Review articles

	SHOX haploinsufficiency and overdosage: impact of gonadal function status Tsutomu Ogata, Nobutake Matsuo, and Gen Nishimura J Med Genet 2001; 38: 1-6. doi:10.1136/jmg.38.1.1 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci C D Veal, R L Clough, R C Barber, S Mason, D Tillman, B Ferry, A B Jones, M Ameen, N Balendran, S H Powis, A D Burden, J N W N Barker, and R C Trembath J Med Genet 2001; 38: 7-13. doi:10.1136/jmg.38.1.7 [Abstract] [Full text] [PDF] [Request Permissions]
	A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases P de Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, B M Gabriel, H Journel, M Kretz, J Laurent, M Le Merrer, A Leroy, D Pedespan, P Sarda, N Villeneuve, J Schmitz, E van Schaftingen, G Matthijs, J Jaeken, C Korner, A Munnich, J M Saudubray, and V Cormier-Daire J Med Genet 2001; 38: 14-19. doi:10.1136/jmg.38.1.14 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss Mark J Houseman, Lucy A Ellis, Alistair Pagnamenta, Wei-Li Di, Sarah Rickard, Amelia H Osborn, Hans-Henrik M Dahl, Graham R Taylor, Maria Bitner-Glindzicz, William Reardon, Robert F Mueller, and David P Kelsell J Med Genet 2001; 38: 20-25. doi:10.1136/jmg.38.1.20 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14 Paola Ungaro, Susan L Christian, Judy A Fantes, Apiwat Mutirangura, Susan Black, James Reynolds, Sue Malcolm, William B Dobyns, and David H Ledbetter J Med Genet 2001; 38: 26-34. doi:10.1136/jmg.38.1.26 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion Isabelle Coupry, Laurence Taine, Cyril Goizet, Carine Soriano, Bruno Mortemousque, Benoît Arveiler, and Didier Lacombe J Med Genet 2001; 38: 35-38. doi:10.1136/jmg.38.1.35 [Abstract] [Full text] [PDF] [Request Permissions]

Clinical genetics in practice

	The whole truth and nothing but the truth, but what is the truth? Hanneke M A van den Boer-van den Berg and Anneke A Maat-Kievit J Med Genet 2001; 38: 39-42. doi:10.1136/jmg.38.1.39 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Sensitivity and predictive value of criteria for p53 germline mutation screening AGNÈS CHOMPRET, ANNE ABEL, DOMINIQUE STOPPA-LYONNET, LAURENCE BRUGIÈRES, SABINE PAGÈS, JEAN FEUNTEUN, and CATHERINE BONAÏTI-PELLIÉ J Med Genet 2001; 38: 43-47. doi:10.1136/jmg.38.1.43 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of a transcriptionally compromised allele of c-MYC in a North American family DAVID SIWARSKI, JENNIFER KIM, LENA DIAW, and KONRAD HUPPI J Med Genet 2001; 38: 47-49. doi:10.1136/jmg.38.1.47 [Extract] [Full text] [Request Permissions]
	E-cadherin is not frequently mutated in hereditary gastric cancer EGLE AVIZIENYTE, VIRPI LAUNONEN, REIJO SALOVAARA, TUULA KIVILUOTO, and LAURI A AALTONEN J Med Genet 2001; 38: 49-52. doi:10.1136/jmg.38.1.49 [Extract] [Full text] [Request Permissions]
	The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome MELISSA A PARISI, MARY BETH DINULOS, KATHLEEN A LEPPIG, VIRGINIA P SYBERT, CHARIS ENG, and LOUANNE HUDGINS J Med Genet 2001; 38: 52-58. doi:10.1136/jmg.38.1.52 [Extract] [Full text] [Request Permissions]
	A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? DAVID K SIMON, MARK A TARNOPOLSKY, J TIMOTHY GREENAMYRE, and DONALD R JOHNS J Med Genet 2001; 38: 58-61. doi:10.1136/jmg.38.1.58 [Extract] [Full text] [Request Permissions]
	A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation ERIK FRANSEN, MARGRIET VERSTREKEN, STEVEN J H BOM, FRANÇOIS LEMAIRE, MARTIJN H KEMPERMAN, YVETTE J M DE KOK, FLORIS L WUYTS, WIM I M VERHAGEN, PATRICK L M HUYGEN, WYMAN T MCGUIRT, RICHARD J H SMITH, LIONEL VAN MALDERGEM, FRANK DECLAU, COR W R J CREMERS, PAUL H VAN DE HEYNING, FRANS P M CREMERS, and GUY VAN CAMP J Med Genet 2001; 38: 61-65. doi:10.1136/jmg.38.1.61 [Extract] [Full text] [Request Permissions]
	The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate E REID, A ESCAYG, A M DEARLOVE, D D LEE, M H MEISLER, and D C RUBINSZTEIN J Med Genet 2001; 38: 65-67. doi:10.1136/jmg.38.1.65 [Extract] [Full text] [Request Permissions]
	Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation GENEVIÈVE LEFORT, PATRICIA BLANCHET, ANNE MARIE CHAZE, ANNE GIRARDET, PIERRE SARDA, JACQUES DEMAILLE, and FRANCK PELLESTOR J Med Genet 2001; 38: 67-73. doi:10.1136/jmg.38.1.67 [Extract] [Full text] [Request Permissions]
	Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1qter duplication MARGA NADAL, CÉSAR GUZMÁN VIGO, MARIA ISABEL MELARAGNO, JOYCE A D ANDRADE, LUIS GARCIA ALONSO, DECIO BRUNONI, MELANIE PRITCHARD, and XAVIER ESTIVILL J Med Genet 2001; 38: 73-76. doi:10.1136/jmg.38.1.73 [Extract] [Full text] [Request Permissions]
	Stable non-Robertsonian dicentric chromosomes: four new cases and a review EMMANUELLE LEMYRE, VAZKEN M DER KALOUSTIAN, and ALESSANDRA M V DUNCAN J Med Genet 2001; 38: 76-79. doi:10.1136/jmg.38.1.76 [Extract] [Full text] [Request Permissions]

Corrections

	Correction for vol. 37, p. 88 J Med Genet 2001; 38: 79. [Extract] [Full text] [Request Permissions]

Electronic letters

	How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation EUGENIA BORGIONE, MARIANGELA LO GIUDICE, ORNELLA GALESI, LUCIA CASTIGLIA, PINELLA FAILLA, CORRADO ROMANO, ANGELA RAGUSA, and MARCO FICHERA J Med Genet 2001; 38: e1. doi:10.1136/jmg.38.1.e1 [Extract] [Full text] [PDF] [Request Permissions]
	Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation RUTH V MIKELSAAR, KADI VARB, ANNELI SÜVARI, and ALBERT SCHINZEL J Med Genet 2001; 38: e2. doi:10.1136/jmg.38.1.e2 [Extract] [Full text] [PDF] [Request Permissions]
	Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain KRYSTYNA H CHRZANOWSKA, MARKUS STUMM, MONIKA BEKIESINSKA-FIGATOWSKA, RAYMONDA VARON, MAGDALENA BIALECKA, HANNA GREGOREK, JACEK MICHALKIEWICZ, MALGORZATA KRAJEWSKA-WALASEK, SERGIUSZ JOZWIAK, and ANDRE REIS J Med Genet 2001; 38: e3. doi:10.1136/jmg.38.1.e3 [Extract] [Full text] [PDF] [Request Permissions]
	A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family NICOLE MONNIER, JEAN-PIERRE GOUT, ISABELLE PIN, GENEVIÈVE GAUTHIER, and JOEL LUNARDI J Med Genet 2001; 38: e4. doi:10.1136/jmg.38.1.e4 [Extract] [Full text] [PDF] [Request Permissions]