Mutated ASXL1 and number of somatic mutations as possible indicators of progression to chronic myelomonocytic leukemia of myelodysplastic syndromes with single or multilineage dysplasia

Autor: Ana Valencia-Martinez, Alessandro Sanna, Erico Masala, Elisa Contini, Alice Brogi, Antonella Gozzini, Valeria Santini

Publikováno v: Haematologica, Vol 102, Iss 9 (2017)

Externí odkaz: https://doaj.org/article/ccb065b9ffd0486f8ddaa8c66098d204

Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma

Autor: Michaela Luconi, Daniele Guasti, Massimo Mannelli, Giuseppina De Filpo, Andrea Valeri, Daniele Bani, Tonino Ercolino, Massimiliano Chetta, Elisa Contini, Letizia Canu, Mario Maggi, Elena Rapizzi, Viola Serio

Publikováno v: International Journal of Endocrinology
International Journal of Endocrinology, Vol 2020 (2020)

The genetic approach of pheochromocytomas and paragangliomas has changed in the last two decades. Nowadays, we know that more than 40% of patients have a germline mutation in one of the susceptibility genes identified to date. Our aim is to underline

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7e7407f73c03e45018ffe3a9c37b2d3

A novelPAX1null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency

Autor: Francesca Gensini, Gabriele Lorenzo Capone, Elisa Contini, Alessandro Barilaro, Berardino Porfirio, Anna Laura Putignano, Roberta Sestini, Irene Paganini, Laura Papi, Irene Giotti, Annabella Marozza

Publikováno v: Clinical Genetics. 92:664-668

Otofaciocervical syndrome is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies, and mild intellectual disability. Autosomal dominant cases are caused

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f0aa91497b5734f665a7283150aa0ef2
https://doi.org/10.1111/cge.13085

Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing

Autor: Giuseppina Marseglia, Elisa Contini, Niccolò Bartalucci, Alessandro M. Vannucchi, Elisabetta Pelo, Paola Guglielmelli, Simone Romagnoli, Alberto Magi

Publikováno v: Clinical chemistry. 65(12)

To the Editor: Chromosomal abnormalities causing genomic imbalance are a major cause of congenital developmental defects and intellectual disability, constituting the leading cause of stillbirth and birth with malformations. In addition to the noninv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2359c13561f8208fcc3aba748c972fa
https://pubmed.ncbi.nlm.nih.gov/31645339

Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

Autor: Csilla Krausz, Esther Sleddens-Linkels, Eduard Ruiz-Castañé, Andrea Enguita-Marruedo, Elisa Contini, Daniel Moreno-Mendoza, M. Benelli, Alessandro Natali, Chiara Chianese, Mario Maggi, Giovanni M. Colpi, Willy M. Baarends, Antoni Riera-Escamilla

Publikováno v: HUMAN REPRODUCTION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Human Reproduction, 34(6), 978-988. Oxford University Press

STUDY QUESTION What is the diagnostic potential of next generation sequencing (NGS) based on a ‘mouse azoospermia’ gene panel in human non-obstructive azoospermia (NOA)? SUMMARY ANSWER The diagnostic performance of sequencing a gene panel based o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cb31866ee5a4eed352beacff258a178
https://pubmed.ncbi.nlm.nih.gov/32715309