Uniparental Disomy Of Chromosome 2
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Last Posted: Apr 19, 2024
- Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases.
Yuji Kibe, et al. Acta neuropathologica communications 2024 0 (1) 57 - Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report.
Petruta Gurban, et al. Frontiers in oncology 2023 0 1266996 - The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Eggermann Thomas, et al. Molecular genetics & genomic medicine 2017 0 (6) 668-677 - [Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6].
Sun Haiyan, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 0 (3) 371-375 - Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Inoue Takanobu, et al. Clinical epigenetics 2020 0 (1) 86 - Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory.
Lin Yi-Hui, et al. Acta obstetricia et gynecologica Scandinavica 2020 0 (6) 775-782 - Germline Variants in Phosphodiesterase Genes and Genetic Predisposition to Pediatric Adrenocortical Tumors.
Pinto Emilia Modolo, et al. Cancers 2020 0 (2) - [Beckwith-Wiedemann over-growth syndrom].
Leunbach Tina, et al. Ugeskrift for laeger 2021 0 (24) - One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer Robert, et al. Orphanet journal of rare diseases 2021 0 (1) 42 - Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis.
Gao Xiaochong, et al. Spine deformity 2014 9 (5) 324-332
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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
- Page last updated:May 03, 2024
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