Table of contents

Research Article

• A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. (1 July, 1997)

  G S Pai, B Hane, M Joseph, R Nelson, L S Hammond, J F Arena, H A Lubs, R E Stevenson, C E Schwartz
• Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. (1 July, 1997)

  L Strain, A F Wright, D T Bonthron
• Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors. (1 July, 1997)

  D Kumar, G Moss, R Primhak, R Coombs
• Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy. (1 July, 1997)

  A P Brézin, A Béchetoille, P Hamard, F Valtot, M Berkani, A Belmouden, M F Adam, S Dupont de Dinechin, J F Bach, H J Garchon
• The effects of genotype and infant weight on adult plasma levels of fibrinogen, factor VII, and LDL cholesterol are additive. (1 July, 1997)

  J A Henry, M Bolla, C Osmond, C Fall, D J Barker, S E Humphries
• Progressive pseudorheumatoid dysplasia: report of a family and review. (1 July, 1997)

  H E el-Shanti, H Z Omari, H I Qubain
• Intelligence indices in people with a high/low risk for developing Huntington's disease. (1 July, 1997)

  G M de Boo, A Tibben, J B Lanser, A Jennekens-Schinkel, J Hermans, M Vegter-van der Vlis, R A Roos
• Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3. (1 July, 1997)

  S G Kant, A Van Haeringen, E Bakker, I Stec, D Donnai, P Mollevanger, G C Beverstock, M C Lindeman-Kusse, G J Van Ommen
• Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. (1 July, 1997)

  A N Akarsu, U Saatci, S Ozen, A Bakkaloglu, N Besbas, M Sarfarazi
• Four frameshift mutations in neurofibromatosis type 1 caused by small insertions. (1 July, 1997)

  S D Colman, C R Abernathy, V T Ho, M R Wallace
• Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). (1 July, 1997)

  B D Coppin, I K Temple
• A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. (1 July, 1997)

  M Ariza, V Alvarez, R Marín, S Aguado, C López-Larrea, J Alvarez, M J Menéndez, E Coto
• Identification of a recombination event narrowing the Lafora disease gene region. (1 July, 1997)

  L O Maddox, M Descartes, J Collins, J Keating, S Rosenfeld, C Palmer, A J Carroll, R Kuzniecky
• The 12 base pair duplication/insertion alteration could be a regulatory mutation. (1 July, 1997)

  M Robledo, A Osorio, C Sentís, J Albertos, L Estevez, J Benítez
• Phosphoserine phosphatase deficiency in a patient with Williams syndrome. (1 July, 1997)

  J Jaeken, M Detheux, J P Fryns, J F Collet, P Alliet, E Van Schaftingen
• A case of apparent trisomy 21 without the Down's syndrome phenotype. (1 July, 1997)

  D Avramopoulos, I Kennerknecht, G Barbi, D Eckert, J M Delabar, C Maunoury, A Hallberg, M B Petersen
• Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree. (1 July, 1997)

  S J Mitchell, T Cole, D H Redford
• A case of Lenz microphthalmia syndrome. (1 July, 1997)

  F F Ozkinay, C Ozkinay, H Yüksel, A Yenigun, G Sapmaz, O Aksu
• The mitochondrial A3243G mutation presenting as severe cardiomyopathy. (1 July, 1997)

  L Vilarinho, F M Santorelli, M J Rosas, C Tavares, M Melo-Pires, S DiMauro
• A report of a child with a deletion (9)(q34.3): a recognisable phenotype? (1 July, 1997)

  H Ayyash, R Mueller, E Maltby, P Horsfield, N Telford, R Tyler
• Marfan syndrome. (1 July, 1997)

  A De Paepe, R C Hennekam