Results 171 to 180 of about 241,061 (333)

High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families [PDF]

, 1998
Toyomasa Katagiri, Fujio Kasumi, Masataka Yoshimoto, Tadashi Nomizu, Kazuaki Asaishi, Rikiya Abe, Atsuo Tsuchiya, Masahiko Sugano, Shin‐ichiro Takai, Mitsusato Yoneda, Takashi Fukutomi, Kiyoshi Nanba, Masujiro Makita, Hiroshi Okazaki, Kouichi Hirata, M. Okazaki, Yoshikazu Furutsuma, Yasuo Morishita, Y Iino, Takayuki Karino, Hiroyoshi Ayabe, Shinsuke Hara, Tetsuro Kajiwara, Syunsuke Houga, Tadao Shimizu, Masakazu Toda, Y Yamazaki, Takashi Uchida, Kazufumi Kunitomo, Hiroshi Sonoo, Junichi Kurebayashi, Koujiro Shimotsuma, Yusuke Nakamura, Yoshio Miki   +33 more
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj  

Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX

, 1993
P. M. Green, V. E. Mitchell, Adam P. McGraw, E. Goldman, F. Giannelli   +4 more
openalex   +1 more source

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia [PDF]

, 1998
Hideaki Sawai, Akinori Ida, Yuko Nakata, Kazuo Koyama   +3 more
openalex   +1 more source

Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study

Epilepsia Open, EarlyView.
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao   +9 more
wiley   +1 more source

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

, 1992
Bernd Schäfer, R W BISHOP, V.J. Kratunis, Stephen Kalinowski, Stephen T. Mosley, K. Michael Gibson, Ryouichi Tanaka   +6 more
openalex   +1 more source

Detection of PTEN Mutations in Fine Needle Aspiration Biopsies of Indeterminate Thyroid Nodules: Impact on Diagnosis and Prognosis

Head &Neck, EarlyView.
ABSTRACT Background Data connecting PTEN mutations with thyroid cancer risk for indeterminate nodules remain limited due to the rare nature of these mutations. The aim of this study was to determine the relationship between PTEN mutations identified in cytologically indeterminate nodules and final pathology and clinical outcomes.
Lauren E. Schlegel, Madelaine Brill‐Edwards, Zi‐Xuan Wang, Christopher McNair, Stacey Gargano, Elizabeth Cottrill   +5 more
wiley   +1 more source

Missense Mutation in the Alternative Splice Region of the PAX6 Gene in Eye Anomalies [PDF]

, 1999
Noriyuki Azuma, Yuki Yamaguchi, Hiroshi Handa, Mutsuko Hayakawa, Atsushi Kanai, Masao Yamada   +5 more
openalex   +1 more source

A de novo missense mutation of human cardiac Na⁺ channel exhibiting novel molecular mechanisms of long QT syndrome [PDF]

, 1998
Naomasa Makita, Nobumasa Shirai, Masato Nagashima, Rumiko Matsuoka, Yoichi Yamada, Noritsugu Tohse, Akira Kitabatake   +6 more
openalex   +1 more source