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
Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
W Courtens, A-B Johansson, B Dachy, F Avni, N Telerman-Toppet, H Scheffer

Journal of Medical Genetics Jan 2002, 39 (1) 74-77; DOI: 10.1136/jmg.39.1.74
High resolution comparative genomic hybridisation in clinical cytogenetics
Maria Kirchhoff, Hanne Rose, Claes Lundsteen

Journal of Medical Genetics Nov 2001, 38 (11) 740-744; DOI: 10.1136/jmg.38.11.740
Coeliac disease in Williams syndrome
Aldo Giannotti, Giovanni Tiberio, Massimo Castro, Fabio Virgilii, Franco Colistro, Francesca Ferretti, Maria Cristina Digilio, Manuela Gambarara, Bruno Dallapiccola

Journal of Medical Genetics Nov 2001, 38 (11) 767-768; DOI: 10.1136/jmg.38.11.767
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature
K A Mensink, R P Ketterling, H C Flynn, R A Knudson, N M Lindor, B A Heese, R J Spinner, D Babovic-Vuksanovic

Journal of Medical Genetics Feb 2006, 43 (2) e08; DOI: 10.1136/jmg.2005.034256
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
B Keren, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, O Boute, D Gaillard, D Lacombe, V Layet, S Marlin, G Mortier, A Toutain, C Beylot, C Baumann, A Verloes, H Cavé

Journal of Medical Genetics Nov 2004, 41 (11) e117; DOI: 10.1136/jmg.2004.021451
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load
L-J C Wong, C-L Perng, C-H Hsu, R-K Bai, S Schelley, G D Vladutiu, H Vogel, G M Enns

Journal of Medical Genetics Nov 2003, 40 (11) e125; DOI: 10.1136/jmg.40.11.e125
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
A Sarkozy, E Conti, C Neri, R D’Agostino, M C Digilio, G Esposito, A Toscano, B Marino, A Pizzuti, B Dallapiccola

Journal of Medical Genetics Feb 2005, 42 (2) e16; DOI: 10.1136/jmg.2004.026740
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain
KRYSTYNA H CHRZANOWSKA, MARKUS STUMM, MONIKA BEKIESIŃSKA-FIGATOWSKA, RAYMONDA VARON, MAGDALENA BIAŁECKA, HANNA GREGOREK, JACEK MICHAŁKIEWICZ, MAŁGORZATA KRAJEWSKA-WALASEK, SERGIUSZ JÓŹWIAK, ANDRÉ REIS

Journal of Medical Genetics Jan 2001, 38 (1) e3; DOI: 10.1136/jmg.38.1.e3
Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears
A W M NIEUWINT, J M VAN HAGEN, Y M HEINS, K MADAN, L P TEN KATE

Journal of Medical Genetics Jun 2000, 37 (6) e4; DOI: 10.1136/jmg.37.6.e4

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