Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 29 (of 29 Records) |
Query Trace: Charge Syndrome[original query] |
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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. Journal of medical genetics 2006 Apr 43 (4): 306-14. Jongmans M C J, Admiraal R J, van der Donk K P, Vissers L E L M, Baas A F, Kapusta L, van Hagen J M, Donnai D, de Ravel T J, Veltman J A, Geurts van Kessel A, De Vries B B A, Brunner H G, Hoefsloot L H, van Ravenswaaij C M |
CHD7 gene and non-syndromic cleft lip and palate. American journal of medical genetics. Part A 2006 Oct 140 (19): 2110-4. Félix Têmis M, Hanshaw Benjamin C, Mueller Robert, Bitoun Pierre, Murray Jeffrey |
FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2006 May 836 (1-2): 39-46. Venza Mario, Visalli Maria, Venza Isabella, Torino Claudia, Saladino Rita, Teti Dia |
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. European journal of medical genetics 0 51 (5): 417-25. Bergman Jorieke E H, de Wijs Ilse, Jongmans Marjolijn C J, Admiraal Ronald J, Hoefsloot Lies H, van Ravenswaaij-Arts Conny M |
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clinical genetics 2009 Jan 75 (1): 65-71. Jongmans M C J, van Ravenswaaij-Arts C M A, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten H L, van der Donk K, Seminara S, Bergman J E H, Brunner H G, Crowley W F, Hoefsloot L |
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American journal of medical genetics. Part A 2010 Mar 152A (3): 674-86. Zentner Gabriel E, Layman Wanda S, Martin Donna M, Scacheri Peter |
CHD7 gene polymorphisms and familial idiopathic scoliosis. Spine 2013 Oct 38 (22): E1432-6. Tilley Mera K, Justice Cristina M, Swindle Kandice, Marosy Beth, Wilson Alexander F, Miller Nancy |
The cardiac phenotype in patients with a CHD7 mutation. Circulation. Cardiovascular genetics 2013 Jun 6 (3): 248-54. Corsten-Janssen Nicole, Kerstjens-Frederikse Wilhelmina S, du Marchie Sarvaas Gideon J, Baardman Maria E, Bakker Marian K, Bergman Jorieke E H, Hove Hanne D, Heimdal Ketil R, Rustad Cecilie F, Hennekam Raoul C M, Hofstra Robert M W, Hoefsloot Lies H, Van Ravenswaaij-Arts Conny M A, Kapusta Liv |
Colorectal carcinomas with CpG island methylator phenotype 1 frequently contain mutations in chromatin regulators. Gastroenterology 2014 Feb 146 (2): 530-38.e5. Tahara Tomomitsu, Yamamoto Eiichiro, Madireddi Priyanka, Suzuki Hiromu, Maruyama Reo, Chung Woonbok, Garriga Judith, Jelinek Jaroslav, Yamano Hiro-O, Sugai Tamotsu, Kondo Yutaka, Toyota Minoru, Issa Jean-Pierre J, Estécio Marcos R |
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. American journal of medical genetics. Part A 2014 Dec 164A (12): 3003-9. Corsten-Janssen Nicole, du Marchie Sarvaas Gideon J, Kerstjens-Frederikse Wilhelmina S, Hoefsloot Lies H, van Beynum Ingrid M, Kapusta Livia, van Ravenswaaij-Arts Conny M |
Genetics of congenital hypogonadotropic hypogonadism in Denmark. European journal of medical genetics 2014 Jul 57 (7): 345-8. Tommiska Johanna, Känsäkoski Johanna, Christiansen Peter, Jørgensen Niels, Lawaetz Jacob Gerner, Juul Anders, Raivio Tane |
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. International journal of cardiology. Heart & vasculature 2016 Sep 12 21-25. Corsten-Janssen Nicole, van Ravenswaaij-Arts Conny M A, Kapusta Liv |
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov . Xu Cheng, Cassatella Daniele, van der Sloot Almer M, Quinton Richard, Hauschild Michael, De Geyter Christian, Flück Christa, Feller Katrin, Bartholdi Deborah, Nemeth Attila, Halperin Irene, Pekic Djurdjevic Sandra, Maeder Philippe, Papadakis Georgios, Dwyer Andrew A, Marino Laura, Favre Lucie, Pignatelli Duarte, Niederländer Nicolas J, Acierno James, Pitteloud Nel |
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. AJNR. American journal of neuroradiology 2018 9 39 (10): 1938-1942. de Geus C M, Bergman J E H, van Ravenswaaij-Arts C M A, Meiners L |
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39 (6): 732-738. Boudewyns An, van den Ende Jenneke, Sommen Manou, Wuyts Wim, Peeters Nils, Van de Heyning Paul, Van Camp G |
ALS and CHARGE syndrome: a clinical and genetic study. Acta neurologica Belgica 2018 10 118 (4): 629-635. Ungaro Carmine, Citrigno Luigi, Trojsi Francesca, Sprovieri Teresa, Gentile Giulia, Muglia Maria, Monsurrò Maria Rosaria, Tedeschi Gioacchino, Cavallaro Sebastiano, Conforti Francesca Lui |
Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports 2019 8 9 (1): 11976. Ideura Michie, Nishio Shin-Ya, Moteki Hideaki, Takumi Yutaka, Miyagawa Maiko, Sato Teruyuki, Kobayashi Yumiko, Ohyama Kenji, Oda Kiyoshi, Matsui Takamichi, Ito Tsukasa, Suzumura Hiroshi, Nagai Kyoko, Izumi Shuji, Nishiyama Nobuhiro, Komori Manabu, Kumakawa Kozo, Takeda Hidehiko, Kishimoto Yoko, Iwasaki Satoshi, Furutate Sakiko, Ishikawa Kotaro, Fujioka Masato, Nakanishi Hiroshi, Nakayama Jun, Horie Rie, Ohta Yumi, Naito Yasushi, Kakudo Mariko, Sakaguchi Hirofumi, Kataoka Yuko, Sugahara Kazuma, Hato Naohito, Nakagawa Takashi, Tsuchihashi Nana, Kanda Yukihiko, Kihara Chiharu, Tono Tetsuya, Miyanohara Ikuyo, Ganaha Akira, Usami Shin-Ic |
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants. BMC medical genetics 2019 May 20 (1): 93. Chen Xiang, Yan Kai, Gao Yanyan, Wang Huijun, Chen Guoqiang, Wu Bingbing, Qin Qian, Yang Lin, Zhou Wenh |
Targeted next?generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. Molecular medicine reports 2019 Mar . Bu Haisong, Liu Lin, Hu Shijun, Tan Zhiping, Zhao Tian |
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism. Scientific reports 2019 2 9 (1): 1597. Gonçalves Catarina Inês, Patriarca Filipa Marina, Aragüés José Maria, Carvalho Davide, Fonseca Fernando, Martins Sofia, Marques Olinda, Pereira Bernardo Dias, Martinez-de-Oliveira José, Lemos Manuel Carl |
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort. The Journal of clinical endocrinology and metabolism 2019 11 105 (5): . Li Jia-Da, Wu Jiayu, Zhao Yaguang, Wang Xinying, Jiang Fang, Hou Qiao, Chen Dan-Na, Zheng Ruizhi, Yu Renhe, Zhou Wei, Men Meich |
CHARGE syndrome without colobomas: Ophthalmic findings. American journal of medical genetics. Part C, Seminars in medical genetics 2020 9 184 (3): 611-617. Dosunmu Eniolami O, Castleberry Katherine |
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 |
An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development. Neuroscience bulletin 2021 5 37 (8): 1091-1106. Zhang Ran, He Hui, Yuan Bo, Wu Ziyan, Wang Xiuzhen, Du Yasong, Chen Yuejun, Qiu Zilo |
De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome. ORL; journal for oto-rhino-laryngology and its related specialties 2022 1 84 (5): 417-424. Wang Shujuan, Lin Ying, Liang Pengfei, Li Qiong, Li Wei, Wang Zhaoxia, Wang Jian, Chen Jun, Zha Dingj |
Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics. Frontiers in genetics 2022 1 12 770680. Sun Bang, Wang Xi, Mao Jiangfeng, Zhao Zhiyuan, Zhang Wei, Nie Min, Wu Xuey |
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct. Human genetics 2023 9 . Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A Lopez, Kyungreem Han, Keiji Honda, Carmen C Brewer, John A Butman, Robert J Morell, Donna M Martin, Andrew J Griffi |
Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study. Heliyon 2023 11 9 (11): e21546. Bin Liang, Fang Yang, Hailong Huang, Zhaozhen Liu, Qingqiang Ji, Yan Wang, Xiaoqing Wu, Yuan Lin, Lanting Xie, Wantong Zhao, Hua Cao, Liangpu Xu, Na L |
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes. The Journal of clinical endocrinology and metabolism 2024 5 . Julian Martinez-Mayer, Sebastian Vishnopolska, Catalina Perticarari, Lucia Iglesias Garcia, Martina Hackbartt, Marcela Martinez, Jonathan Zaiat, Andrea Jacome-Alvarado, Debora Braslavsky, Ana Keselman, Ignacio Bergadá, Roxana Marino, Pablo Ramírez, Natalia Pérez Garrido, Marta Ciaccio, Maria Isabel Di Palma, Alicia Belgorosky, Maria Veronica Forclaz, Gabriela Benzrihen, Silvia D'Amato, Maria Lujan Cirigliano, Mirta Miras, Alejandra Paez Nuñez, Laura Castro, Maria Susana Mallea-Gil, Carolina Ballarino, Laura Latorre-Villacorta, Ana Clara Casiello, Claudia Hernandez, Veronica Figueroa, Guillermo Alonso, Analia Morin, Zelmira Guntsche, Hane Lee, Eugene Lee, Yongjun Song, Marcelo Adrian Marti, Maria Ines Perez-Mill |
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