نتائج البحث

Y chromosome AZFc microdeletion may have negative effect on embryo euploidy: a retrospective cohort study.

• Authors : Jiang, Wei¹ (AUTHOR); Xie, Qijun¹ (AUTHOR); Li, Xin¹ (AUTHOR)

• Source: BMC Medical Genomics. 12/11/2023, Vol. 16 Issue 1, p1-8. 8p.

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Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review.

• Authors : Xu, Hui-Hui^1,2 (AUTHOR) ; Zhang, Yang² (AUTHOR); He, Zhe-Hang² (AUTHOR)

• Source: BMC Medical Genomics. 5/22/2023, Vol. 16 Issue 1, p1-13. 13p.

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Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

• Authors : Chen L; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Luo X

Subjects: Dystrophin*/Dystrophin*/Dystrophin*/genetics ; Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/genetics ; Chromosome Inversion*/Chromosome Inversion*/Chromosome Inversion*/genetics

• Source: BMC medical genomics [BMC Med Genomics] 2024 Sep 09; Vol. 17 (1), pp. 227. Date of Electronic Publication: 2024 Sep 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family

• Authors : Ming-Xia Sun; Miao Jing; Ying Hua

Subjects: DMD; Manifesting carrier; Novel mutation

• Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

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Y chromosome AZFc microdeletion may have negative effect on embryo euploidy: a retrospective cohort study

• Authors : Wei Jiang; Qijun Xie; Xin Li

Subjects: PGT-A; Y chromosome AZFc microdeletion; Embryo aneuploidy

• Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)

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Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.

• Authors : Dai J; Department of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China.; Zeng J

Subjects: Chromosome Disorders*/Chromosome Disorders*/Chromosome Disorders*/genetics ; Kallmann Syndrome*/Kallmann Syndrome*/Kallmann Syndrome*/genetics ; Spherocytosis, Hereditary*/Spherocytosis, Hereditary*/Spherocytosis, Hereditary*/genetics

• Source: BMC medical genomics [BMC Med Genomics] 2022 Jun 06; Vol. 15 (1), pp. 126. Date of Electronic Publication: 2022 Jun 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis

• Authors : Aline Nardelli; Larissa Valéria Laskoski; Andressa Fernanda Luiz

Subjects: Chromosome abnormalities; Genetic diagnosis; Mosaicism

• Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)

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First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.

• Authors : Wang, Yao¹ (AUTHOR); Yu, Dong² (AUTHOR); Wei, Wei³ (AUTHOR)

• Source: BMC Medical Genomics. 6/18/2022, Vol. 15 Issue 1, p1-7. 7p.

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Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.

• Authors : Lin, Qing¹ (AUTHOR) ; Liang, Chunya¹ (AUTHOR); Du, Bole² (AUTHOR)

• Source: BMC Medical Genomics. 2/21/2024, Vol. 17 Issue 1, p1-11. 11p.

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A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.

• Authors : Sun, Ming-Xia¹ (AUTHOR); Jing, Miao¹ (AUTHOR); Hua, Ying¹ (AUTHOR)

• Source: BMC Medical Genomics. 2/1/2024, Vol. 17 Issue 1, p1-7. 7p.

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