نتائج البحث

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism

• Authors : Yang Cao; Michael J. Evenson; Meagan M. Corliss

Subjects: Disorders of somatic mosaicism; NGS; PI3K/AKT/mTOR

• Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100807- (2023)

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Profiling PIK3CA variants in disorders of somatic mosaicism

• Authors : Bahareh A. Mojarad; Patricia V. Hernandez; Michael J. Evenson

Subjects: NGS; PIK3CA; PIK3CA-related overgrowth spectrum

• Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100815- (2023)

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Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

• Authors : Wen Tian; Yingzhao Huang; Liying Sun

Subjects: Macrodactyly; Phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA); AKT1 serine/threonine kinase 1 (AKT1)

• Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

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Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

• Authors : Daniel D. Domogala; Tomasz Gambin; Roni Zemet

Subjects: Clinical diagnostic testing; Mosaicism carrier; Recurrence risk

• Source: Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)

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Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

• Authors : Hyun Jin Park; Chang Ho Shin; Won Joon Yoo

Subjects: PIK3CA; Somatic overgrowth; Megalencephaly

• Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

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Somatic mosaicism in the diseased brain

• Authors : Iourov, I. Y.; Vorsanova, S. G.; Kurinnaia, O. S.

Subjects: medicine; medical genetics; brain

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Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities—an analysis of CRISPR genome-edited mouse embryos

• Authors : Akihiro Yasue; Hitomi Kono; Munenori Habuta

Subjects: Medicine; Science

• Source: Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)

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Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

• Authors : Laetitia Monteil; Stéphanie Tomé; John Harting ...

Subjects: Adult; Male; musculoskeletal diseases

• Source: International Journal of Molecular Sciences, Vol 22, Iss 2616, p 2616 (2021)International Journal of Molecular SciencesInternational Journal of Molecular Sciences, MDPI, 2021, 22 (5),

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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingResearch in context

• Authors : Christina Zarouchlioti; Stephanie Efthymiou; Stefano Facchini

Subjects: Fuchs endothelial corneal dystrophy; Trinucleotide repeat expansion disease; Triplet repeat expansion-mediated disease

• Source: EBioMedicine, Vol 108, Iss , Pp 105328- (2024)

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Evaluating somatic mosaicism In Parkinson's disease

• Authors : Heng, Yue Jing;

Subjects: Medicine; Health and Life Sciences

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