Mastromoro相关文献与解析，生知库 | 链接生命科学的每一步

NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature

NUAK2致病变异与人类神经管缺陷明确相关：新的基因型-表型相关性及文献综述

Mastromoro, Gioia; Dello Russo, Claudio; Mariani, Stefania; Bucossi, Serena; Riccardi, Riccardo; Pal, Amit; Squitti, Rosanna; Dangi, Mehak; Pizzuti, Antonio; Rongioletti, Mauro Ciro Antonio

Human

发表日期：2025

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Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis

产前全基因组测序分析（外显子组或全基因组）在检测胎儿中枢神经系统异常致病性单核苷酸变异中的应用：系统评价和荟萃分析

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-024-01590-2

Marchionni, Enrica; Guadagnolo, Daniele; Mastromoro, Gioia; Pizzuti, Antonio

神经科学

发表日期：2024

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Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

DYNC2H1相关骨骼纤毛病的临床表现多样，包括埃利斯-范克雷费尔德综合征。

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-022-01276-7

Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro

发表日期：2023

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Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

ATM基因杂合致病性无义变异与胃癌高发家族相关

期刊:Biomedicines

影响因子:3.9

doi:10.3390/biomedicines11072062

Guadagnolo, Daniele; Mastromoro, Gioia; Marchionni, Enrica; Germani, Aldo; Libi, Fabio; Sadeghi, Soha; Savio, Camilla; Petrucci, Simona; De Marchis, Laura; Piane, Maria; Pizzuti, Antonio

A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series

颈项透明层增厚与囊状水瘤：胎儿基因检测的教训——文献系统综述、荟萃分析和病例系列研究

期刊:Diagnostics

影响因子:3.3

doi:10.3390/diagnostics13010048

Mastromoro, Gioia; Guadagnolo, Daniele; Khaleghi Hashemian, Nader; Bernardini, Laura; Giancotti, Antonella; Piacentini, Gerardo; De Luca, Alessandro; Pizzuti, Antonio

发表日期：2022

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Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

基因组断点分析揭示了意大利遗传性乳腺癌家族中 CHEK2 大片段重复的特征

期刊:Diagnostics

影响因子:3.3

doi:10.3390/diagnostics12071520

Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

染色体微阵列分析在孤立性心血管畸形胎儿中的应用：一项多中心研究、文献系统综述和荟萃分析

期刊:Diagnostics

影响因子:

doi:10.3390/diagnostics12061328

Mastromoro, Gioia; Khaleghi Hashemian, Nader; Guadagnolo, Daniele; Giuffrida, Maria Grazia; Torres, Barbara; Bernardini, Laura; Ventriglia, Flavia; Piacentini, Gerardo; Pizzuti, Antonio

发表日期：2022

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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

SOS2基因变异是努南综合征的一种罕见病因，尤其容易发生淋巴并发症。

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-020-00708-6

Lissewski, Christina; Chune, Valérie; Pantaleoni, Francesca; De Luca, Alessandro; Capri, Yline; Brinkmann, Julia; Lepri, Francesca; Daniele, Paola; Leenders, Erika; Mazzanti, Laura; Scarano, Emanuela; Radio, Francesca Clementina; Kutsche, Kerstin; Kuechler, Alma; Gérard, Marion; Ranguin, Kara; Legendre, Marine; Vial, Yoann; van der Burgt, Ineke; Rinne, Tuula; Andreucci, Elena; Mastromoro, Gioia; Digilio, Maria Cristina; Cave, Hélène; Tartaglia, Marco; Zenker, Martin

发表日期：2021

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Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

肌阵挛性癫痫：一例儿童患者轻型表型的病例报告，扩展了KCNA2致病变异的临床谱

期刊:Frontiers in Neurology

影响因子:2.8

doi:10.3389/fneur.2021.806516

Perilli, Lorenzo; Mastromoro, Gioia; Murciano, Manuel; Amedeo, Ilaria; Avenoso, Federica; Pizzuti, Antonio; Guido, Cristiana Alessia; Spalice, Alberto

Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review

胎儿水肿：非特异性超声表现的遗传学解析——一项综合综述

NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature

NUAK2致病变异与人类神经管缺陷明确相关：新的基因型-表型相关性及文献综述

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis

产前全基因组测序分析（外显子组或全基因组）在检测胎儿中枢神经系统异常致病性单核苷酸变异中的应用：系统评价和荟萃分析

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

DYNC2H1相关骨骼纤毛病的临床表现多样，包括埃利斯-范克雷费尔德综合征。

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

ATM基因杂合致病性无义变异与胃癌高发家族相关

A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series

颈项透明层增厚与囊状水瘤：胎儿基因检测的教训——文献系统综述、荟萃分析和病例系列研究

Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

基因组断点分析揭示了意大利遗传性乳腺癌家族中 CHEK2 大片段重复的特征

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

染色体微阵列分析在孤立性心血管畸形胎儿中的应用：一项多中心研究、文献系统综述和荟萃分析

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

SOS2基因变异是努南综合征的一种罕见病因，尤其容易发生淋巴并发症。

Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

肌阵挛性癫痫：一例儿童患者轻型表型的病例报告，扩展了KCNA2致病变异的临床谱