Results 111 to 120 of about 537,790 (185)

Molecular characterization of a deep intronic TBX5 variant in a familial case of Holt-Oram syndrome

Background Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by congenital heart defects and upper-limb malformations, most commonly caused by pathogenic variants in TBX5 .
Tatiana Markova, Mikhail Skoblov, Daria Akimova, Vladimir Kenis, Oхana Ryzhkova, Igor Andreev, Peter Sparber   +6 more
core   +1 more source

Identification and Targeted Correction of a Pathogenic <i>PMP22</i> Deep Intronic Variant. [PDF]

Int J Mol Sci
Chausova P, Murtazina A, Bychkov I, Anisimova I, Ilyushkina A, Mollaeva K, Magomedova A, Tabakov V, Hegay T, Chukhrova A, Polyakov A.   +10 more
europepmc   +1 more source

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia. [PDF]

Clin Genet
Stojanovic D, Garczarczyk-Asim D, Vodopiutz J, Janecke AR.   +3 more
europepmc   +1 more source

Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1

Currarino syndrome (CS) is an autosomal dominant multiple congenital anomalies syndrome characterised by a triad of anorectal malformations, presacral masses, and sacral defects.
Em C. Jameson, Zandra A. Jenkins, David Markie, Stephen P. Robertson, Benjamin J. Halliday, Kate Gibson, Candice Feben   +6 more
core   +1 more source

CRISPR-Cas12a for Birt-Hogg-Dubé syndrome: a promising diagnostic tool for deep intronic variant detection. [PDF]

Ann Med Surg (Lond)
Imran SB.
europepmc   +1 more source

Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome

Background Marfan syndrome (MFS) is an autosomal dominant connective tissue disease with wide clinical heterogeneity, and mainly caused by pathogenic variants in fibrillin-1 (FBN1).
Xin Tu, Jing Wu, Xiangdong Kong, Chenguang Yu, Ying Bai, Li Wang, Yue Sun, Yanjie Xia, Yong Gao   +8 more
core   +1 more source

A <i>CHD7</i> intronic variant induces aberrant splicing and structural alterations in the CHD7 DNA-binding domain to cause CHARGE syndrome. [PDF]

Am J Transl Res
Fei Y, Hu D, Liu L, Tian X, Chai J, Wu L, Li A, Zhang Q, Li D.   +8 more
europepmc   +1 more source

Expanding the Genomic Spectrum of <i>NHLRC2</i>-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon. [PDF]

Int J Mol Sci
Rozhkova AV, Esibov AA, Borkovskaia AN, Rutkovskaya EA, Groznova OS, Sagaydak OV, Doroshchuk NA, Krupinova JA, Mityaeva ON, Woroncow M, Bogdanov VP, Volchkov PY.   +11 more
europepmc   +1 more source

An intronic variant in Ferredoxin Reductase (FDXR) creates a cryptic exon in Quarter Horses with Equine Juvenile Spinocerebellar Ataxia. [PDF]

PLoS Genet
Brown BN, Dahlgren AR, Ghosh S, Durbin-Johnson B, Willis A, Olivas C, York D, Grahn R, Bellone RR, Cortopassi GA, Miller AD, Brown CT, Woolard K, Finno CJ.   +13 more
europepmc   +1 more source

Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A. [PDF]

Blood Adv, 2023
Hiramoto T, Inaba H, Baatartsogt N, Kashiwakura Y, Hayakawa M, Kamoshita N, Nishimasu H, Nureki O, Kinai E, Ohmori T.   +9 more
europepmc   +1 more source