Review articles

	The Smith-Lemli-Opitz syndrome Richard I Kelley and Raoul C M Hennekam J Med Genet 2000; 37: 321-335. doi:10.1136/jmg.37.5.321 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers Immaculata De Vivo, Dorota M Gertig, Satoru Nagase, Susan E Hankinson, Robert O'Brien, Frank E Speizer, Ramon Parsons, and David J Hunter J Med Genet 2000; 37: 336-341. doi:10.1136/jmg.37.5.336 [Abstract] [Full text] [PDF] [Request Permissions]
	Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer Bjarnveig Ingibjörg Sigbjörnsdottir, Gisli Ragnarsson, Bjarni Agnar Agnarsson, Chen Huiping, Rosa Björk Barkardottir, Valgardur Egilsson, and Sigurdur Ingvarsson J Med Genet 2000; 37: 342-347. doi:10.1136/jmg.37.5.342 [Abstract] [Full text] [PDF] [Request Permissions]
	Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes Emma R Woodward, Steven C Clifford, Dewi Astuti, Nabeel A Affara, and Eamonn R Maher J Med Genet 2000; 37: 348-353. doi:10.1136/jmg.37.5.348 [Abstract] [Full text] [PDF] [Request Permissions]
	Efficacy of a touchscreen computer based family cancer history questionnaire and subsequent cancer risk assessment Judith Westman, Heather Hampel, and Teresa Bradley J Med Genet 2000; 37: 354-360. doi:10.1136/jmg.37.5.354 [Abstract] [Full text] [PDF] [Request Permissions]
	A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families Pervin Dinçer, Zuhal Akçören, Ercan Demir, Isabelle Richard, Özgür Sancak, Gülsev Kale, Sencan Özme, Ayse Karaduman, Ersin Tan, J Andoni Urtizberea, Jacques S Beckmann, and Haluk Topaloglu J Med Genet 2000; 37: 361-367. doi:10.1136/jmg.37.5.361 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss Laurette Morlé, Muriel Bozon, Nicole Alloisio, Philippe Latour, Antoon Vandenberghe, Henri Plauchu, Lionel Collet, Patrick Edery, Jacqueline Godet, and Geneviève Lina-Granade J Med Genet 2000; 37: 368-370. doi:10.1136/jmg.37.5.368 [Abstract] [Full text] [PDF] [Request Permissions]
	Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation Lieve Nuytinck, Turgut Tükel, Hülya Kayserili, Memnune Yüksel Apak, and Anne De Paepe J Med Genet 2000; 37: 371-375. doi:10.1136/jmg.37.5.371 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) BARBARA BURWINKEL, M STUART TANNER, and MANFRED W KILIMANN J Med Genet 2000; 37: 376-377. doi:10.1136/jmg.37.5.376 [Extract] [Full text] [PDF] [Request Permissions]
	Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity KATHY PRITCHARD-JONES, NAZNEEN RAHMAN, MARY GERRARD, DICK VARIEND, and LINDA KING-UNDERWOOD J Med Genet 2000; 37: 377-380. doi:10.1136/jmg.37.5.377 [Extract] [Full text] [PDF] [Request Permissions]
	Silver-Russell syndrome and ring chromosome 7 EMMA L WAKELING, MEGAN HITCHINS, PHILIP STANIER, DAVID MONK, GUDRUN E MOORE, and MICHAEL A PREECE J Med Genet 2000; 37: 380. doi:10.1136/jmg.37.5.380 [Extract] [Full text] [PDF] [Request Permissions]
	Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma P-S GAO, X-Q MAO, M H ROBERTS, Y ARINOBU, M AKAIWA, T ENOMOTO, Y DAKE, M KAWAI, S SASAKI, N HAMASAKI, K IZUHARA, T SHIRAKAWA, and J M HOPKIN J Med Genet 2000; 37: 380-382. doi:10.1136/jmg.37.5.380a [Extract] [Full text] [PDF] [Request Permissions]
	No linkage or association of the IL-4R gene Q576R mutation with atopic asthma in Italian families CRISTINA PATUZZO, ELISABETTA TRABETTI, GIOVANNI MALERBA, LAURA CARMEN MARTINATI, ATTILIO L BONER, LYDIA PESCOLLDERUNGG, GIOVANNA ZANONI, and PIER FRANCO PIGNATTI J Med Genet 2000; 37: 382-384. doi:10.1136/jmg.37.5.382 [Extract] [Full text] [PDF] [Request Permissions]
	Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r) DAVID A R BESSANT, ANNETTE M PAYNE, BRYAN E SNOW, GUILLERMO ANTIÑOLO, S QASIM MEHDI, ALAN C BIRD, DAVID P SIDEROVSKI, and SHOMI S BHATTACHARYA J Med Genet 2000; 37: 384-387. doi:10.1136/jmg.37.5.384 [Extract] [Full text] [PDF] [Request Permissions]
	Incidence and molecular mechanism of aberrant splicing owing to a GC splice acceptor site mutation causing Smith-Lemli-Opitz syndrome H R WATERHAM, W OOSTHEIM, G J ROMEIJN, R J A WANDERS, and R C M HENNEKAM J Med Genet 2000; 37: 387-389. doi:10.1136/jmg.37.5.387 [Extract] [Full text] [PDF] [Request Permissions]
	Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1 HANS KNOBLAUCH, GUNDULA THIEL, SIGRID TINSCHERT, HANNELORE KÖRNER, CORNELIA TENNSTEDT, RABIH CHAOUI, JÜRGEN KOHLHASE, CHRISTA DIXKENS, and CRISTOPHER BLANCK J Med Genet 2000; 37: 389-392. doi:10.1136/jmg.37.5.389 [Extract] [Full text] [PDF] [Request Permissions]
	Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome SHINJI SAITOH, NAOKI OISO, TAKAHITO WADA, OSAMU NARAZAKI, and KAZUYOSHI FUKAI J Med Genet 2000; 37: 392-394. doi:10.1136/jmg.37.5.392 [Extract] [Full text] [PDF] [Request Permissions]
	Anticipation in progressive diaphyseal dysplasia JORGE M SARAIVA J Med Genet 2000; 37: 394-396. doi:10.1136/jmg.37.5.394 [Extract] [Full text] [PDF] [Request Permissions]
	Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting the PMP22 gene MARGA NADAL, ALBERTO VALIENTE, ANNA DOMÈNECH, MELANIE PRITCHARD, XAVIER ESTIVILL, and MARIA ANTONIA RAMOS-ARROYO J Med Genet 2000; 37: 396-398. doi:10.1136/jmg.37.5.396 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	The Principles of Clinical Cytogenetics JONATHAN J WATERS J Med Genet 2000; 37: 399. doi:10.1136/jmg.37.5.399 [Extract] [Full text] [PDF] [Request Permissions]
	Eye and Face in Syndromes - The Clinical Examination of Eyes and their Surroundings. NORA SHANNON J Med Genet 2000; 37: 399. doi:10.1136/jmg.37.5.399a [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction for vol. 35, p. 472 J Med Genet 2000; 37: 399. [Extract] [Full text] [PDF] [Request Permissions]
	Correction for vol. 37, p. 62 J Med Genet 2000; 37: 399. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Detection of fetal cells in transcervical samples using X22 marker M ADINOLFI and V CIRIGLIANO J Med Genet 2000; 37: e1. doi:10.1136/jmg.37.5.e1 [Extract] [Full text] [PDF] [Request Permissions]
	Autosomal translocation associated with premature ovarian failure KAREN A BURTON, CYNTHIA C VAN EE, KIM PURCELL, INGRID WINSHIP, and ANDREW N SHELLING J Med Genet 2000; 37: e2. doi:10.1136/jmg.37.5.e2 [Extract] [Full text] [PDF] [Request Permissions]
	Genotype-phenotype correlations in tuberous sclerosis PETRUS J DE VRIES and PATRICK F BOLTON J Med Genet 2000; 37: e3. doi:10.1136/jmg.37.5.e3 [Extract] [Full text] [PDF] [Request Permissions]