Valvar diseases

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
A Sarkozy, E Conti, D Seripa, M C Digilio, N Grifone, C Tandoi, V M Fazio, V Di Ciommo, B Marino, A Pizzuti, B Dallapiccola

Journal of Medical Genetics Sep 2003, 40 (9) 704-708; DOI: 10.1136/jmg.40.9.704
Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome
R Heller, A Rauch, S Lüttgen, B Schröder, A Winterpacht

Journal of Medical Genetics Aug 2003, 40 (8) e99; DOI: 10.1136/jmg.40.8.e99
Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion
C Gagliardi, M C Bonaglia, A Selicorni, R Borgatti, R Giorda

Journal of Medical Genetics Jul 2003, 40 (7) 526-530; DOI: 10.1136/jmg.40.7.526
Microcephaly-cardiomyopathy syndrome: expansion of the phenotype
K Becker, R Yates

Journal of Medical Genetics Jun 2003, 40 (6) e78; DOI: 10.1136/jmg.40.6.e78
Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation
T Mononen, A Sharp, M Laakso, R-L Meltoranta, A-K Valve-Dietz, K Heinonen

Journal of Medical Genetics May 2003, 40 (5) e61; DOI: 10.1136/jmg.40.5.e61
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome
M Meins, P Burfeind, S Motsch, R Trappe, D Bartmus, S Langer, M R Speicher, H Mühlendyck, I Bartels, B Zoll

Journal of Medical Genetics May 2003, 40 (5) e62; DOI: 10.1136/jmg.40.5.e62
Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy
P M H West, D R Love, P M Stapleton, I M Winship

Journal of Medical Genetics Mar 2003, 40 (3) 223-226; DOI: 10.1136/jmg.40.3.223
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome
A Karmiloff-Smith, J Grant, S Ewing, M J Carette, K Metcalfe, D Donnai, A P Read, M Tassabehji

Journal of Medical Genetics Feb 2003, 40 (2) 136-140; DOI: 10.1136/jmg.40.2.136
Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis
S M Singh, B Murphy, R O’Reilly

Journal of Medical Genetics Nov 2002, 39 (11) e71; DOI: 10.1136/jmg.39.11.e71
Cardiovascular manifestations in 75 patients with Williams syndrome
M Eronen, M Peippo, A Hiippala, M Raatikka, M Arvio, R Johansson, M Kähkönen

Journal of Medical Genetics Aug 2002, 39 (8) 554-558; DOI: 10.1136/jmg.39.8.554

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