Works matching Penetrance

Results: 5000
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    Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.

    Published in:
    Cancers, 2021, v. 13, n. 20, p. 5068, doi. 10.3390/cancers13205068
    By:
    • Alekseeva, Ekaterina A.;
    • Babenko, Olga V.;
    • Kozlova, Valentina M.;
    • Ushakova, Tatiana L.;
    • Kazubskaya, Tatiana P.;
    • Nemtsova, Marina V.;
    • Chesnokova, Galina G.;
    • Mikhaylenko, Dmitry S.;
    • Bure, Irina V.;
    • Kalinkin, Alexey I.;
    • Kuznetsova, Ekaterina B.;
    • Tanas, Alexander S.;
    • Kutsev, Sergey I.;
    • Zaletaev, Dmitry V.;
    • Strelnikov, Vladimir V.
    Publication type:
    Article
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    No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study.

    Published in:
    Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2856, doi. 10.3390/jcm10132856
    By:
    • Dominguez-Valentin, Mev;
    • Plazzer, John-Paul;
    • Sampson, Julian R.;
    • Engel, Christoph;
    • Aretz, Stefan;
    • Jenkins, Mark A.;
    • Sunde, Lone;
    • Bernstein, Inge;
    • Capella, Gabriel;
    • Balaguer, Francesc;
    • Macrae, Finlay;
    • Winship, Ingrid M.;
    • Thomas, Huw;
    • Evans, Dafydd Gareth;
    • Burn, John;
    • Greenblatt, Marc;
    • de Vos tot Nederveen Cappel, Wouter H.;
    • Sijmons, Rolf H.;
    • Nielsen, Maartje;
    • Bertario, Lucio
    Publication type:
    Article
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    Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington's disease.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-88406-5
    By:
    • Pino, Rocio Del;
    • Acera, Maria Ángeles;
    • de Echevarrría, Amaia Ortiz;
    • Tijero, Beatriz;
    • Ruiz-Lopez, Marta;
    • Somme, Johanne;
    • Ruiz-Martínez, Javier;
    • Gabilondo, Andrea;
    • Croitoru, Ioana M.;
    • Pardina, Lara;
    • Ayo-Mentxakatorre, Naia;
    • Murueta-Goyena, Ane;
    • Gabilondo, Iñigo;
    • Sanchez-Pernaute, Rosario;
    • Fernández-Valle, Tamara;
    • Esteban, Juan Carlos Gómez
    Publication type:
    Article
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    Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

    Published in:
    Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1288, doi. 10.1111/epi.12194
    By:
    • Michelucci, Roberto;
    • Pasini, Elena;
    • Malacrida, Sandro;
    • Striano, Pasquale;
    • Bonaventura, Carlo Di;
    • Pulitano, Patrizia;
    • Bisulli, Francesca;
    • Egeo, Gabriella;
    • Santulli, Lia;
    • Sofia, Vito;
    • Gambardella, Antonio;
    • Elia, Maurizio;
    • Falco, Arturo;
    • Neve, Angela la;
    • Banfi, Paola;
    • Coppola, Giangennaro;
    • Avoni, Patrizia;
    • Binelli, Simona;
    • Boniver, Clementina;
    • Pisano, Tiziana
    Publication type:
    Article
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    Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525
    By:
    • Billes, Alexis;
    • Pujalte, Mathilde;
    • Jedraszak, Guillaume;
    • Amsallem, Daniel;
    • Boudry‐Labis, Elise;
    • Boute, Odile;
    • Bouquillon, Sonia;
    • Brischoux‐Boucher, Elise;
    • Callier, Patrick;
    • Coutton, Charles;
    • Denizet, Anne‐Laude Avice;
    • Dieterich, Klaus;
    • Kuentz, Paul;
    • Lespinasse, James;
    • Mazel, Benoît;
    • Morin, Gilles;
    • Amram, Florence;
    • Pennamen, Perrine;
    • Rio, Marlène;
    • Piard, Juliette
    Publication type:
    Article
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    The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

    Published in:
    Clinical Genetics, 2018, v. 93, n. 1, p. 60, doi. 10.1111/cge.13055
    By:
    • Rijken, J. A.;
    • Niemeijer, N. D.;
    • Jonker, M. A.;
    • Eijkelenkamp, K.;
    • Jansen, J. C.;
    • van Berkel, A.;
    • Timmers, H. J. L. M.;
    • Kunst, H. P. M.;
    • Bisschop, P. H. L. T.;
    • Kerstens, M. N.;
    • Dreijerink, K. M. A.;
    • van Dooren, M. F.;
    • van der Horst‐Schrivers, A. N. A.;
    • Hes, F. J.;
    • Leemans, C. R.;
    • Corssmit, E. P. M.;
    • Hensen, E. F.
    Publication type:
    Article
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    Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.

    Published in:
    European Journal of Human Genetics, 2004, v. 12, n. 11, p. 899, doi. 10.1038/sj.ejhg.5201256
    By:
    • Marroni, Fabio;
    • Aretini, Paolo;
    • D'Andrea, Emma;
    • Caligo, Maria Adelaide;
    • Cortesi, Laura;
    • Viel, Alessandra;
    • Ricevuto, Enrico;
    • Montagna, Marco;
    • Cipollini, Giovanna;
    • Federico, Massimo;
    • Santarosa, Manuela;
    • Marchetti, Paolo;
    • Bailey-Wilson, Joan E;
    • Bevilacqua, Generoso;
    • Parmigiani, Giovanni;
    • Presciuttini, Silvano
    Publication type:
    Article
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    Determinants of Disease Penetrance in PRPF31 -Associated Retinopathy.

    Published in:
    Genes, 2021, v. 12, n. 10, p. 1542, doi. 10.3390/genes12101542
    By:
    • McLenachan, Samuel;
    • Zhang, Dan;
    • Grainok, Janya;
    • Zhang, Xiao;
    • Huang, Zhiqin;
    • Chen, Shang-Chih;
    • Zaw, Khine;
    • Lima, Alanis;
    • Jennings, Luke;
    • Roshandel, Danial;
    • Moon, Sang Yoon;
    • Heath Jeffery, Rachael C.;
    • Attia, Mary S.;
    • Thompson, Jennifer A.;
    • Lamey, Tina M.;
    • McLaren, Terri L.;
    • De Roach, John;
    • Fletcher, Sue;
    • Chen, Fred K.
    Publication type:
    Article
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    Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4686, doi. 10.3390/ijms25094686
    By:
    • Gallego-Delgado, María;
    • Cámara-Checa, Anabel;
    • Rubio-Alarcón, Marcos;
    • Heredero-Jung, David;
    • de la Fuente-Blanco, Laura;
    • Rapún, Josu;
    • Plata-Izquierdo, Beatriz;
    • Pérez-Martín, Sara;
    • Cebrián, Jorge;
    • Moreno de Redrojo, Lucía;
    • García-Berrocal, Belén;
    • Delpón, Eva;
    • Sánchez, Pedro L.;
    • Villacorta, Eduardo;
    • Caballero, Ricardo
    Publication type:
    Article
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    Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01070-6
    By:
    • Schramm, Catherine;
    • Charbonnier, Camille;
    • Zaréa, Aline;
    • Lacour, Morgane;
    • Wallon, David;
    • CNRMAJ collaborators;
    • Andriuta, Daniela;
    • Anthony, Pierre;
    • Auriacombe, Sophie;
    • Balageas, Anna-Chloé;
    • Ballan, Guillaume;
    • Barbay, Mélanie;
    • Beaufils, Emilie;
    • Béjot, Yannick;
    • Belliard, Serge;
    • Benaiteau, Marie;
    • Bennys, Karim;
    • Blanc, Frédéric;
    • Bombois, Stéphanie;
    • Boutoleau Bretonnière, Claire
    Publication type:
    Article
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    Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01070-6
    By:
    • Schramm, Catherine;
    • Charbonnier, Camille;
    • Zaréa, Aline;
    • Lacour, Morgane;
    • Wallon, David;
    • CNRMAJ collaborators;
    • Andriuta, Daniela;
    • Anthony, Pierre;
    • Auriacombe, Sophie;
    • Balageas, Anna-Chloé;
    • Ballan, Guillaume;
    • Barbay, Mélanie;
    • Beaufils, Emilie;
    • Béjot, Yannick;
    • Belliard, Serge;
    • Benaiteau, Marie;
    • Bennys, Karim;
    • Blanc, Frédéric;
    • Bombois, Stéphanie;
    • Boutoleau Bretonnière, Claire
    Publication type:
    Article
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