Results 151 to 160 of about 13,098 (176)

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. [PDF]

Am J Hum Genet
Richardson ME, Bishop MFH, Holdren MA, de la Hoya M, Spurdle AB, Tavtigian SV, Brannan T, Young CC, Zec L, Hiraki S, Turnbull C, Tischkowitz M, Bernstein KA, Masson JY, McNulty SM, Pesaran T, Monteiro AN, Walker LC, Foulkes WD, Couch FJ.   +19 more
europepmc   +1 more source

Effects of Bone Morphogenetic Protein-7 on Steroid-Induced Extracellular Matrix Accumulation in Human Trabecular Meshwork Cells. [PDF]

FASEB Bioadv
Kim EW, Choi JO, Chae MK, Lee JS, Lee CH, Um JE, Kim NH, Kim J, Choi W, Kim CY.   +9 more
europepmc   +1 more source

The Nutritional Gene Expression Regulation Potential of a Lysolecithin-Based Product. [PDF]

Curr Issues Mol Biol
Van Hoeck V, Spaepen R, Forier B.
europepmc   +1 more source

Genomic insights into Rett syndrome-like features in Bangladeshi participants. [PDF]

Genet Med Open
Akter H, Rahman MM, Mim RA, Rahaman A, Eshaque TB, Hossain SA, Ganguly A, Omar FB, Taniya MA, Hasan N, Islam A, Jamalalail B, Nassir N, Zehra B, Sarker S, Uddin KMF, Nabi AHMN, Woodbury-Smith M, Uddin M.   +18 more
europepmc   +1 more source

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Ngeow J, Chiang J, Astiazaran-Symonds E, Balmaña J, Cass I, Kommoss FKF, Foulkes WD, James PA, Katcher A, Klugman S, Livinski AA, Mak JS, Voian N, Wick MJ, Tischkowitz M, Pal T, Stewart DR, Hanson H, ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net.   +18 more
europepmc   +1 more source

Putative role of TMEM165 in congenital cardiomyopathies. [PDF]

Front Mol Neurosci
Gonçalves PP.
europepmc   +1 more source

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft. [PDF]

Hum Mutat
Ranji P, Pairet E, Helaers R, Brouillard P, Bayet B, Gerdom A, Revencu N, Vikkula M.   +7 more
europepmc   +1 more source

Peroxisome Proliferator-Activated Receptors (PPARs) May Mediate the Neuroactive Effects of Probiotic Metabolites: An In Silico Approach. [PDF]

Int J Mol Sci
Parra I, Carrasco-Carballo A, Palafox-Sanchez V, Martínez-García I, Aguilera J, Góngora-Alfaro JL, Aranda-González II, Tizabi Y, Mendieta L.   +8 more
europepmc   +1 more source

Heparin CX-01 promotes adipogenesis and counteracts liposarcoma dedifferentiation

Lanzi C, Favini E, Bo LD, Tortoreto M, Percio S, Zuco V, Dagrada GP, Brich S, Collini P, Cecco L, Callegaro D, Sanfilippo R, Gronchi A, Zaffaroni N, Pasquali S, Cassinelli G.   +15 more
europepmc   +1 more source

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels. [PDF]

Genet Med Open
Wilcox EH, Webb RF, Tshering KC, Hughes MY, Cavé H, DiStefano MT, Dziadzio H, Garber K, Gelb BD, Gripp KW, Ichikawa S, Lee JA, McCurry H, Tartaglia M, Williams B, Zenker M, Vincent LM, Mason-Suares H, ClinGen RASopathy Expert Panel.   +18 more
europepmc   +1 more source