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Penetrance Estimation in Family-based Studies with the penetrance R package

• Authors : Kubista, Nicolas; Braun, Danielle; Parmigiani, Giovanni

Subjects: Statistics - Computation; Statistics - Applications

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

• Authors : Hitti-Malin, Rebekkah; Panneman, Daan; Corradi, Zelia

Subjects: inherited; macula; maculopathies

• Source: Biomolecules. 14(3)

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Segregation GWAS to linearize a non-additive locus with incomplete penetrance: an example of horn status in sheep.

• Authors : Duijvesteijn N; Cooperative Research Centre for Sheep Industry Innovation, Armidale, NSW, 2351, Australia.; School of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia.

Subjects: Genome-Wide Association Study*/Genome-Wide Association Study*/Genome-Wide Association Study*/methods ; Genome-Wide Association Study*/Genome-Wide Association Study*/Genome-Wide Association Study*/veterinary ; Penetrance*

• Source: Genetics, selection, evolution : GSE [Genet Sel Evol] 2024 Sep 03; Vol. 56 (1), pp. 61. Date of Electronic Publication: 2024 Sep 03.Publisher: BioMed Central Country of Publication: France NLM ID: 9114088 Publication Model: Electronic Cited Medium: Internet ISSN: 1297-9686

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Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk

• Authors : Bryant, P; Bernstedt, SW; Thutkawkorapin, J

Subjects: Medicin och hälsovetenskap

• Source: European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP). 32(2):113-118

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Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

• Authors : Szuman M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań, Poland.; Kaczmarek-Ryś M

Subjects: Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics ; Genetic Predisposition to Disease* ; Penetrance*

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 30; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 30.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome

• Authors : Winarni, Tri Indah; Hwang, Ye Hyun; Rivera, Susan M

Subjects: Biological Sciences; Genetics; Clinical Research

• Source: International Journal of Molecular Sciences. 25(15)

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Metronidazole SC Penetrance With Moisturizers

• Authors : National Rosacea Society

• Source: Evaluation of the Effect of Moisturizers on the Absorption of Metronidazole Into the Stratum Corneum of Rosacea Patients With Tape Stripping and Liquid Chromatography-mass SpectrometryThiboutot

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Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk

• Authors : Ruberu, Thanthirige Lakshika M.; Braun, Danielle; Parmigiani, Giovanni

Subjects: Statistics - Methodology

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Changes in Skin Cancer-Related Behaviors, Distress, and Beliefs in Response to Receipt of Low- to Moderate-Penetrance Genetic Test Results for Skin Cancer Risk.

• Authors : Khadka, Monica¹ (AUTHOR) ; Lacson, John Charles A.² (AUTHOR); Sutton, Steven K.³ (AUTHOR)

• Source: Cancers. Dec2024, Vol. 16 Issue 23, p4027. 13p.

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Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions

• Authors : Roos, Anna-Karin; Stenvall, Erica; Kockum, Emmy Skelton

Subjects: C9ORF72HRE; Amyotrophic lateral sclerosis; huntingtin inclusions

• Source: Human Molecular Genetics. 33(22):1966-1974

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