Review articles

	Spinal muscular atrophy: untangling the knot? Ivan Biros and Susan Forrest J Med Genet 1999; 36: 1-8. doi:10.1136/jmg.36.1.1 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation Elisabeth Lajeunie, Vincent El Ghouzzi, Martine Le Merrer, Arnold Munnich, Jacky Bonaventure, and Dominique Renier J Med Genet 1999; 36: 9-13. doi:10.1136/jmg.36.1.9 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition Yvonne L Wallis, Dion G Morton, Carole M McKeown, and Fiona Macdonald J Med Genet 1999; 36: 14-20. doi:10.1136/jmg.36.1.14 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome) Peining Li, Amy B Bellows, and Jerry N Thompson J Med Genet 1999; 36: 21-27. doi:10.1136/jmg.36.1.21 [Abstract] [Full text] [PDF] [Request Permissions]
	Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel -N-acetylglucosaminidase gene mutations Susanna Bunge, Astrid Knigge, Cordula Steglich, Wim J Kleijer, Otto P van Diggelen, Michael Beck, and Andreas Gal J Med Genet 1999; 36: 28-32. doi:10.1136/jmg.36.1.28 [Abstract] [Full text] [PDF] [Request Permissions]
	Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36 Julia Zguricas, Henk Heus, Estela Morales-Peralta, Guido Breedveld, Bertus Kuyt, Ethem F Mumcu, Wendela Bakker, Nurten Akarsu, Simon P J Kay, Steven E R Hovius, Luis Heredero-Baute, Ben A Oostra, and Peter Heutink J Med Genet 1999; 36: 33-40. doi:10.1136/jmg.36.1.33 [Abstract] [Full text] [Request Permissions]
	Cystic fibrosis carrier frequencies in populations of African origin Carolyn Padoa, Andrea Goldman, Trefor Jenkins, and Michele Ramsay J Med Genet 1999; 36: 41-44. doi:10.1136/jmg.36.1.41 [Abstract] [Full text] [PDF] [Request Permissions]
	Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism Clare M Conn, Jean Cozzi, Joyce C Harper, Robert M L Winston, and Joy D A Delhanty J Med Genet 1999; 36: 45-50. doi:10.1136/jmg.36.1.45 [Abstract] [Full text] [PDF] [Request Permissions]
	Sotos syndrome and cutis laxa Stephen P Robertson and Agnes Bankier J Med Genet 1999; 36: 51-56. doi:10.1136/jmg.36.1.51 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family Jian Y Xuan, Rhiannon M Hughes-Benzie, and Alex E MacKenzie J Med Genet 1999; 36: 57-58. doi:10.1136/jmg.36.1.57 [Abstract] [Full text] [PDF] [Request Permissions]
	Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions Marion G Hamshere, Helen Harley, Peter Harper, J David Brook, and John F Y Brookfield J Med Genet 1999; 36: 59-61. doi:10.1136/jmg.36.1.59 [Abstract] [Full text] [PDF] [Request Permissions]
	Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression Russell L Margolis, O Colin Stine, Christopher M Ward, Mary L Franz, Adam Rosenblatt, Colleen Callahan, Meeia Sherr, Christopher A Ross, and Nicholas T Potter J Med Genet 1999; 36: 62-64. doi:10.1136/jmg.36.1.62 [Abstract] [Full text] [PDF] [Request Permissions]
	Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation Alex Kartheuser, Corinne Walon, Sarah West, Cor Breukel, Roger Detry, Anne-Catherine Gribomont, Tayebeh Hamzehloei, Pierre Hoang, Dominique Maiter, Jacques Pringot, Jacques Rahier, P Meera Khan, Ann Curtis, John Burn, Riccardo Fodde, and Christine Verellen-Dumoulin J Med Genet 1999; 36: 65-67. doi:10.1136/jmg.36.1.65 [Abstract] [Full text] [PDF] [Request Permissions]
	High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain Beatriz Sánchez, Mercedes Robledo, Josefina Biarnes, María-Eugenia Sáez, Victor Volpini, Javier Benítez, Elena Navarro, Agustín Ruiz, Guillermo Antiñolo, and Salud Borrego J Med Genet 1999; 36: 68-70. doi:10.1136/jmg.36.1.68 [Abstract] [Full text] [PDF] [Request Permissions]
	De novo 10q22 interstitial deletion Lola Cook, David D Weaver, James K Hartsfield, Jr, and Gail H Vance J Med Genet 1999; 36: 71-72. doi:10.1136/jmg.36.1.71 [Abstract] [Full text] [PDF] [Request Permissions]
	Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1) Algirdas Utkus, Irina Sorokina, Vaidutis Kucinskas, Benno Röthlisberger, Damina Balmer, Lukrecija Brecevic, and Albert Schinzel J Med Genet 1999; 36: 73-76. doi:10.1136/jmg.36.1.73 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14) Mattia Gentile, Antonia L Buonadonna, Filomena Cariola, Paola Fiorente, Maria C Valenzano, and Ginevra Guanti J Med Genet 1999; 36: 77-82. doi:10.1136/jmg.36.1.77 [Abstract] [Full text] [PDF] [Request Permissions]
	Anomalous right pulmonary artery origins in association with the fetal valproate syndrome C N Mo and E J Ladusans J Med Genet 1999; 36: 83-84. doi:10.1136/jmg.36.1.83 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Frequency of mutations for glycogen storage disease type II in different populations: the 525T and exon 18 mutations are not generally "common" in white populations ROCHELLE HIRSCHHORN and MARYANN L HUIE J Med Genet 1999; 36: 85-86. doi:10.1136/jmg.36.1.85 [Extract] [Full text] [Request Permissions]
	Infant methionine synthase variants and risk for spina bifida GARY M SHAW, KAREN TODOROFF, RICHARD H FINNELL, EDWARD J LAMMER, DANIEL LECLERC, ROY A GRAVEL, and RIMA ROZEN J Med Genet 1999; 36: 86-87. doi:10.1136/jmg.36.1.86 [Extract] [Full text] [Request Permissions]

Miscellaneous

	J Med Genet 1999; 36: 86a. doi:10.1136/jmg.36.1.86a [Extract] [Full text] [Request Permissions]