Results 131 to 140 of about 14,972 (184)

Paediatric Retinal Detachment in a Patient With Coexistent Stickler and Noonan Syndromes: The Importance of a Multidisciplinary Approach. [PDF]

Cureus
Bakr Y, Helmy Y, Qin C, Kalogeropoulos D, Latasiewicz M.   +4 more
europepmc   +1 more source

EGFR activation disrupts immunotherapy response via SHP2-mediated suppression of tumor-intrinsic response to IFN-γ. [PDF]

J Clin Invest
Zhuang WT, Pang LL, Hu LY, Liao J, Zhan JH, Li T, Chen RX, Zheng JN, Li AL, Yu WY, Mao TQ, Chen L, Huang YJ, Hong SD, Li J, Wu JH, Zeng YM, Yang MJ, Zeng HQ, Zhang YX, Zhang L, Fang WF.   +21 more
europepmc   +1 more source

[Myelodysplastic neoplasms with acute myeloid leukemia-like mutations: clinical features, molecular profiles, and prognosis]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Bao ZF, Liu LL, Li B, Qin TJ, Xu ZF, Qu SQ, Pan LJ, Gao QY, Jiao M, Jia YJ, Li CW, Sun Q, Wang HJ, Xiao ZJ.   +13 more
europepmc   +1 more source

Exploring the mechanism of action of glaucocalyxin D against acute myeloid leukemia using network pharmacology, molecular docking and cellular experiments. [PDF]

Oncol Lett
Chen L, Yang W, Zhang W, Luo H, Yan C.
europepmc   +1 more source

Novel use of placental growth hormone in managing intrauterine growth restriction in Noonan syndrome. [PDF]

Ann Med Surg (Lond)
Akhtar I, Tahir M, Khalid M, Amin MHJ.
europepmc   +1 more source

Unveiling the Genetic Mosaic of Pediatric AML: Insights from Southwest China. [PDF]

Curr Oncol
Huang L, Peng X, Shu W, Shi H, Xiao L, Liu T, Xiang Y, Guo Y, Guan X, Li J, Yu J.   +10 more
europepmc   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System. [PDF]

Mol Genet Genomic Med
Carstens N, Mudau M, Essop F, Krause A.
europepmc   +1 more source

Lycorine hydrochloride inhibits cholangiocarcinoma through cholesterol biosynthesis and PTPN11 nuclear translocation. [PDF]

Cell Commun Signal
Zhao F, Peng S, Zou L, Zhong M, Huang Y, Wang P, Ji M, Ma X, Li F.   +8 more
europepmc   +1 more source

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

A Novel PTPN11 mutation in LEOPARD syndrome [PDF]

Human Mutation, 2003
PTPN11 gene mutations are common to both patients with Noonan (NS) and LEOPARD syndrome (LS). So far only two recurrent mutations have been identified in LS patients by different research groups, i.e., Tyr279Cys and Thr468Met. In this work we describe the third PTPN11 mutation that has been found in a single LS patient.
E, Conti, T, Dottorini, A, Sarkozy, G E, Tiller, G, Esposito, A, Pizzuti, B, Dallapiccola   +6 more
exaly   +3 more sources