Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 35 Records) |
Query Trace: Partial Deletion Of Y[original query] |
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Mutations in SOHLH1 gene associate with nonobstructive azoospermia. Human mutation 2010 Jul 31 (7): 788-93. Choi Youngsok, Jeon Sanghyun, Choi Mikyung, Lee Min-ho, Park Miseon, Lee Dong Ryul, Jun Kyu-Yeon, Kwon Youngjoo, Lee Ok-Hee, Song Seung-Hun, Kim Ji-Young, Lee Kyung-Ah, Yoon Tae Ki, Rajkovic Aleksandar, Shim Sung H |
Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population. Journal of the European Academy of Dermatology and Venereology : JEADV 2010 Oct 24 (10): 1226-9. Cañueto J, Ciria S, Hernández-Martín A, Unamuno P, González-Sarmiento |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Human mutation 2011 Jan 32 (1): E1959-75. Depienne Christel, Trouillard Oriane, Bouteiller Delphine, Gourfinkel-An Isabelle, Poirier Karine, Rivier François, Berquin Patrick, Nabbout Rima, Chaigne Denys, Steschenko Dominique, Gautier Agnès, Hoffman-Zacharska Dorota, Lannuzel Annie, Lackmy-Port-Lis Marilyn, Maurey Hélène, Dusser Anne, Bru Marie, Gilbert-Dussardier Brigitte, Roubertie Agathe, Kaminska Anna, Whalen Sandra, Mignot Cyril, Baulac Stéphanie, Lesca Gaetan, Arzimanoglou Alexis, LeGuern Er |
Association of KIR2DS4 and its variant KIR1D with syphilis in a Chinese Han population. International journal of immunogenetics 2012 Apr 39 (2): 114-8. Zhuang Y-L, Zhu C-F, Zhang Y, Song Y-H, Wang D-J, Nie X-M, Liu Y, Ren G |
A genomic deletion causes truncation of ?-spectrin and ellipto-poikilocytosis. Blood cells, molecules & diseases 2011 1 46 (3): 195-200. Iolascon A, King M-J, Robertson S, Avvisati R A, Vitiello F, Asci R, Scoppettuolo M N, Delaunay |
Impaired spermatogenesis and gr/gr deletions related to Y chromosome haplogroups in Korean men. PloS one 2012 7 (8): e43550. Choi Jin, Song Seung-Hun, Bak Chong Won, Sung Se Ra, Yoon Tae Ki, Lee Dong Ryul, Shim Sung H |
Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012 Jun 159B (4): 465-75. Van Den Bossche Maarten J, Strazisar Mojca, De Bruyne Stephan, Bervoets Chris, Lenaerts An-Sofie, De Zutter Sonia, Nordin Annelie, Norrback Karl-Fredrik, Goossens Dirk, De Rijk Peter, Green Elaine K, Grozeva Detelina, Mendlewicz Julien, Craddock Nick, Sabbe Bernard G, Adolfsson Rolf, Souery Daniel, Del-Favero Jurg |
Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. The pharmacogenomics journal 2013 Dec 13 (6): 558-66. Martis S, Mei H, Vijzelaar R, Edelmann L, Desnick R J, Scott S |
Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment. Molecular human reproduction 2014 Sep 20 (9): 836-43. Lu Chuncheng, Jiang Jie, Zhang Ruyang, Wang Ying, Xu Miaofei, Qin Yufeng, Lin Yuan, Guo Xuejiang, Ni Bixian, Zhao Yang, Diao Nancy, Chen Feng, Shen Hongbing, Sha Jiahao, Xia Yankai, Hu Zhibin, Wang Xin |
Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population. Journal of clinical and diagnostic research : JCDR 2014 Mar 8 (3): 88-91. Ambulkar Prafulla S, Sigh Ramji, Reddy Mvr, Varma Poonam S, Gupta Dilip O, Shende Moreshwar R, Pal Asoke |
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. Neuro-Chirurgie 2015 Jun . Pasmant E, Louvrier C, Luscan A, Cohen J, Laurendeau I, Vidaud M, Vidaud D, Goutagny S, Kalamarides M, Parfait |
Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination. Scientific reports 2015 5 10551. Yang Bo, Ma Yong-yi, Liu Yun-qiang, Li Lei, Yang Dong, Tu Wen-ling, Shen Ying, Dong Qiang, Yang Yu |
Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia. Andrologia 2016 Nov 48 (9): 890-894. Alimardanian L, Saliminejad K, Razi S, Ahani |
Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure. Biology of reproduction 2017 Feb . Shen Ying, Xu Jinyan, Yang Xiling, Liu Yunqiang, Ma Yongyi, Yang Dong, Dong Qiang, Yang Yu |
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 |
Analysis of partial AZFc (gr/gr, b1/b3, and b2/b3) deletions in Iranian oligozoospermia candidates for intracytoplasmic sperm injection (ICSI). Turkish journal of medical sciences 2018 5 48 (2): 251-256. Ataei Mitra, Akbarian Fatemeh, Talebi Mahba Ataei, Dolati Peyman, Mobaraki Maryam, Faraji Abolfazl, Houshmand Masso |
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics 2019 Sep . Sekiguchi Futoshi, Tsurusaki Yoshinori, Okamoto Nobuhiko, Teik Keng Wee, Mizuno Seiji, Suzumura Hiroshi, Isidor Bertrand, Ong Winnie Peitee, Haniffa Muzhirah, White Susan M, Matsuo Mari, Saito Kayoko, Phadke Shubha, Kosho Tomoki, Yap Patrick, Goyal Manisha, Clarke Lorne A, Sachdev Rani, McGillivray George, Leventer Richard J, Patel Chirag, Yamagata Takanori, Osaka Hitoshi, Hisaeda Yoshiya, Ohashi Hirofumi, Shimizu Kenji, Nagasaki Keisuke, Hamada Junpei, Dateki Sumito, Sato Takashi, Chinen Yasutsugu, Awaya Tomonari, Kato Takeo, Iwanaga Kougoro, Kawai Masahiko, Matsuoka Takashi, Shimoji Yoshikazu, Tan Tiong Yang, Kapoor Seema, Gregersen Nerine, Rossi Massimiliano, Marie-Laure Mathieu, McGregor Lesley, Oishi Kimihiko, Mehta Lakshmi, Gillies Greta, Lockhart Paul J, Pope Kate, Shukla Anju, Girisha Katta Mohan, Abdel-Salam Ghada M H, Mowat David, Coman David, Kim Ok Hwa, Cordier Marie-Pierre, Gibson Kate, Milunsky Jeff, Liebelt Jan, Cox Helen, El Chehadeh Salima, Toutain Annick, Saida Ken, Aoi Hiromi, Minase Gaku, Tsuchida Naomi, Iwama Kazuhiro, Uchiyama Yuri, Suzuki Toshifumi, Hamanaka Kohei, Azuma Yoshiteru, Fujita Atsushi, Imagawa Eri, Koshimizu Eriko, Takata Atsushi, Mitsuhashi Satomi, Miyatake Satoko, Mizuguchi Takeshi, Miyake Noriko, Matsumoto Naomic |
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. Investigative ophthalmology & visual science 2019 8 60 (10): 3388-3397. Charbel Issa Peter, Gliem Martin, Yusuf Imran H, Birtel Johannes, Müller Philipp L, Mangold Elisabeth, Downes Susan M, MacLaren Robert E, Betz Christian, Bolz Hanno |
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition. Clinical genetics 2019 Jul . Gambale Antonella, Russo Roberta, Andolfo Immacolata, Quaglietta Lucia, De Rosa Gianluca, Contestabile Valentina, De Martino Lucia, Genesio Rita, Pignataro Piero, Giglio Sabrina, Capasso Mario, Parasole Rosanna, Pasini Barbara, Iolascon Achil |
Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience. Andrology 2019 7 8 (2): 307-314. Pinho A, Barros A, Fernandes |
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 |
Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases. Journal of biotechnology 2019 May . Nagy Orsolya, Szakszon Katalin, Biró Brigitta Orsolya, Mogyorósy Gábor, Nagy Dóra, Nagy Bálint, Balogh István, Ujfalusi Ani |
[Germinal mosaicism for partial deletion of the Dystrophin gene in a family affected with Duchenne muscular dystrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 10 36 (10): 1015-1018. Xiao Hai, Zhang Zhaojing, Li Tao, Zhang Qian, Guo Qiannan, Wu Dong, Wang Hongdan, Zhang Mengting, Gao Yue, Liao Shix |
[Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 459-461. Shen Xueping, Qi Fengfeng, Gu Chunji |
[Prenatal diagnosis for two fetuses carrying partial deletion of Y chromosome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 2 37 (2): 182-185. Pang Hong, Gao Ming, Hua Jun, Tong Dan, Zhao Yanhui, Feng Xiaoji |
Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene. Experimental dermatology 2021 3 30 (5): 676-683. Kim Hwa Young, Song Hyun Beom, Kim Kyu Han, Kim Jeong Hun, Chae Jong-Hee, Kim Man Jin, Seong Moon-Woo, Ko Jung M |
[Genetic analysis of a case with a supernumerary marker derived from chromosome 9]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1410-1414. Zhuang Qianmei, Yan Meizhen, Jiang Yuying, Chen Xinying, Zhang Na, Lyu Chunling, Wu Jialing, Wang Yuanb |
[Analysis of copy number variation in AZF region of Y chromosome in patients with spermatogenic failure]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1068-1074. Hui Gao, Lijuan Wang, Yaqin Song, Di Ma, Rui Nie, Yuhua Hu, Huiyan He, Ruanzhang Zhang, Shayan Wang, Hui G |
Hidden protein-altering variants influence diverse human phenotypes. bioRxiv : the preprint server for biology 2023 6 . Margaux L A Hujoel, Robert E Handsaker, Maxwell A Sherman, Nolan Kamitaki, Alison R Barton, Ronen E Mukamel, Chikashi Terao, Steven A McCarroll, Po-Ru L |
Analysis of the correlation between gene copy deletion in the AZFc region and male infertility in Japanese men. Reproductive biology 2023 1 23 (1): 100728. Nakagawa Yusuke, Tada Atsushi, Kojo Kosuke, Tsuchiya Haruki, Kurobe Masahiro, Uchida Masahiro, Yamasaki Kazumitsu, Iwamoto Teruaki, Sato Youic |
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