Cystinuria
What's New
Last Posted: May 12, 2023
- Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis.
Zhi Wang, et al. Frontiers in genetics 2023 0 1128884 - Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs.
Fitzwilliams Therese, et al. Animal genetics 2023 0 - Genetic and clinical analysis of Chinese pediatric patients with cystinuria.
Zhan Ruichao, et al. Urolithiasis 2022 0 (1) 20 - In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
Mahdavi Manijeh, et al. Molecular biology reports 2018 0 (5) 1165-1173 - [Inherited kidney stones: A nephrology center experience].
Kaaroud H, et al. Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie 2019 0 (16) 962-973 - The genetic landscape of the human solute carrier (SLC) transporter superfamily.
Schaller Lena, et al. Human genetics 2019 0 (11-12) 1359-1377 - Non-contrast computed tomography characteristics in a large cohort of cystinuria patients.
Warren Hannah, et al. World journal of urology 2020 0 (7) 2753-2757 - Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.
Li Chuangye, et al. Frontiers in genetics 2020 0 74 - Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.
Halalsheh Omar M, et al. Annals of medicine and surgery (2012) 2021 0 102182 - Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
Schönauer Ria, et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 0 (3) 279-288
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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 the CDC Office of Public Health Genomics 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, 2023
- Page last updated:May 30, 2023
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