Maurizio Clementi
Affiliations: | University of Padua, Padova, Veneto, Italy |
Area:
Molecular GeneticsGoogle:
"Maurizio Clementi"Mean distance: 106866
Cross-listing: Chemistry Tree
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Publications
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| Cassina M, Leon FF, Ruol M, et al. (2019) Prevalence and survival of patients with anorectal malformations: A population-based study. Journal of Pediatric Surgery. 54: 1998-2003 |
| Trevisson E, Morbidoni V, Forzan M, et al. (2019) The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas. Molecular Genetics & Genomic Medicine. e616 |
| Cassina M, Calò A, Salviati L, et al. (2018) Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases. European Journal of Obstetrics & Gynecology and Reproductive Biology. 221: 23-27 |
| Alby C, Boutaud L, Bonnière M, et al. (2017) In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. Birth Defects Research |
| Trevisson E, Cassina M, Opocher E, et al. (2017) Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1. Journal of Neuro-Oncology |
| Cassina M, Cerqua C, Rossi S, et al. (2017) A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. European Journal of Human Genetics. 25: 371-375 |
| Cassina M, Cagnoli GA, Zuccarello D, et al. (2017) Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation. European Journal of Medical Genetics. 60: 22-31 |
| Russo S, Calzari L, Mussa A, et al. (2016) A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clinical Epigenetics. 8: 23 |
| Cassina M, Ruol M, Pertile R, et al. (2016) Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns. Birth Defects Research. Part a, Clinical and Molecular Teratology |
| Cassina M, Rigon C, Casarin A, et al. (2015) FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome. American Journal of Medical Genetics. Part A. 167: 1418-20 |