Review articles

	Rett syndrome and the MECP2 gene Tessa Webb and Farida Latif J Med Genet 2001; 38: 217-223. doi:10.1136/jmg.38.4.217 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

	Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein Pamela Watson, Graeme Black, Simon Ramsden, Margaret Barrow, Maurice Super, Bronwyn Kerr, and Jill Clayton-Smith J Med Genet 2001; 38: 224-228. doi:10.1136/jmg.38.4.224 [Abstract] [Full text] [PDF] [Request Permissions]
	Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment T P Hutchin, K R Thompson, M Parker, V Newton, M Bitner-Glindzicz, and R F Mueller J Med Genet 2001; 38: 229-231. doi:10.1136/jmg.38.4.229 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease Alison E Taylor, Agustin Yip, Carol Brayne, Douglas Easton, John Grimley Evans, John Xuereb, Nigel Cairns, Margaret M Esiri, and David C Rubinsztein J Med Genet 2001; 38: 232-233. doi:10.1136/jmg.38.4.232 [Abstract] [Full text] [PDF] [Request Permissions]
	A polymorphism in the gene for microsomal epoxide hydrolase is associated with pre-eclampsia Petra L M Zusterzeel, Wilbert H M Peters, Willy Visser, Kristel J M Hermsen, Hennie M J Roelofs, and Eric A P Steegers J Med Genet 2001; 38: 234-237. doi:10.1136/jmg.38.4.234 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm R S MCCONNELL, D C RUBINSZTEIN, T F FANNIN, C S MCKINSTRY, B KELLY, I C BAILEY, and A E HUGHES J Med Genet 2001; 38: 238-240. doi:10.1136/jmg.38.4.238 [Extract] [Full text] [PDF] [Request Permissions]
	Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method PASCALE SAUGIER-VEBER, NATHALIE DROUOT, SUZIE LEFEBVRE, FRANÇOISE CHARBONNIER, ELODIE VIAL, ARNOLD MUNNICH, and THIERRY FRÉBOURG J Med Genet 2001; 38: 240-243. doi:10.1136/jmg.38.4.240 [Extract] [Full text] [Request Permissions]
	Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis JOHANN OCKENGA, THILO DÖRK, and MANFRED STUHRMANN J Med Genet 2001; 38: 243-244. doi:10.1136/jmg.38.4.243 [Extract] [Full text] [Request Permissions]
	Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus AJIT KADAKOL, BALJIT S SAPPAL, SIDDHARTHA S GHOSH, MARK LOWENHEIM, ABHIJIT CHOWDHURY, SUJIT CHOWDHURY, AMAL SANTRA, IRWIN M ARIAS, JAYANTA ROY CHOWDHURY, and NAMITA ROY CHOWDHURY J Med Genet 2001; 38: 244-249. doi:10.1136/jmg.38.4.244 [Extract] [Full text] [Request Permissions]
	Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2 K A SCOGGAN, T CHANDRA, R NELSON, A F HAHN, and D E BULMAN J Med Genet 2001; 38: 249-253. doi:10.1136/jmg.38.4.249 [Extract] [Full text] [Request Permissions]
	Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome GAËLLE BOUGEARD, JEAN-MARC LIMACHER, COSETTE MARTIN, FRANÇOISE CHARBONNIER, AUDREY KILLIAN, OLIVIER DELATTRE, MICHEL LONGY, PHILIPPE JONVEAUX, JEAN-PIERRE FRICKER, DOMINIQUE STOPPA-LYONNET, JEAN-MICHEL FLAMAN, and THIERRY FRÉBOURG J Med Genet 2001; 38: 253-257. doi:10.1136/jmg.38.4.253 [Extract] [Full text] [Request Permissions]
	A distinct splice form of APC is highly expressed in neurones but not commonly mutated in neuroepithelial tumours KIRA STEIGERWALD, IRMA M SANTORO, JENNIFER J KORDICH, VIVIANA GISMONDI, CHRIS TRZEPACZ, MANUELA BADIALI, F GIANGASPERO, M GREGORY BALKO, JENNIFER S GRAHAM, NANCY RATNER, ANDREW M LOWY, LILIANA VARESCO, and JOANNA GRODEN J Med Genet 2001; 38: 257-262. doi:10.1136/jmg.38.4.257 [Extract] [Full text] [Request Permissions]
	Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism DENISE HORN, EDGAR RUPPRECHT, JÜRGEN KUNZE, and JÜRGEN SPRANGER J Med Genet 2001; 38: 262-265. doi:10.1136/jmg.38.4.262 [Extract] [Full text] [Request Permissions]
	Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family ANDREAS R JANECKE, KARIN UNSINN, ALFONS KRECZY, IVO BALDISSERA, INGMAR GASSNER, NIKOLAUS NEU, GERD UTERMANN, and THOMAS MÜLLER J Med Genet 2001; 38: 265-269. doi:10.1136/jmg.38.4.265 [Extract] [Full text] [Request Permissions]
	Diaphragmatic hernia, hydrocephalus, and cardiac malformations in four pregnancies of a non-consanguineous couple C D DELOZIER-BLANCHET, J LESPINASSE, M A BRUNDLER, and P EXTERMANN J Med Genet 2001; 38: 269-271. doi:10.1136/jmg.38.4.269 [Extract] [Full text] [Request Permissions]
	Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym PETER D TURNPENNY and RON W PIGOTT J Med Genet 2001; 38: 271-273. doi:10.1136/jmg.38.4.271 [Extract] [Full text] [Request Permissions]
	Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? KATARIINA HANNULA, JUHA KERE, SINIKKA PIRINEN, CHRISTER HOLMBERG, and MARITA LIPSANEN-NYMAN J Med Genet 2001; 38: 273-278. doi:10.1136/jmg.38.4.273 [Extract] [Full text] [Request Permissions]

Book reviews

	Annual Review of Genomics and Human Genetics DAVID C RUBINSZTEIN J Med Genet 2001; 38: 279. doi:10.1136/jmg.38.4.279 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	No evidence for mosaicism in Silver-Russell syndrome DAVID MONK, MEGAN HITCHINS, SILVIA RUSSO, MICHAEL PREECE, PHILIP STANIER, and GUDRUN E MOORE J Med Genet 2001; 38: e11. doi:10.1136/jmg.38.4.e11 [Extract] [Full text] [PDF] [Request Permissions]
	New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles ANNEKE MAAT-KIEVIT, MONIQUE LOSEKOOT, HANNEKE VAN DEN BOER-VAN DEN BERG, GERT-JAN VAN OMMEN, MARTINUS NIERMEIJER, MARTIJN BREUNING, and AAD TIBBEN J Med Genet 2001; 38: e12. doi:10.1136/jmg.38.4.e12 [Extract] [Full text] [PDF] [Request Permissions]