Table of contents

Research Article

• Germline PTEN mutations in Cowden syndrome-like families. (1 November, 1998)

  D J Marsh, P L Dahia, S Caron, J B Kum, I M Frayling, I P Tomlinson, K S Hughes, R A Eeles, S V Hodgson, V A Murday, R Houlston, C Eng
• Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. (1 November, 1998)

  M Longy, V Coulon, B Duboué, A David, M Larrègue, C Eng, P Amati, J L Kraimps, A Bottani, D Lacombe, D Bonneau
• Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (1 November, 1998)

  K Merienne, S Jacquot, E Trivier, S Pannetier, A Rossi, C Scott, A Schinzel, C Castellan, W Kress, A Hanauer
• A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. (1 November, 1998)

  M Jaksch, S Hofmann, S Kleinle, S Liechti-Gallati, D E Pongratz, J Müller-Höcker, K B Jedele, T Meitinger, K D Gerbitz
• The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. (1 November, 1998)

  R C Michaelis, Y Z Du, C E Schwartz
• Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. (1 November, 1998)

  D Trump, P H Dixon, S Mumm, C Wooding, K E Davies, D Schlessinger, M P Whyte, R V Thakker
• Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). (1 November, 1998)

  C E Beesley, E P Young, A Vellodi, B G Winchester
• Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. (1 November, 1998)

  M Sato, S Matsubara, A Miyauchi, H Ohye, H Imachi, K Murao, J Takahara
• Classical lissencephaly syndromes: does the face reflect the brain? (1 November, 1998)

  J E Allanson, D H Ledbetter, W B Dobyns
• Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology? (1 November, 1998)

  M V Zaragoza, E Millie, R W Redline, T J Hassold
• Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study. (1 November, 1998)

  C Stavropoulou, C Mignon, B Delobel, A Moncla, D Depetris, M F Croquette, M G Mattei
• Two 22q telomere deletions serendipitously detected by FISH. (1 November, 1998)

  K S Precht, C M Lese, R P Spiro, P R Huttenlocher, K M Johnston, J C Baker, S L Christian, K Kittikamron, D H Ledbetter
• Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association. (1 November, 1998)

  A Verloes, C Curry, M Jamar, C Herens, P O'Lague, J Marks, P Sarda, P Blanchet
• Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness? (1 November, 1998)

  H L Peters, A Bankier
• A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. (1 November, 1998)

  E S Moreira, M Vainzof, S K Marie, V Nigro, M Zatz, M R Passos-Bueno
• Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis. (1 November, 1998)

  S Pinson, J Yaouanq, A M Jouanolle, B Turlin, H Plauchu
• A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. (1 November, 1998)

  A M Kennan, F C Mansergh, J H Fingert, T Clark, C Ayuso, P F Kenna, P Humphries, G J Farrar
• Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment. (1 November, 1998)

  O Combarros, A Oterino, J Berciano, A Benito, J L Fernández-Luna
• Pitfalls in the diagnosis of mtDNA mutations. (1 November, 1998)

  S Seneca, W Lissens, I Liebaers, P van den Bergh, M C Nassogne, A Benatar, L de Meirleir
• Severe primary pulmonary hypoplasia ("acinar dysplasia") in sibs: a genetically determined mesodermal defect? (1 November, 1998)

  P Moerman, C Vanhole, H Devlieger, J P Fryns
• Coexistence of Gaucher disease type 1 and Joubert syndrome. (1 November, 1998)

  A van Royen-Kerkhof, B T Poll-The, W J Kleijer, O P van Diggelen, J M Aerts, J J Hopwood, F A Beemer