Partial Deletion Of Y
What's New
Last Posted: Sep 07, 2023
- [Analysis of copy number variation in AZF region of Y chromosome in patients with spermatogenic failure].
Hui Gao, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 0 (9) 1068-1074 - Hidden protein-altering variants influence diverse human phenotypes.
Margaux L A Hujoel, et al. bioRxiv : the preprint server for biology 2023 0 - Analysis of the correlation between gene copy deletion in the AZFc region and male infertility in Japanese men.
Nakagawa Yusuke, et al. Reproductive biology 2023 0 (1) 100728 - Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.
Shojaei Azadeh, et al. Reports of biochemistry & molecular biology 2017 0 (1) 59-65 - Analysis of partial AZFc (gr/gr, b1/b3, and b2/b3) deletions in Iranian oligozoospermia candidates for intracytoplasmic sperm injection (ICSI).
Ataei Mitra, et al. Turkish journal of medical sciences 2018 0 (2) 251-256 - [Germinal mosaicism for partial deletion of the Dystrophin gene in a family affected with Duchenne muscular dystrophy].
Xiao Hai, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 0 (10) 1015-1018 - A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.
Charbel Issa Peter, et al. Investigative ophthalmology & visual science 2019 0 (10) 3388-3397 - Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience.
Pinho A, et al. Andrology 2019 0 (2) 307-314 - The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
Nagy Orsolya, et al. Molecular biology reports 2019 0 (5) 5595-5601 - [Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene].
Shen Xueping, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (4) 459-461
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: