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.

Original articles

	The 48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased A load in brain Jean-Charles Lambert, David M A Mann, Judith M Harris, Marie-Christine Chartier-Harlin, Alistair Cumming, John Coates, Helen Lemmon, David StClair, Takeshi Iwatsubo, and Corinne Lendon J Med Genet 2001; 38: 353-355. doi:10.1136/jmg.38.6.353 [Abstract] [Full text] [PDF] [Request Permissions]
	Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma Sylviane Olschwang, Cécile Boisson, and Gilles Thomas J Med Genet 2001; 38: 356-360. doi:10.1136/jmg.38.6.356 [Abstract] [Full text] [PDF] [Request Permissions]
	BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age J T Bergthorsson, B Ejlertsen, J H Olsen, A Borg, K V Nielsen, R B Barkardottir, S Klausen, H T Mouridsen, K Winther, K Fenger, A Niebuhr, T L Harboe, and E Niebuhr J Med Genet 2001; 38: 361-368. doi:10.1136/jmg.38.6.361 [Abstract] [Full text] [PDF] [Request Permissions]
	Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26 Riad Bayoumi, Kathrin Saar, Young-Ae Lee, Gudrun Nürnberg, André Reis, Mohammed Nur-E-Kamal, and Lihadh I Al-Gazali J Med Genet 2001; 38: 369-373. doi:10.1136/jmg.38.6.369 [Abstract] [Full text] [PDF] [Request Permissions]
	GATA3 abnormalities and the phenotypic spectrum of HDR syndrome Koji Muroya, Tomonobu Hasegawa, Yoshiya Ito, Toshiro Nagai, Haruhiko Isotani, Yasuyoshi Iwata, Keiichi Yamamoto, Shinji Fujimoto, Sotofumi Seishu, Yoshimitsu Fukushima, Yukihiro Hasegawa, and Tsutomu Ogata J Med Genet 2001; 38: 374-380. doi:10.1136/jmg.38.6.374 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular genetic heterogeneity in autosomal dominant drusen Emma E Tarttelin, Cheryl Y Gregory-Evans, Alan C Bird, Richard G Weleber, Michael L Klein, James Blackburn, and Kevin Gregory-Evans J Med Genet 2001; 38: 381-384. doi:10.1136/jmg.38.6.381 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy Edward Blair, Simon J Price, Catherine J Baty, Ingegerd Östman-Smith, and Hugh Watkins J Med Genet 2001; 38: 385-388. doi:10.1136/jmg.38.6.385 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing Sophie Gad, Maren T Scheuner, Sabine Pages-Berhouet, Virginie Caux-Moncoutier, Aaron Bensimon, Alain Aurias, Mark Pinto, and Dominique Stoppa-Lyonnet J Med Genet 2001; 38: 388-392. doi:10.1136/jmg.38.6.388 [Extract] [Full text] [Request Permissions]
	A unique form of autosomal dominant cataract explained by gene conversion between -crystallin B2 and its pseudogene Vanita, Virinder Sarhadi, André Reis, Martin Jung, Daljit Singh, Karl Sperling, Jai Rup Singh, and Joachim Bürger J Med Genet 2001; 38: 392-396. doi:10.1136/jmg.38.6.392 [Extract] [Full text] [Request Permissions]
	Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness Tamar Ben-Yosef, Marie Wattenhofer, Saima Riazuddin, Zubair M Ahmed, Hamish S Scott, Jun Kudoh, Kazunori Shibuya, Stylianos E Antonarakis, Batsheva Bonne-Tamir, Uppala Radhakrishna, Sadaf Naz, Zahoor Ahmed, Sheikh Riazuddin, Arti Pandya, Walter E Nance, Edward R Wilcox, Thomas B Friedman, and Robert J Morell J Med Genet 2001; 38: 396-400. doi:10.1136/jmg.38.6.396 [Extract] [Full text] [Request Permissions]
	Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln Saara Finnilä, Jaana Autere, Maarit Lehtovirta, Päivi Hartikainen, Arto Mannermaa, Hilkka Soininen, and Kari Majamaa J Med Genet 2001; 38: 400-405. doi:10.1136/jmg.38.6.400 [Extract] [Full text] [Request Permissions]
	Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3 Edda Haberlandt, Judith Löffler, Almut Hirst-Stadlmann, Bernd Stöckl, Werner Judmaier, Helmut Fischer, Peter Heinz-Erian, Thomas Müller, Gerd Utermann, Richard J H Smith, and Andreas R Janecke J Med Genet 2001; 38: 405-409. doi:10.1136/jmg.38.6.405 [Extract] [Full text] [Request Permissions]
	A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree E Grunebaum, E Arpaia, J J MacKenzie, J Fitzpatrick, P N Ray, and C M Roifman J Med Genet 2001; 38: 409-411. doi:10.1136/jmg.38.6.409 [Extract] [Full text] [Request Permissions]
	Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS) Hülya Kayserili, Timothy C Cox, Liza L Cox, Seher Basaran, Gülleyla Kiliç, Andrea Ballabio, and Memnune Yüksel-Apak J Med Genet 2001; 38: 411-417. doi:10.1136/jmg.38.6.411 [Extract] [Full text] [Request Permissions]
	Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations Elena Rossi, Flavia Piccini, Marcella Zollino, Giovanni Neri, Desirée Caselli, Romano Tenconi, Claudio Castellan, Romeo Carrozzo, Cesare Danesino, Orsetta Zuffardi, Angela Ragusa, Lucia Castiglia, Ornella Galesi, Donatella Greco, Corrado Romano, Mauro Pierluigi, Chiara Perfumo, Maia Di Rocco, Francesca Faravelli, Franca Dagna Bricarelli, MariaClara Bonaglia, MariaFrancesca Bedeschi, and Renato Borgatti J Med Genet 2001; 38: 417-420. doi:10.1136/jmg.38.6.417 [Extract] [Full text] [Request Permissions]
	Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome Karim D Kalache, Bianca Masturzo, Rosemary J Scott, Charles H Rodeck, and Lyn S Chitty J Med Genet 2001; 38: 420-422. doi:10.1136/jmg.38.6.420 [Extract] [Full text] [Request Permissions]

Book reviews

	An atlas of preimplantation genetic diagnosis JOY DELHANTY J Med Genet 2001; 38: 423. doi:10.1136/jmg.38.6.423 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction for vol. 37, p. 10 J Med Genet 2001; 38: 423. [Extract] [Full text] [Request Permissions]

Electronic letters

	Mutations in the glycine receptor 1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C John B J Kwok, Salmo Raskin, Graeme Morgan, Sergio Antonio Antoniuk, Isac Bruk, and Peter R Schofield J Med Genet 2001; 38: e17. doi:10.1136/jmg.38.6.e17 [Extract] [Full text] [PDF] [Request Permissions]
	Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4 S W J Tompson, V L Ruiz-Perez, M J Wright, and J A Goodship J Med Genet 2001; 38: e18. doi:10.1136/jmg.38.6.e18 [Extract] [Full text] [PDF] [Request Permissions]
	Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1 J A P Hiel, C M R Weemaes, B G M van Engelen, D Smeets, M Ligtenberg, I van der Burgt, L P W J van den Heuvel, K M Cerosaletti, F J M Gabreëls, and P Concannon J Med Genet 2001; 38: e19. doi:10.1136/jmg.38.6.e19 [Extract] [Full text] [PDF] [Request Permissions]
	Hair roots as the ideal source of mRNA for genetic testing Kathy King, Frances A Flinter, and Peter M Green J Med Genet 2001; 38: e20. doi:10.1136/jmg.38.6.e20 [Extract] [Full text] [PDF] [Request Permissions]
	Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH Holger Tönnies, Markus Stumm, Luitgard Neumann, Marianne Volleth, Uta Grumpelt, Jörg Müsebeck, Gisela Annuss, and Heidemarie Neitzel J Med Genet 2001; 38: e21. doi:10.1136/jmg.38.6.e21 [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.