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F

Francesco Testa

university of campania luigi vanvitelli
H指数:38
被引数:7,532

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Clinical and molecular features of PRCD-associated retinopathy

PRCD相关视网膜病变的临床和分子特征

Acta Ophthalmologica
IF2.8
2026-09-200
OAAI
Vasil Kostin; Karolina Kaminska; Marco Cattaneo; Enrico Ambrosini; Carmen Ayuso; Almudena Ávila-Fernández; Béatrice Bocquet; Luisa Coutinho-Santos; Benedetto Falsini; Lidia Fernandez-Caballero Palomeque; Bohdan Kousal; Petra Liskova; Inmaculada Martín-Mérida; María Juliana Ballesta-Martínez; Daan Panneman; Susanne Roosing; Isabelle Meunier; José M. Millán; Monika Pankievič; Irene Perea-Romero; Virginie Peter; Giorgio Placidi; Cristina Santos; Francesca Simonelli; Ana Berta Sousa; Francesco Testa; Marie Vajter; Marianna Weener; Mathieu Quinodoz; Carlo Rivolta; Giacomo Calzetti
Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series

双等位基因RDH11变异导致伴有早期发病白内障和神经发育迟滞的综合征性色素视网膜炎：一项多中心病例系列研究

European Journal of Human Genetics
IF4.6
2026-09-160
OA
Marianthi Karali; Susanne Kohl; Francesco Testa; Eleanor Hay; Yasas D. Kolambage; German Demidov; Tobias Haack; Hamid Ghaedi; Siying Lin; Gemma Natale; Vindya Subasinghe; Pyara Rathnayake; Sarah Wörz; Gavin Arno; Rebecca Buchert; Katarina Stingl; Francesca Simonelli; Sandro Banfi
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-12-131
OAAI
Karali, Marianthi; Garcia-Garcia, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik P. N.; Salameh, Manar; Barberan-Martinez, Pilar; Rodriguez-Munoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millan, Jose M.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-07-318
OAAI
Dollfus, Helene; Lilien, Marc R.; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M.; Cetiner, Metin; van den Akker, Erica L. T.; Pechhacker, Monika Grudzinska; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F.; Simonelli, Francesca; Gouronc, Aurelie; Gavard, Amelie; van Haelst, Mieke M.; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P.; Mosbah, Helena; Van Eerde, Albertien M.; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2024-06-172
OAAI
Testa, Francesco; Carreno, Ester; van den Born, L. Ingeborgh; Melillo, Paolo; Perea-Romero, Irene; Di Iorio, Valentina; Risca, Giulia; Iodice, Clemente Maria; Pennings, Ronald J. E.; Karali, Marianthi; Banfi, Sandro; Auricchio, Alberto; Galimberti, Stefania; Ayuso, Carmen; Simonelli, Francesca
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-07-3113
OAAI
Murro, Vittoria; Banfi, Sandro; Testa, Francesco; Iarossi, Giancarlo; Falsini, Benedetto; Sodi, Andrea; Signorini, Sabrina; Iolascon, Achille; Russo, Roberta; Mucciolo, Dario Pasquale; Caputo, Roberto; Bacci, Giacomo Maria; Bargiacchi, Sara; Turco, Simona; Fortini, Stefania; Simonelli, Francesca
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

在意大利的一个中心进行的大型患者队列中遗传性视网膜疾病的遗传流行病学

SCIENTIFIC REPORTS
IF3.9
2022-12-0239
OAAI
Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P. M.; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2022-02-0712
OAAI
Testa, Francesco; Murro, Vittoria; Signorini, Sabrina; Colombo, Leonardo; Iarossi, Giancarlo; Parmeggiani, Francesco; Falsini, Benedetto; Salvetti, Anna Paola; Brunetti-Pierri, Raffaella; Aprile, Giorgia; Bertone, Chiara; Suppiej, Agnese; Romano, Francesco; Karali, Marianthi; Donati, Simone; Melillo, Paolo; Sodi, Andrea; Quaranta, Luciano; Rossetti, Luca; Buzzonetti, Luca; Chizzolini, Marzio; Rizzo, Stanislao; Staurenghi, Giovanni; Banfi, Sandro; Azzolini, Claudio; Simonelli, Francesca
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs
HUMAN MOLECULAR GENETICS
IF3.2
2020-06-1216
OAAI
Bedoni, Nicola; Quinodoz, Mathieu; Pinelli, Michele; Cappuccio, Gerarda; Torella, Annalaura; Nigro, Vincenzo; Testa, Francesco; Simonelli, Francesca; Corton, Marta; Lualdi, Susanna; Lanza, Federica; Morana, Giovanni; Ayuso, Carmen; Di Rocco, Maja; Filocamo, Mirella; Banfi, Sandro; Brunetti-Pierri, Nicola; Superti-Furga, Andrea; Rivolta, Carlo
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

RAX2的双等位基因序列和结构变异是常染色体隐性遗传性视网膜疾病的新原因

GENETICS IN MEDICINE
IF6.2
2019-06-0115
OAAI
Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride

研究方向

暂未获取到该数据
F
Francesca Simonelli
H 指数:47论文数:335被引数:1.4万
S
Sandro Banfi
H 指数:59论文数:260被引数:1.8万
S
Settimio Rossi
H 指数:37论文数:167被引数:7,377
P
Paolo Melillo
H 指数:32论文数:143被引数:4,292
V
Valentina Di Iorio
H 指数:21论文数:80被引数:1,233
M
Marianthi Karali
H 指数:24论文数:80被引数:2,016
A
Alberto Auricchio
H 指数:64论文数:245被引数:1.5万
E
Enrico Maria Surace
H 指数:40论文数:95被引数:7,015
C
Carmen Ayuso
H 指数:68论文数:604被引数:1.8万
R
Raffaella Brunetti‐Pierri
H 指数:12论文数:34被引数:401