Editorials

	JMG Online: exploiting the potential of electronic publication and manuscript submission EAMONN R MAHER J Med Genet 2001; 38: 809. doi:10.1136/jmg.38.12.809 [Extract] [Full text] [PDF] [Request Permissions]

Review articles

	Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions Megan P Hitchins, Philip Stanier, Michael A Preece, and Gudrun E Moore J Med Genet 2001; 38: 810-819. doi:10.1136/jmg.38.12.810 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association William Reardon, Xiao-Ping Zhou, and Charis Eng J Med Genet 2001; 38: 820-823. doi:10.1136/jmg.38.12.820 [Abstract] [Full text] [PDF] [Request Permissions]
	Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1 Charis Eng, Lawrence C Brody, Teresa M U Wagner, Peter Devilee, Jan Vijg, Csilla Szabo, Sean V Tavtigian, Katharine L Nathanson, Elaine Ostrander, and Thomas S Frank J Med Genet 2001; 38: 824-833. doi:10.1136/jmg.38.12.824 [Abstract] [Full text] [PDF] [Request Permissions]
	Distinct phenotypes distinguish the molecular classes of Angelman syndrome A C Lossie, M M Whitney, D Amidon, H J Dong, P Chen, D Theriaque, A Hutson, R D Nicholls, R T Zori, C A Williams, and D J Driscoll J Med Genet 2001; 38: 834-845. doi:10.1136/jmg.38.12.834 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Presymptomatic testing in myotonic dystrophy: genetic counselling approaches Siv Fokstuen, Jenny Myring, Christine Evans, and Peter S Harper J Med Genet 2001; 38: 846-850. doi:10.1136/jmg.38.12.846 [Extract] [Full text] [PDF] [Request Permissions]
	Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy Jeanne Amiel, Valérie Raclin, Jean-Marie Jouannic, Nicole Morichon, Hélène Hoffman-Radvanyi, Marc Dommergues, Josué Feingold, Arnold Munnich, and Jean-Paul Bonnefont J Med Genet 2001; 38: 850-852. doi:10.1136/jmg.38.12.850 [Extract] [Full text] [PDF] [Request Permissions]
	Psychological studies in Huntington's disease: making up the balance Magdalena Duisterhof, Rutger W Trijsburg, Martinus F Niermeijer, Raymund A C Roos, and Aad Tibben J Med Genet 2001; 38: 852-861. doi:10.1136/jmg.38.12.852 [Extract] [Full text] [PDF] [Request Permissions]
	A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour Diana Eccles, John Harvey, Adrian Bateman, and Fiona Ross J Med Genet 2001; 38: 861-863. doi:10.1136/jmg.38.12.861 [Extract] [Full text] [PDF] [Request Permissions]
	A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family Mariapina Montera, Francesca Piaggio, Cristiana Marchese, Viviana Gismondi, Alessandro Stella, Nicoletta Resta, Liliana Varesco, Ginevra Guanti, and Cristina Mareni J Med Genet 2001; 38: 863-867. doi:10.1136/jmg.38.12.863 [Extract] [Full text] [PDF] [Request Permissions]
	Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications Violaine Bourdon, Christophe Philippe, Thierry Bienvenu, Bernadette Koenig, Marc Tardieu, Jamel Chelly, and Philippe Jonveaux J Med Genet 2001; 38: 867-871. doi:10.1136/jmg.38.12.867 [Extract] [Full text] [PDF] [Request Permissions]
	Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders Atsushi Imamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Zhongyi Zhang, Toshiro Tsukamoto, Tadao Orii, Takashi Osumi, and Naomi Kondo J Med Genet 2001; 38: 871-874. doi:10.1136/jmg.38.12.871 [Extract] [Full text] [PDF] [Request Permissions]
	Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) Ichiro Kobayashi, Reza Shiari, Masafumi Yamada, Nobuaki Kawamura, Motohiko Okano, Asao Yara, Akihiro Iguchi, Nobuyoshi Ishikawa, Tadashi Ariga, Yukio Sakiyama, Hans D Ochs, and Kunihiko Kobayashi J Med Genet 2001; 38: 874-876. doi:10.1136/jmg.38.12.874 [Extract] [Full text] [PDF] [Request Permissions]
	Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter Dieter Kotzot, Benno Röthlisberger, Mariluce Riegel, and Albert Schinzel J Med Genet 2001; 38: 876-881. doi:10.1136/jmg.38.12.876 [Extract] [Full text] [PDF] [Request Permissions]
	High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample Melanie Ehrlich, Fern Tsien, Delma Herrera, Viola Blackman, Jennifer Roggenbuck, and Cathy M Tuck-Muller J Med Genet 2001; 38: 882-884. doi:10.1136/jmg.38.12.882 [Extract] [Full text] [PDF] [Request Permissions]
	Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child Benno Röthlisberger, Tatjana E Zerova, Dieter Kotzot, Tamara I Buzhievskaya, Damina Balmer, and Albert Schinzel J Med Genet 2001; 38: 885-888. doi:10.1136/jmg.38.12.885 [Extract] [Full text] [PDF] [Request Permissions]
	Sponastrime dysplasia: presentation in infancy A C Offiah, M Lees, R M Winter, and C M Hall J Med Genet 2001; 38: 889-893. doi:10.1136/jmg.38.12.889 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Decoding Darkness - The Search for the Genetic Causes of Alzheimer's Disease. LUK W HO, LYNNETTE J COOK, and DAVID C RUBINSZTEIN J Med Genet 2001; 38: 894. doi:10.1136/jmg.38.12.894 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction for vol. 37, p. 241 J Med Genet 2001; 38: 894. doi:10.1136/jmg.38.12.894a [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Eight years' experience of direct molecular testing for myotonic dystrophy in Wales Siv Fokstuen, Jenny Myring, Linda Meredith, David Ravine, and Peter S Harper J Med Genet 2001; 38: e42. doi:10.1136/jmg.38.12.e42 [Extract] [Full text] [PDF] [Request Permissions]
	Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations Paal Skytt Andersen, Ole Havndrup, Henning Bundgaard, Johanna Catharina Moolman-Smook, Lars Allan Larsen, Jens Mogensen, Paul Andries Brink, Anders Dupont Børglum, Valerie Ann Corfield, Keld Kjeldsen, Jens Vuust, and Michael Christiansen J Med Genet 2001; 38: e43. doi:10.1136/jmg.38.12.e43 [Extract] [Full text] [PDF] [Request Permissions]
	Detection of a large TBX5 deletion in a family with Holt-Oram syndrome Seyed M Akrami, Robin M Winter, J David Brook, and John A L Armour J Med Genet 2001; 38: e44. doi:10.1136/jmg.38.12.e44 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects Weilong Gong, Shoshanna Gottlieb, Joelle Collins, Adam Blescia, Harry Dietz, Elizabeth Goldmuntz, Donna M McDonald-McGinn, Elaine H Zackai, Beverly S Emanuel, Deborah A Driscoll, and Marcia L Budarf J Med Genet 2001; 38: e45. doi:10.1136/jmg.38.12.e45 [Extract] [Full text] [PDF] [Request Permissions]
	De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity S James Talks, Neil Ebenezer, Phil Hykin, Gill Adams, Fung Yang, E Schulenberg, Kevin Gregory-Evans, and Cheryl Y Gregory-Evans J Med Genet 2001; 38: e46. doi:10.1136/jmg.38.12.e46 [Extract] [Full text] [PDF] [Request Permissions]