Results 71 to 80 of about 4,063 (129)

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene. [PDF]

Yonsei Med J, 2018
Choi JY, Kim SE, Lee SE, Kim SC.
europepmc   +1 more source

Olmsted Syndrome in a 12-year-old Filipino Male: A Case Report and Future Directions. [PDF]

Acta Med Philipp
Pandapatan AT, Tan CJ, Tan JAS.
europepmc   +1 more source

Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome.

JAMA Dermatol, 2020
Zhang A, Duchatelet S, Lakdawala N, Tower RL, Diamond C, Marathe K, Hill I, Richard G, Diab Y, Kirkorian AY, Watanabe F, Siegel DH, Hovnanian A.   +12 more
europepmc   +1 more source

Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.

JAMA Dermatol, 2020
Greco C, Leclerc-Mercier S, Chaumon S, Doz F, Hadj-Rabia S, Molina T, Boucheix C, Bodemer C.   +7 more
europepmc   +1 more source

Response to Khoodoruth et al., "Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of Olmsted syndrome". [PDF]

JAAD Case Rep
Frantz T, Kirwin D, Crotty A, Lyford W.
europepmc   +1 more source

A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. [PDF]

Sci Rep, 2016
Ni C, Yan M, Zhang J, Cheng R, Liang J, Deng D, Wang Z, Li M, Yao Z.   +8 more
europepmc   +1 more source

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. [PDF]

Am J Hum Genet, 2012
Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y.   +20 more
europepmc   +1 more source

Infant, maternal and pregnancy associated risk factors for offspring fractures during infancy - A population-based study. [PDF]

Child Abuse Negl
Derauf C, Rao R, King K, Hentz R, Potter DD, Katz AR, Melville J.   +6 more
europepmc   +1 more source

Circulating T follicular helper cells as emerging biomarkers in pediatric Evans syndrome. [PDF]

Haematologica
Kim TO, Semple JW.
europepmc   +1 more source

Elevated Endogenous Insulin and Insulin Resistance Are Associated With Progressive Diastolic Dysfunction and Worse Cardiovascular Outcomes. [PDF]

Circ Heart Fail
Adel FW, Gochanour B, Scott C, Singh J, Malsawmzuali JC, Ma X, Chen HH.   +6 more
europepmc   +1 more source