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Journal of Pediatric Orthopedics|April 7, 2007
Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotypeRomain Dayer, Dimitri Ceroni, Armand Bottani, et al.
Molecular Syndromology|August 18, 2015
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry SyndromeMarkus Gschwind, Giovanni Foletti, Alessandra Baumer, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndromeJill Dixon, Ian Ellis, Armand Bottani, et al.
Revue Medicale Suisse|July 18, 2017
[Pectus excavatumn and carinatum in children and adolescents : what to say, what to do ?]Pierre Lascombes, Isabelle Ruchonnet-Métrailler, Maurice Beghetti, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic featuresFrédérique Béna, Armand Bottani, Fabienne Marcelli, et al.
Human Mutation|January 24, 2006
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndromeWiktor Borozdin, Katharina Steinmann, Beate Albrecht, et al.
American Journal of Medical Genetics. Part A|September 12, 2007
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1Armand Bottani, Alfredo Orrico, Lucia Galli, et al.
Ophthalmology|January 28, 2012
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndromeGiulia Venturini, Alexandre P Moulin, Manuel Deprez, et al.
European Journal of Medical Genetics|November 15, 2011
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?Periklis Makrythanasis, Stefania Gimelli, Frédérique Béna, et al.
Genome Research|January 7, 2014
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterFederico A Santoni, Periklis Makrythanasis, Sergey Nikolaev, et al.
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