Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Hyperplasia and POR[original query] |
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Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase. The Journal of steroid biochemistry and molecular biology 2016 Mar . Flück Christa E, Pandey Amit |
Contralateral breast cancer and tumor recurrence in BRCA1/2 carriers and non-carriers at a high risk of hereditary breast cancer after bilateral mastectomy. Cirugia espanola 2020 Jun . Allué Cabañuz Marta, Domingo Bretón María, Chóliz Ezquerro Jorge, Arribas Del Amo María Dolores, Güemes Sánchez Antonio Tom |
POR polymorphisms are associated with 21 hydroxylase deficiency. Journal of endocrinological investigation 2021 Mar . Pecori Giraldi F, Einaudi S, Sesta A, Verna F, Messina M, Manieri C, Menegatti E, Ghizzoni |
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India. European journal of medical genetics 2021 10 64 (12): 104369. Ravichandran Lavanya, Korula Sophy, Asha H S, Varghese Deny, Parthiban R , Johnson Jabasteen, Ishwarya Janani, Shetty Sahana, Cherian Kripa Elizabeth, Jebasingh Felix, Kapoor Nitin, Pachat Divya, Mathai Sarah, Simon Anna, Rajaratnam Simon, Paul Thomas V, Thomas Nihal, Chapla Aar |
Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature. Journal of endocrinological investigation 2022 Jul . Gusmano C, Cannarella R, Crafa A, Barbagallo F, La Vignera S, Condorelli R A, Calogero A |
Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia. MethodsX 2022 6 9 101748. Ravichandran Lavanya, Varghese Deny, R Parthiban, S Asha H, Korula Sophy, Thomas Nihal, Chapla Aar |
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