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Subject : genetic disorders

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Academic Journal

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

Authors : Hitti-Malin, Rebekkah J.¹ (AUTHOR) ; Panneman, Daan M.¹ (AUTHOR); Corradi, Zelia¹ (AUTHOR)

Source: Biomolecules (2218-273X). Mar2024, Vol. 14 Issue 3, p367. 20p.

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Academic Journal

Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease.

Authors : Qiao, Min¹ (AUTHOR); Lee, Annie J.¹ (AUTHOR); Reyes‐Dumeyer, Dolly¹ (AUTHOR)

Source: Annals of Clinical & Translational Neurology. May2023, Vol. 10 Issue 5, p744-756. 13p.

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Academic Journal

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

Authors : Bai, Rui‐Qi¹ (AUTHOR); He, Wen‐Bin^2,3,4,5 (AUTHOR); Peng, Qian¹ (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Apr2022, Vol. 10 Issue 4, p1-7. 7p.

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Academic Journal

A Bayesian method to estimate variant-induced disease penetrance.

Authors : Kroncke, Brett M.^1,2,3 (AUTHOR) ; Smith, Derek K.⁴ (AUTHOR); Zuo, Yi⁴ (AUTHOR)

Source: PLoS Genetics. 6/22/2020, Vol. 16 Issue 6, p1-16. 16p.

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Academic Journal

CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders.

Authors : Addepalli, Aditya¹ (AUTHOR); Kalyani, Sakhare¹ (AUTHOR); Singh, Minali¹ (AUTHOR)

Source: PLoS ONE. 1/29/2020, Vol. 15 Issue 1, p1-10. 10p.

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Academic Journal

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

Authors : Brambila-Tapia, Aniel Jessica Leticia¹ (AUTHOR) ; García-Ortiz, José Elías² (AUTHOR); Brouillard, Pascal³ (AUTHOR)

Source: Hematology. Sep2017, Vol. 22 Issue 8, p467-471. 5p.

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Academic Journal

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications.

Authors : Queen, Rachel A.¹; Steyn, Jannetta S.¹; Lord, Phillip²

Source: PLoS ONE. 11/21/2017, Vol. 12 Issue 11, p1-22. 22p.

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Academic Journal

Reduced penetrance in human inherited disease.

Authors : Shawky, Rabah M.¹

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

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Academic Journal

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Authors : El Khattabi, Laïla¹; Guimiot, Fabien²; Pipiras, Eva³

Source: European Journal of Human Genetics. Aug2015, Vol. 23 Issue 8, p1010-1018. 9p.

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Academic Journal

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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نتائج البحث

فلترة النتائج

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

Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease.

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

A Bayesian method to estimate variant-induced disease penetrance.

CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders.

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications.

Reduced penetrance in human inherited disease.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

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

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