Original articles

	A locus for primary ciliary dyskinesia maps to chromosome 19q M Meeks, A Walne, S Spiden, H Simpson, H Mussaffi-Georgy, H D Hamam, E L Fehaid, M Cheehab, M Al-Dabbagh, S Polak-Charcon, H Blau, A O'Rawe, H M Mitchison, R M Gardiner, and E Chung J Med Genet 2000; 37: 241-244. doi:10.1136/jmg.37.4.241 [Abstract] [Full text] [PDF] [Request Permissions]
	Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 Katrien Janssens, Ruth Gershoni-Baruch, Els Van Hul, Riva Brik, Nuria Guañabens, Nicola Migone, Leon A Verbruggen, Stuart H Ralston, Maryse Bonduelle, Lionel Van Maldergem, Filip Vanhoenacker, and Wim Van Hul J Med Genet 2000; 37: 245-249. doi:10.1136/jmg.37.4.245 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutation screening in Rett syndrome patients Fengqing Xiang, Silvia Buervenich, Piero Nicolao, Mark E S Bailey, Zhiping Zhang, and Maria Anvret J Med Genet 2000; 37: 250-255. doi:10.1136/jmg.37.4.250 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q S Pieke-Dahl, C G Möller, P M Kelley, L M Astuto, C W R J Cremers, M B Gorin, and W J Kimberling J Med Genet 2000; 37: 256-262. doi:10.1136/jmg.37.4.256 [Abstract] [Full text] [PDF] [Request Permissions]
	Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder Geert R Mortier, MaryAnn Weis, Lieve Nuytinck, Lily M King, Douglas J Wilkin, Anne De Paepe, Ralph S Lachman, David L Rimoin, David R Eyre, and Daniel H Cohn J Med Genet 2000; 37: 263-271. doi:10.1136/jmg.37.4.263 [Abstract] [Full text] [PDF] [Request Permissions]
	Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene Karen E Heath, Ian N M Day, and Steve E Humphries J Med Genet 2000; 37: 272-280. doi:10.1136/jmg.37.4.272 [Abstract] [Full text] [PDF] [Request Permissions]
	Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications Dieter Kotzot, Maria-Jose Martinez, Gulseren Bagci, Seher Basaran, Alessandra Baumer, Franz Binkert, Lucrecja Brecevic, Claudio Castellan, Krystyna Chrzanowska, Fabrizio Dutly, Anna Gutkowska, Sibel Berker Karaüzüm, Malgorzata Krajewska-Walasek, Guven Luleci, Peter Miny, Mariluce Riegel, Simone Schuffenhauer, Heide Seidel, and Albert Schinzel J Med Genet 2000; 37: 281-286. doi:10.1136/jmg.37.4.281 [Abstract] [Full text] [PDF] [Request Permissions]
	An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito Bert H J Eussen, Gabriella Bartalini, Lida Bakker, Paolo Balestri, Carmela Di Lucca, Jan O Van Hemel, Hans Dauwerse, Ans M W van den Ouweland, Carrie Ris-Stalpers, Senno Verhoef, Dicky J J Halley, and Alberto Fois J Med Genet 2000; 37: 287-291. doi:10.1136/jmg.37.4.287 [Abstract] [Full text] [PDF] [Request Permissions]
	Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles C M Armour, D E Bulman, and A G W Hunter J Med Genet 2000; 37: 292-296. doi:10.1136/jmg.37.4.292 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Can hair be used to screen for breast cancer? ANTHONY HOWELL, J GÜNTER GROSSMANN, KAN C CHEUNG, LALJI KANBI, D GARETH R EVANS, and S SAMAR HASNAIN J Med Genet 2000; 37: 297-298. doi:10.1136/jmg.37.4.297 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal cancer S ROTH, M JOHANSSON, A LOUKOLA, P PELTOMÄKI, H JÄRVINEN, J-P MECKLIN, and L A AALTONEN J Med Genet 2000; 37: 298-301. doi:10.1136/jmg.37.4.298 [Extract] [Full text] [PDF] [Request Permissions]
	Novel mutation in the MYOC gene in primary open angle glaucoma patients JOSÉ PAULO C VASCONCELLOS, MÔNICA B MELO, VITAL P COSTA, DANIELA M L TSUKUMO, DANIELA S BASSÈRES, SILVANA BORDIN, SARA T O SAAD, and FERNANDO F COSTA J Med Genet 2000; 37: 301-303. doi:10.1136/jmg.37.4.301 [Extract] [Full text] [PDF] [Request Permissions]
	Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome CHRISTOPHER BLANCK, JÜRGEN KOHLHASE, SASKIA ENGELS, PETER BURFEIND, WOLFGANG ENGEL, ARMAND BOTTANI, MILLAN S PATEL, HESTER Y KROES, and JAN M COBBEN J Med Genet 2000; 37: 303-307. doi:10.1136/jmg.37.4.303 [Extract] [Full text] [PDF] [Request Permissions]
	Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AAG shows a severe phenotype M O KILINÇ, V N NINIS, A TOLUN, X ESTIVILL, T CASALS, A SAVOV, E DAGLI, F KARAKOÇ, M DEMIRKOL, G HÜNER, F ÖZKINAY, E DEMIR, J L SECULI, J PENA, C BOUSONO, J FERRER-CALVETE, C CALVO, G GLOVER, and I KREMENSKI J Med Genet 2000; 37: 307-309. doi:10.1136/jmg.37.4.307 [Extract] [Full text] [PDF] [Request Permissions]
	Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene BERARDINO PORFIRIO, ILARIA CHIARELLI, CLAUDIO GRAZIANO, ALESSANDRO MANNONI, AMELIA MORRONE, ENRICO ZAMMARCHI, DANIEL BELTRÁN-VALERO DE BERNABÉ, and SANTIAGO RODRÍGUEZ DE CÓRDOBA J Med Genet 2000; 37: 309-312. doi:10.1136/jmg.37.4.309 [Extract] [Full text] [PDF] [Request Permissions]
	Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy RAVI SAVARIRAYAN, R J MCKINLAY GARDNER, RODNEY D SINCLAIR, MINDY MCDOWELL, and JAMES E CLEAVER J Med Genet 2000; 37: 312-314. doi:10.1136/jmg.37.4.312 [Extract] [Full text] [PDF] [Request Permissions]
	The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600 PETER D TURNPENNY and ROBERT HOLE J Med Genet 2000; 37: 314-315. doi:10.1136/jmg.37.4.314 [Extract] [Full text] [PDF] [Request Permissions]
	Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes S MANOUVRIER-HANU, R BESSON, L COUSIN, C JEANPIERRE, N KACET, M CARTIGNY, L DEVISME, L STORME, B DE MARTINVILLE, and P LEQUIEN J Med Genet 2000; 37: 315-318. doi:10.1136/jmg.37.4.315 [Extract] [Full text] [PDF] [Request Permissions]
	Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling J FABER, A WINTERPACHT, B ZABEL, W GNOINSKI, A SCHINZEL, B STEINMANN, and A SUPERTI-FURGA J Med Genet 2000; 37: 318-320. doi:10.1136/jmg.37.4.318 [Extract] [Full text] [PDF] [Request Permissions]