Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 32 Records) |
| Query Trace: Gonadal Dysgenesis[original query] |
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| Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development. The Journal of clinical endocrinology and metabolism 2011 Jul 96 (7): E1131-6. Köhler B, Biebermann H, Friedsam V, Gellermann J, Maier R F, Pohl M, Wieacker P, Hiort O, Grüters A, Krude |
| Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis. European journal of medical genetics 2012 Dec 55 (12): 690-4. Machado Aline Zamboni, da Silva Thatiana Evilen, Frade Costa Elaine Maria, Dos Santos Mariza Gerdulo, Nishi Mirian Yumie, Brito Vinicius Nahime, Mendonca Berenice Bilharinho, Domenice Sorah |
| 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 |
| A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. Journal of clinical research in pediatric endocrinology 2016 Apr . Dursun Fatma, Mohamoud Hussein Sheikh Ali, Karim Noreen, Naeem Muhammad, Jelani Musharraf, K?rm?z?bekmez Hev |
| Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. Clinical endocrinology 2016 Mar . Juniarto Zulfa, van der Zwan Yvonne G, Santosa Ardy, Ariani Mahayu Dewi, Eggers Stefanie, Hersmus Remko, Themmen Axel P N, Bruggenwirth Hennie T, Wolffenbuttel Katja P, Sinclair Andrew, White Stefan J, Looijenga Leendert H J, de Jong Frank H, Faradz Sultana M H, Drop Stenvert L |
| 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 |
| GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes. Frontiers in endocrinology 2018 4 9 142. Martinez de LaPiscina Idoia, de Mingo Carmen, Riedl Stefan, Rodriguez Amaia, Pandey Amit V, Fernández-Cancio Mónica, Camats Nuria, Sinclair Andrew, Castaño Luis, Audi Laura, Flück Christa |
| Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis. Gene 2019 8 718 144072. Xue Mei, Wang Xiang, Li Cui, Zhao Minggang, He Fang, Li |
| 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 |
| Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul . McElreavey Ken, Jorgensen Anne, Eozenou Caroline, Merel Tiphanie, Bignon-Topalovic Joelle, Tan Daisylyn Senna, Houzelstein Denis, Buonocore Federica, Warr Nick, Kay Raissa G G, Peycelon Matthieu, Siffroi Jean-Pierre, Mazen Inas, Achermann John C, Shcherbak Yuliya, Leger Juliane, Sallai Agnes, Carel Jean-Claude, Martinerie Laetitia, Le Ru Romain, Conway Gerard S, Mignot Brigitte, Van Maldergem Lionel, Bertalan Rita, Globa Evgenia, Brauner Raja, Jauch Ralf, Nef Serge, Greenfield Andy, Bashamboo A |
| Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. The Journal of clinical endocrinology and metabolism 2019 Jul . da Silva Thatiana Evilen, Gomes Nathalia Lisboa, Lerário Antonio Marcondes, Keegan Catherine Elizabeth, Nishi Mirian Yumi, Carvalho Filomena Marino, Vilain Eric, Barseghyan Hayk, Martinez-Aguayo Alejandro, Forclaz María Verónica, Papazian Regina, Pedroso de Paula Leila Cristina, Costa Eduardo Corrêa, Carvalho Luciani Renata, Jorge Alexander Augusto Lima, Elias Felipe Martins, Mitchell Rod, Costa Elaine Maria Frade, Mendonca Berenice Bilharinho, Domenice Sorah |
| Refractory Hypertension in Infantile-Onset Denys-Drash Syndrome. The Tohoku journal of experimental medicine 2020 9 252 (1): 45-51. Nishi Kentaro, Kamei Koichi, Ogura Masao, Sato Mai, Murakoshi Miki, Kamae Chikako, Suzuki Ryutaro, Kanamori Toru, Nagano China, Nozu Kandai, Ishikura Kenji, Ito Shuic |
| [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 |
| [Clinical Findings in Two patients with DSD 46XY caused by new variant of the Desert Hedgehog Gene and review of the literature of the role of DHH signaling pathway in sex development]. Problemy endokrinologii 2021 7 67 (3): 73-77. Kalinchenko N Y, Batyrova Z K, Kostrova I B, Kolodkina A A, Uvarova E N, Kumykova Z Kh, Asaturova A V, Khabas G N, Tiulpakov A |
| Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2021 7 15 (4): 244-252. Zidoune Housna, Martinerie Laetitia, Tan Daisylyn S, Askari Masomeh, Rezgoune Djalila, Ladjouze Asmahane, Boukri Asma, Benelmadani Yasmina, Sifi Karima, Abadi Noureddine, Satta Dalila, Rastari Mandana, Seresht-Ahmadi Mehrshad, Bignon-Topalovic Joelle, Mazen Inas, Leger Juliane, Simon Dominique, Brauner Raja, Totonchi Mehdi, Jauch Ralf, Bashamboo Anu, McElreavey Kenne |
| Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility. Journal of assisted reproduction and genetics 2021 3 38 (7): 1871-1878. Mehta Poonam, Singh Priyamvada, Gupta Nalini J, Sankhwar Satya Narayan, Chakravarty Baidyanath, Thangaraj Kumarasamy, Rajender Sin |
| 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 |
| A conserved function of Human DLC3 and Drosophila Cv-c in testis development. eLife 2022 11 11 . Sotillos Sol, von der Decken Isabel, Domenech Mercadé Ivan, Srinivasan Sriraksha, Sirokha Dmytro, Livshits Ludmila, Vanni Stefano, Nef Serge, Biason-Lauber Anna, Rodríguez Gutiérrez Daniel, Castelli-Gair Hombría Jam |
| 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 |
| Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. Reproductive biology and endocrinology : RB&E 2023 1 21 (1): 2. Rjiba Khouloud, Mougou-Zerelli Soumaya, Hamida Imen Hadj, Saad Ghada, Khadija Bochra, Jelloul Afef, Slimani Wafa, Hasni Yosra, Dimassi Sarra, Khelifa Hela Ben, Sallem Amira, Kammoun Molka, Abdallah Hamza Hadj, Gribaa Moez, Bignon-Topalovic Joelle, Chelly Sami, Khairi Hédi, Bibi Mohamed, Kacem Maha, Saad Ali, Bashamboo Anu, McElreavey Kenne |
| Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants. Case reports in pediatrics 2024 7 2024 4896940. Katia Margiotti, Francesco Libotte, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandi |
- Page last reviewed:Feb 1, 2024
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