Associated Papers
Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non-coding sequence variant of PPP1R12A.
Diao Y et al.
Molecular Genetics & Genomic Medicine, 2023
Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.
Gusmano C et al.
Journal of Endocrinological Investigation, 2023
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Francese-Santos AP et al.
International Journal of Molecular Sciences, 2022
Heterozygous POR gene mutations in a patient with congenital adrenal hyperplasia.
Gusmano C et al.
Endocrine, 2022
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants
Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort.
Tomková M et al.
Pharmacogenomics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659
Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations.
Tomková M et al.
Pharmacogenomics, 2012
P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity.
Hart SN et al.
Expert Opinion on Drug Metabolism & Toxicology, 2008
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