Results 201 to 210 of about 591,252 (334)

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice. [PDF]

Clin Genet
Innella G, Coccia E, Cristalli CP, Zacchi E, Calabrese S, Bacchi I, Palombo F, Taormina S, Evangelisti C, Lanzoni G, Carelli V, Diquigiovanni C, Ferrari S, Panza E, Rossi C, Vaisfeld A, Bonora E, Turchetti D.   +17 more
europepmc   +1 more source

[Referral criteria to clinical genetics from primary care: Consensus document]. [PDF]

Aten Primaria, 2022
Ejarque Doménech I, Marín Reina P, García-Miñaur Rica S, Chirivella González I, Martínez Martínez MT, García Rodríguez AM, Álvarez de Andrés S, Tellería Orriols JJ.   +7 more
europepmc   +1 more source

A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics [PDF]

, 2001
David Wonderling, Penelope Hopwood, A. Cull, Fiona Douglas, Maggie Watson, John Burn, Klim McPherson   +6 more
openalex   +1 more source

Thermal proteome profiling and proteome analysis using high‐definition mass spectrometry demonstrate modulation of cholesterol biosynthesis by next‐generation galeterone analog VNPP433‐3β in castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
Elevated level of cholesterol is positively correlated to prostate cancer development and disease severity. Cholesterol‐lowering drugs, such as statins, are demonstrated to inhibit prostate cancer. VNPP433‐3β interrupts multiple signaling and metabolic pathways, including cholesterol biosynthesis, AR‐mediated transcription of several oncogenes, mRNA 5′
Retheesh S. Thankan, Elizabeth Thomas, Mehari M. Weldemariam, Puranik Purushottamachar, Weiliang Huang, Maureen A. Kane, Yuji Zhang, Nicholas Ambulos, Bi‐Dar Wang, David Weber, Vincent C. O. Njar   +10 more
wiley   +1 more source

Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners. [PDF]

J Med Genet, 2023
Kay AC, Wells J, Hallowell N, Goriely A.
europepmc   +1 more source

A comprehensive leukemia database: integration of cytogenetics, molecular genetics and microarray data with clinical information, cytomorphology and immunophenotyping [PDF]

, 2001
Martin Dugas, Claudia Schoch, Susanne Schnittger, Torsten Haferlach, S. Danhauser-Riedl, Wolfgang Hiddemann, D. Messerer, K. Überla   +7 more
openalex   +1 more source

Elucidating prognostic significance of purine metabolism in colorectal cancer through integrating data from transcriptomic, immunohistochemical, and single‐cell RNA sequencing analysis

Molecular Oncology, EarlyView.
Low expression of five purine metabolism‐related genes (ADSL, APRT, ADCY3, NME3, NME6) was correlated with poor survival in colorectal cancer. Immunohistochemistry analysis showed that low NME3 (early stage) and low ADSL/NME6 (late stage) levels were associated with high risk.
Sungyeon Kim, Myunghee Kang, Soyeon Jeong, Jisup Kim, Kyoung Oh Kim, Won‐Suk Lee, Jeong‐Heum Baek, Jung Ho Kim, Seungyoon Nam   +8 more
wiley   +1 more source

A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia. [PDF]

Transl Pediatr
Ueda M.
europepmc   +1 more source

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD). [PDF]

Int J Mol Sci, 2021
Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R.   +9 more
europepmc   +1 more source

Molecular Genetics of Neuroblastoma and the Implications for Clinical Management: A Review of the MSKCC Experience [PDF]

, 2001
Jaume Mora, William L. Gerald, Jing Qin, Nai‐Kong V. Cheung   +3 more
openalex   +1 more source