brauner, Jean-Louis Chaussain, Arnold Munnich & Stanislas Lyonnet |
| Abstract | PDF |
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| 613 |
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| Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects FREE |
| Bruno Saint-Jore, Mathilde Varret, Christiane Dachet, Jean-Pierre Rabès, Martine Devillers, Danielle Erlich, Patricia Blanchard, Michel Krempf, Denis Mathé, Bernard Chanu, Bernard Jacotot, Michel Farnier, Catherine Bonaïti-Péllié, Claudine Junien & Catherine Boileau |
| Abstract | PDF |
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| 621 |
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| Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia FREE |
| A Lund, B Udd, V Juvonen, P M Andersen, K Cederquist, L-O Ronnevi, P Sistonen, S A Sörensen, L Tranebjærg, C Wallgren-Pettersson & M-L Savontaus |
| Abstract | PDF |
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| 631 | | | Short Reports |
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| Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features FREE |
| Tjitske Kleefstra, Guillaume van de Zande, Gerard Merkx, Hanneke Mieloo, Jan MN Hoovers & Dominique Smeets |
| Abstract | PDF |
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| 637 |
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| Mole maker phenotype: possible narrowing of the candidate region FREE |
| A Sensi, F Gualandi, M C Pittalis, O Calabrese, F Falciano, I Maestri, L Bovicelli & E Calzolari |
| Abstract | PDF |
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| 641 |
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| Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes FREE |
| Deborah Krakow, Denise Salazar, William R Wilcox, David L Rimoin & Daniel H Cohn |
| Abstract | PDF |
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| 645 |
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| Identification of genetic heterogeneity in Refsum's disease FREE |
| Anthony S Wierzbicki, John Mitchell, Michelle Lambert-Hammill, Margaret Hancock, Juliet Greenwood, Margaret C Sidey, Jacqueline de Belleroche & F Brian Gibberd |
| Abstract | PDF |
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| 649 |
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| August 2000, Volume 8, Number 8 |
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