Valvar diseases

Congenital valvular defects associated with deleterious mutations in the PLD1 gene
Asaf Ta-Shma, Kai Zhang, Ekaterina Salimova, Alma Zernecke, Daniel Sieiro-Mosti, David Stegner, Milena Furtado, Avraham Shaag, Zeev Perles, Bernhard Nieswandt, Azaria J J T Rein, Nadia Rosenthal, Aaron M Neiman, Orly Elpeleg

Journal of Medical Genetics Apr 2017, 54 (4) 278-286; DOI: 10.1136/jmedgenet-2016-104259
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
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome
J A Goodship, J O'Sullivan, P F Chinnery, A K Ryan, N Ziakas, C M Hall, M Clarke

Journal of Medical Genetics Mar 2002, 39 (3) 221-223; DOI: 10.1136/jmg.39.3.221
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
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
C M Armour, J E Allanson

Journal of Medical Genetics Apr 2008, 45 (4) 249-254; DOI: 10.1136/jmg.2007.054460
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
C Howald, G Merla, M C Digilio, S Amenta, R Lyle, S Deutsch, U Choudhury, A Bottani, S E Antonarakis, H Fryssira, B Dallapiccola, A Reymond

Journal of Medical Genetics Mar 2006, 43 (3) 266-273; DOI: 10.1136/jmg.2005.034009
Clinical and molecular genetics of Stickler syndrome
Martin P Snead, John R W Yates

Journal of Medical Genetics May 1999, 36 (5) 353-359; DOI: 10.1136/jmg.36.5.353
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes
A Botta, G Novelli, A Mari, A Novelli, M Sabani, J Korenberg, L R Osborne, M C Digilio, A Giannotti, B Dallapiccola

Journal of Medical Genetics Jun 1999, 36 (6) 478-480; DOI: 10.1136/jmg.36.6.478
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
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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