Results 241 to 250 of about 178,713 (349)

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

Genomic Insights Into Sepsis Course Using Whole Exome Sequencing

EBioMedicine, 2016
Carlos Flores, Beatriz Guillen-Guio
doaj   +1 more source

Whole-exome sequencing analysis identifies risk genes for schizophrenia. [PDF]

Nat Commun
Chick SL, Holmans P, Cameron D, Grozeva D, Sims R, Williams J, Bray NJ, Owen MJ, O'Donovan MC, Walters JTR, Rees E.   +10 more
europepmc   +1 more source

Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants. [PDF]

J Hum Genet
Watanabe T, Kume K, Inoue K, Nakamura M, Yamamoto S, Kurashige T, Ohshita T, Tazuma T, Kaido M, Maetani Y, Maruyama H, Kawakami H.   +11 more
europepmc   +1 more source

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

, 2017
Masaya Tsuboi, Manabu Watanabe, Kazumi Nibe, Natsuko Yoshimi, Akihisa Kato, Masahiro Sakaguchi, Osamu Yamato, Miyuu Tanaka, Mitsuru Kuwamura, Kazuya KUSHIDA, Takashi Ishikura, Tomoyuki Harada, James Chambers, Sumio Sugano, Kazuyuki Uchida, Hiroyuki Nakayama   +15 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

Whole-Exome Sequencing of Discordant Monozygotic Twins for Congenital Scoliosis: A Family Case Study. [PDF]

Genes (Basel)
Samarkhanova D, Seidualy M, Kairov U, Nadirov N, Zhabagin M.   +4 more
europepmc   +1 more source

The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data [PDF]

Naomi Wilcox, Jonathan P. Tyrer, Joe Dennis, Xin Yang, John R. B. Perry, Eugene J. Gardner, Douglas F. Easton   +6 more
openalex   +1 more source

Whole Exome Sequencing in Monogenic Dyslipidemias.

Whole Exome Sequencing in Monogenic Dyslipidemias.
出版者照会後に全文公開
openaire  

Whole-exome sequencing for clinical diagnostics [PDF]

Nature Reviews Genetics, 2016
openaire   +1 more source