Genetics

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
Daniel J Hampshire, Emma Roberts, Yanick Crow, Jacquelyn Bond, Ammar Mubaidin, Abdul-Latif Wriekat, Amir Al-Din, C Geoffrey Woods

Journal of Medical Genetics Oct 2001, 38 (10) 680-682; DOI: 10.1136/jmg.38.10.680
Male breast cancer in Cowden syndrome patients with germlinePTEN mutations
James D Fackenthal, Deborah J Marsh, Anne-Louise Richardson, Shelly A Cummings, Charis Eng, Bruce G Robinson, Olufunmilayo I Olopade

Journal of Medical Genetics Mar 2001, 38 (3) 159-164; DOI: 10.1136/jmg.38.3.159
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients
Y Zhang, T Lundgren, S Renvert, D N Tatakis, E Firatli, C Uygur, P S Hart, M C Gorry, J J Marks, T C Hart

Journal of Medical Genetics Feb 2001, 38 (2) 96-101; DOI: 10.1136/jmg.38.2.96
Complementation studies in the cblAclass of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)
David Watkins, Nora Matiaszuk, David S Rosenblatt

Journal of Medical Genetics Jul 2000, 37 (7) 510-513; DOI: 10.1136/jmg.37.7.510
Mutational analysis using oligonucleotide microarrays
Joseph G Hacia, Francis S Collins

Journal of Medical Genetics Oct 1999, 36 (10) 730-736; DOI: 10.1136/jmg.36.10.730
A new gene (DYX3) for dyslexia is located on chromosome 2
Toril Fagerheim, Peter Raeymaekers, Finn Egil Tønnessen, Marit Pedersen, Lisbeth Tranebjærg, Herbert A Lubs

Journal of Medical Genetics Sep 1999, 36 (9) 664-669; DOI: 10.1136/jmg.36.9.664
Mutational analysis of the N-ras,p53,p16^INK4a ,CDK4, and MC1R genes in human congenital melanocytic naevi
Thilo Papp, Heidi Pemsel, Regina Zimmermann, Ralf Bastrop, Dieter G Weiss, Dietmar Schiffmann

Journal of Medical Genetics Aug 1999, 36 (8) 610-614; DOI: 10.1136/jmg.36.8.610
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region
Osamu Miyoshi, Tatsuro Kondoh, Hiroshi Taneda, Kojiro Otsuka, Tadashi Matsumoto, Norio Niikawa

Journal of Medical Genetics Apr 1999, 36 (4) 326-329; DOI: 10.1136/jmg.36.4.326
Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene
Raquel Rabionet, Xavier Estivill

Journal of Medical Genetics Mar 1999, 36 (3) 260-261; DOI: 10.1136/jmg.36.3.260
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
Susanna Bunge, Astrid Knigge, Cordula Steglich, Wim J Kleijer, Otto P van Diggelen, Michael Beck, Andreas Gal

Journal of Medical Genetics Jan 1999, 36 (1) 28-32; DOI: 10.1136/jmg.36.1.28

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