Review articles

	Neurofibromatosis type 2 D Gareth R Evans, M Sainio, and Michael E Baser J Med Genet 2000; 37: 897-904. doi:10.1136/jmg.37.12.897 [Abstract] [Full text] [PDF] [Request Permissions]
	Chromatin modification and disease Colin A Johnson J Med Genet 2000; 37: 905-915. doi:10.1136/jmg.37.12.905 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

	The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500) Wim Wuyts, Erna Cleiren, Tessa Homfray, Alberto Rasore-Quartino, Filip Vanhoenacker, and Wim Van Hul J Med Genet 2000; 37: 916-920. doi:10.1136/jmg.37.12.916 [Abstract] [Full text] [PDF] [Request Permissions]
	Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome Jacqueline R Engel, Alan Smallwood, Antonita Harper, Michael J Higgins, Mitsuo Oshimura, Wolf Reik, Paul N Schofield, and Eamonn R Maher J Med Genet 2000; 37: 921-926. doi:10.1136/jmg.37.12.921 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients P S Hart, Y Zhang, E Firatli, C Uygur, M Lotfazar, M D Michalec, J J Marks, X Lu, B J Coates, W K Seow, R Marshall, D Williams, J B Reed, J T Wright, and T C Hart J Med Genet 2000; 37: 927-932. doi:10.1136/jmg.37.12.927 [Abstract] [Full text] [PDF] [Request Permissions]
	Growth in North American white children with neurofibromatosis 1 (NF1) J Szudek, P Birch, J M Friedman, and the National Neurofibromatosis Foundation International Database Participants J Med Genet 2000; 37: 933-938. doi:10.1136/jmg.37.12.933 [Abstract] [Full text] [PDF] [Request Permissions]
	Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only F J Hes, S McKee, M J B Taphoorn, P Rehal, R B van der Luijt, R McMahon, J J van der Smagt, D Dow, R A Zewald, J Whittaker, C J M Lips, F MacDonald, P L Pearson, and E R Maher J Med Genet 2000; 37: 939-943. doi:10.1136/jmg.37.12.939 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2) D G R EVANS, V NEWTON, W NEARY, M E BASER, A WALLACE, R MACLEOD, J P R JENKINS, J GILLESPIE, and R T RAMSDEN J Med Genet 2000; 37: 944-947. doi:10.1136/jmg.37.12.944 [Extract] [Full text] [PDF] [Request Permissions]
	Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36 MICHAEL BADZIOCH, ROS EELES, GILLES LEBLANC, WILLIAM D FOULKES, GRAHAM GILES, STEVE EDWARDS, DAVID GOLDGAR, JOHN L HOPPER, D T BISHOP, PAL MØLLER, KETIL HEIMDAL, DOUGLAS EASTON, THE CRC/BPG UK FAMILIAL PROSTATE CANCER STUDY COORDINATORS AND COLLABORATORS, THE EU BIOMED COLLABORATORS, and JACQUES SIMARD J Med Genet 2000; 37: 947-949. doi:10.1136/jmg.37.12.947 [Extract] [Full text] [Request Permissions]
	Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects GARY L JOHANNING, T TAMURA, KELLEY E JOHNSTON, and KATHARINE D WENSTROM J Med Genet 2000; 37: 949-951. doi:10.1136/jmg.37.12.949 [Extract] [Full text] [Request Permissions]
	Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation JOHANNA MOOLMAN-SMOOK, WILLEM DE LANGE, VALERIE CORFIELD, and PAUL BRINK J Med Genet 2000; 37: 951-956. doi:10.1136/jmg.37.12.951 [Extract] [Full text] [Request Permissions]
	Germline and somatic mosaicism in achondroplasia SHIRLEY HENDERSON, DAVID SILLENCE, JOHN LOUGHLIN, BRUCE BENNETTS, and BRYAN SYKES J Med Genet 2000; 37: 956-958. doi:10.1136/jmg.37.12.956 [Extract] [Full text] [Request Permissions]
	Achondroplasia with the FGFR3 1138ga (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father DIANA SOBETZKO, SUZANNE BRAGA, ANNA RÜDEBERG, and ANDREA SUPERTI-FURGA J Med Genet 2000; 37: 958-959. doi:10.1136/jmg.37.12.958 [Extract] [Full text] [Request Permissions]
	Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia STEPHEN P ROBERTSON, DEBORAH J SHEARS, PAUL OEI, ROBIN M WINTER, PETER J SCAMBLER, SALIM AFTIMOS, and RAVI SAVARIRAYAN J Med Genet 2000; 37: 959-964. doi:10.1136/jmg.37.12.959 [Extract] [Full text] [Request Permissions]
	Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl LUKRECIJA BRECEVIC, SEHER BASARAN, FABRIZIO DUTLY, BENNO RÖTHLISBERGER, and ALBERT SCHINZEL J Med Genet 2000; 37: 964-967. doi:10.1136/jmg.37.12.964 [Extract] [Full text] [Request Permissions]
	The first three mosaic cri du chat syndrome patients with two rearranged cell lines C PERFUMO, P CERRUTI MAINARDI, A CALÌ, G COUCOURDE, F ZARA, S CAVANI, J OVERHAUSER, F DAGNA BRICARELLI, and M PIERLUIGI J Med Genet 2000; 37: 967-972. doi:10.1136/jmg.37.12.967 [Extract] [Full text] [Request Permissions]
	Abnormal sex differentiation and multiple congenital abnormalities in a subject harbouring an apparently balanced (6;8) translocation A ION, H COPIN, M BARNOUX, C AJZENBERG, A LESOURD, O CUSSENOT, J LUBETZKI, and L TELVI J Med Genet 2000; 37: 972-974. doi:10.1136/jmg.37.12.972 [Extract] [Full text] [Request Permissions]
	Distal trisomy 2p and arachnodactyly D J STALKER, S VIGNESWAREN, P M SHARPLES, and P W LUNT J Med Genet 2000; 37: 974-976. doi:10.1136/jmg.37.12.974 [Extract] [Full text] [Request Permissions]

Electronic letters

	Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome CHING-WAN LAM, WAI-LAN YEUNG, CHUNG-HUNG KO, PRISCILLA M K POON, SUI-FAN TONG, KWOK-YIN CHAN, IVAN F M LO, LISA Y S CHAN, JOANNIE HUI, VIRGINIA WONG, CHI-PUI PANG, Y M DENNIS LO, and TAI-FAI FOK J Med Genet 2000; 37: e41. doi:10.1136/jmg.37.12.e41 [Extract] [Full text] [PDF] [Request Permissions]
	2157delG: a frequent mutation in BRCA2 missed by PTT J F DAVIES, E K REDMOND, M C COX, F I LALLOO, R ELLES, and D G R EVANS J Med Genet 2000; 37: e42. doi:10.1136/jmg.37.12.e42 [Extract] [Full text] [PDF] [Request Permissions]
	A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland M POYHONEN J Med Genet 2000; 37: e43. doi:10.1136/jmg.37.12.e43 [Extract] [Full text] [PDF] [Request Permissions]
	Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status SUSANNE MERGENTHALER, KATJA EGGERMANN, JÜRGEN TOMIUK, MICHAEL B RANKE, HARTMUT A WOLLMANN, and THOMAS EGGERMANN J Med Genet 2000; 37: e44. doi:10.1136/jmg.37.12.e44 [Extract] [Full text] [PDF] [Request Permissions]
	Recurrence risks in undiagnosed mental retardation GILLIAN TURNER and MICHAEL PARTINGTON J Med Genet 2000; 37: e45. doi:10.1136/jmg.37.12.e45 [Extract] [Full text] [PDF] [Request Permissions]
	Bardet-Biedl and Cohen syndromes: differential diagnostic criteria METTE WARBURG, RUTH RIISE, PHILIP BEALES, and FRANCES FLINTER J Med Genet 2000; 37: e46. doi:10.1136/jmg.37.12.e46 [Extract] [Full text] [PDF] [Request Permissions]
	CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping DORIT LEV, ORLY NAKAR, IRIT BAR-AM, ALEXANDER ZUDIK, NATHAN WATEMBERG, SHARON FINKELSTIEN, NIRIT KATZIN, and TALLY LERMAN-SAGIE J Med Genet 2000; 37: e47. doi:10.1136/jmg.37.12.e47 [Extract] [Full text] [PDF] [Request Permissions]