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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 8, 2023. (Total: 223846Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Coloboma and CHD7[original query]
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
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
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
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
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
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
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
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
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
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