Results 81 to 90 of about 9,190 (179)

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome

Frontiers in Genetics
BackgroundCornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder involving multi-system organs, causing physical and mental congenital malformation.
Xiao Ting Shao, Yu Xuan Dai, Yu Fang Zhao, Yu Hang Chen, Ling Jing Ying   +4 more
doaj   +1 more source

Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus

Frontiers in Genetics
BackgroundThe L1CAM gene encodes an axonal glycoprotein belonging to the immunoglobulin supergene family that plays a crucial role in nervous system development.
Shijie Zhou, Shijie Zhou, Hao Zhang, Hao Zhang, Xue Li, Xue Li, Quan Chen, Quan Chen, Zhihong Xu, Zhihong Xu   +9 more
doaj   +1 more source

Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy

Frontiers in Pediatrics
BackgroundCongenital disorders of glycosylation (CDG) are a group of multi-systemic genetic disorders. Over 100 monogenic human diseases were known related with defects in glycosylation process. Defects of SSR4 gene lead to a rare X linked pattern of CDG
Ning Li, Chen Chen
doaj   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

Coordinated alternative splicing decisions via stepwise exon definition. [PDF]

Nucleic Acids Res
Kristofori P, Xiao Z, Braun S, Busch A, Zarnack K, König J, Legewie S, Li C.   +7 more
europepmc   +1 more source

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome. [PDF]

J Pathol
Shi T, Huang Y, Su X, Yu L, Zhao Y, Cheng J.   +5 more
europepmc   +1 more source

Functional and structural characterization of <i>POR</i> splicing variants reveals pathogenic mechanisms in PORD. [PDF]

Front Endocrinol (Lausanne)
Zhang XJ, Zhou FY, Xu XW, Wang C, Qian Y, Gong CY, Sheng WC, Shu JB, Cai CQ, Zhang MY.   +9 more
europepmc   +1 more source

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome. [PDF]

BMC Med Genomics
Sun L, Shu D, He W, Ma R, Tao H, Yang Z, Li Y, Liu Z, Zhang Y, Zhao Y.   +9 more
europepmc   +1 more source

A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay. [PDF]

Sci Rep
Zhao J, Feng J.
europepmc   +1 more source

Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4. [PDF]

Nat Commun
Capponi S, Ehret S, Camgöz Z, Gather F, Vaine CA, Özyerli-Göknar E, Follo M, Bragg DC, Vogel T, Timmers HTM.   +9 more
europepmc   +1 more source