Works matching Penetrance

Results: 5000

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

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

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

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

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

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

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

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

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

A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report.

Published in:

BMC Oral Health, 2019, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12903-019-0944-9

By:

Grippaudo, Cristina;
Cafiero, Concetta;
D'Apolito, Isabella;
Re, Agnese;
Genuardi, Maurizio;
Chiurazzi, Pietro;
Frazier-Bowers, Sylvia A.

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

Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia.

Published in:

Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01234-2

By:

Natarajan, Karthick;
Eisfeldt, Jesper;
Hammond, Maria;
Laffita-Mesa, José Miguel;
Patra, Kalicharan;
Khoshnood, Behzad;
Öijerstedt, Linn;
Graff, Caroline

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

Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin‐melanocortin pathway: A systematic review.

Published in:

Obesity Reviews, 2024, v. 25, n. 8, p. 1, doi. 10.1111/obr.13754

By:

Dosda, Sonia;
Renard, Emeline;
Meyre, David

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

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

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

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

Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 128, doi. 10.1111/cge.12591

By:

Rijken, J.A.;
Niemeijer, N.D.;
Corssmit, E.P.M.;
Jonker, M.A.;
Leemans, C.R.;
Menko, F.H.;
Hensen, E.F.

Publication type:

Article

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 362, doi. 10.1111/cge.12395

By:

Longoni, M.;
Russell, M.K.;
High, F.A.;
Darvishi, K.;
Maalouf, F.I.;
Kashani, A.;
Tracy, A.A.;
Coletti, C.M.;
Loscertales, M.;
Lage, K.;
Ackerman, K.G.;
Woods, S.A.;
Ward ‐ Melver, C.;
Andrews, D.;
Lee, C.;
Pober, B.R.;
Donahoe, P.K.

Publication type:

Article

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 78, doi. 10.1111/j.1399-0004.2012.01853.x

By:

Yang, T;
Li, X;
Huang, Q;
Li, L;
Chai, Y;
Sun, L;
Wang, X;
Zhu, Y;
Wang, Z;
Huang, Z;
Li, Y;
Wu, H

Publication type:

Article

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 532, doi. 10.1111/j.1399-0004.2011.01716.x

By:

Carvalho, CMB;
Bartnik, M;
Pehlivan, D;
Fang, P;
Shen, J;
Lupski, JR

Publication type:

Article

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 381, doi. 10.1111/j.1399-0004.2010.01388.x

By:

Sequeiros, J;
Ramos, EM;
Cerqueira, J;
Costa, MC;
Sousa, A;
Pinto-Basto, J;
Alonso, I

Publication type:

Article

Penetrance and clinical consequences of a gross SDHB deletion in a large family.

Published in:

Clinical Genetics, 2009, v. 75, n. 4, p. 354, doi. 10.1111/j.1399-0004.2009.01157.x

By:

Solis, D. C.;
Burnichon, N.;
Timmers, H. J. L. M.;
Raygada, M. J.;
Kozupa, A.;
Merino, M. J.;
Makey, D.;
Adams, K. T.;
Venisse, A.;
Gimenez-Roqueplo, A.-P.;
Pacak, K.

Publication type:

Article

Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms.

Published in:

Clinical Genetics, 2007, v. 71, n. 1, p. 46, doi. 10.1111/j.1399-0004.2006.00727.x

By:

Gagné, G.;
Reinharz, D.;
Laflamme, N.;
Adams, P. C.;
Rousseau, F.

Publication type:

Article

Reduced penetrance in human inherited disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2014, v. 15, n. 2, p. 103, doi. 10.1016/j.ejmhg.2014.01.003

By:

Shawky, Rabah M.

Publication type:

Article

AGE DEPENDENT PENETRANCE OF THREE DIFFERENT SUPEROXIDE DISMUTASE 1 (SOD 1) MUTATIONS.

Published in:

International Journal of Neuroscience, 2005, v. 115, n. 8, p. 1119, doi. 10.1080/00207450590914392

By:

AGGARWAL, ARUN;
NICHOLSON, GARTH

Publication type:

Article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

Published in:

2014

By:

Giordano, Carla;
Iommarini, Luisa;
Giordano, Luca;
Maresca, Alessandra;
Pisano, Annalinda;
Valentino, Maria Lucia;
Caporali, Leonardo;
Liguori, Rocco;
Deceglie, Stefania;
Roberti, Marina;
Fanelli, Francesca;
Fracasso, Flavio;
Ross-Cisneros, Fred N;
D'Adamo, Pio;
Hudson, Gavin;
Pyle, Angela;
Yu-Wai-Man, Patrick;
Chinnery, Patrick F;
Zeviani, Massimo;
Salomao, Solange R

Publication type:

journal article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 335, doi. 10.1093/brain/awt343

By:

Giordano, Carla;
Iommarini, Luisa;
Giordano, Luca;
Maresca, Alessandra;
Pisano, Annalinda;
Valentino, Maria Lucia;
Caporali, Leonardo;
Liguori, Rocco;
Deceglie, Stefania;
Roberti, Marina;
Fanelli, Francesca;
Fracasso, Flavio;
Ross-Cisneros, Fred N.;
D’Adamo, Pio;
Hudson, Gavin;
Pyle, Angela;
Yu-Wai-Man, Patrick;
Chinnery, Patrick F.;
Zeviani, Massimo;
Salomao, Solange R.

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

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

Published in:

Genetics, 2023, v. 224, n. 4, p. 1, doi. 10.1093/genetics/iyad115

By:

Einson, Jonah;
Glinos, Dafni;
Boerwinkle, Eric;
Castaldi, Peter;
Darbar, Dawood;
Andrade, Mariza de;
Ellinor, Patrick;
Fornage, Myriam;
Gabriel, Stacey;
Germer, Soren;
Gibbs, Richard;
Hersh, Craig P.;
Johnsen, Jill;
Kaplan, Robert;
Konkle, Barbara A.;
Kooperberg, Charles;
Nassir, Rami;
Loos, Ruth J. F.;
Meyers, Deborah A.;
Mitchell, Braxton D.

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

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

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.

Published in:

European Heart Journal, 2018, v. 39, n. 10, p. 853, doi. 10.1093/eurheartj/ehx596

By:

Hasselberg, Nina Eide;
Haland, Trine Fink;
Saberniak, Jørg;
Brekke, Pål Haugar;
Berge, Knut Erik;
Leren, Trond Paul;
Edvardsen, Thor;
Haugaa, Kristina Hermann

Publication type:

Article

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0218-1

By:

Salort-Campana, Emmanuelle;
Nguyen, Karine;
Bernard, Rafaelle;
Jouve, Elisabeth;
Solé, Guilhem;
Nadaj-Pakleza, Aleksandra;
Niederhauser, Julien;
Charles, Estelle;
Ollagnon, Elisabeth;
Bouhour, Françoise;
Sacconi, Sabrina;
Echaniz-Laguna, Andoni;
Desnuelle, Claude;
Tranchant, Christine;
Vial, Christophe;
Magdinier, Frederique;
Bartoli, Marc;
Arne-Bes, Marie-Christine;
Ferrer, Xavier;
Kuntzer, Thierry

Publication type:

Article

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 22, doi. 10.1186/s13023-014-0218-1

By:

Salort-Campana, Emmanuelle;
Nguyen, Karine;
Bernard, Rafaelle;
Jouve, Elisabeth;
Solé, Guilhem;
Nadaj-Pakleza, Aleksandra;
Niederhauser, Julien;
Charles, Estelle;
Ollagnon, Elisabeth;
Bouhour, Françoise;
Sacconi, Sabrina;
Echaniz-Laguna, Andoni;
Desnuelle, Claude;
Tranchant, Christine;
Vial, Christophe;
Magdinier, Frederique;
Bartoli, Marc;
Arne-Bes, Marie-Christine;
Ferrer, Xavier;
Kuntzer, Thierry

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

Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.

Published in:

Documenta Ophthalmologica, 2023, v. 146, n. 3, p. 267, doi. 10.1007/s10633-022-09916-5

By:

Soucy, Megan;
Kolesnikova, Masha;
Kim, Angela H.;
Tsang, Stephen H.

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

A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1902

By:

Bai, Rui‐Qi;
He, Wen‐Bin;
Peng, Qian;
Shen, Su‐Hui;
Yu, Qian‐Qian;
Du, Juan;
Tan, Yue‐Qiu;
Wang, Yue‐Hong;
Liu, Bin‐Jie

Publication type:

Article

Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.913

By:

Imbert‐Bouteille, Marion;
Gauthier‐Villars, Marion;
Leroux, Dominique;
Meunier, Isabelle;
Aerts, Isabelle;
Lumbroso‐Le Rouic, Livia;
Lejeune, Sophie;
Delnatte, Capucine;
Abadie, Caroline;
Pujol, Pascal;
Houdayer, Claude;
Corsini, Carole

Publication type:

Article

Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.476

By:

Gardner, R. J. McKinlay;
Crozier, Ian G.;
Binfield, Alex L.;
Love, Donald R.;
Lehnert, Klaus;
Gibson, Kate;
Lintott, Caroline J.;
Snell, Russell G.;
Jacobsen, Jessie C.;
Jones, Peter P.;
Waddell‐Smith, Kathryn E.;
Kennedy, Martin A.;
Skinner, Jonathan R.

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