Human Genome Epidemiology Literature Finder
|
Records 1 - 13 (of 13 Records) |
| Query Trace: Counseling and AR[original query] |
|---|
| Androgen receptor polymorphisms and mutations in male infertility. Journal of endocrinological investigation 2000 Oct 23 (9): 573-7. Yong E L, Lim L S, Wang Q, Mifsud A, Lim J, Ong Y C, Sim K |
| Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique. Genetic testing and molecular biomarkers 2011 Dec 15 (12): 849-53. da Silva-Costa Sueli M, Martins Fábio Tadeu Arrojo, Pereira Tânia, Pomilio Mariza C A, Marques-de-Faria Antonia Paula, Sartorato Edi Lúc |
| Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012 Apr 119 (4): 819-26. Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew |
| Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European journal of human genetics : EJHG 2015 Aug . Santos Diana, Coelho Teresa, Alves-Ferreira Miguel, Sequeiros Jorge, Mendonça Denisa, Alonso Isabel, Lemos Carolina, Sousa Al |
| Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2015 9 (3): 136-43. Serra Alexandre, Denzer Friederike, Hiort Olaf, Barth Thomas F, Henne-Bruns Doris, Barbi Gotthold, Rettenberger Günther, Wabitsch Martin, Just Walter, Leriche Clothil |
| Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. Journal of pediatric endocrinology & metabolism : JPEM 2017 12 31 (2): 223-228. Batista Rafael Loch, Rodrigues Andresa De Santi, Machado Aline Zamboni, Nishi Mirian Yumie, Cunha Flávia Siqueira, Silva Rosana Barbosa, Costa Elaine M F, Mendonca Berenice B, Domenice Sorah |
| Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population. European journal of human genetics : EJHG 2018 Apr . Hanany Mor, Allon Gilad, Kimchi Adva, Blumenfeld Anat, Newman Hadas, Pras Eran, Wormser Ohad, S Birk Ohad, Gradstein Libe, Banin Eyal, Ben-Yosef Tamar, Sharon Dr |
| High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2021 Mar . Frohne Alexandra, Koenighofer Martin, Liu David Tianxiang, Laccone Franco, Neesen Juergen, Gstoettner Wolfgang, Schoefer Christian, Lucas Trevor, Frei Klemens, Parzefall Thom |
| How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. European urology 2021 1 79 (4): 507-515. Ea Vuthy, Bergougnoux Anne, Philibert Pascal, Servant-Fauconnet Nadège, Faure Alice, Breaud Jean, Gaspari Laura, Sultan Charles, Paris Françoise, Kalfa Nicol |
| The relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyotyping abnormalities with very severe oligozoospermia in Iranian men. Genes & genomics 2022 Aug . Jafari Leyla, Safinejad Kyumars, Nasiri Mahboobeh, Heidari Mansour, Houshmand Masso |
| An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy. Translational vision science & technology 2023 2 12 (2): 27. Hanany Mor, Yang Richard Rui, Lam Chun Man, Beryozkin Avigail, Sundaresan Yogapriya, Sharon Dr |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101246. Jacquelyn Powers, Heather Wachtel, Erica Trujillo, Heena Desai, Ryan Hausler, Laura Conway, Bradley Wubbenhorst, , , Susan M Domchek, Katherine L Nathanson, Kara N Maxwe |
- Page last reviewed:Feb 1, 2024
- Content source: