Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 17 (of 17 Records) |
Query Trace: Kabuki Syndrome[original query] |
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Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. Journal of medical genetics 2008 Jul 45 (7): 479-80. Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura K-i, Niikawa |
A mutation screen in patients with Kabuki syndrome. Human genetics 2011 Dec 130 (6): 715-24. Li Yun, Bögershausen Nina, Alanay Yasemin, Simsek Kiper Pelin Ozlem, Plume Nadine, Keupp Katharina, Pohl Esther, Pawlik Barbara, Rachwalski Martin, Milz Esther, Thoenes Michaela, Albrecht Beate, Prott Eva-Christina, Lehmkühler Margret, Demuth Stephanie, Utine Gülen Eda, Boduroglu Koray, Frankenbusch Katja, Borck Guntram, Gillessen-Kaesbach Gabriele, Yigit Gökhan, Wieczorek Dagmar, Wollnik Ber |
Clinical and molecular spectrum of renal malformations in Kabuki syndrome. The Journal of pediatrics 2013 Sep 163 (3): 742-6. Courcet Jean-Benoît, Faivre Laurence, Michot Caroline, Burguet Antoine, Perez-Martin Stéphanie, Alix Eudeline, Amiel Jeanne, Baumann Clarisse, Cordier Marie-Pierre, Cormier-Daire Valérie, Delrue Marie Ange, Gilbert-Dussardier Brigitte, Goldenberg Alice, Jacquemont Marie-Line, Jaquette Aurélia, Kayirangwa Honorine, Lacombe Didier, Le Merrer Martine, Toutain Annick, Odent Sylvie, Moncla Anne, Pelet Anna, Philip Nicole, Pinson Lucille, Poisson Sylvain, Kim-Han Le Quan Sang, Roume Joelle, Sanchez Elodie, Willems Marjolaine, Till Marianne, Vincent-Delorme Catherine, Mousson Christiane, Vinault Sandrine, Binquet Christine, Huet Frédéric, Sarda Pierre, Salomon Rémi, Lyonnet Stanislas, Sanlaville Damien, Geneviève Dav |
Growth pattern in Kabuki syndrome with a KMT2D mutation. American journal of medical genetics. Part A 2016 Aug . Schott Dina A, Blok Marinus J, Gerver Willem J M, Devriendt Koenraad, Zimmermann Luc J I, Stumpel Constance T R |
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. Clinical genetics 2016 09 90 (3): 230-7. Paderová J, Holubová A, Simandlová M, Puchmajerová A, Vlcková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeríková M, Ptáková N, Drábová J, Geryk J, Maver A, Krepelová A, Macek |
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. Clinical endocrinology 2018 9 89 (5): 621-627. Laver Thomas W, Wakeling Matthew N, Hua Janet Hong Yeow, Houghton Jayne A L, Hussain Khalid, Ellard Sian, Flanagan Sarah |
Pulmonary Manifestations of Common Variable Immunodeficiency. Journal of thoracic imaging 2018 8 33 (6): 377-383. Bang Tami J, Richards John Caleb, Olson Amy L, Groshong Steve D, Gelfand Erwin W, Lynch David |
Neurobehavioral features in individuals with Kabuki syndrome. Molecular genetics & genomic medicine 2018 3 6 (3): 322-331. Caciolo Cristina, Alfieri Paolo, Piccini Giorgia, Digilio Maria Cristina, Lepri Francesca Romana, Tartaglia Marco, Menghini Deny, Vicari Stefa |
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. Journal of human genetics 2018 11 64 (2): 161-170. Faundes Víctor, Malone Geraldine, Newman William G, Banka Siddhar |
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. American journal of medical genetics. Part A 2019 Dec . Wang Yirou, Li Niu, Su Zhe, Xu Yufei, Liu Shijian, Chen Yao, Li Xin, Shen Yiping, Hung Christina, Wang Jian, Wang Xiumin, Bodamer Ol |
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. American journal of medical genetics. Part A 2021 8 185 (12): 3770-3783. Stadelmaier Rachel T, Kenna Margaret A, Barrett Devon, Mullen Thomas E, Bodamer Olaf, Agrawal Pankaj B, Robson Caroline D, Wojcik Monica |
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature. European journal of pediatrics 2021 7 181 (1): 171-187. Di Candia Francesca, Fontana Paolo, Paglia Pamela, Falco Mariateresa, Rosano Carmen, Piscopo Carmelo, Cappuccio Gerarda, Siano Maria Anna, De Brasi Daniele, Mandato Claudia, De Maggio Ilaria, Squeo Gabriella Maria, Monica Matteo Della, Scarano Gioacchino, Lonardo Fortunato, Strisciuglio Pietro, Merla Giuseppe, Melis Danie |
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype. American journal of medical genetics. Part A 2022 9 188 (10): 2976-2987. Usluer Esra, Say?n Gözde Ye?il, Güne? Nilay, Kasap Bu?ra, Tüysüz Beyh |
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Molecular genetics and genomics : MGG 2022 May . Huang Lin, Qi Chang, Zhu Gaohong, Ding Juanjuan, Yuan Li, Sun Jie, He Xuelian, Wang Xiaow |
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. European journal of human genetics : EJHG 2022 12 . Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl |
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel, Switzerland) 2024 4 14 (8): . Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei L |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
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- Page last updated:May 20, 2024
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