Table of contents

Research Article

• Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. (1 February, 1998)

  O Heinzlef, C Paternotte, F Mahieux, J F Prud'homme, J Dien, M Madigand, J Pouget, J Weissenbach, E Roullet, J Hazan
• "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. (1 February, 1998)

  Y J Crow, S M Zuberi, R McWilliam, J L Tolmie, A Hollman, K Pohl, J B Stephenson
• Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. (1 February, 1998)

  M A Pujana, V Volpini, M Gratacós, J Corral, I Banchs, A Sánchez, D Genís, C Cervera, X Estivill
• Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. (1 February, 1998)

  D Wöhrle, U Salat, D Gläser, J Mücke, M Meisel-Stosiek, D Schindler, W Vogel, P Steinbach
• Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. (1 February, 1998)

  B M Ferguson, N S Thomas, F Munoz, D Morgan, A Clarke, J Zonana
• Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes. (1 February, 1998)

  J Chang-Claude, J Dong, S Schmidt, M Shayeghi, D Komitowski, H Becher, M R Stratton, B Royer-Pokora
• P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. (1 February, 1998)

  A Gilfillan, J P Warner, J M Kirk, T Marshall, A Greening, L P Ho, T Hargreave, B Stack, D McIntyre, R Davidson, J C Dean, W Middleton, D J Brock
• Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. (1 February, 1998)

  T Tóth, I Findlay, C Papp, E Tóth-Pál, T Marton, B Nagy, P Quirke, Z Papp
• The mechanisms involved in formation of deletions and duplications of 15q11-q13. (1 February, 1998)

  W P Robinson, F Dutly, R D Nicholls, F Bernasconi, M Peñaherrera, R C Michaelis, D Abeliovich, A A Schinzel
• Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients. (1 February, 1998)

  C Verlingue, S Vuillaumier, B Mercier, M Le Gac, J Elion, C Férec, E Denamur
• A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. (1 February, 1998)

  M Bayés, B Goldaracena, A Martínez-Mir, M I Iragui-Madoz, T Solans, P Chivelet, E Bussaglia, M A Ramos-Arroyo, M Baiget, L Vilageliu, S Balcells, R Gonzàlez-Duarte, D Grinberg
• Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH. (1 February, 1998)

  F Sloan-Béna, C Philippe, B LeHeup, F Wuilque, E R Levy, M Chéry, P Jonveaux, A P Monaco
• A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). (1 February, 1998)

  N J Lench, A F Markham, R F Mueller, D P Kelsell, R J Smith, P J Willems, I Schatteman, H Capon, P J Van De Heyning, G Van Camp
• A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma. (1 February, 1998)

  P Lapunzina, I Badia, C Galoppo, E De Matteo, P Silberman, A Tello, J Grichener, R Hughes-Benzie
• Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome? (1 February, 1998)

  M Silengo, L Silvestro, G Capizzi, M Lerone, M Seri, L Rosaia, G Romeo
• MRI findings in a patient with partial monosomy 10p. (1 February, 1998)

  F Sunada, F C Rash, D A Tam
• Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion. (1 February, 1998)

  C M Brewer, W W Lam, C Hayward, E Grace, E R Maher, D R FitzPatrick
• Prenatal diagnosis by FISH of a 22q11 deletion in two families. (1 February, 1998)

  M F Portnoï, N Joyé, M Gonzales, S Demczuk, L Fermont, G Gaillard, G Bercau, G Morlier, J L Taillemite
• A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy. (1 February, 1998)

  K S Reddy, M B Larsen
• Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. (1 February, 1998)

  C Hayward, D J Brock, R A Minns, R J Swingler
• RP11 is the second most common locus for dominant retinitis pigmentosa. (1 February, 1998)

  E Vithana, M Al-Maghtheh, S S Bhattacharya, C F Inglehearn