scholarly journals CHD7 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Chd7 Gene

scholarly journals De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

2019 ◽  
Vol 12 ◽  
pp. 117863101983901 ◽  
Author(s):  
Laura Pranckėnienė ◽  
Eglė Preikšaitienė ◽  
Lucie Gueneau ◽  
Alexandre Reymond ◽  
Vaidutis Kučinskas
Keyword(s):  
Umbilical Hernia ◽  
Developmental Disorder ◽  
Autosomal Dominant ◽  
De Novo ◽  
Choanal Atresia ◽  
Sensory System ◽  
Charge Syndrome ◽  
Linea Alba ◽  
Congenital Hernia ◽  
Chd7 Gene

CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been shown to cause CHARGE syndrome. Here, we report the identification of a novel de novo p.Asp2119_Pro2120ins6 duplication variant in a conserved region of CHD7 in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.

scholarly journals Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory

2010 ◽  
Vol 14 (6) ◽  
pp. 881-891 ◽  
Author(s):  
Cynthia F. Bartels ◽  
Cheryl Scacheri ◽  
Lashonda White ◽  
Peter C. Scacheri ◽  
Sherri Bale
Keyword(s):  
Commercial Laboratory ◽  
Chd7 Gene

scholarly journals Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly

2016 ◽  
Vol 25 (3) ◽  
pp. 98-100
Author(s):  
Andrea Surányi ◽  
Zoltán Maróti ◽  
Gyula Tálosi ◽  
Tibor Kalmár ◽  
László Kaiser ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Charge Syndrome ◽  
Preaxial Polydactyly ◽  
Chd7 Gene

CHD7 gene and non-syndromic cleft lip and palate

2006 ◽  
Vol 140A (19) ◽  
pp. 2110-2114 ◽  
Author(s):  
Têmis M. Félix ◽  
Benjamin C. Hanshaw ◽  
Robert Mueller ◽  
Pierre Bitoun ◽  
Jeffrey C. Murray
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chd7 Gene

Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

Gene ◽  
2013 ◽  
Vol 517 (2) ◽  
pp. 164-168 ◽  
Author(s):  
Hyun-Ju Cho ◽  
Mee Hyun Song ◽  
Soo-Young Choi ◽  
Jeongho Kim ◽  
Jinwook Lee ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Charge Syndrome ◽  
Korean Patients ◽  
Chd7 Gene

scholarly journals CHD7 Gene Polymorphisms and Familial Idiopathic Scoliosis

Spine ◽  
2013 ◽  
Vol 38 (22) ◽  
pp. E1432-E1436 ◽  
Author(s):  
Mera K. Tilley ◽  
Cristina M. Justice ◽  
Kandice Swindle ◽  
Beth Marosy ◽  
Alexander F. Wilson ◽  
...  
Keyword(s):  
Idiopathic Scoliosis ◽  
Gene Polymorphisms ◽  
Chd7 Gene

scholarly journals CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Elisa Pisaneschi ◽  
Pietro Sirleto ◽  
Francesca Romana Lepri ◽  
Silvia Genovese ◽  
Maria Lisa Dentici ◽  
...  
Keyword(s):  
Charge Syndrome ◽  
Start Codon ◽  
Gene Start ◽  
Chd7 Gene

scholarly journals CHD7 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Scoliosis

2007 ◽  
Vol 80 (5) ◽  
pp. 957-965 ◽  
Author(s):  
Xiaochong Gao ◽  
Derek Gordon ◽  
Dongping Zhang ◽  
Richard Browne ◽  
Cynthia Helms ◽  
...  
Keyword(s):  
Idiopathic Scoliosis ◽  
Gene Polymorphisms ◽  
Chd7 Gene
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