A dominant gene for developmental dyslexia on chromosome 3
Jaana Nopola-Hemmi, Birgitta Myllyluoma, Tuomas Haltia, Mikko Taipale, Vesa Ollikainen, Timo Ahonen, Arja Voutilainen, Juha Kere, and Elisabeth Widén
J Med Genet 2001; 38: 658-664. doi:10.1136/jmg.38.10.658
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Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Michaela Jaksch, Stephanie Kleinle, Curt Scharfe, Thomas Klopstock, Dieter Pongratz, Josef Müller-Höcker, Klaus-D Gerbitz, Sabina Liechti-Gallati, Hanns Lochmuller, and Rita Horvath
J Med Genet 2001; 38: 665-673. doi:10.1136/jmg.38.10.665
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An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality
N L Shannon, E L Maltby, A S Rigby, and O W J Quarrell
J Med Genet 2001; 38: 674-679. doi:10.1136/jmg.38.10.674
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Surveillance or surgery? A description of the factors that influence high risk premenopausal women's decisions about prophylactic oophorectomy
Nina Hallowell, Ian Jacobs, Martin Richards, James Mackay, and Martin Gore
J Med Genet 2001; 38: 683-691. doi:10.1136/jmg.38.10.683
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Oncology nurse training in cancer genetics
Clara Gaff, Kristiina Aittomäki, and Robert Williamson
J Med Genet 2001; 38: 691-695. doi:10.1136/jmg.38.10.691
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Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners
L Henneman, I Bramsen, H M van der Ploeg, H J Adèr, H E van der Horst, J J P Gille, and L P ten Kate
J Med Genet 2001; 38: 695-703. doi:10.1136/jmg.38.10.695
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Functional characterisation of mitochondrial tRNATyr mutation (5877G A) associated with familial chronic progressive external ophthalmoplegia
Ko Sahashi, Makoto Yoneda, Kinji Ohno, Masashi Tanaka, Tohru Ibi, and Kentaro Sahashi
J Med Genet 2001; 38: 703-705. doi:10.1136/jmg.38.10.703
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Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions
P Syrris, A Murray, N D Carter, W M McKenna, and S Jeffery
J Med Genet 2001; 38: 705-710. doi:10.1136/jmg.38.10.705
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Triplication of several PAR1 genes and part of the Homo sapiens specific Yp11.2/Xq21.3 region of homology in a 46,X,t(X;Y)(p22.33;p11.2) male with schizophrenia
Norman L J Ross, Jian Yang, Carole A Sargent, Catherine A Boucher, Shinichiro Nanko, Rekha Wadekar, Nic A Williams, Nabeel A Affara, and Timothy J Crow
J Med Genet 2001; 38: 710-719. doi:10.1136/jmg.38.10.710
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Potential mapping of corneal dermoids to Xq24-qter
Peer Dar, Ali A Javed, Myrna Ben-Yishay, Jose C Ferreira, Andrew D Paterson, Susan J Gross, David Chitayat, Bernice E Morrow, and Harold M Nitowsky
J Med Genet 2001; 38: 719-723. doi:10.1136/jmg.38.10.719
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Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect
Lionel Willatt, Andrew J Green, and Dorothy Trump
J Med Genet 2001; 38: 723-727. doi:10.1136/jmg.38.10.723
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The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications
Clara Ruiz-Ponte, Ana Vega, Roberto Conde, Francisco Barros, Angel Carracedo, Fiona Macdonald, and Yvonne Wallis
J Med Genet 2001; 38: e33. doi:10.1136/jmg.38.10.e33
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A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene
Mirella Filocamo, Stefano Regis, Raffaella Mazzotti, Giancarlo Parenti, Marina Stroppiano, and Rosanna Gatti
J Med Genet 2001; 38: e34. doi:10.1136/jmg.38.10.e34
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No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia
Sylvie Tuffery-Giraud, Laurent Cavalier, Agathe Roubertie, Caroline Guittard, Soukeyna Carles, Patrick Calvas, Bernard Echenne, Philippe Coubes, and Mireille Claustres
J Med Genet 2001; 38: e35. doi:10.1136/jmg.38.10.e35
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Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2 ) gene
Myrna Mustapha, Nabiha Salem, Valérie Delague, Eliane Chouery, Michella Ghassibeh, Myriam Rai, Jacques Loiselet, Christine Petit, and André Mégarbané
J Med Genet 2001; 38: e36. doi:10.1136/jmg.38.10.e36
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