Valvar diseases

CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping
DORIT LEV, ORLY NAKAR, IRIT BAR-AM, ALEXANDER ZUDIK, NATHAN WATEMBERG, SHARON FINKELSTIEN, NIRIT KATZIN, TALLY LERMAN-SAGIE

Journal of Medical Genetics Dec 2000, 37 (12) e47; DOI: 10.1136/jmg.37.12.e47
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
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
A Sarkozy, E Conti, M Cristina Digilio, B Marino, E Morini, G Pacileo, M Wilson, R Calabrò, A Pizzuti, B Dallapiccola

Journal of Medical Genetics May 2004, 41 (5) e68; DOI: 10.1136/jmg.2003.013466
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
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation
D Genevieve, C Baumann, C Huber, L Faivre, D Sanlaville, C Bodemer, S Hadj-Rabia, A Assoumou, A Verloes, F Raqbi, A Munnich, V Cormier-Daire

Journal of Medical Genetics Jun 2004, 41 (6) e77; DOI: 10.1136/jmg.2003.013573
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
A case of Costello syndrome and glycogen storage disease type III
M Kaji, K Kurokawa, T Hasegawa, K Oguro, A Saito, T Fukuda, M Ito, H Sugie

Journal of Medical Genetics Feb 2002, 39 (2) e8; DOI: 10.1136/jmg.39.2.e8
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
Rhizomelic chondrodysplasia punctata and cardiac pathology
Irene C Huffnagel, Sally-Ann B Clur, Annemieke M Bams-Mengerink, Nico A Blom, Ronald J A Wanders, Hans R Waterham, Bwee Tien Poll-The

Journal of Medical Genetics Jul 2013, 50 (7) 419-424; DOI: 10.1136/jmedgenet-2013-101536

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