Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 54 Records) |
Query Trace: Microphthalmia[original query] |
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The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma. The Journal of clinical endocrinology and metabolism 2016 Sep jc20162103. Castro-Vega Luis Jaime, Kiando Soto Romuald, Burnichon Nelly, Buffet Alexandre, Amar Laurence, Simian Christophe, Berdelou Amandine, Galan Pilar, Schlumberger Martin, Bouatia-Naji Nabila, Favier Judith, Bressac-de Paillerets Brigitte, Gimenez-Roqueplo Anne-Pau |
Mandibular dysostosis without microphthalmia caused by OTX2 deletion. American journal of medical genetics. Part A 2016 Jul . Latypova Xénia, Bordereau Sylvain, Bleriot Alice, Pichon Olivier, Poulain Damien, Briand Annaïg, Le Caignec Cédric, Isidor Bertra |
Genetic variation in the MITF promoter affects skin colour and transcriptional activity in black-boned chickens. British poultry science 2017 9 59 (1): 21-27. Wang G, Liao J, Tang M, Yu |
Identification of polymorphisms in MITF and DCT genes and their associations with plumage colors in Asian duck breeds. Asian-Australasian journal of animal sciences 2017 8 31 (2): 180-188. Sultana Hasina, Seo Dongwon, Choi Nu-Ri, Bhuiyan Md Shamsul Alam, Lee Seung Hwan, Heo Kang-Nyeong, Lee Jun-He |
Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. Genetic testing and molecular biomarkers 2017 11 21 (12): 742-746. Astiazarán Mirena C, Cervantes-Sodi María, Rebolledo-Enríquez Erick, Chacón-Camacho Oscar, Villegas Vanessa, Zenteno Juan Carl |
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. Journal of human genetics 2018 9 63 (11): 1169-1180. Matías-Pérez Diana, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, García-Montalvo Iván A, Nava-Valdéz Jessica, Barragán-Arevalo Tania, Villanueva-Mendoza Cristina, Villarroel Camilo E, Guadarrama-Vallejo Clavel, la Cruz Rocío Villafuerte-de, Chacón-Camacho Oscar, Zenteno Juan |
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Human genetics 2018 7 137 (9): 689-703. Du Renqian, Dinckan Nuriye, Song Xiaofei, Coban-Akdemir Zeynep, Jhangiani Shalini N, Guven Yeliz, Aktoren Oya, Kayserili Hulya, Petty Lauren E, Muzny Donna M, Below Jennifer E, Boerwinkle Eric, Wu Nan, Gibbs Richard A, Posey Jennifer E, Lupski James R, Letra Ariadne, Uyguner Z O |
Evaluating the association of bone morphogenetic protein 4-V152A and SIX homeobox 6-H141N polymorphisms with congenital cataract and microphthalmia in Western Indian population. Journal of postgraduate medicine 0 64 (2): 86-91. Vidya N G, Vasavada A R, Rajkumar |
Identification of PITX3 mutations in individuals with various ocular developmental defects. Ophthalmic genetics 2018 2 39 (3): 314-320. Zazo Seco Celia, Plaisancié Julie, Lupasco Tatiana, Michot Caroline, Pechmeja Jacmine, Delanne Julian, Cottereau Edouard, Ayuso Carmen, Corton Marta, Calvas Patrick, Ragge Nicola, Chassaing Nicol |
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. Ophthalmic genetics 2018 Feb 1-9. Vidya Nair Gopinathan, Rajkumar Sankaranarayanan, Vasavada Abhay |
Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile Polymorphisms with Congenital Cataract and Microphthalmia. Journal of ophthalmic & vision research 0 13 (4): 397-402. Vidya Nair Gopinathan, Ganatra Darshini, Vasavada Abhay R, Rajkumar Sankaranarayan |
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. Molecular vision 2019 11 25 527-534. Siggs Owen M, Souzeau Emmanuelle, Breen James, Qassim Ayub, Zhou Tiger, Dubowsky Andrew, Ruddle Jonathan B, Craig Jamie |
Integrated Analysis of mRNA Expression, CpG Island Methylation, and Polymorphisms in the MITF Gene in Ducks (Anas platyrhynchos). BioMed research international 2019 10 2019 8512467. Lin Ruiyi, Lin Weimin, Zhou Shiye, Chen Qiaohui, Pan Jiahua, Miao Yuanxin, Zhang Mengwen, Huang Zhongbin, Xiao Tianfa |
The recessive C locus in the MITF gene plays a key regulatory role in the plumage colour pattern of duck (Anas platyrhynchos). British poultry science 2018 Dec . Yang L, Mo C, Shen W, Du X, Akbar Bhuiyan A, Li L, Li N, Gong Y, Li |
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Clinical genetics 2020 8 98 (5): 499-506. Islam Farrah, Htun Stephanie, Lai Li-Wen, Krall Max, Poranki Menitha, Martin Pierre-Marie, Sobreira Nara, Wohler Elizabeth S, Yu Jingwei, Moore Anthony T, Slavotinek Anne |
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. Scientific reports 2020 7 10 (1): 10985. Kinjo Kenichi, Nagasaki Keisuke, Muroya Koji, Suzuki Erina, Ishiwata Keisuke, Nakabayashi Kazuhiko, Hattori Atsushi, Nagao Koji, Nozawa Ryu-Suke, Obuse Chikashi, Miyado Kenji, Ogata Tsutomu, Fukami Maki, Miyado Ma |
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa. Experimental eye research 2020 6 197 108118. Liu Xing, Li Jiali, Lin Shufen, Xiao Xueshan, Luo Jingyi, Wei Wei, Ling Yunlan, Fang Lei, Xiao Hui, Chen Liming, Huang Jingjing, Zhong Yimin, Zhang Qingjio |
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clinical genetics 2020 12 99 (3): 437-442. Reis Linda M, Costakos Deborah, Wheeler Patricia G, Bardakjian Tanya, Schneider Adele, Fung Simon S M, , Semina Elena |
Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing. Molecular genetics & genomic medicine 2020 1 8 (3): e1128. Ren Shumin, Chen Xiaojie, Kong Xiangdong, Chen Yibing, Wu Qinghua, Jiao Zhihui, Shi Huiro |
Effect of BsaA I genotyped intronic SNP of leptin gene on production and reproduction traits in Indian dairy cattle. Animal biotechnology 2021 8 1-7. Yadav Tejwanti, Magotra Ankit, Bangar Yogesh C, Kumar Ramesh, Yadav A S, Garg Asha Rani, Bahurupi Pooja, Kumar Pank |
A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2. Molecular syndromology 2021 8 12 (4): 244-249. Li Ying, Xu Yajuan, Li Genxia, Chen Kang, Yu Haiyang, Gao Jinshuang, Tian Weifang, Liu Yuehua, Liu Pingping, Zhang Linlin, Zhang Zh |
Expanding the phenotype of E318K (c.952G?>?A) MITF germline mutation carriers: case series and review of the literature. Hereditary cancer in clinical practice 2021 Jul 19 (1): 32. Oliveira Leandro Jonata Carvalho, Gongora Aline Bobato Lara, Lima Fabiola Ambrosio Silveira, Canedo Felipe Sales Nogueira Amorim, Quirino Carla Vanessa, Pisani Janina Pontes, Achatz Maria Isabel, Rossi Benedito Mau |
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. Genetics in medicine : official journal of the American College of Medical Genetics 2021 6 23 (9): 1636-1647. Polubothu Satyamaanasa, Zecchin Davide, Al-Olabi Lara, Lionarons Daniël A, Harland Mark, Horswell Stuart, Thomas Anna C, Hunt Lilian, Wlodarchak Nathan, Aguilera Paula, Brand Sarah, Bryant Dale, Carrera Cristina, Chen Hui, Elgar Greg, Harwood Catherine A, Howell Michael, Larue Lionel, Loughlin Sam, MacDonald Jeff, Malvehy Josep, Barberan Sara Martin, da Silva Vanessa Martins, Molina Miriam, Morrogh Deborah, Moulding Dale, Nsengimana Jérémie, Pittman Alan, Puig-Butillé Joan-Anton, Parmar Kiran, Sebire Neil J, Scherer Stephen, Stadnik Paulina, Stanier Philip, Tell Gemma, Waelchli Regula, Zarrei Mehdi, Puig Susana, Bataille Véronique, Xing Yongna, Healy Eugene, Moore Gudrun E, Di Wei-Li, Newton-Bishop Julia, Downward Julian, Kinsler Veronica |
Identification of missense MAB21L1 variants in microphthalmia and aniridia. Human mutation 2021 5 42 (7): 877-890. Seese Sarah E, Reis Linda M, Deml Brett, Griffith Christopher, Reich Adi, Jamieson Robyn V, Semina Elena |
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families. International journal of molecular sciences 2021 3 22 (4): . Harding Philippa, Toms Maria, Schiff Elena, Owen Nicholas, Bell Suzannah, Lloyd Ian Christopher, Moosajee Mari |
PD-L1 expression is regulated by microphthalmia-associated transcription factor (MITF) in nodular melanoma. Pathology, research and practice 2021 12 229 153725. Vu?ini? Damir, Grahovac Maja, Grahovac Blaženka, Vitezi? Bojana Mohar, Kova? Leo, Beluši?-Gobi? Margita, Zamolo Gorda |
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes 2021 1 12 (1): . Haug Patricia, Koller Samuel, Maggi Jordi, Lang Elena, Feil Silke, Wlodarczyk Agnès, Bähr Luzy, Steindl Katharina, Rohrbach Marianne, Gerth-Kahlert Christina, Berger Wolfga |
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clinical genetics 2022 2 101 (5-6): 494-506. Chesneau Bertrand, Aubert-Mucca Marion, Fremont Félix, Pechmeja Jacmine, Soler Vincent, Isidor Bertrand, Nizon Mathilde, Dollfus Hélène, Kaplan Josseline, Fares-Taie Lucas, Rozet Jean-Michel, Busa Tiffany, Lacombe Didier, Naudion Sophie, Amiel Jeanne, Rio Marlène, Attie-Bitach Tania, Lesage Cécile, Thouvenin Dominique, Odent Sylvie, Morel Godelieve, Vincent-Delorme Catherine, Boute Odile, Vanlerberghe Clémence, Dieux Anne, Boussion Simon, Faivre Laurence, Pinson Lucile, Laffargue Fanny, Le Guyader Gwenaël, Le Meur Guylène, Prieur Fabienne, Lambert Victor, Laudier Beatrice, Cottereau Edouard, Ayuso Carmen, Corton-Pérez Marta, Bouneau Laurence, Le Caignec Cédric, Gaston Véronique, Jeanton-Scaramouche Claire, Dupin-Deguine Delphine, Calvas Patrick, Chassaing Nicolas, Plaisancié Jul |
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. Investigative ophthalmology & visual science 2023 3 64 (3): 19. Wang Panfeng, Wu Pengsen, Wang Junwen, Zeng Yiyan, Jiang Yi, Wang Yingwei, Li Shiqiang, Xiao Xueshan, Zhang Qingjio |
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics : EJHG 2023 3 . Kesim Yesim, Ceroni Fabiola, Damián Alejandra, Blanco-Kelly Fiona, Ayuso Carmen, Williamson Kathy, Paquis-Flucklinger Véronique, Bax Dorine A, Plaisancié Julie, Rieubland Claudine, Chamlal Mostafa, Cortón Marta, Chassaing Nicolas, Calvas Patrick, Ragge Nicola |
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- Page last updated:Apr 22, 2024
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