Výsledky vyhledávání - "Sara Ronzani"

Akademický článek

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

Autor: Simona Mellone, Chiara Puricelli, Denise Vurchio, Sara Ronzani, Simone Favini, Arianna Maruzzi, Cinzia Peruzzi, Amanda Papa, Alice Spano, Fabio Sirchia, Giorgia Mandrile, Alessandra Pelle, Paolo Rasmini, Fabiana Vercellino, Andrea Zonta, Ivana Rabbone, Umberto Dianzani, Maurizio Viri, Mara Giordano

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%–5% of children and represents a public health challenge due to complexity of the etiology. Only few patients with unexpl

Externí odkaz: https://doaj.org/article/edf91342563a4c4b8c9586727480c023

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A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature

Autor: Ilaria Leone, Mara Giordano, Sara Ronzani, Marco Zavattaro, Flavia Prodam, Denise Vurchio, Marina Caputo, Simona Mellone

Publikováno v: Genes, Vol 12, Iss 1709, p 1709 (2021)
Genes

Primary ovarian insufficiency (POI) refers to an etiologically heterogeneous disorder characterized by hypergonadotropic hypogonadism that represents a major cause of infertility in women under 40 years of age. Most cases are apparently sporadic, but

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad7358ca5b05b233af6becbb171f961
https://www.mdpi.com/2073-4425/12/11/1709

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Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia

Autor: Simona Mellone, Enrica Bertelli, Barbara Roviglione, Denise Vurchio, Sara Ronzani, Andrea Secco, Enrico Felici, Mariachiara Martina Strozzi, Federico Schena, Mara Giordano

Publikováno v: Genes. 13:2190

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c412964b140854da8e7d1a690818c53
https://doi.org/10.3390/genes13122190

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A Long contiguous stretches of homozygosity disclosed a novel biallelic pathogenic variant in STAG3 causing Primary Ovarian Insufficiency

Autor: Flavia Prodam, Denise Vurchio, Marina Caputo, Ilaria Leone, Simona Mellone, Sara Ronzani, Mara Giordano, Marco Zavattaro

Background: Primary ovarian insufficiency (POI) refers to an etiologically heterogeneous disorder characterized by hypergonadotropic hypogonadism that represents a major cause of infertility in women under 40 years. Most cases of isolated POI still a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1042ff168d5f33a3c320e448d8866139
https://doi.org/10.21203/rs.3.rs-447879/v1

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