Table of contents

Research Article

• BRCA1 mutations in a selected series of breast/ovarian cancer patients. (1 September, 1996)

  A M Garvin, M Spycher, M Häner, J Torhorst, H Müller, R Herrmann, C Rochlitz, W Weber, R J Scott
• Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. (1 September, 1996)

  N J Froggatt, C Brassett, D J Koch, D G Evans, S V Hodgson, B A Ponder, E R Maher
• Attitudes towards cancer predictive testing and transmission of information to the family. (1 September, 1996)

  C Julian-Reynier, F Eisinger, P Vennin, F Chabal, Y Aurran, C Noguès, Y J Bignon, M Machelard-Roumagnac, C Maugard-Louboutin, D Serin, B Blanc, P Orsoni, H Sobol
• Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. (1 September, 1996)

  M Decruyenaere, G Evers-Kiebooms, A Boogaerts, J J Cassiman, T Cloostermans, K Demyttenaere, R Dom, J P Fryns, H Van den Berghe
• A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. (1 September, 1996)

  D Wilkes, P Rutland, L J Pulleyn, W Reardon, C Moss, J P Ellis, R M Winter, S Malcolm
• Clinical and genetic heterogeneity of hypochondroplasia. (1 September, 1996)

  F Rousseau, J Bonaventure, L Legeai-Mallet, H Schmidt, J Weissenbach, P Maroteaux, A Munnich, M Le Merrer
• Genetic heterogeneity of Usher syndrome type II in a Dutch population. (1 September, 1996)

  S Pieke-Dahl, A van Aarem, A Dobin, C W Cremers, W J Kimberling
• A clinical severity grading scale for Marfan syndrome. (1 September, 1996)

  J R Gray, S J Davies
• Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. (1 September, 1996)

  M Wang, P Kishnani, M Decker-Phillips, S G Kahler, Y T Chen, M Godfrey
• Rett syndrome, classical and atypical: genealogical support for common origin. (1 September, 1996)

  H O Akesson, B Hagberg, J Wahlström
• A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities. (1 September, 1996)

  L Telvi, A Ion, J C Carel, I Desguerre, M Piraud, A M Boutin, J Feingold, G Ponsot, M Fellous, K McElreavey
• Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. (1 September, 1996)

  E K Pivnick, G V Velagaleti, R S Wilroy, M E Smith, S R Rose, R E Tipton, A T Tharapel
• Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). (1 September, 1996)

  P J Morrison, N C Nevin
• Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases. (1 September, 1996)

  L Martorell, I Illa, J Rosell, J Benitez, M J Sedano, M Baiget
• Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene. (1 September, 1996)

  R Santamaria, S Tamasi, G Del Piano, G Sebastio, G Andria, C Borrone, G Faldella, P Izzo, F Salvatore
• Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter. (1 September, 1996)

  M Y Yip, H MacKenzie, A Kovacic, A McIntosh
• Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation. (1 September, 1996)

  R Wallerstein, L Gibas, C E Anderson, L Jackson
• A 3 1/2 year old girl with distal trisomy 19q defined by FISH. (1 September, 1996)

  C James, A Jauch, L Robson, N Watson, A Smith
• Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing. (1 September, 1996)

  G Rumsby, A F Massoud, C Avey, C G Brook
• Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation. (1 September, 1996)

  C Kwok, P N Goodfellow, J R Hawkins
• First report of CFTR mutations in black cystic fibrosis patients of southern African origin. (1 September, 1996)

  S Carles, M Desgeorges, A Goldman, R Thiart, C Guittard, C A Kitazos, T J de Ravel, A T Westwood, M Claustres, M Ramsay
• Psychological aspects of von Recklinghausen neurofibromatosis (NF1) (1 September, 1996)

  K N North
• The male excess in Down's syndrome. (1 September, 1996)

  W H James
• Predictive genetic testing in children. (1 September, 1996)

  A C Berry