Journal of Medical Genetics: 40 (6)

Electronic letters

Is growth hormone treatment beneficial or harmful in Costello syndrome? (1 June, 2003)
B Kerr, M A Einaudi, P Clayton, G Gladman, T Eden, P Saunier, D Genevieve, N Philip
Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes (1 June, 2003)
C Bauters, M-C Vantyghem, E Leteurtre, M-F Odou, C Mouton, N Porchet, J-L Wemeau, C Proye, P Pigny
Modulation of methylation in the FMR1 promoter region after long term treatment with L-carnitine and acetyl-L-carnitine
(1 June, 2003)
E Pascale, E Battiloro, G Cimino Reale, R Pietrobono, M G Pomponi, P Chiurazzi, R Nicolai, M Calvani, G Neri, E D’Ambrosio
Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome (1 June, 2003)
A K Lampe, P J Hampton, K Woodford-Richens, I Tomlinson, C M Lawrence, F S Douglas
Microcephaly-cardiomyopathy syndrome: expansion of the phenotype (1 June, 2003)
K Becker, R Yates
A unique form of hypodontia seen in Vietnamese patients: cinical and molecular analysis (1 June, 2003)
S A Frazier-Bowers, K Y Pham, E V Le, A C Cavender, H Kapadia, T M King, D M Milewicz, R N D'Souza
Genetic information but not termination: pregnant women's attitudes and willingness to pay for carrier screening for deafness genes (1 June, 2003)
M Ryan, Z Miedzybrodzka, L Fraser, M Hall

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes (1 June, 2003)
P Richard, K Gaudon, F Andreux, E Yasaki, C Prioleau, S Bauché, A Barois, C Ioos, M Mayer, M C Routon, M Mokhtari, J P Leroy, E Fournier, B Hainque, J Koenig, M Fardeau, B Eymard, D Hantaï
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
(1 June, 2003)
E Ars, H Kruyer, M Morell, E Pros, E Serra, A Ravella, X Estivill, C Lázaro

Telomeres: a diagnosis at the end of the chromosomes (1 June, 2003)
B B A De Vries, R Winter, A Schinzel, C van Ravenswaaij-Arts

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
(1 June, 2003)
P A Jezewski, A R Vieira, C Nishimura, B Ludwig, M Johnson, S E O’Brien, S Daack-Hirsch, R E Schultz, A Weber, B Nepomucena, P A Romitti, K Christensen, I M Orioli, E E Castilla, J Machida, N Natsume, J C Murray
Gene expression signatures identify novel regulatory pathways during murine lung development: implications for lung tumorigenesis (1 June, 2003)
A E Bonner, W J Lemon, M You
A new genetic locus for X linked progressive cone-rod dystrophy (1 June, 2003)
R Jalkanen, F Y Demirci, H Tyynismaa, T Bech-Hansen, A Meindl, M Peippo, M Mäntyjärvi, M B Gorin, T Alitalo
Association of 3′-UTR polymorphisms of the oxidised LDL receptor 1 (OLR1) gene with Alzheimer’s disease
(1 June, 2003)
J-C Lambert, E Luedecking-Zimmer, S Merrot, A Hayes, U Thaker, P Desai, A Houzet, X Hermant, D Cottel, A Pritchard, T Iwatsubo, F Pasquier, B Frigard, P M Conneally, M-C Chartier-Harlin, S T DeKosky, C Lendon, D Mann, M I Kamboh, P Amouyel

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
(1 June, 2003)
N V Morgan, C Bacchelli, P Gissen, J Morton, G B Ferrero, M Silengo, P Labrune, I Casteels, C Hall, P Cox, D A Kelly, R C Trembath, P J Scambler, E R Maher, F R Goodman, C A Johnson
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
(1 June, 2003)
M Rio, L Clech, J Amiel, L Faivre, S Lyonnet, M Le Merrer, S Odent, D Lacombe, P Edery, R Brauner, O Raoul, P Gosset, M Prieur, M Vekemans, A Munnich, L Colleaux, V Cormier-Daire

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
(1 June, 2003)
N Philip, B Chabrol, A-M Lossi, C Cardoso, R Guerrini, W B Dobyns, C Raybaud, L Villard
Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility (1 June, 2003)
F Capon, I K Toal, J C Evans, M H Allen, S Patel, D Tillman, D Burden, J N W N Barker, R C Trembath
Association of genetic variants in the HDL receptor, SR-B1, with abnormal lipids in women with coronary artery disease (1 June, 2003)
J J McCarthy, T Lehner, C Reeves, D J Moliterno, L K Newby, W J Rogers, E J Topol
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring (1 June, 2003)
A Moyhuddin, M E Baser, C Watson, S Purcell, R T Ramsden, A Heiberg, A J Wallace, D G R Evans
Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci (1 June, 2003)
H Koillinen, V Ollikainen, J Rautio, J Hukki, J Kere
Is the locus for Costello syndrome on 11p? (1 June, 2003)
B Kerr, M L Mucchielli, S Sigaudy, M Fabre, P Saunier, M A Voelckel, E Howard, R Elles, T O B Eden, G C Black, N Philip