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Page 1
Landscape of Constitutional SOX4 Variation in Human Disorders.
Genes (Basel). 2024 Jan 25;15(2):158. doi: 10.3390/genes15020158.
Genes (Basel). 2024.
PMID: 38397148
Free PMC article.
Review.
Characterization of BRCA Deficiency in Ovarian Cancer.
Barbero G, Zuntini R, Magini P, Desiderio L, Bonaguro M, Perrone AM, Rubino D, Grippa M, De Leo A, Ceccarelli C, Godino L, Miccoli S, Ferrari S, Santini D, De Iaco P, Zamagni C, Innella G, Turchetti D.
Barbero G, et al. Among authors: grippa m.
Cancers (Basel). 2023 Feb 28;15(5):1530. doi: 10.3390/cancers15051530.
Cancers (Basel). 2023.
PMID: 36900320
Free PMC article.
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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V.
Angelozzi M, et al. Among authors: grippa m.
J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1.
J Med Genet. 2022.
PMID: 35232796
Free PMC article.
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Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Zuntini R, Ferrari S, Bonora E, Buscherini F, Bertonazzi B, Grippa M, Godino L, Miccoli S, Turchetti D.
Zuntini R, et al. Among authors: grippa m.
Front Genet. 2018 Sep 11;9:378. doi: 10.3389/fgene.2018.00378. eCollection 2018.
Front Genet. 2018.
PMID: 30254663
Free PMC article.
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COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C.
Pettenuzzo I, et al. Among authors: grippa m.
Eur J Hum Genet. 2024 May 3. doi: 10.1038/s41431-024-01615-w. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38702428
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