2016

Scientific Articles

unige:86476

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D; Fish, Richard; ... Merla, Giuseppe

2013

Scientific Articles

unige:34338

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Sailani, Mohammad Reza; Makrythanasis, Periklis; Valsesia, Armand; Santoni, Federico; ... Antonarakis, Stylianos

Professional Articles

unige:34633

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Makrythanasis, Periklis; van Bon, Bw; Merla, Giuseppe; Antonarakis, Stylianos; Hoischen, A

2011

Scientific Articles

unige:34657

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, Sébastien; Reymond, Alexandre; Antonarakis, Stylianos; Sloan Bena, Frédérique; ... Vollenweider, Peter

2008

Scientific Articles

unige:19091

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M. R.; ... Reymond, Alexandre

2006

Scientific Articles

unige:8897	Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes	Merla, Giuseppe; Howald, Cedric; Henrichsen, C. N.; Lyle, Robert; ... Reymond, Alexandre
unige:8815	Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions	Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre

2004

Scientific Articles

unige:8722	Detection of aneuploidies by paralogous sequence quantification	Deutsch, Samuel; Choudhury, U.; Merla, Giuseppe; Howald, C.; ... Antonarakis, Stylianos
unige:8896	The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3	Merla, Giuseppe; Howald, Cedric; Antonarakis, Stylianos; Reymond, Alexandre;

2003

Scientific Articles

unige:8725

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis