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 |
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|
| Viewpoint |
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| Time to take epigenetic inheritance seriously FREE |
| Marcus E Pembrey |
| Abstract | Full text | PDF |
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| 669 |
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| Letter |
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| Diagnosis of Hb-pathies FREE |
| P C Giordano |
| Abstract | Full text | PDF |
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| 672 |
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| Review |
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| Marfan syndrome in the third Millennium FREE |
| Gwenaëlle Collod-Béroud & Catherine Boileau |
| Abstract | Full text | PDF |
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| 673 |
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| Articles |
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| Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period FREE |
| G Kaati, L O Bygren & S Edvinsson |
| Abstract | Full text | PDF |
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| 682 |
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| Prenatal testing for Huntington's disease: a European collaborative study FREE |
| Sheila A Simpson, Moniek W Zoeteweij, Kurt Nys, Peter Harper, Alexandra Dürr, Gioia Jacopini, Christos Yapijakis & Gerry Evers-Kiebooms |
| Abstract | Full text | PDF |
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| 689 |
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| Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis FREE |
| Voula Velissariou, Thalia Antoniadi, Jolanda Gyftodimou, Katerina Bakou, Maria Grigoriadou, Stavroula Christopoulou, Athina Hatzipouliou, Jackie Donoghue, Panagiotis Karatzis, Efstathia Katsarou & Michael B Petersen |
| Abstract | Full text | PDF |
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| 694 |
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| Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature FREE |
| Laurence Faivre, Philippe Gosset, Valérie Cormier-Daire, Sylvie Odent, Jeanne Amiel, Irina Giurgea, Marie-Cécile Nassogne, Laurent Pasquier, Arnold Munnich, Serge Romana, Marguerite Prieur, Michel Vekemans, Marie-Christine de Blois & Catherine Turleau |
| Abstract | Full text | PDF |
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| 699 |
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| An 11p;17p telomeric translocation in two families associated with recurrent miscarriages andMiller-Dieker syndrome FREE |
| Christine A Joyce, Nicholas R Dennis, Francis Howard, Louisa M Davis & N Simon Thomas |
| Abstract | Full text | PDF |
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| 707 |
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| Detection of putative functional angiotensinogen (AGT) gene variants controlling plasma AGT levels by combined segregation-linkage analysis FREE |
| Eva Brand, Nathalie Chatelain, Françoise Paillard, Laurence Tiret, Sophie Visvikis, Mark Lathrop, Florent Soubrier & Florence Demenais |
| Abstract | Full text | PDF |
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| 715 |
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| Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype FREE |
| Efrat Dagan, Eitan Friedman, Tamar Paperna, Nirit Carmi & Ruth Gershoni-Baruch |
| Abstract | Full text | PDF |
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| 724 |
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| CFTR gene mutations in sarcoidosis FREE |
| Manfred Schürmann, Melanie Albrecht, Eberhard Schwinger & Manfred Stuhrmann |
| Abstract | Full text | PDF |
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| 729 |
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| Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations FREE |
| Florence Cavé-Riant, Christian Denier, Pierre Labauge, Michaelle Cécillon, Jacqueline Maciazek, Anne Joutel, Sophie Laberge-le Couteulx, Elisabeth Tournier-Lasserve & the Société Française de Neurochirurgie |
| Abstract | Full text | PDF |
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| 733 |
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| Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy FREE |
| Zhyldyz T Kabaeva, Andreas Perrot, Bastian Wolter, Rainer Dietz, Nuno Cardim, João Martins Correia, Hagen D Schulte, Almaz A Aldashev, Mirsaid M Mirrakhimov & Karl Josef Osterziel |
| Abstract | Full text | PDF |
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| 741 |
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| Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males FREE |
| Sandra D O'Dell, Holly E Syddall, Avan Aihie Sayer, Cyrus Cooper, Caroline H D Fall, Elaine M Dennison, David I W Phillips, Tom R Gaunt, Patricia J Briggs & Ian N M Day |
| Abstract | Full text | PDF |
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| 749 |
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| Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs) FREE |
| Bärbel Felder, Karolin Stegmann, Almut Schultealbert, Frank Geller, Elisabeth Strehl, August Ermert & Manuela C Koch |
| Abstract | Full text | PDF |
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| 753 |
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| Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome FREE |
| Virginie S Vervoort, Richard J H Smith, Jane O'Brien, Richard Schroer, Albert Abbott, Roger E Stevenson & Charles E Schwartz |
| Abstract | Full text | PDF |
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| 757 |
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| A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation FREE |
| Marie A Shaw, Pietro Chiurazzi, Dennis R Romain, Giovanni Neri & Jozef Gécz |
| Abstract | Full text | PDF |
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| 767 |
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| Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis FREE |
| C Dobson-Stone, A Danek, L Rampoldi, R J Hardie, R M Chalmers, N W Wood, S Bohlega, M T Dotti, A Federico, M Shizuka, M Tanaka, M Watanabe, Y Ikeda, M Brin, L G Goldfarb, B I Karp, S Mohiddin, L Fananapazir, A Storch, A E Fryer, P Maddison, I Sibon, P C Trevisol-Bittencourt, C Singer, I R Caballero, J O Aasly, K Schmierer, R Dengler, L-P Hiersemenzel, M Zeviani, V Meiner, A Lossos, S Johnson, F C Mercado, G Sorrentino, N Dupré, G A Rouleau, J Volkmann, J Arpa, A Lees, G Geraud, S Chouinard, A Németh & A P Monaco |
| Abstract | Full text | PDF |
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| 773 |
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| Book Review |
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| Cardiovascular Genetics for Clinicians FREE |
| Steve E Humpries |
| Abstract | Full text | PDF |
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| 782 |
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| November 2002, Volume 10, Number 11 |
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