Journal of Medical Genetics: 39 (4)

Electronic letters

Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects (1 April, 2002)
R Voigt, M Maier-Weidmann, P E Lange, T Haaf
Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome (1 April, 2002)
P De Mas, N Chassaing, Y Chaix, M-C Vincent, S Julia, G Bourrouillou, P Calvas, E Bieth
Absence of 22q11 deletions in 211 patients with developmental delay analysed using PCR (1 April, 2002)
S J Waite, N S Thomas, J C K Barber
A school based study of children with learning disability indicates poor levels of genetic investigation (1 April, 2002)
D R FitzPatrick, P Pearson, S Halpin, P Jackson
DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot)
(1 April, 2002)
L Bonafé, S H Blanton, A Scott, S Broussard, C A Wise, A Superti-Furga, J T Hecht

Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility
(1 April, 2002)
M M de Jong, I M Nolte, G J te Meerman, W T A van der Graaf, J C Oosterwijk, J H Kleibeuker, M Schaapveld, E G E de Vries

Another risk factor for MI? (1 April, 2002)
Gene carriers face other risks (1 April, 2002)
Limited role for HLA DR15 in MS (1 April, 2002)
Genes predict outcome in multiple sclerosis (1 April, 2002)
Cancers of the small and large bowel originate differently (1 April, 2002)

Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth (1 April, 2002)
J C S Dean, H Hailey, S J Moore, D J Lloyd, P D Turnpenny, J Little
Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma
(1 April, 2002)
F Lesueur, M Corbex, J D McKay, J Lima, P Soares, P Griseri, J Burgess, I Ceccherini, S Landolfi, M Papotti, A Amorim, D E Goldgar, G Romeo
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation (1 April, 2002)
M Rio, F Molinari, S Heuertz, C Ozilou, P Gosset, O Raoul, V Cormier-Daire, J Amiel, S Lyonnet, M Le Merrer, C Turleau, M-C de Blois, M Prieur, S Romana, M Vekemans, A Munnich, L Colleaux

A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? (1 April, 2002)
M Fichera, E Borgione, E Avola, S Amata, M Sturnio, C Romano, A Ragusa
Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome (1 April, 2002)
M Hmani-Aifa, S Ben Arab, K Kharrat, D J Orten, A Boulila-Elgaied, M Drira, S Hachicha, W J Kimberling, H Ayadi
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
(1 April, 2002)
J-M Rozet, I Perrault, N Gigarel, E Souied, I Ghazi, S Gerber, J-L Dufier, A Munnich, J Kaplan
Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency (1 April, 2002)
H Hanawa, K Watanabe, T Nakamura, Y Ogawa, K Toba, I Fuse, M Kodama, K Kato, K Fuse, Y Aizawa
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1
(1 April, 2002)
A Rakkolainen, S Ala-Mello, P Kristo, A Orpana, I Järvelä
Genetic characterisation of patients with multiple colonic polyps (1 April, 2002)
C Albuquerque, M Cravo, C Cruz, P Lage, P Chaves, P Fidalgo, A Suspiro, C Nobre Leitão