Abstracts

	Medical genetics: advances in brief: Growing interest in overgrowth Sarah Slaney J Med Genet 1998; 35: 700. doi:10.1136/jmg.35.8.700 [PDF] [Request Permissions]
	Medical genetics: advances in brief: Diagnosing Friedreich's ataxia Sarah Slaney J Med Genet 1998; 35: 700. doi:10.1136/jmg.35.8.700-a [PDF] [Request Permissions]
	Medical genetics: advances in brief: Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy David O Robinson J Med Genet 1998; 35: 700. doi:10.1136/jmg.35.8.700-b [PDF] [Request Permissions]

Book Reviews

	Genetic Disorders and Pregnancy Outcome Robert Ogle J Med Genet 1998; 35: 702-703. doi:10.1136/jmg.35.8.702-b [PDF] [Request Permissions]
	The Book of Man: The Human Genome Project and the Quest to Discover Our Genetic Heritage Martin Farrall J Med Genet 1998; 35: 703. doi:10.1136/jmg.35.8.703 [PDF] [Request Permissions]
	Oligonucleotides as Therapeutic Agents Ron Trent J Med Genet 1998; 35: 703-704. doi:10.1136/jmg.35.8.703-a [PDF] [Request Permissions]
	The Yeast Two-Hybrid System Luke Hughes-Davies J Med Genet 1998; 35: 704. doi:10.1136/jmg.35.8.704 [PDF] [Request Permissions]
	Genetics. A Molecular Approach Julia Rankin J Med Genet 1998; 35: 704. doi:10.1136/jmg.35.8.704-a [PDF] [Request Permissions]
	The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics Evan Reid J Med Genet 1998; 35: 704. doi:10.1136/jmg.35.8.704-b [PDF] [Request Permissions]

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. D R Mowat, G D Croaker, D T Cass, B A Kerr, J Chaitow, L C Adès, N L Chia, and M J Wilson J Med Genet 1998; 35: 617-623. doi:10.1136/jmg.35.8.617 [Abstract] [PDF] [Request Permissions]
	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. M H Cnossen, K G Moons, M P Garssen, N M Pasmans, A de Goede-Bolder, M F Niermeijer, and D E Grobbee J Med Genet 1998; 35: 624-627. doi:10.1136/jmg.35.8.624 [Abstract] [PDF] [Request Permissions]
	Bony orbital morphology in neurofibromatosis type 1 (NF1). S C Kaste and E K Pivnick J Med Genet 1998; 35: 628-631. doi:10.1136/jmg.35.8.628 [Abstract] [PDF] [Request Permissions]
	Distortion of maternal-fetal angiotensin II type 1 receptor allele transmission in pre-eclampsia. L Morgan, S Crawshaw, P N Baker, J F Brookfield, F Broughton Pipkin, and N Kalsheker J Med Genet 1998; 35: 632-636. doi:10.1136/jmg.35.8.632 [Abstract] [PDF] [Request Permissions]
	Studies of FRAXA and FRAXE in women with premature ovarian failure. A Murray, J Webb, S Grimley, G Conway, and P Jacobs J Med Genet 1998; 35: 637-640. doi:10.1136/jmg.35.8.637 [Abstract] [PDF] [Request Permissions]
	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). A Gehrig, U Felbor, R E Kelsell, D M Hunt, I H Maumenee, and B H Weber J Med Genet 1998; 35: 641-645. doi:10.1136/jmg.35.8.641 [Abstract] [PDF] [Request Permissions]
	Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. K M Timms, F J Edwards, J W Belmont, J R Yates, and R A Gibbs J Med Genet 1998; 35: 646-649. doi:10.1136/jmg.35.8.646 [Abstract] [PDF] [Request Permissions]
	Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. D R Sjarif, R J Sinke, M Duran, F A Beemer, W J Kleijer, J K Ploos van Amstel, and B T Poll-The J Med Genet 1998; 35: 650-656. doi:10.1136/jmg.35.8.650 [Abstract] [PDF] [Request Permissions]
	Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case. F Muller, M Dommergues, B Simon-Bouy, C Ferec, J F Oury, M C Aubry, R Bessis, E Vuillard, E Denamur, T Bienvenu, and J L Serre J Med Genet 1998; 35: 657-660. doi:10.1136/jmg.35.8.657 [Abstract] [PDF] [Request Permissions]
	Congenital malformations: an inquiry into classification and nomenclature. H Kalter J Med Genet 1998; 35: 661-665. doi:10.1136/jmg.35.8.661 [Abstract] [PDF] [Request Permissions]
	Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. P Gasparini, A De Fazio, A I Croce, P Stanziale, and L Zelante J Med Genet 1998; 35: 666-667. doi:10.1136/jmg.35.8.666 [Abstract] [PDF] [Request Permissions]
	Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy. H Y Handoko, P J Wirapati, H A Sudoyo, M Sitepu, and S Marzuki J Med Genet 1998; 35: 668-671. doi:10.1136/jmg.35.8.668 [Abstract] [PDF] [Request Permissions]
	De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. C Dumanchin, A Brice, D Campion, D Hannequin, C Martin, V Moreau, Y Agid, M Martinez, F Clerget-Darpoux, and T Frebourg J Med Genet 1998; 35: 672-673. doi:10.1136/jmg.35.8.672 [Abstract] [PDF] [Request Permissions]
	Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis. D W Parsons, P E McAndrew, P S Allinson, W D Parker, Jr, A H Burghes, and T W Prior J Med Genet 1998; 35: 674-676. doi:10.1136/jmg.35.8.674 [Abstract] [PDF] [Request Permissions]
	Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. M R Passos-Bueno, A Richieri-Costa, A L Sertié, and A Kneppers J Med Genet 1998; 35: 677-679. doi:10.1136/jmg.35.8.677 [Abstract] [PDF] [Request Permissions]
	Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian population. E Trabetti, V Cusin, G Malerba, L C Martinati, A Casartelli, A L Boner, and P F Pignatti J Med Genet 1998; 35: 680-681. doi:10.1136/jmg.35.8.680 [Abstract] [PDF] [Request Permissions]
	Not para-, not peri-, but centric inversion of chromosome 12. A N Silahtaroglu, S Hacihanefioglu, G S Güven, A Cenani, J Wirth, N Tommerup, and Z Tümer J Med Genet 1998; 35: 682-684. doi:10.1136/jmg.35.8.682 [Abstract] [PDF] [Request Permissions]
	Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. C J Law, A M Fisher, and I K Temple J Med Genet 1998; 35: 685-689. doi:10.1136/jmg.35.8.685 [Abstract] [PDF] [Request Permissions]
	Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence? N Elçioglu and C M Hall J Med Genet 1998; 35: 690-694. doi:10.1136/jmg.35.8.690 [Abstract] [PDF] [Request Permissions]
	Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. E Austin-Ward, S Castillo, M Cuchacovich, A Espinoza, J Cofré-Beca, S González, X Solivelles, and J Bloomfield J Med Genet 1998; 35: 695-697. doi:10.1136/jmg.35.8.695 [Abstract] [PDF] [Request Permissions]
	Chondrodysplasia punctata and maternal systemic lupus erythematosus. H V Toriello J Med Genet 1998; 35: 698-699. doi:10.1136/jmg.35.8.698 [PDF] [Request Permissions]
	Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain. M Baiget, M J Barceló, and E Gimferrer J Med Genet 1998; 35: 701. doi:10.1136/jmg.35.8.701 [PDF] [Request Permissions]
	Mitochondrial DNA mutations and pathogenicity. P F Chinnery, D M Turnbull, N Howell, and R M Andrews J Med Genet 1998; 35: 701-702. doi:10.1136/jmg.35.8.701-a [PDF] [Request Permissions]
	"Cataplexy" in Coffin-Lowry syndrome. J P Fryns and E Smeets J Med Genet 1998; 35: 702. doi:10.1136/jmg.35.8.702 [PDF] [Request Permissions]
	Autoclaving Guthrie cards does not prevent their use in PCR reactions! R G Gray and S K Hall J Med Genet 1998; 35: 702. doi:10.1136/jmg.35.8.702-a [PDF] [Request Permissions]