Results 251 to 260 of about 183,311 (355)

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Novel Genetic Insights into Lateral Temporal Lobe Epilepsy: Findings from Whole Exome Sequencing. [PDF]

Noro Psikiyatr Ars
Salman B, Kesim Y, Şirin NG, Süsgün S, Uzun GA, İşeri SU, Bebek N, Baykan B.   +7 more
europepmc   +1 more source

Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing

, 2020
Ying Peng, Jinxin Miao, Yafei Zhai, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
openalex   +1 more source

The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency. [PDF]

Mol Genet Genomic Med
Wang H, Luo C, Geng Q, Xu X, Liu Y.
europepmc   +1 more source

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

, 2017
Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, John Landers, Richard Mills, Ivan Goldberg, Paul R. Healey, Stuart L. Graham, Alex W. Hewitt, David A. Mackey, Anna Galanopoulos, Robert J. Casson, Jonathan B. Ruddle, Jonathan Ellis, Paul Leo, Matthew A. Brown, Stuart MacGregor, David J. Lynn, Kathryn P. Burdon, Jamie E. Craig   +19 more
openalex   +2 more sources

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Identification of novel genomic variants in diabetic nephropathy patients using whole-exome sequencing: a pilot investigation. [PDF]

Front Endocrinol (Lausanne)
Mir R, Elfaki I, Almassabi RF, Almowallad S, Elnageeb ME, Mirghani HO, Albalawi W, Albalawi AD, Altemani FH, Barnawi J, Tayeb FJ, Moawadh M, Bedaiwi RI, Alanazi MA.   +13 more
europepmc   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients. [PDF]

PLoS One
Dev P, Blackwell JM, Kumar R, Mishra V, Pathak A.   +4 more
europepmc   +1 more source