Table of contents

Research Article

• Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. (1 August, 1998)

  D R Mowat, G D Croaker, D T Cass, B A Kerr, J Chaitow, L C Adès, N L Chia, M J Wilson
• Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital. (1 August, 1998)

  M H Cnossen, K G Moons, M P Garssen, N M Pasmans, A de Goede-Bolder, M F Niermeijer, D E Grobbee
• Bony orbital morphology in neurofibromatosis type 1 (NF1). (1 August, 1998)

  S C Kaste, E K Pivnick
• Distortion of maternal-fetal angiotensin II type 1 receptor allele transmission in pre-eclampsia. (1 August, 1998)

  L Morgan, S Crawshaw, P N Baker, J F Brookfield, F Broughton Pipkin, N Kalsheker
• Studies of FRAXA and FRAXE in women with premature ovarian failure. (1 August, 1998)

  A Murray, J Webb, S Grimley, G Conway, P Jacobs
• Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). (1 August, 1998)

  A Gehrig, U Felbor, R E Kelsell, D M Hunt, I H Maumenee, B H Weber
• Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. (1 August, 1998)

  K M Timms, F J Edwards, J W Belmont, J R Yates, R A Gibbs
• Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. (1 August, 1998)

  D R Sjarif, R J Sinke, M Duran, F A Beemer, W J Kleijer, J K Ploos van Amstel, B T Poll-The
• Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case. (1 August, 1998)

  F Muller, M Dommergues, B Simon-Bouy, C Ferec, J F Oury, M C Aubry, R Bessis, E Vuillard, E Denamur, T Bienvenu, J L Serre
• Congenital malformations: an inquiry into classification and nomenclature. (1 August, 1998)

  H Kalter
• Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. (1 August, 1998)

  P Gasparini, A De Fazio, A I Croce, P Stanziale, L Zelante
• Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy. (1 August, 1998)

  H Y Handoko, P J Wirapati, H A Sudoyo, M Sitepu, S Marzuki
• De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. (1 August, 1998)

  C Dumanchin, A Brice, D Campion, D Hannequin, C Martin, V Moreau, Y Agid, M Martinez, F Clerget-Darpoux, T Frebourg
• Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis. (1 August, 1998)

  D W Parsons, P E McAndrew, P S Allinson, W D Parker, A H Burghes, T W Prior
• Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. (1 August, 1998)

  M R Passos-Bueno, A Richieri-Costa, A L Sertié, A Kneppers
• Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian population. (1 August, 1998)

  E Trabetti, V Cusin, G Malerba, L C Martinati, A Casartelli, A L Boner, P F Pignatti
• Not para-, not peri-, but centric inversion of chromosome 12. (1 August, 1998)

  A N Silahtaroglu, S Hacihanefioglu, G S Güven, A Cenani, J Wirth, N Tommerup, Z Tümer
• Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. (1 August, 1998)

  C J Law, A M Fisher, I K Temple
• Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence? (1 August, 1998)

  N Elçioglu, C M Hall
• Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. (1 August, 1998)

  E Austin-Ward, S Castillo, M Cuchacovich, A Espinoza, J Cofré-Beca, S González, X Solivelles, J Bloomfield
• Chondrodysplasia punctata and maternal systemic lupus erythematosus. (1 August, 1998)

  H V Toriello
• Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain. (1 August, 1998)

  M Baiget, M J Barceló, E Gimferrer
• Mitochondrial DNA mutations and pathogenicity. (1 August, 1998)

  P F Chinnery, D M Turnbull, N Howell, R M Andrews
• "Cataplexy" in Coffin-Lowry syndrome. (1 August, 1998)

  J P Fryns, E Smeets
• Autoclaving Guthrie cards does not prevent their use in PCR reactions! (1 August, 1998)

  R G Gray, S K Hall