Table of contents

Letters to JMG

• Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families

  (1 July, 2002)

  W C Nichols, N Pankratz, S K Uniacke, M W Pauciulo, C Halter, A Rudolph, P M Conneally, T Foroud
• Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

  (1 July, 2002)

  A Splendore, E W Jabs, M R Passos-Bueno
• Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

  (1 July, 2002)

  O Bartsch, K Locher, P Meinecke, W Kress, E Seemanová, A Wagner, K Ostermann, G Rödel
• Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

  (1 July, 2002)

  V Migliosi, S Modamio-Høybjør, M A Moreno-Pelayo, M Rodríguez-Ballesteros, M Villamar, D Tellería, I Menéndez, F Moreno, I del Castillo
• Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere (1 July, 2002)

  S Kirsch, B Weiss, S Kleiman, K Roberts, J Pryor, A Milunsky, A Ferlin, C Foresta, G Matthijs, G A Rappold
• Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses (1 July, 2002)

  F Vialard, C Ottolenghi, M Gonzales, A Choiset, S Girard, J P Siffroi, K McElreavey, C Vibert-Guigue, M Sebaoun, N Joyé, M F Portnoï, F Jaubert, M Fellous
• Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11→q11:)/46,XX karyotype (1 July, 2002)

  F von Eggeling, C Hoppe, U Bartz, H Starke, G Houge, U Claussen, G Ernst, D Kotzot, T Liehr
• Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia (1 July, 2002)

  G Lesca, C Goizet, A Dürr
• Concerns of women presenting to a comprehensive cancer centre for genetic cancer risk assessment (1 July, 2002)

  D J MacDonald, J Choi, B Ferrell, S Sand, S McCaffrey, K R Blazer, M Grant, J N Weitzel
• Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future (1 July, 2002)

  M McAllister, K O'Malley, P Hopwood, B Kerr, A Howell, D G R Evans