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S

Silvia Russo

IRCCS Istituto Auxologico Italiano
H指数:46
被引数:7,518

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Author Correction: Diagnosis and management of Silver–Russell syndrome: second international consensus statement

作者更正：Silver–Russell综合征的诊断与管理：第二份国际共识声明

Nature Reviews Endocrinology
IF40
2026-09-300
PRE
Emma Wakeling; Justin H. Davies; Eloïse Giabicani; Susan M. O’Connell; Madeleine D. Harbison; Amélie Perriere; Jennifer B. Salem; Matthias Begemann; Gerhard Binder; Frédéric Brioude; Dayna Morris-Carney; Jovanna Dahlgren; Bea Dickinson; Bruno Donadille; Beatrice Dubern; Katja Eggermann; Gabriella Gazdagh; Karen Grønskov; Anita C. Hokken Koelega; Youn Hee Jee; Alicia Jurians; Masayo Kagami; Satomi Koyama; Emilie Kulak; Asmahane Ladjouze; Paola Lombardi; Mohamad Maghnie; Louise McClelland; Veronica Mericq; Giuseppa Patti; Klaudia Raabe; Andrea Riccio; Silvia Russo; Helen L. Storr; I. Karen Temple; Zeynep Tümer; Thomas Eggermann; Deborah J. G. Mackay; Irene Netchine
Diagnosis and management of Silver–Russell syndrome: second international consensus statement

银- Russell 综合征的诊断与管理：第二届国际共识声明

Nature Reviews Endocrinology
IF40
2026-09-230
PRE
Emma Wakeling; Justin H. Davies; Eloïse Giabicani; Susan M. O’Connell; Madeleine D. Harbison; Amélie Perriere; Jennifer B. Salem; Matthias Begemann; Gerhard Binder; Frédéric Brioude; Dayna Morris-Carney; Jovanna Dahlgren; Bea Dickinson; Bruno Donadille; Beatrice Dubern; Katja Eggermann; Gabriella Gazdagh; Karen Grønskov; Anita C. Hokken Koelega; Youn Hee Jee; Alicia Jurians; Masayo Kagami; Satomi Koyama; Emilie Kulak; Asmahane Ladjouze; Paola Lombardi; Mohamad Maghnie; Louise McClelland; Veronica Mericq; Guiseppa Patti; Klaudia Raabe; Andrea Riccio; Silvia Russo; Helen L. Storr; I. Karen Temple; Zeynep Tümer; Thomas Eggermann; Deborah J. G. Mackay; Irene Netchine
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome

MEG8:Int2-DMR在携带致病变异PLAG1的患者中的低甲基化，提示了chr14q32印记簇在Silver-Russell综合征中的新作用

Clinical Epigenetics
IF4.4
2025-11-240
OA
Emilia D’Angelo; Laura Pignata; Francesco Cecere; Alessandro Vimercati; Maria Vittoria Cubellis; Abu Saadat; Carlo Giaccari; Nathalie Thibaud; Thomas Eggermann; Jose Ramon Fernández-Fructuoso; Silvia Russo; Irène Netchine; Flavia Cerrato; Andrea Riccio; Frédéric Brioude
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association

贝克威思-威德曼谱系 (BWSp)：意大利BWSp协会科学委员会关于诊断、管理和随访的最新进展

Italian Journal of Pediatrics
IF3.1
2025-10-240
OAAI
Silvia Russo; Donatella Milani; Camilla Meossi; Lorenzo Marcucci; Roberta Pajno; Niccolò Butti; Guido Cocchi; Pierpaola Tannorella; Monica Bertoletti; Diana Carli; Maria Costanza Meazzini; Chiara Tortora; Mario Ferrari; Giuseppe Zampino; Stefania Massuras; Giovanni Battista Ferrero; Paola Quarello; Giulia Rossetti; Rosario Montirosso; Maurizio De Pellegrin; Andrea Riccio; Alessandro Mussa
The contribution of Subcortical Maternal Complex Gene Variants in Recurrent Implantation Failure (RIF) and Recurrent Pregnancy Losses (RPL) beyond Beckwith-Wiedemann Syndrome (BWS) in newborns

子皮质母系复合基因变异在反复着床失败（RIF）和复发性妊娠丢失（RPL）中的贡献，及其在新生儿中与贝克威思-威德曼综合征（BWS）的关系

HUMAN REPRODUCTION
IF6.1
2025-06-010
OAAI
Di Stefano, G.; Polenghi, G.; Carullo, G.; Ferraro, C.; Bellinghieri, R.; Magni, B.; Sichenze, L.; Russo, S.; Tannorella, P.; Sterpi, V; Pirotta, M.; Perego, L.; Marinello, D.; Vigano, P.; Somigliana, E.
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

第二代和第三代测序数据的种系变异和DNA甲基化分析的最佳实践

HUMAN GENOMICS
IF4.3
2024-11-050
OAAI
Bonfiglio, Ferdinando; Legati, Andrea; Lasorsa, Vito Alessandro; Palombo, Flavia; De Riso, Giulia; Isidori, Federica; Russo, Silvia; Furini, Simone; Merla, Giuseppe; Coppede, Fabio; Tartaglia, Marco; Bruselles, Alessandro; Pippucci, Tommaso; Ciolfi, Andrea; Pinelli, Michele; Capasso, Mario
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2024-10-162
OA
Vimercati, Alessandro; Tannorella, Pierpaola; Guzzetti, Sara; Calzari, Luciano; Gentilini, Davide; Manfredini, Emanuela; Gori, Giulia; Gaudino, Rossella; Antona, Vincenzo; Piccione, Maria; Daolio, Cecilia; Auricchio, Renata; Sirchia, Fabio; Minelli, Antonella; Rossi, Elena; Bellini, Melissa; Biasucci, Giacomo; Raucci, Annalisa Russo; Pozzobon, Gabriella; Patti, Giuseppa; Napoli, Flavia; Larizza, Lidia; Maghnie, Mohamad; Russo, Silvia
A long way to syndromic short stature

综合征性身材矮小的漫长道路

ITALIAN JOURNAL OF PEDIATRICS
IF3.1
2024-09-270
OAAI
Gaudioso, Federica; Meossi, Camilla; Pezzani, Lidia; Grilli, Federico; Silipigni, Rosamaria; Russo, Silvia; Masciadri, Maura; Vimercati, Alessandro; Marchisio, Paola Giovanna; Bedeschi, Maria Francesca; Milani, Donatella
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
CLINICAL EPIGENETICS
IF4.4
2024-08-011
OAAI
Mackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaityte, Laima; Burnyte, Birute; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Ounap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irene; Eggermann, Thomas; Bliek, Jet; Tumer, Zeynep
Corrigendum: Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age (vol12, 975511, 2022)

勘误: 银罗素综合征患儿的青春期时间与出生时胎龄小的比较 (vol12，975511，2022)

FRONTIERS IN ENDOCRINOLOGY
IF4.6
2023-03-150
OAAI
Patti, Giuseppa; Malerba, Federica; Calevo, Maria Grazia; Schiavone, Maurizio; Scaglione, Marco; Casalini, Emilio; Russo, Silvia; Fava, Daniela; Bassi, Marta; Napoli, Flavia; Allegri, Anna Elsa Maria; D'Annunzio, Giuseppe; Gastaldi, Roberto; Maghnie, Mohamad; Di Iorgi, Natascia
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
CLINICAL EPIGENETICS
IF4.4
2022-11-0720
OAAI
Mackay, Deborah; Bliek, Jet; Kagami, Masayo; Tenorio-Castano, Jair; Pereda, Arrate; Brioude, Frederic; Netchine, Irene; Papingi, Dzhoy; de Franco, Elisa; Lever, Margaret; Sillibourne, Julie; Lombardi, Paola; Gaston, Veronique; Tauber, Maithe; Diene, Gwenaelle; Bieth, Eric; Fernandez, Luis; Nevado, Julian; Tumer, Zeynep; Riccio, Andrea; Maher, Eamonn R.; Beygo, Jasmin; Tannorella, Pierpaola; Russo, Silvia; de Nanclares, Guiomar Perez; Temple, I. Karen; Ogata, Tsutomu; Lapunzina, Pablo; Eggermann, Thomas
Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age

银罗素综合征儿童的青春期时间与胎龄小的儿童相比

FRONTIERS IN ENDOCRINOLOGY
IF4.6
2022-08-243
OAAI
Patti, Giuseppa; Malerba, Federica; Calevo, Maria Grazia; Schiavone, Maurizio; Scaglione, Marco; Casalini, Emilio; Russo, Silvia; Fava, Daniela; Bassi, Marta; Napoli, Flavia; Allegri, Anna Elsa Maria; D'Annunzio, Giuseppe; Gastaldi, Roberto; Maghnie, Mohamad; Di Iorgi, Natascia
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

导致复发性葡萄胎的KHDC3L突变导致卵母细胞全基因组DNA甲基化丧失和受精后持续的印记缺陷

GENOME MEDICINE
IF11.2
2019-12-1750
OAAI
Demond, Hannah; Anvar, Zahra; Jahromi, Bahia Namavar; Sparago, Angela; Verma, Ankit; Davari, Maryam; Calzari, Luciano; Russo, Silvia; Jahromi, Mojgan Akbarzadeh; Monk, David; Andrews, Simon; Riccio, Andrea; Kelsey, Gavin

研究方向

暂未获取到该数据
L
Lidia Larizza
H 指数:60论文数:550被引数:1.1万
A
Andrea Riccio
H 指数:52论文数:210被引数:9,816
L
Luciano Calzari
H 指数:19论文数:92被引数:1,309
D
Deborah Mackay
H 指数:54论文数:183被引数:1.1万
G
Giovanni Battista Ferrero
H 指数:48论文数:378被引数:1.3万
M
Mohamad Maghnie
H 指数:55论文数:483被引数:1.1万
Z
Zeynep Tümer
H 指数:55论文数:327被引数:1.1万
F
Frédéric Brioude
H 指数:29论文数:115被引数:3,512
I
Irène Netchine
H 指数:47论文数:237被引数:8,249
T
Thomas Eggermann
H 指数:61论文数:493被引数:1.6万