Results 241 to 250 of about 1,702,970 (343)

A unique case of late-onset CIPO caused by a missense mutation in the long isoform of <i>FLNA</i>. [PDF]

Front Genet
D'Amato I, Ganguzza E, Basilisco G, Strippoli A, Salvi E, Mehmeti E, Chiappori F, Devigili G, Vecchi M, Lauria G, Marchi M.   +10 more
europepmc   +1 more source

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

Spontaneous ovarian hyperstimulation in a nonpregnant woman with PCOS: a rare case highlighting FMN2 missense mutation and androgen receptor gene deletion. [PDF]

J Ovarian Res
Ota K, Takahashi T, Nitta E, Watanabe K, Isayama K, Morimoto Y, Tsuji K, Matsuyama Y, Matsuyama T, Ota Y, Kanenishi K, Mizukami Y, Shimoya K.   +12 more
europepmc   +1 more source

A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis. [PDF]

Anim Genet
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.   +8 more
europepmc   +1 more source

A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation

Clinical Genetics, 2012
Saadullah Khan, S. Basit, F. K. Zimri, N. Ali, G. Ali, M. Ansar, Wasim Ahmad   +6 more
semanticscholar   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease. [PDF]

Sci Signal
Gauron MC, Prokopenko D, Lee S, Wolfe SA, Hecker J, Willett J, Waqas M, Lordén G, Yang Y, Mayfield JE, Castanho I, Mullin K, Morgan S, Hahn G, Demeo DL, Hide W, Bertram L, Lange C, Newton AC, Tanzi RE.   +19 more
europepmc   +1 more source

Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene. [PDF]

Endocrinol Diabetes Metab Case Rep
Fujii A, Nakabayashi H, Nagao Y, Akiyama M, Taguchi A, Yorimoto K, Hamada R, Saeki I, Yamamoto N, Takami T, Watanabe K, Mizukami Y, Ohta Y.   +12 more
europepmc   +1 more source

A novel missense-mutation-related feature extraction scheme for 'driver' mutation identification

Bioinform., 2012
Hua Tan, Jiguang Bao, Xiaobo Zhou
semanticscholar   +1 more source

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review. [PDF]

Mol Genet Genomic Med
Yang W, Zhou J, Si N, Zhang X.
europepmc   +1 more source