2022

Scientific Articles

unige:159714

Immunodeficiency and lymphoma in Jacobsen syndrome

Nigolian, Haig; Nieke, Jan Philipp; Chevallier, Marion; Stathaki, E; ... Jandus, Peter

2021

Scientific Articles

unige:154133	A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family	Guipponi, Michel; Masclaux, Frédéric; Sloan Bena, Frédérique; Di Sanza, Corinne; ... Neerman Arbez, Marguerite
unige:159455	Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis	Marconi, Caroline Baya Catherine; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; ... Fokstuen, Siv
unige:152622	Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centre	Fehlmann, Aurore; Benkortbi, Khadidja; Rosseel, Ginette; Meyer-Hamme, Ulrike; ... Undurraga Malinverno, Manuela Stefania
unige:148701	Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients	Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; ... Guipponi, Michel

2020

Scientific Articles

unige:138349	Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion	Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; ... Bassett, Anne S
unige:132087	Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase	Luczkowska, Karolina; Stekelenburg, Caroline; Sloan Bena, Frédérique; Ranza, Emmanuelle Nathalie; ... Maechler, Pierre
unige:139078	The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice	Bagheri-Fam, Stefan; Chen, Huijun; Wilson, Sean; Ayers, Katie; ... Wilhelm, Dagmar

2019

Scientific Articles

unige:125806

Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease

Lito, Silvin; Burda, Patricie; Baumgartner, Matthias; Sloan Bena, Frédérique; ... Marteyn, Antoine

2018

Scientific Articles

unige:123733

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane

2015

Scientific Articles

unige:78097	A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis	Calvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga
unige:77369	Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration	Murray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elissavet; ... Nizetic, Dean

2014

Scientific Articles

unige:42302	Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan
unige:44227	Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos
unige:34274	Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, Mohammad Reza; ... Feki, Anis

2013

Scientific Articles

unige:34630

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline

Privat-docent Thesis

unige:29239

High resolution microarray investigation in patients with developmental delay and/or multiple congenital anomalies: delineation of new candidates regions on the human genome

Sloan Bena, Frédérique;

2012

Scientific Articles

unige:34656

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?

Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand

Professional Articles

unige:34647

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G

2011

Scientific Articles

unige:34667	A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia	Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique
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