Results 151 to 160 of about 6,776,369 (200)

Deep plasma proteomics identifies and validates an eight-protein biomarker panel that separate benign from malignant tumors in ovarian cancer. [PDF]

Commun Med (Lond)
Moskov M, Hedlund Lindberg J, Lycke M, Ivansson E, Gyllensten U, Sundfeldt K, Stålberg K, Enroth S.   +7 more
europepmc   +1 more source

Nucleolar beacon for monitoring nucleolar morphology and proteomics in living cells. [PDF]

Sci Adv
Gao J, Sun W, Chen Y, Liu T, Ge Z, Xu W, Lu Y, Wang W, Ma J, Ge H.   +9 more
europepmc   +1 more source

Advancing Non-Invasive Prenatal Screening: A Targeted 1069-Gene Panel for Comprehensive Detection of Monogenic Disorders and Copy Number Variations. [PDF]

Genes (Basel)
Sirica R, Ottaiano A, D'Amore L, Ianniello M, Petrillo N, Ruggiero R, Castiello R, Mori A, Evangelista E, De Falco L, Santorsola M, Misasi M, Savarese G, Fico A.   +13 more
europepmc   +1 more source

DNA Damage and Repair in Thyroid Physiology and Disease.

Endocr Rev
Arczewska KD, Sys D, Nilsen HL, Piekiełko-Witkowska A.   +3 more
europepmc   +1 more source

Detection of regions of homozygosity in an unusual case of frontonasal dysplasia. [PDF]

Mol Cytogenet
Paz-Y-Miño C, Vargas-Vera RM, Placencia-Ibadango MV, Vargas-Silva KS, García-Hernández JL, Balarezo-Díaz T, Leone PE.   +6 more
europepmc   +1 more source

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A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome

The Cleft Palate Craniofacial Journal, 2022
Objective The purpose of this study is to analyze the clinical characteristics of a Treacher Collins syndrome (TCS) patient carrying a de novo variant of TCOF1, and briefly analyze the correlation between genetic results and clinical features. Also, the
B. Yin, Yuya Pang, Jia‐yu Shi, Yansong Lin, Jia-lin Sun, Q. Zheng, B. Shi, Z. Jia   +7 more
semanticscholar   +3 more sources

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.

International Journal of Pediatric Otorhinolaryngology, 2020
The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result.Genomic DNA from the proband and his parents were extracted from 200 to 400 μl of peripheral blood samples.
Haisheng Zeng, Mingyu Xie, Jianbo Li, Haoqiang Xie, Xiaomei Lu   +4 more
semanticscholar   +3 more sources

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.

Gene, 2004
Treacher Collins syndrome (TCS) is characterized by an abnormality in craniofacial development during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Genetic and proteomic characterizations of TCS/treacle are based on the previously reported 26 exons of TCOF1.
Rolando B. So, B. Gonzales, D. Henning, J. Dixon, M. Dixon, B. Valdez   +5 more
semanticscholar   +3 more sources

Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene

Clinical Genetics, 2012
Su P‐H, Liu Y‐F, Yu J‐S, Chen J‐Y, Chen S‐J, Lai Y‐J. Facial asymmetry and clinical manifestations in patients with novel insertion of theTCOF1gene.This study explored the role ofTCOF1insertion mutations in Taiwanese patients with craniofacial anomalies.
P‐H Su, Y‐F Liu, J‐S Yu, J‐Y Chen, S.-J. Chen,, Y‐J Lai   +5 more
semanticscholar   +3 more sources