Works matching Penetrance

Results: 5000

Allelic penetrance approach as a tool to model two-locus interaction in complex binary traits.

Published in:

Heredity, 2007, v. 99, n. 2, p. 173, doi. 10.1038/sj.hdy.6800979

By:

Sepúlveda, N.;
Paulino, C. D.;
Carneiro, J.;
Penha-Gonçalves, C.

Publication type:

Article

Quality-of-Life Assessment in Patients Undergoing Mastectomy and Breast Reconstruction for Moderate-Penetrance Gene-Related Breast Cancer.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 4, p. 1140, doi. 10.3390/jcm14041140

By:

Cătană, Andreea;
Iordănescu, Irina;
Filip, Gheorghe Gerald;
Filip, Simona;
Militaru, Mariela Sanda;
Pătrășcanu, Andrada-Adelaida;
Pîrlog, Lorin-Manuel

Publication type:

Article

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

Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.

Published in:

Clinical Genetics, 2016, v. 90, n. 2, p. 118, doi. 10.1111/cge.12758

By:

Rose, A.M.;
Bhattacharya, S.S.

Publication type:

Article

Comparison of expressivity and penetrance of the double podding trait and yield components based on reciprocal crosses of kabuli and desi chickpeas ( Cicer arietinum L.).

Published in:

Euphytica, 2014, v. 196, n. 3, p. 331, doi. 10.1007/s10681-013-1036-6

By:

Yasar, M.;
Ceylan, F.;
Ikten, C.;
Toker, C.

Publication type:

Article

SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Published in:

Journal of Cancer Research & Clinical Oncology, 2017, v. 143, n. 8, p. 1421, doi. 10.1007/s00432-017-2397-3

By:

Jochmanova, Ivana;
Wolf, Katherine;
King, Kathryn;
Nambuba, Joan;
Wesley, Robert;
Martucci, Victoria;
Raygada, Margarita;
Adams, Karen;
Prodanov, Tamara;
Fojo, Antonio;
Lazurova, Ivica;
Pacak, Karel

Publication type:

Article

A Population Survey of the Penetrance of Contact Lens Wear in Australia: Rationale, Methodology and Results.

Published in:

Ophthalmic Epidemiology, 2009, v. 16, n. 5, p. 275, doi. 10.3109/09286580903144753

By:

Edwards, Katie;
Keay, Lisa;
Naduvilath, Thomas;
Stapleton, Fiona

Publication type:

Article

The development, penetrance, and seed vigour of multi-ovary wheat and its application in hybrid breeding.

Published in:

Crop & Pasture Science, 2019, v. 70, n. 9, p. 781, doi. 10.1071/CP19140

By:

Guo, Jialin;
Zhang, Gaisheng;
Song, Yulong;
Ma, Shoucai;
Niu, Na;
Wang, Junwei

Publication type:

Article

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families.

Published in:

European Journal of Neurology, 2009, v. 16, n. 3, p. 337, doi. 10.1111/j.1468-1331.2008.02429.x

By:

Saporta, M. A. C.;
Zaros, C.;
Cruz, M. W.;
Andr, C.;
Misrahi, M.;
Bonaïti-Pelli, C.;
Planté-Bordeneuve, V.

Publication type:

Article

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

Published in:

2019

By:

Barreda-Sánchez, María;
Buendía-Martínez, Juan;
Glover-López, Guillermo;
Carazo-Díaz, Carmen;
Ballesta-Martínez, María Juliana;
López-González, Vanesa;
Sánchez-Soler, María José;
Rodriguez-Peña, Lidya;
Serrano-Antón, Ana Teresa;
Gil-Ferrer, Remedios;
Martínez-Romero, Maria del Carmen;
Carbonell-Meseguer, Pablo;
Guillén-Navarro, Encarna

Publication type:

journal article

Hereditary elliptocytosis with variable expression and incomplete penetrance in a Chinese family.

Published in:

British Journal of Haematology, 2019, v. 186, n. 5, p. e159, doi. 10.1111/bjh.15999

By:

Wang, Xiong;
Liu, Aiguo;
Huang, Ming;
Shen, Na;
Lu, Yanjun;
Hu, Qun

Publication type:

Article

Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.

Published in:

Amyloid, 2008, v. 15, n. 3, p. 181, doi. 10.1080/13506120802193720

By:

Hellman, Urban;
Alarcon, Flora;
Lundgren, Hans-Erik;
Suhr, Ole B.;
Bonaiti-PelliÉ, Catherine;
Planté-Bordeneuve, Violaine

Publication type:

Article

Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.

Published in:

Cerebellum, 2020, v. 19, n. 2, p. 208, doi. 10.1007/s12311-019-01098-2

By:

Cornejo-Olivas, Mario;
Inca-Martinez, Miguel;
Castilhos, Raphael Machado;
Furtado, Gabriel Vasata;
Mattos, Eduardo Preusser;
Bampi, Giovana Bavia;
Leistner-Segal, Sandra;
Marca, Victoria;
Mazzetti, Pilar;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Assessment of penetrance and expressivity of RNAi-mediated silencing of the Arabidopsis phytoene desaturase gene.

Published in:

New Phytologist, 2005, v. 167, n. 3, p. 751, doi. 10.1111/j.1469-8137.2005.01454.x

By:

Wang, Tao;
Iyer, Lakshminarayan M.;
Pancholy, Rakesh;
Shi, Xiangyu;
Hall, Timothy C.

Publication type:

Article

Mitochondrial Mechanisms of LRRK2 G2019S Penetrance.

Published in:

Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00881

By:

Delcambre, Sylvie;
Ghelfi, Jenny;
Ouzren, Nassima;
Grandmougin, Léa;
Delbrouck, Catherine;
Seibler, Philip;
Wasner, Kobi;
Aasly, Jan O.;
Klein, Christine;
Trinh, Joanne;
Pereira, Sandro L.;
Grünewald, Anne

Publication type:

Article

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31 -Associated Retinitis Pigmentosa in a Danish Cohort.

Published in:

Genes, 2023, v. 14, n. 2, p. 435, doi. 10.3390/genes14020435

By:

Lisbjerg, Kristian;
Grønskov, Karen;
Bertelsen, Mette;
Møller, Lisbeth Birk;
Kessel, Line

Publication type:

Article

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

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Published in:

Genes, 2020, v. 11, n. 2, p. 179, doi. 10.3390/genes11020179

By:

Green, David J.;
Sallah, Shalaw R.;
Ellingford, Jamie M.;
Lovell, Simon C.;
Sergouniotis, Panagiotis I.

Publication type:

Article

Bayesian Semiparametric Estimation of Cancer-Specific Age-at-Onset Penetrance With Application to Li-Fraumeni Syndrome.

Published in:

Journal of the American Statistical Association, 2019, v. 114, n. 526, p. 541, doi. 10.1080/01621459.2018.1482749

By:

Shin, Seung Jun;
Yuan, Ying;
Strong, Louise C.;
Bojadzieva, Jasmina;
Wang, Wenyi

Publication type:

Article

Determining Inheritance Distributions via Stochastic Penetrances.

Published in:

Journal of the American Statistical Association, 2003, v. 98, n. 464, p. 1035, doi. 10.1198/016214503000000990

By:

Hössjer, Ola

Publication type:

Article

Calculating variant penetrance from family history of disease and average family size in population-scale data.

Published in:

Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01142-7

By:

Spargo, Thomas P.;
Opie-Martin, Sarah;
Bowles, Harry;
Lewis, Cathryn M.;
Iacoangeli, Alfredo;
Al-Chalabi, Ammar

Publication type:

Article

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

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

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;
Boland, Anne;
Deleuze, Jean-François;
Olaso, Robert;
Alarcon, Flora;
Campion, Dominique;
Nuel, Grégory;
Nicolas, Gaël

Publication type:

Article

The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.

Published in:

Acta Diabetologica, 2023, v. 60, n. 7, p. 989, doi. 10.1007/s00592-023-02065-4

By:

Silvestri, Francesca;
Tromba, Valeria;
Schiaffini, Riccardo;
Costantino, Francesco;
Barbetti, Fabrizio;
Prudente, Sabrina

Publication type:

Article

Penetrance interactions of colour pattern loci in the African Monarch and their implications for the evolution of dominance.

Published in:

Ecology & Evolution (20457758), 2024, v. 14, n. 2, p. 1, doi. 10.1002/ece3.11024

By:

ffrench‐Constant, Richard H.;
Bennie, Jonathan;
Gordon, Ian J.;
Depew, Lorna;
Smith, David A. S.

Publication type:

Article

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

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance.

Published in:

Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00953

By:

Scimone, Concetta;
Donato, Luigi;
Katsarou, Zoe;
Bostantjopoulou, Sevasti;
D'Angelo, Rosalia;
Sidoti, Antonina

Publication type:

Article

The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.

Published in:

Hereditary Cancer in Clinical Practice, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1897-4287-12-12

By:

Grindedal, Eli Marie;
Aarset, Harald;
Bjørnevoll, Inga;
Røyset, Elin;
Mæhle, Lovise;
Stormorken, Astrid;
Heramb, Cecilie;
Medvik, Heidi;
Møller, Pål;
Sjursen, Wenche

Publication type:

Article

MLEP: an R package for exploring the maximum likelihood estimates of penetrance parameters.

Published in:

BMC Research Notes, 2012, v. 5, n. 1, p. 465, doi. 10.1186/1756-0500-5-465

By:

Yuki Sugaya

Publication type:

Article

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.

Published in:

Pediatric Rheumatology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12969-022-00743-1

By:

Chang, Shao-Yu;
Kambe, Naotomo;
Fan, Wen-Lang;
Huang, Jing-Long;
Lee, Wen-I;
Wu, Chao-Yi

Publication type:

Article

High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy.

Published in:

European Heart Journal, 2020, v. 41, n. 14, p. 1401, doi. 10.1093/eurheartj/ehz570

By:

Chivulescu, Monica;
Lie, Øyvind H;
Popescu, Bogdan A;
Skulstad, Helge;
Edvardsen, Thor;
Jurcut, Ruxandra O;
Haugaa, Kristina H

Publication type:

Article

Variable penetrance of Nab3 granule accumulation quantified by a new tool for high-throughput single-cell granule analysis.

Published in:

Current Genetics, 2022, v. 68, n. 3/4, p. 467, doi. 10.1007/s00294-022-01234-2

By:

Hunn, Jeremy C.;
Hutchinson, Katherine M.;
Kelley, Joshua B.;
Reines, Daniel

Publication type:

Article

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367

By:

Hitti-Malin, Rebekkah J.;
Panneman, Daan M.;
Corradi, Zelia;
Boonen, Erica G. M.;
Astuti, Galuh;
Dhaenens, Claire-Marie;
Stöhr, Heidi;
Weber, Bernhard H. F.;
Sharon, Dror;
Banin, Eyal;
Karali, Marianthi;
Banfi, Sandro;
Ben-Yosef, Tamar;
Glavač, Damjan;
Farrar, G. Jane;
Ayuso, Carmen;
Liskova, Petra;
Dudakova, Lubica;
Vajter, Marie;
Ołdak, Monika

Publication type:

Article

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.920390

By:

Kingdom, Rebecca;
Wright, Caroline F.

Publication type:

Article

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.

Published in:

Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01333-4

By:

Beaumont, Robin N.;
Hawkes, Gareth;
Gunning, Adam C.;
Wright, Caroline F.

Publication type:

Article

Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer.

Published in:

Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-019-1174-2

By:

Özgöz, Asuman;
Mutlu İçduygu, Fadİme;
Yükseltürk, Ayşegül;
ŞamlI, Hale;
Hekİmler Öztürk, Kuyaş;
Başkan, Zuhal

Publication type:

Article

Endoplasmic Reticulum Proteins Impact Penetrance in a Pink1 -Mutant Drosophila Model.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 3, p. 979, doi. 10.3390/ijms26030979

By:

Vos, Melissa;
Ott, Fabian;
Gillo, Hawwi;
Cesare, Giuliana;
Misera, Sophie;
Busch, Hauke;
Klein, Christine

Publication type:

Article

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

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

Published in:

Journal of Neurology, 2011, v. 258, n. 8, p. 1413, doi. 10.1007/s00415-011-5947-7

By:

Berciano, José;
Baets, Jonathan;
Gallardo, Elena;
Zimoń, Magdalena;
García, Antonio;
López-Laso, Eduardo;
Combarros, Onofre;
Infante, Jon;
Timmerman, Vincent;
Jordanova, Albena;
De Jonghe, Peter

Publication type:

Article

Causal Models for Investigating Complex Genetic Disease: II. What Causal Models Can Tell Us about Penetrance for Additive, Heterogeneity, and Multiplicative Two-Locus Models.

Published in:

Human Heredity, 2011, v. 72, n. 1, p. 63, doi. 10.1159/000330780

By:

Madsen, Ann M.;
Ottman, Ruth;
Hodge, Susan E.

Publication type:

Article

Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease.

Published in:

Human Heredity, 2011, v. 71, n. 4, p. 281, doi. 10.1159/000330167

By:

Al-Chalabi, Ammar;
Lewis, Cathryn M.

Publication type:

Article

Genome-Wide Linkage Analysis to Identify Genetic Modifiers of ALK Mutation Penetrance in Familial Neuroblastoma.

Published in:

Human Heredity, 2011, v. 71, n. 2, p. 135, doi. 10.1159/000324843

By:

Devoto, Marcella;
Specchia, Claudia;
Laudenslager, Marci;
Longo, Luca;
Hakonarson, Hakon;
Maris, John;
Mossé, Yael

Publication type:

Article

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

Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 2, p. 173, doi. 10.1038/ejhg.2010.158

By:

Bonaïti, Bernard;
Bonadona, Valérie;
Perdry, Hervé;
Andrieu, Nadine;
Bonaïti-Pellié, Catherine

Publication type:

Article

TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 948, doi. 10.1038/ejhg.2010.36

By:

Bonaïti, Bernard;
Olsson, Malin;
Hellman, Urban;
Suhr, Ole;
Bonaïti-Pellié, Catherine;
Planté-Bordeneuve, Violaine

Publication type:

Article

The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 62, doi. 10.1038/ejhg.2009.112

By:

Hensen, Erik F.;
Jansen, Jeroen C.;
Siemers, Maaike D.;
Oosterwijk, Jan C.;
Vriends, Annette H. J. T.;
Corssmit, Eleonora P. M.;
Bayley, Jean-Pierre;
van der Mey, Andel G. L.;
Cornelisse, Cees J.;
Devilee, Peter

Publication type:

Article

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1079, doi. 10.1038/sj.ejhg.5201828

By:

Puomila, Anu;
Hämäläinen, Petra;
Kivioja, Sanna;
Savontaus, Marja-Liisa;
Koivumäki, Satu;
Huoponen, Kirsi;
Nikoskelainen, Eeva

Publication type:

Article

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 242, doi. 10.1038/sj.ejhg.5201733

By:

Basel-Vanagaite, Lina;
Pelet, Anna;
Steiner, Zvi;
Munnich, Arnold;
Rozenbach, Yoram;
Shohat, Mordechai;
Lyonnet, Stanislas

Publication type:

Article

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