Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Aromatase Deficiency[original query] |
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No evidence of mutations in the P450 aromatase gene in patients with polycystic ovary syndrome. Human reproduction (Oxford, England) 2005 Apr 20 (4): 965-9. Söderlund D, Canto P, Carranza-Lira S, Méndez J |
CYP17 polymorphism and tamoxifen-induced hepatic steatosis. Hepatology research : the official journal of the Japan Society of Hepatology 2005 Oct 33 (2): 178-80. Ohnishi Takenao, Ogawa Yasuhiro, Saibara Toshiji, Nishioka Akihito, Kariya Shinji, Fukumoto Mitsutaka, Onishi Saburo, Yoshida Sho |
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. The Journal of clinical endocrinology and metabolism 2009 May 94 (5): 1723-31. Fukami Maki, Nishimura Gen, Homma Keiko, Nagai Toshiro, Hanaki Keiichi, Uematsu Ayumi, Ishii Tomohiro, Numakura Chikahiko, Sawada Hirotake, Nakacho Mariko, Kowase Takanori, Motomura Katsuaki, Haruna Hidenori, Nakamura Mihoko, Ohishi Akira, Adachi Masanori, Tajima Toshihiro, Hasegawa Yukihiro, Hasegawa Tomonobu, Horikawa Reiko, Fujieda Kenji, Ogata Tsuto |
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. European journal of medical genetics 2021 1 64 (3): 104154. Ata Aysun, Özen Samim, Onay Hüseyin, Uzun Selin, Gök?en Damla, Özk?nay Ferda, Özbaran Nazl? Burcu, Ulman ?brahim, Darcan ?ükr |
Association of the CYP19A1 rs700518 Polymorphism with Selected Markers of Bone Metabolism in Women with Hyperandrogenism. Journal of clinical medicine 2022 6 11 (12): . Uzar Izabela, Bogacz Anna, Sowi?ska-Przepiera El?bieta, Pi?tek Krzysztof, Przerwa Filip, Wolek Marlena, Czerny Bogus? |
46,XX aromatase deficiency: a single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters. Annales d'endocrinologie 2023 6 . Chethan Yamichannaiah, Saba Samad Memon, Vijaya Sarathi, Anurag Ranjan Lila, Rohit Barnabas, Darpan Raghav, Vishwambhar V Bhandare, Sneha Arya, Hemangini Thakkar, Virendra Ashokrao Patil, Manjiri Karlekar, Ambarish Kunwar, Tushar Bandg |
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