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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 15 (of 15 Records)

Query Trace: Gonadal Dysgenesis and NR5A1[original query]
Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
PloS one 2012 7 (3): e32505.
Kalfa Nicolas, Fukami Maki, Philibert Pascal, Audran Francoise, Pienkowski Catherine, Weill Jacques, Pinto Graziella, Manouvrier Sylvie, Polak Michel, Ogata Totsumo, Sultan Charl
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
American journal of medical genetics. Part A 2013 Oct 161A (10): 2487-94.
Harrison Steven M, Campbell Ian M, Keays Melise, Granberg Candace F, Villanueva Carlos, Tannin Grace, Zinn Andrew R, Castrillon Diego H, Shaw Chad A, Stankiewicz Pawel, Baker Linda
Mutational screening of the NR5A1 in azoospermia.
Andrologia 2015 May 47 (4): 395-401.
Zare-Abdollahi D, Safari S, Mirfakhraie R, Movafagh A, Bastami M, Azimzadeh P, Salsabili N, Ebrahimizadeh W, Salami S, Omrani M
Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.
Andrologia 2015 Aug .
Hussain S, Amar A, Najeeb M N, Khaliq
Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations.
Fertility and sterility 2015 Jul 104 (1): 163-9.e1.
Ferlin Alberto, Rocca Maria Santa, Vinanzi Cinzia, Ghezzi Marco, Di Nisio Andrea, Foresta Car
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2016 May .
Mazen Inas, Abdel-Hamid Mohamed, Mekkawy Mona, Bignon-Topalovic Joëlle, Boudjenah Radia, El Gammal Mona, Essawi Mona, Bashamboo Anu, McElreavey K
NR5A1 mutations are not associated with male infertility in Indian men.
Andrologia 2017 12 50 (3): .
Sudhakar D V S, Nizamuddin S, Manisha G, Devi J R, Gupta N J, Chakravarthy B N, Deenadayal M, Singh L, Thangaraj
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2017 12 11 (5-6): 248-253.
Rehkämper Jan, Tewes Ann-Christin, Horvath Judit, Scherer Gerd, Wieacker Peter, Ledig Susan
Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.
Reports of biochemistry & molecular biology 2017 11 6 (1): 59-65.
Shojaei Azadeh, Ebrahimzadeh-Vesal Reza, Ahani Ali, Razzaghy-Azar Maryam, Khakpour Golnaz, Ghazi Farideh, Tavakkoly-Bazzaz Jav
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
Molecular biology reports 2019 7 46 (5): 5595-5601.
Nagy Orsolya, Kárteszi Judit, Hartwig Marianna, Bertalan Rita, Jávorszky Eszter, Erhardt Éva, Patócs Attila, Tornóczky Tamás, Balogh István, Ujfalusi Ani
[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
Problemy endokrinologii 2020 12 66 (3): 62-69.
Kalinchenko Natalia Yu, Kolodkina Anna A, Raygorodskaya Nadezda Y, Tiulpakov Anatoly
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.
Frontiers in endocrinology 2020 10 11 540683.
Cattoni Alessandro, Spano Alice, Tulone Anna, Boneschi Annalisa, Masera Nicoletta, Maitz Silvia, Di Blasio Anna Maria, Persani Luca, Guizzardi Fabiana, Rossetti Raffael
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
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
The Journal of clinical endocrinology and metabolism 2022 2 107 (5): e1797-e1806.
Gomes Nathalia Lisboa, Batista Rafael Loch, Nishi Mirian Y, Lerário Antônio Marcondes, Silva Thatiana E, de Moraes Narcizo Amanda, Benedetti Anna Flávia Figueredo, de Assis Funari Mariana Ferreira, Faria Junior José Antônio, Moraes Daniela Rodrigues, Quintão Lia Mesquita Lousada, Montenegro Luciana Ribeiro, Ferrari Maria Teresa Martins, Jorge Alexander A, Arnhold Ivo J P, Costa Elaine Maria Frade, Domenice Sorahia, Mendonca Berenice Bilharin
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.
Life (Basel, Switzerland) 2023 5 13 (5): .
Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scall
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