نتائج البحث

Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway.

• Authors : Sucharov, Juliana¹ (AUTHOR); Ray, Kuval¹ (AUTHOR); Brooks, Elliott P.¹ (AUTHOR)

• Source: PLoS Genetics. 12/2/2019, Vol. 15 Issue 12, p1-32. 32p.

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Reduced penetrance in human inherited disease.

• Authors : Shawky, Rabah M.¹

Subjects: *GENETIC disorders; *GENETIC mutation; *GENETIC counseling

• Source: Egyptian Journal of Medical Human Genetics. 2014, Vol. 15 Issue 2, p103-111. 9p.

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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.

• Authors : Eloy, Philippine¹; Dehainault, Catherine¹; Sefta, Meriem²

• Source: PLoS Genetics. 2/29/2016, Vol. 12 Issue 2, p1-14. 14p.

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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

• Authors : Ehret, Julia K.¹; Engels, Hartmut¹ ; Cremer, Kirsten¹

• Source: Molecular Cytogenetics (17558166). 9/29/2015, Vol. 8 Issue 1, p1-14. 14p.

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

• Authors : Alekseeva, Ekaterina A.^1,2 (AUTHOR) ; Babenko, Olga V.¹ (AUTHOR) ; Kozlova, Valentina M.³ (AUTHOR)

• Source: Cancers. Oct2021, Vol. 13 Issue 20, p5068. 1p.

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A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation.

• Authors : BARTOS, DANIEL C.¹; ANDERSON, JEFFREY B.²; BASTIAENEN, RACHEL³

• Source: Journal of Cardiovascular Electrophysiology. May2013, Vol. 24 Issue 5, p562-569. 8p. 1 Diagram, 1 Chart, 3 Graphs.

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CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance.

• Authors : Venturini, Giulia¹; Rose, Anna M.²; Shah, Amna Z.²

• Source: PLoS Genetics. Nov2012, Vol. 8 Issue 11, Special section p1-8. 8p. 1 Diagram, 3 Graphs.

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Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome.

• Authors : Bhatia, Divya¹; Khandelwal, Priyanka¹; Sinha, Aditi¹

• Source: Pediatric Nephrology. Dec2015, Vol. 30 Issue 12, p2215-2220. 6p. 2 Charts, 1 Graph.

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Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

• Authors : Niittymäki, Iina¹; Tuupanen, Sari¹; Yilong Li¹

• Source: BMC Medical Genetics. 2011, Vol. 12 Issue 1, p23-28. 6p.

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Variability in gene expression underlies incomplete penetrance.

• Authors : Raj, Arjun¹; Rifkin, Scott A.²; Andersen, Erik^3,4

• Source: Nature. 2/18/2010, Vol. 463 Issue 7283, p913-918. 6p. 1 Diagram, 3 Graphs.

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