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Subject : genetic mutation

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Academic Journal

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

Authors : Emperador, Sonia^1,2,3 (AUTHOR); Habbane, Mouna^1,4 (AUTHOR); López-Gallardo, Ester^1,2,3 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 4/6/2024, Vol. 19 Issue 1, p1-10. 10p.

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Academic Journal

A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.

Authors : Cannon-Albright, Lisa A.^1,2,3 (AUTHOR) ; Stevens, Jeff¹ (AUTHOR) ; Teerlink, Craig C.^1,2 (AUTHOR)

Source: Cancers. Dec2023, Vol. 15 Issue 24, p5851. 14p.

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Academic Journal

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.

Authors : Jiang, Keke¹ (AUTHOR); Wang, Shuying² (AUTHOR); Sun, Huixin³ (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-9. 9p.

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Academic Journal

A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.

Authors : Jiang, Lejian¹; Wang, Chenhuan^1,2,3; Ye, Zhaoming^2,3,4

Source: Journal of Orthopaedic Surgery & Research. 1/3/2024, Vol. 19 Issue 1, p1-7. 7p.

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Academic Journal

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.

Authors : Sun, Yueqian¹ (AUTHOR); Zhou, Ziqi¹ (AUTHOR); Wang, Qun^1,2,3,4 (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Oct2023, Vol. 11 Issue 10, p1-10. 10p.

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Academic Journal

High-Risk Pedigree Study Identifies LRBA (rs62346982) as a Likely Predisposition Variant for Prostate Cancer.

Authors : Cannon-Albright, Lisa A.^1,2,3 (AUTHOR) ; Stevens, Jeff¹ (AUTHOR); Facelli, Julio C.⁴ (AUTHOR)

Source: Cancers. Apr2023, Vol. 15 Issue 7, p2085. 14p.

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Academic Journal

Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS.

Authors : Vogelaar, Ingrid P.¹ (AUTHOR); Greer, Stephanie¹ (AUTHOR); Wang, Fan^1,2 (AUTHOR)

Source: Cancers. Jan2023, Vol. 15 Issue 1, p228. 27p.

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Academic Journal

Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population.

Authors : Connell, J. R.¹ (AUTHOR); Benton, M. C.^1,2 (AUTHOR); Lea, R. A.¹ (AUTHOR)

Source: Scientific Reports. 11/13/2022, Vol. 12 Issue 1, p1-11. 11p.

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Academic Journal

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.

Authors : Bitarafan, Fatemeh^1,2; Khodaeian, Mehrnoosh¹; Garrousi, Fatemeh¹

Source: BMC Endocrine Disorders. 7/20/2023, Vol. 23 Issue 1, p1-10. 10p.

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Academic Journal

A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.

Authors : Amin, Mina¹; Khaledi, Elaheh Mahmoodi¹ ; Narrei, Sina²

Source: Iranian Journal of Medical Sciences. Jul2023, Vol. 48 Issue 4, p420-424. 5p.

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فلترة النتائج

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.

A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.

High-Risk Pedigree Study Identifies LRBA (rs62346982) as a Likely Predisposition Variant for Prostate Cancer.

Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS.

Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population.

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.

A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.

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