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Genetic Mosaicism

• Authors : János Szabad, Author

Subjects: MosaicismSCIENCE / Life Sciences / Genetics & Genomics; SCIENCE / Life Sciences / Horticulture

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Case Report of Suspected Gonadal Mosaicism in FOXP1 -Related Neurodevelopmental Disorder.

• Authors : Zsigmond, Anna¹ (AUTHOR) ; Till, Ágnes¹ (AUTHOR) ; Bene, Judit¹ (AUTHOR)

Subjects: *MOSAICISM; *GENETIC variation; *NEURAL development

• Source: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5709. 9p.

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Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports.

• Authors : Tang, Hai Xuan¹ (AUTHOR); Lu, Y‐Thanh² (AUTHOR); Ha, Thi Minh Thi³ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-8. 8p.

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THRB Gene Mosaicism Confirmed by Next-Generation Sequencing in a Clinically Symptomatic Infant.

• Authors : Cheng, Jenny Yeuk Ki^1,2 (AUTHOR); Subramaniam, Shreenidhi Ranganatha^1,2 (AUTHOR); Leung, Hoi Shan¹ (AUTHOR)

• Source: JCEM Case Reports. May2024, Vol. 2 Issue 5, p1-5. 5p.

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Genomic Mosaicism of the Brain: Origin, Impact, and Utility.

• Authors : Graham, Jared; Breuss, Martin; Schlachetzki, Johannes

Subjects: Brain development; Brain homeostasis; Genomic mosaicism

• Source: Zhongguo shen jing ke xue za zhi = Chinese journal of neuroscience. 40(6)

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Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.

• Authors : Chung, Changuk; Yang, Xiaoxu; Hevner, Robert

Subjects: Aged; Female; Humans

• Source: Nature: New biology. 629(8011)

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Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism.

• Authors : De Mazancourt, Philippe^1,2,3 (AUTHOR) ; Mazoyer, Elisabeth⁴ (AUTHOR) ; Hormi, Myriam⁴ (AUTHOR)

Subjects: *MISSENSE mutation; *MOSAICISM; *DATA analysis

• Source: International Journal of Molecular Sciences. Dec2023, Vol. 24 Issue 23, p16551. 6p.

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Gonadoblastoma in a patient with 45,X/46XY mosaicism.

• Authors : Bravo-Taxa, Mercedes^1,2 ; Taxa-Rojas, Luis^1,2,3

• Source: Ecancermedicalscience. 2023, Vol. 17 Issue 1588-1650, p1-7. 7p.

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Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.

• Authors : Bai Y; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.; Sun Y

Subjects: Fibrillin-1*/Fibrillin-1*/Fibrillin-1*/genetics ; Marfan Syndrome*/Marfan Syndrome*/Marfan Syndrome*/genetics ; Marfan Syndrome*/Marfan Syndrome*/Marfan Syndrome*/pathology

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 21; Vol. 19 (1), pp. 209. Date of Electronic Publication: 2024 May 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Prenatal diagnosis of Sex determining region Y-box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report.

• Authors : Nikuei, Pooneh¹; Khashavy, Zahra²; Fard, Mohammad Ali Farazi³

• Source: International Journal of Reproductive Biomedicine. 2023, Vol. 21 Issue 8, p667-672. 6p.

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