Journal of Medical Genetics: 37 (2)

Commentary

Of palms, soles, and gums (1 February, 2000)
ROBERT J GORLIN

Review article

Genetic susceptibility to age related macular degeneration (1 February, 2000)
John R W Yates, Anthony T Moore

Original articles

Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C (1 February, 2000)
T C Hart, P S Hart, M D Michalec, Y Zhang, E Firatli, T E Van Dyke, A Stabholz, A Zlorogorski, L Shapira, W A Soskolne
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation (1 February, 2000)
T C Hart, P S Hart, M D Michalec, Y Zhang, M L Marazita, M Cooper, O M Yassin, M Nusier, S Walker
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations (1 February, 2000)
Rita Barresi, Claudia Di Blasi, Tiziana Negri, Raffaella Brugnoni, Andrea Vitali, Giorgio Felisari, Antonio Salandi, Sergio Daniel, Ferdinando Cornelio, Lucia Morandi, Marina Mora
Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer (1 February, 2000)
Katja Aktan-Collan, Jukka-Pekka Mecklin, Albert de la Chapelle, Päivi Peltomäki, Antti Uutela, Helena Kääriäinen
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH (1 February, 2000)
Pawel Stankiewicz, Ewa Bocian, Krystyna Jakubów-Durska, Ewa Obersztyn, Ewa Lato, Heike Starke, Katarzyna Mroczek, Tadeusz Mazurczak
A supernumerary marker chromosome originating from two different regions of chromosome 18 (1 February, 2000)
Benno Röthlisberger, Krystyna Chrzanowska, Damina Balmer, Mariluce Riegel, Albert Schinzel

Short reports

5p14 deletion associated with microcephaly and seizures (1 February, 2000)
Elizabeth I Johnson, R Catrinel Marinescu, Hope H Punnett, Beverly Tenenholz, Joan Overhauser
A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome (1 February, 2000)
Dmitry Tentler, Peter Gustavsson, Göran Elinder, Ole Eklöf, Laurie Gordon, Ariane Mandel, Niklas Dahl
First description of germline mosaicism in familial hypertrophic cardiomyopathy (1 February, 2000)
Jean-François Forissier, Pascale Richard, Sylvain Briault, Céline Ledeuil, Olivier Dubourg, Bernard Charbonnier, Lucie Carrier, Claude Moraine, Gisèle Bonne, Michel Komajda, Ketty Schwartz, Bernard Hainque

Perspective

Shared decision making and non-directiveness in genetic counselling (1 February, 2000)
Glyn Elwyn, Jonathon Gray, Angus Clarke

Letters to the editor

The CAG repeat within the androgen receptor gene in male breast cancer patients (1 February, 2000)
I E YOUNG, K M KURIAN, M A F MACKENZIE, I H KUNKLER, B B COHEN, M L HOOPER, A H WYLLIE, C M STEEL
Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father (1 February, 2000)
R J HASTINGS, E C SVENNEVIK, B SETTERFIELD, D WELLS, J D A DELHANTY, H MACKINNON
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome (1 February, 2000)
AHMAD S TEEBI
Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)
(1 February, 2000)
MICHEL BAHUAU, INGRID LAURENDEAU, ANNA PELET, BRIGITTE ASSOULINE, THIERRY LAMIREAU, LAURENCE TAINE, BRIGITTE LE BAIL, PIERRE VERGNES, SERGE GALLET, MICHEL VIDAUD, STANISLAS LYONNET, DIDIER LACOMBE, DOMINIQUE VIDAUD
Identification of novel alleles at a polymorphic microsatellite repeat region in the human NRAMP1 gene promoter: analysis of allele frequencies in primary biliary cirrhosis
(1 February, 2000)
A M GRAHAM, M M DOLLINGER, S E M HOWIE, D J HARRISON
No evidence for imprinting in distal 18q (1 February, 2000)
ROBERT MAIWALD, JOAN OVERHAUSER, FRANCO LACCONE
Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex (1 February, 2000)
FINBAR J K O'CALLAGHAN, MICHAEL NOAKES, JOHN P OSBORNE
Clinical geneticists' attitudes and practice towards testing for breast cancer susceptibility genes (1 February, 2000)
ANNEKE M LUCASSEN, RICHARD S HOULSTON

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Table of contents

February 2000 - Volume 37 - 2

Commentary

Review article

Original articles

Short reports

Perspective

Letters to the editor

Issue Information

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Table of contents

February 2000 - Volume 37 - 2

Commentary

Review article

Original articles

Short reports

Perspective

Letters to the editor

Issue Information