Results 91 to 100 of about 1,575 (156)

Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report. [PDF]

Medicine (Baltimore)
Mou X, Liu Y, Zhang Y, Cheng X, Feng J.
europepmc   +1 more source

Clinical characteristics and etiology-specific outcome in pediatric hypertrophic cardiomyopathy. [PDF]

Clin Res Cardiol
Minette F, Klass M, Meyer N, Merzweiler A, Burkart S, Hempel M, Frey N, Völkers M, Gorenflo M, Kovacevic A, Sandmann C.   +10 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review. [PDF]

Prenat Diagn
Martineau R, Wells C, Fuchs F, Collardeau-Frachon S, Ruault V, Colomb S, Faure JM, Bartholmot C, Vincenti M, Ganne B, Willems M.   +10 more
europepmc   +1 more source

Homozygous Nonsense Variant in the GJA4 Gene Associated With Increased Fetal Nuchal Fold Thickness and Abnormal Fetal Ductus Venosus Termination: A Case Report. [PDF]

Cureus
Chauhan B, Prajapati NA, Sagarkar S, Menon P, Kachhadiya T, Vaniawala S, Vaniawala S, Tamhankar V, Tamhankar PM.   +8 more
europepmc   +1 more source

Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy. [PDF]

Orphanet J Rare Dis
Mirza A, Rossi C, Kulozik A, Banan R, Sahm F, Harrabi S, Syrbe S, Choukair D.   +7 more
europepmc   +1 more source

Rasopathy diagnosis advances [PDF]

American Journal of Medical Genetics Part A, 2012
openaire   +1 more source

Clinical manifestations, genetic profiles, and sudden cardiac arrest in pediatric hypertrophic cardiomyopathy: Challenges of risk prediction for initial sudden cardiac arrest presentations. [PDF]

Heart Rhythm O2
Chiu SN, Jimmy Juang JM, Tseng WC, Lee NC, Lu CW, Lin MT, Chen CA, Wang JK, Chen WP, Wu MH.   +9 more
europepmc   +1 more source

Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies. [PDF]

Genes (Basel)
Dicorato MM, De Sario G, Carella MC, Guaricci AI, Ciccone MM, Forleo C, D'Amato G, Faienza MF.   +7 more
europepmc   +1 more source

Expanding the Genetic Landscape of RASopathies: Significance of Including <i>NF1</i> in Targeted Panels. [PDF]

Mol Syndromol
Kendir-Demirkol Y, Yeter B, Eser M, Yarar MH.   +3 more
europepmc   +1 more source

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines. [PDF]

Hum Mutat
Wang X, Zhang T, Qin Y, Zou Y, Luo H, Li H, Song J.   +6 more
europepmc   +1 more source