Review articles

	Two hits revisited again I P M Tomlinson, R Roylance, and R S Houlston J Med Genet 2001; 38: 81-85. doi:10.1136/jmg.38.2.81 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients Thomas Eggermann, Susanne Mergenthaler, Katja Eggermann, Alexandra Albers, Knud Linnemann, Christoph Fusch, Michael B Ranke, and Hartmut A Wollmann J Med Genet 2001; 38: 86-89. doi:10.1136/jmg.38.2.86 [Abstract] [Full text] [PDF] [Request Permissions]
	A comparison of methods for gene dosage analysis in HMSN type 1 Jayne S Rowland, David E Barton, Graham R Taylor, and UK Clinical Molecular Genetics Society HMSN Project Group J Med Genet 2001; 38: 90-95. doi:10.1136/jmg.38.2.90 [Abstract] [Full text] [PDF] [Request Permissions]
	Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients Y Zhang, T Lundgren, S Renvert, D N Tatakis, E Firatli, C Uygur, P S Hart, M C Gorry, J J Marks, and T C Hart J Med Genet 2001; 38: 96-101. doi:10.1136/jmg.38.2.96 [Abstract] [Full text] [PDF] [Request Permissions]
	De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer Rob B van der Luijt, Patrick H A van Zon, Rumó P M Jansen, Carla J M van der Sijs-Bos, Carla C Wárlám-Rodenhuis, and Margreet G E M Ausems J Med Genet 2001; 38: 102-105. doi:10.1136/jmg.38.2.102 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2 CONSTANTINE A STRATAKIS, SUSAN E TAYMANS, DAVID SCHTEINGART, and BASSEM R HADDAD J Med Genet 2001; 38: 106-109. doi:10.1136/jmg.38.2.106 [Extract] [Full text] [PDF] [Request Permissions]
	Mutations in SURF1 are not specifically associated with Leigh syndrome JÜRGEN-CHRISTOPH VON KLEIST-RETZOW, JIANBO YAO, JAN-WILLEM TAANMAN, KARINE CHANTREL, DOMINIQUE CHRETIEN, VALÉRIE CORMIER-DAIRE, AGNÈS RÖTIG, ARNOLD MUNNICH, PIERRE RUSTIN, and ERIC A SHOUBRIDGE J Med Genet 2001; 38: 109-113. doi:10.1136/jmg.38.2.109 [Extract] [Full text] [PDF] [Request Permissions]
	A novel mutation and novel features in Nijmegen breakage syndrome P MARASCHIO, C DANESINO, A ANTOCCIA, R RICORDY, C TANZARELLA, R VARON, A REIS, D BESANA, A GUALA, and L TIEPOLO J Med Genet 2001; 38: 113-117. doi:10.1136/jmg.38.2.113 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome G BORCK, J WIRTH, T HARDT, H TÖNNIES, K BRØNDUM-NIELSEN, M BUGGE, N TOMMERUP, H-G NOTHWANG, H-H ROPERS, and T HAAF J Med Genet 2001; 38: 117-121. doi:10.1136/jmg.38.2.117 [Extract] [Full text] [PDF] [Request Permissions]
	Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation FABIENNE GIRAUDEAU, LAURENCE TAINE, VALÉRIE BIANCALANA, BRUNO DELOBEL, HUBERT JOURNEL, CHANTAL MISSIRIAN, DIDIER LACOMBE, DOMINIQUE BONNEAU, PHILIPPE PARENT, DOMINIQUE AUBERT, YOLANDE HAUCK, MARIE FRANÇOISE CROQUETTE, ANNICK TOUTAIN, MARIE GENEVIÈVE MATTEI, HERVÉ AVET LOISEAU, ALBERT DAVID, and GILLES VERGNAUD J Med Genet 2001; 38: 121-125. doi:10.1136/jmg.38.2.121 [Extract] [Full text] [PDF] [Request Permissions]
	A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities NATALIA D SUMPTION and JOHN C K BARBER J Med Genet 2001; 38: 125-127. doi:10.1136/jmg.38.2.125 [Extract] [Full text] [PDF] [Request Permissions]
	Keratosis pilaris/ulerythema ophryogenes and 18p deletion: is it possible that the LAMA1 gene is involved? CHRISTOS C ZOUBOULIS, CONSTANTINE A STRATAKIS, H P M GOLLNICK, and CONSTANTIN E ORFANOS J Med Genet 2001; 38: 127-128. doi:10.1136/jmg.38.2.127 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular characterisation of a proximal chromosome 18q deletion M McENTAGART, A CAREY, C BREEN, S McQUAID, R L STALLINGS, A J GREEN, and M D KING J Med Genet 2001; 38: 128-129. doi:10.1136/jmg.38.2.128 [Extract] [Full text] [PDF] [Request Permissions]
	Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning KIMBERLEY J FLINTOFF, EAMONN SHERIDAN, GWEN TURNER, CAROL E CHU, and GRAHAM R TAYLOR J Med Genet 2001; 38: 129-132. doi:10.1136/jmg.38.2.129 [Extract] [Full text] [PDF] [Request Permissions]
	Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro2(I) chain and an EDS/OI clinical phenotype A C NICHOLLS, D VALLER, S WALLIS, and F M POPE J Med Genet 2001; 38: 132-136. doi:10.1136/jmg.38.2.132 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland DAVID HUGHES, THILO DÖRK, MANFRED STUHRMANN, and COLIN GRAHAM J Med Genet 2001; 38: 136-139. doi:10.1136/jmg.38.2.136 [Extract] [Full text] [PDF] [Request Permissions]
	Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer P HOPWOOD, A SHENTON, F LALLOO, D G R EVANS, and A HOWELL J Med Genet 2001; 38: 139. doi:10.1136/jmg.38.2.139 [Extract] [Full text] [Request Permissions]

Electronic letters

	DEFECT 11 syndrome associated with agenesis of the corpus callosum TOSHIYUKI YAMAMOTO, SHINJIROU AKABOSHI, HARUAKI NINOMIYA, and EIJI NANBA J Med Genet 2001; 38: e5. doi:10.1136/jmg.38.2.e5 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association ROBERTA CINTI, MANUELA PRIOLO, MARGHERITA LERONE, GIORGIO GIMELLI, MARCO SERI, MARGHERITA SILENGO, and ROBERTO RAVAZZOLO J Med Genet 2001; 38: e6. doi:10.1136/jmg.38.2.e6 [Extract] [Full text] [PDF] [Request Permissions]
	Germline mutation analysis of the transforming growth factor receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer LOVEENA VERMA, TIMOTHY R PORTER, FRANCES M RICHARDS, M HELEN RAJPAR, D GARETH R EVANS, FIONA MACDONALD, and EAMONN R MAHER J Med Genet 2001; 38: e7. doi:10.1136/jmg.38.2.e7 [Extract] [Full text] [PDF] [Request Permissions]