Nicola Bedoni

Publications | Mémoires et thèses

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7 publications

Sous presse
 
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Morren M.A., Fodstad H., Brems H., Bedoni N., Guenova E., Jacot-Guillarmod M., Busiah K., Giuliano F., Gilliet M., Atallah I. Journal of medical genetics. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_40C612FFCAF2]
2021
 
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Rehman A.U., Sepahi N., Bedoni N., Ravesh Z., Salmaninejad A., Cancellieri F., Peter V.G., Quinodoz M., Mojarrad M., Pasdar A. et al., 2021/09/29. Scientific reports, 11 (1) p. 19332. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F47F704E68B0]
2020
 
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Salmaninejad A., Bedoni N., Ravesh Z., Quinodoz M., Shoeibi N., Mojarrad M., Pasdar A., Rivolta C., 2020/11/10. Scientific reports, 10 (1) p. 19413. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_676CA127081C]
2018
 
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Khateb S., Kowalewski B., Bedoni N., Damme M., Pollack N., Saada A., Obolensky A., Ben-Yosef T., Gross M., Dierks T. et al., 2018/09. Genetics in medicine, 20 (9) pp. 1004-1012. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6E726E92B36E]
2016
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N., Haer-Wigman L., Vaclavik V., Tran V.H., Farinelli P., Balzano S., Royer-Bertrand B., El-Asrag M.E., Bonny O., Ikonomidis C. et al., 2016/10/15. Human molecular genetics, 25 (20) pp. 4546-4555. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_800C2C1B5285]
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K., Farinelli P., Giangreco B., Tsika C., Royer-Bertrand B., Mbefo M.K., Bedoni N., Kjellström U., El Zaoui I., Di Gioia S.A. et al., 2016/09/01. American journal of human genetics, 99 (3) pp. 770-776. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_4A7C86DC11B4]
2015
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
Gioia S.A., Bedoni N., von Scheven-Gête A., Vanoni F., Superti-Furga A., Hofer M., Rivolta C., 2015. Scientific Reports, 5 p. 10200. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_7BCD00A04B55]
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