Table of contents

Research Article

• A simple and efficient method for microdissection and microFISH. (1 April, 1998) Free

  J J Engelen, J C Albrechts, G J Hamers, J P Geraedts
• Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. (1 April, 1998) Free

  C D Fenske, S Jeffery, J L Weber, R S Houlston, J V Leonard, P J Lee
• Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? (1 April, 1998) Free

  J J Jonsson, A Renieri, P G Gallagher, C E Kashtan, E M Cherniske, M Bruttini, M Piccini, F Vitelli, A Ballabio, B R Pober
• Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. (1 April, 1998) Free

  S Ala-Mello, E M Sankila, O Koskimies, A de la Chapelle, H Kääriäinen
• Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. (1 April, 1998) Free

  F Martínez, M Tomás, J M Millán, A Fernández, F Palau, F Prieto
• Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome. (1 April, 1998) Free

  D T Bonthron, N Dunlop, D G Barr, A A El Sanousi, L I Al-Gazali
• Myotonia congenita in northern Finland: an epidemiological and genetic study. (1 April, 1998) Free

  P Baumann, V V Myllylä, J Leisti
• Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq. (1 April, 1998) Free

  F Xiang, Z Zhang, A Clarke, P Joseluiz, N Sakkubai, B Sarojini, C D Delozier-Blanchet, I Hansmann, L Edström, M Anvret
• Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. (1 April, 1998) Free

  I Rivera, P Leandro, U Lichter-Konecki, I Tavares de Almeida, M C Lechner
• Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. (1 April, 1998) Free

  M C Speer, J M Gilchrist, J M Stajich, P C Gaskell, C A Westbrook, S K Horrigan, L Bartoloni, L H Yamaoka, W K Scott, M A Pericak-Vance
• Contracting for clinical genetic services: the Welsh model. (1 April, 1998) Free

  H E Hughes, J K Alderman, M Krawczak, C Rogers
• The dystonias. (1 April, 1998) Free

  P R Jarman, T T Warner
• Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations. (1 April, 1998) Free

  I A Glass, P Stormer, P T Oei, E Hacking, P D Cotter
• Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. (1 April, 1998) Free

  C J van Asperen, W C Overweg-Plandsoen, M H Cnossen, D A van Tijn, R C Hennekam
• Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. (1 April, 1998) Free

  E K Pivnick, W L Furman, G V Velagaleti, J J Jenkins, N A Chase, R C Ribeiro
• Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy. (1 April, 1998) Free

  J P Fryns, C Van Lingen, K Devriendt, E Legius, P Raus
• Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. (1 April, 1998) Free

  M E Porteous, L Strain, L J Logie, R M Herd, E C Benton
• Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. (1 April, 1998) Free

  K L Choi, L A McNoe, M C French, P J Guilford, M R Eccles
• Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene. (1 April, 1998) Free

  J Müller, B Gondos, S Kosugi, T Mori, A Shenker
• Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation. (1 April, 1998) Free

  K Nagai, M Nagao, M Nagao, S Yanai, K Minagawa, Y Takahashi, Y Takekoshi, A Ishizaka, Y Matsuzono, O Kobayashi, T Itagaki
• Craniosynostosis and chromosome 22q11 deletion. (1 April, 1998) Free

  J C Dean, D C De Silva, W Reardon
• Spectrum of clinical features associated with interstitial chromosome 22q11 deletions. (1 April, 1998) Free

  M Di Rocco, A Buocompagni, P Picco, S Vignola, C Borrone, G Gimelli
• Clinical features of chromosome 22q11 deletion. (1 April, 1998) Free

  A Hunter
• Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome. (1 April, 1998) Free

  J M Saraiva, E Matoso, I Marques
• A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS. (1 April, 1998) Free

  P M Czarnecki, D L Van Dyke, S Vats, G L Feldman
• New overgrowth syndrome and FGFR3 dosage effect. (1 April, 1998) Free

  M M Cohen, G Neri
• Robinow syndrome. (1 April, 1998) Free

  M Van Steensel