Original articles

	Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1 Sapna Syngal, Edward A Fox, Charis Eng, Richard D Kolodner, and Judy E Garber J Med Genet 2000; 37: 641-645. doi:10.1136/jmg.37.9.641 [Abstract] [Full text] [PDF] [Request Permissions]
	Recurrent germline mutation in MSH2 arises frequently de novo Darius C Desai, Janet C Lockman, Robert B Chadwick, Xin Gao, Antonio Percesepe, D Gareth R Evans, Michiko Miyaki, Siu Tsan Yuen, Paolo Radice, Eamonn R Maher, Fred A Wright, and Albert de la Chapelle J Med Genet 2000; 37: 646-652. doi:10.1136/jmg.37.9.646 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of PTEN mutations in metastatic melanoma specimens Julide Tok Çelebi, Igor Shendrik, David N Silvers, and Monica Peacocke J Med Genet 2000; 37: 653-657. doi:10.1136/jmg.37.9.653 [Abstract] [Full text] [PDF] [Request Permissions]
	JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype E A Jones, M Clement-Jones, and D I Wilson J Med Genet 2000; 37: 658-662. doi:10.1136/jmg.37.9.658 [Abstract] [Full text] [PDF] [Request Permissions]
	A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25 David A Cabezas, Rachel Slaugh, Fatima Abidi, J Fernando Arena, Roger E Stevenson, Charles E Schwartz, and Herbert A Lubs J Med Genet 2000; 37: 663-668. doi:10.1136/jmg.37.9.663 [Abstract] [Full text] [PDF] [Request Permissions]
	A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I Curt Scharfe, Michael Hauschild, Thomas Klopstock, Antoon J M Janssen, Peter H Heidemann, Thomas Meitinger, and Michaela Jaksch J Med Genet 2000; 37: 669-673. doi:10.1136/jmg.37.9.669 [Abstract] [Full text] [PDF] [Request Permissions]
	Characterisation of the human GFR-3 locus and investigation of the gene in Hirschsprung disease Chinedu I Onochie, Lawrence M Korngut, Judith B Vanhorne, Shirley M Myers, Denise Michaud, and Lois M Mulligan J Med Genet 2000; 37: 674-679. doi:10.1136/jmg.37.9.674 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetics of club foot in Maori and Pacific people Cyril Chapman, N Susan Stott, Ramari Viola Port, and Richard O Nicol J Med Genet 2000; 37: 680-683. doi:10.1136/jmg.37.9.680 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment Tim P Hutchin, Mick J Parker, Ian D Young, Adrian C Davis, Louise J Pulleyn, Jayne Deeble, Nicholas J Lench, Alex F Markham, and Robert F Mueller J Med Genet 2000; 37: 692-694. doi:10.1136/jmg.37.9.692 [Abstract] [Full text] [PDF] [Request Permissions]
	The ACE gene and Alzheimer's disease susceptibility Yolanda Narain, Agustin Yip, Terence Murphy, Carol Brayne, Douglas Easton, John Grimley Evans, John Xuereb, Nigel Cairns, Margaret M Esiri, Robert A Furlong, and David C Rubinsztein J Med Genet 2000; 37: 695-697. doi:10.1136/jmg.37.9.695 [Abstract] [Full text] [PDF] [Request Permissions]

Clinical genetics in practice

	Evidence based medicine in practice: lessons from a Scottish clinical genetics project Harry Campbell, Nicola Bradshaw, Rosemary Davidson, John Dean, David Goudie, Susan Holloway, and Mary Porteous J Med Genet 2000; 37: 684-691. doi:10.1136/jmg.37.9.684 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Constitutional WT1 mutations correlate with clinical features in children with progressive nephropathy AYAKO TAKATA, HARUHITO KIKUCHI, RYUJI FUKUZAWA, SHUICHI ITO, MASATAKA HONDA, and JUN-ICHI HATA J Med Genet 2000; 37: 698-701. doi:10.1136/jmg.37.9.698 [Extract] [Full text] [PDF] [Request Permissions]
	Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia AIDAN J MARSH, DIANA WELLESLEY, DAVID BURGE, MARK ASHTON, CAROLINE E BROWNE, NICHOLAS R DENNIS, and I KAREN TEMPLE J Med Genet 2000; 37: 701-704. doi:10.1136/jmg.37.9.701 [Extract] [Full text] [PDF] [Request Permissions]
	Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations CLARE E BEESLEY, ELISABETH P YOUNG, ASHOK VELLODI, and BRYAN G WINCHESTER J Med Genet 2000; 37: 704-707. doi:10.1136/jmg.37.9.704 [Extract] [Full text] [PDF] [Request Permissions]
	Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts TOSHIYUKI YAMAMOTO, HARUAKI NINOMIYA, MICHIKA MATSUMOTO, YASUTOSHI OHTA, EIJI NANBA, YUKIE TSUTSUMI, KAZUHIRO YAMAKAWA, GILLES MILLAT, MARIE T VANIER, PETER G PENTCHEV, and KOUSAKU OHNO J Med Genet 2000; 37: 707-712. doi:10.1136/jmg.37.9.707 [Extract] [Full text] [PDF] [Request Permissions]
	Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene ACHILLE IOLASCON, ALESSANDRA MELONI, BRIGIDA COPPOLA, and MARIA CRISTINA ROSATELLI J Med Genet 2000; 37: 712-713. doi:10.1136/jmg.37.9.712 [Extract] [Full text] [PDF] [Request Permissions]
	I705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels KAREN E HEATH, ROS A WHITTALL, GEORGE J MILLER, and STEVE E HUMPHRIES J Med Genet 2000; 37: 713-715. doi:10.1136/jmg.37.9.713 [Extract] [Full text] [PDF] [Request Permissions]
	Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley- Ruvalcaba syndrome without germline PTEN mutations PATRICIA M DAHIA, OLIVER GIMM, HONGOBO CHI, DEBBIE J MARSH, PAUL R REYNOLDS, and CHARIS ENG J Med Genet 2000; 37: 715-717. doi:10.1136/jmg.37.9.715 [Extract] [Full text] [PDF] [Request Permissions]
	Mosaicism in Alport syndrome and genetic counselling MIRELLA BRUTTINI, FRANCESCA VITELLI, ILARIA MELONI, GIUSEPPE RIZZARI, MARIO DELLA VOLPE, GIANNA MAZZUCCO, MARIO DE MARCHI, and ALESSANDRA RENIERI J Med Genet 2000; 37: 717-719. doi:10.1136/jmg.37.9.717 [Extract] [Full text] [PDF] [Request Permissions]
	Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? P A TERHAL, M G E M AUSEMS, Y VAN BEVER, L P TEN KATE, P F DIJKSTRA, and G M C KUIJPERS J Med Genet 2000; 37: 719-721. doi:10.1136/jmg.37.9.719 [Extract] [Full text] [PDF] [Request Permissions]
	Pili torti et canaliculi and agenesis of the teeth: report of a new "pure" hair-tooth ectodermal dysplasia in a Norwegian family EDGAR SELVAAG J Med Genet 2000; 37: 721-723. doi:10.1136/jmg.37.9.721 [Extract] [Full text] [PDF] [Request Permissions]
	Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q PETER MICHAEL KROISEL, ERWIN PETEK, and KLAUS WAGNER J Med Genet 2000; 37: 723-725. doi:10.1136/jmg.37.9.723 [Extract] [Full text] [PDF] [Request Permissions]
	Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb R BELL, G BRICE, A H CHILD, V A MURDAY, S MANSOUR, C J SANDY, J R O COLLIN, P MORTIMER, D F CALLEN, K BURNAND, and S JEFFERY J Med Genet 2000; 37: 725. doi:10.1136/jmg.37.9.725 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Craniosynostosis. Diagnosis, evaluation and management. WILLIE REARDON J Med Genet 2000; 37: 727. doi:10.1136/jmg.37.9.727 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease JENS PLASCHKE, TOBIAS COMMER, CHRISTOPH JACOBI, HANS K SCHACKERT, and JENNY CHANG-CLAUDE J Med Genet 2000; 37: e17. doi:10.1136/jmg.37.9.e17 [Extract] [Full text] [PDF] [Request Permissions]
	Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy LEON G D'CRUZ, CHRISTINA BABOONIAN, HAZEL E PHILLIMORE, ROHAN TAYLOR, PERRY M ELLIOTT, AMANDA VARNAVA, FERGUS DAVISON, WILLIAM J MCKENNA, and NICHOLAS D CARTER J Med Genet 2000; 37: e18. doi:10.1136/jmg.37.9.e18 [Extract] [Full text] [PDF] [Request Permissions]
	Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay KENJIRO KOSAKI, RIKA KOSAKI, WENDY P ROBINSON, WILLIAM J CRAIGEN, LISA G SHAFFER, SEIJI SATO, and NOBUTAKE MATSUO J Med Genet 2000; 37: e19. doi:10.1136/jmg.37.9.e19 [Extract] [Full text] [PDF] [Request Permissions]
	Mapping of the human genes (SLC23A2 and SLC23A1) coding for vitamin C transporters 1 and 2 (SVCT1 and SVCT2) to 5q23 and 20p12, respectively CONSTANTINE A STRATAKIS, SUSAN E TAYMANS, RUSHAD DARUWALA, JIAN SONG, and MARK LEVINE J Med Genet 2000; 37: e20. doi:10.1136/jmg.37.9.e20 [Extract] [Full text] [PDF] [Request Permissions]
	Deletion (2)(p14p15) in a child with severe neurodevelopmental delay ISAM M AMIR, KHALIL I AL-TAWIL, and MUNEEF M AL-HATHAL J Med Genet 2000; 37: e21. doi:10.1136/jmg.37.9.e21 [Extract] [Full text] [PDF] [Request Permissions]
	Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22 GHAZALA MIRZA, KIYOSHI IMAIZUMI, and JIANNIS RAGOUSSIS J Med Genet 2000; 37: e22. doi:10.1136/jmg.37.9.e22 [Extract] [Full text] [PDF] [Request Permissions]
	DiGeorge syndrome with discordant phenotype in monozygotic twins G HILLEBRAND, R SIEBERT, E SIMEONI, and R SANTER J Med Genet 2000; 37: e23. doi:10.1136/jmg.37.9.e23 [Extract] [Full text] [PDF] [Request Permissions]
	Proximal 10q trisomy: a new case with anal atresia F W F LAM, W K CHAN, S T S LAM, W P CHU, and N S KWONG J Med Genet 2000; 37: e24. doi:10.1136/jmg.37.9.e24 [Extract] [Full text] [PDF] [Request Permissions]
	Achondroplasia and nail-patella syndrome: the compound phenotype M J WRIGHT, M C AIN, M V CLOUGH, G A BELLUS, O HURKO, and I MCINTOSH J Med Genet 2000; 37: e25. doi:10.1136/jmg.37.9.e25 [Extract] [Full text] [PDF] [Request Permissions]