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Review articles

	Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis Jordan R Hansford and Lois M Mulligan J Med Genet 2000; 37: 817-827. doi:10.1136/jmg.37.11.817 [Abstract] [Full text] [PDF] [Request Permissions]

Commentaries

	Will the real Cowden syndrome please stand up: revised diagnostic criteria Charis Eng J Med Genet 2000; 37: 828-830. doi:10.1136/jmg.37.11.828 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

	A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22) Antony R Lafferty, David J Torpy, Michael Stowasser, Susan E Taymans, Jing Ping Lin, Philip Huggard, Richard D Gordon, and Constantine A Stratakis J Med Genet 2000; 37: 831-835. doi:10.1136/jmg.37.11.831 [Abstract] [Full text] [PDF] [Request Permissions]
	Characterisation and genetic mapping of a new X linked deafness syndrome Donna M Martin, Frank J Probst, Sally A Camper, and Elizabeth M Petty J Med Genet 2000; 37: 836-841. doi:10.1136/jmg.37.11.836 [Abstract] [Full text] [PDF] [Request Permissions]
	Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations? Ulrike Salat, Barbara Bardoni, Doris Wöhrle, and Peter Steinbach J Med Genet 2000; 37: 842-850. doi:10.1136/jmg.37.11.842 [Abstract] [Full text] [PDF] [Request Permissions]
	Desmin splice variants causing cardiac and skeletal myopathy Kye-Yoon Park, Marinos C Dalakas, Hans H Goebel, Victor J Ferrans, Christina Semino-Mora, Svetlana Litvak, Kazuyo Takeda, and Lev G Goldfarb J Med Genet 2000; 37: 851-857. doi:10.1136/jmg.37.11.851 [Abstract] [Full text] [PDF] [Request Permissions]
	Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man Merete Bugge, Gert Bruun-Petersen, Karen Brøndum-Nielsen, Ursula Friedrich, Jan Hansen, Grethe Jensen, Peter K A Jensen, Ulf Kristoffersson, Claes Lundsteen, Erik Niebuhr, Kim R Rasmussen, Kirsten Rasmussen, and Niels Tommerup J Med Genet 2000; 37: 858-865. doi:10.1136/jmg.37.11.858 [Abstract] [Full text] [PDF] [Request Permissions]
	An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling Kelly A Metcalfe, Alexander Liede, Elizabeth Hoodfar, Adrienne Scott, William D Foulkes, and Steven A Narod J Med Genet 2000; 37: 866-874. doi:10.1136/jmg.37.11.866 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism V CORMIER-DAIRE, J AMIEL, S VUILLAUMIER-BARROT, J TAN, G DURAND, A MUNNICH, M LE MERRER, and N SETA J Med Genet 2000; 37: 875-877. doi:10.1136/jmg.37.11.875 [Extract] [Full text] [PDF] [Request Permissions]
	Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination S L DABORA, A A NIETO, D FRANZ, S JOZWIAK, A VAN DEN OUWELAND, and D J KWIATKOWSKI J Med Genet 2000; 37: 877-883. doi:10.1136/jmg.37.11.877 [Extract] [Full text] [PDF] [Request Permissions]
	Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in The Netherlands L N LODDER, P G FRETS, R W TRIJSBURG, E J MEIJERS-HEIJBOER, J G M KLIJN, and M F NIERMEIJER J Med Genet 2000; 37: 883-884. doi:10.1136/jmg.37.11.883 [Extract] [Full text] [PDF] [Request Permissions]
	Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6 A ION, A H CROSBY, H KREMER, N KENMOCHI, M VAN REEN, C FENSKE, I VAN DER BURGT, H G BRUNNER, K MONTGOMERY, R S KUCHERLAPATI, M A PATTON, D C PAGE, E MARIMAN, and S JEFFERY J Med Genet 2000; 37: 884-886. doi:10.1136/jmg.37.11.884 [Extract] [Full text] [PDF] [Request Permissions]
	Hall-Riggs syndrome: a possible second affected family? MARGHERITA SILENGO and ROBERTO RIGARDETTO J Med Genet 2000; 37: 886-889. doi:10.1136/jmg.37.11.886 [Extract] [Full text] [PDF] [Request Permissions]
	Dysmorphic sibs trisomic for the region 6q22.16q23.3 DENISE L M GOH, ARNOLD S C TAN, JEAN Y C CHEN, and JANETTE A VAN DEN BERGHE J Med Genet 2000; 37: 889-892. doi:10.1136/jmg.37.11.889 [Extract] [Full text] [PDF] [Request Permissions]
	A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity WERNER EMBERGER, ERWIN PETEK, BARBARA PLECKO-STARTINIG, PETER M KROISEL, HANNELORE ZIERLER, and KLAUS WAGNER J Med Genet 2000; 37: 892-896. doi:10.1136/jmg.37.11.892 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction for vol. 37, p. 704 J Med Genet 2000; 37: 896. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII A C NICHOLLS, J L SHER, M J WRIGHT, C OLEY, R F MUELLER, and F M POPE J Med Genet 2000; 37: e33. doi:10.1136/jmg.37.11.e33 [Extract] [Full text] [PDF] [Request Permissions]
	Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1 T J L DE RAVEL, G MATTHIJS, M HOLVOET, C WOUTERS, E LEGIUS, and J P FRYNS J Med Genet 2000; 37: e34. doi:10.1136/jmg.37.11.e34 [Extract] [Full text] [PDF] [Request Permissions]
	Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy MICHEALA A ALDRED, R JANE BAGSHAW, KAY MACDERMOT, DAVID CASSON, SIMON H MURCH, J A WALKER-SMITH, and RICHARD C TREMBATH J Med Genet 2000; 37: e35. doi:10.1136/jmg.37.11.e35 [Extract] [Full text] [PDF] [Request Permissions]
	A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis JIAN-MIN CHEN, ODILE RAGUENES, CLAUDE FEREC, PIERRE H DEPREZ, and CHRISTINE VERELLEN-DUMOULIN J Med Genet 2000; 37: e36. doi:10.1136/jmg.37.11.e36 [Extract] [Full text] [PDF] [Request Permissions]
	Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism JONATHAN MANGION, SARAH EDKINS, ALASTAIR N GOSS, MICHAEL R STRATTON, and ADRIENNE M FLANAGAN J Med Genet 2000; 37: e37. doi:10.1136/jmg.37.11.e37 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of three novel frameshift mutations in patients with Friedreich's ataxia MARK A POOK, SAHAR A H AL-MAHDAWI, NEIL H THOMAS, RICHARD APPLETON, ANDREW NORMAN, ROGER MOUNTFORD, and SUSAN CHAMBERLAIN J Med Genet 2000; 37: e38. doi:10.1136/jmg.37.11.e38 [Extract] [Full text] [PDF] [Request Permissions]
	Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE SABER MASMOUDI, AMEL ELGAIED-BOULILA, ILYES KASSAB, SAIDA BEN ARAB, STEPHANE BLANCHARD, JA-EL BOUZOUITA, MOHAMED DRIRA, AICHA KASSAB, SLAH HACHICHA, CHRISTINE PETIT, and HAMMADI AYADI J Med Genet 2000; 37: e39. doi:10.1136/jmg.37.11.e39 [Extract] [Full text] [PDF] [Request Permissions]
	Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease DEBORAH L STONE, NAHID TAYEBI, CHANELLE COBLE, EDWARD I GINNS, and ELLEN SIDRANSKY J Med Genet 2000; 37: e40. doi:10.1136/jmg.37.11.e40 [Extract] [Full text] [PDF] [Request Permissions]

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.