Results 221 to 230 of about 5,512,004 (328)

Medical genetics in India [PDF]

The Indian Journal of Pediatrics, 1986
openaire   +3 more sources

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

Molecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts, Senada Koljenović, Elise Daems, Karolien De Wael, Marc Peeters, Léon C. van Kempen, Greetje Vanhoutte, Karen Zwaenepoel, Timon Vandamme   +8 more
wiley   +1 more source

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study. [PDF]

Genome Med
El Chehadeh S, Heide S, Quélin C, Rio M, Margot H, Geneviève D, Isidor B, Goldenberg A, Guégan C, Lesca G, Willems M, Ormières C, Caumes R, Busa T, Bonneau D, Guerrot AM, Marey I, Vera G, Marzin P, Philippe A, Garde A, Coubes C, Vincent M, Michaud V, Mignot C, Charles P, Sigaudy S, Edery P, Lacombe D, Boland A, Nowak F, Bouctot M, Humbert-Asensio ML, Simon A, Chennen K, Sabour N, Delmas C, Nicolas G, Saugier-Veber P, Lecoquierre F, Cassinari K, Keren B, Courtin T, De Sainte Agathe JM, Malan V, Barcia G, Tran Mau-Them F, Safraou H, Philippe C, Thévenon J, Chatron N, Januel L, Piton A, Haushalter V, Gérard B, Lejeune C, Faivre L, Sanlaville D, Héron D, Odent S, Nitschké P, Schluth-Bolard C, Lyonnet S, Deleuze JF, Binquet C, Dollfus H, DEFIDIAG study group.   +66 more
europepmc   +1 more source

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2019
Joshua L. Deignan, W. Chung, H. Kearney, K. Monaghan, C. Rehder, E. Chao   +5 more
semanticscholar   +1 more source

Adenosine‐to‐inosine editing of miR‐200b‐3p is associated with the progression of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira, Anna Skwarska, Karolina Chwialkowska, Agnieszka Ostrowska, Gabriela Sokolowska, Anna Zeller, Anna Erol, Andrzej Eljaszewicz, Bartosz Hanczaruk, Anna Michalska‐Falkowska, Agnieszka Tarasik, Joanna Reszec‐Gielazyn, Pawel Knapp, Marcin Moniuszko, Adam Kretowski   +14 more
wiley   +1 more source

Community genetics in Brazil- a 2025 perspective. [PDF]

J Community Genet
Giugliani R, Dain Gandelman Horovitz D.
europepmc   +1 more source

Hypomethylating agents increase L1 retroelement expression without inducing novel insertions in myeloid malignancies

Molecular Oncology, EarlyView.
We investigated whether hypomethylating agents (HMAs) used in myeloid malignancies induce somatic retrotransposition. Our findings indicate that HMA treatment increases L1‐encoded protein expression but does not lead to detectable de novo retrotransposition events in either patient samples or cell lines.
Šárka Pavlová, Hana Svozilová, Marcela Krzyžánková, Radim Sonnek, Anastasiya Volakhava, Anastasia Smirnova, Tatiana Grigoreva, Zuzana Jašková, Hana Synáčková, Dennis Wahl, Michaela Bilčíková, Libor Červinek, Šárka Pospíšilová, Ilgar Mamedov, Karla Plevová   +14 more
wiley   +1 more source

Corrigendum to "Advances in sciatic nerve regeneration: A review of contemporary techniques" [Regen Ther, Volume 29C, (June 2025), 563-574]. [PDF]

Regen Ther
Ali S, Sun M, Khan MN, Qiang F.
europepmc   +1 more source

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2018
R. Hershberger, M. Givertz, Carolyn Y. Ho, D. Judge, P. Kantor, K. McBride, A. Morales, Matthew R. G. Taylor, M. Vatta, S. Ware, on behalf of the Acmg Laboratory Quality Assurance Committee   +10 more
semanticscholar   +1 more source

YAP1::TFE3 mediates endothelial‐to‐mesenchymal plasticity in epithelioid hemangioendothelioma

Molecular Oncology, EarlyView.
The YAP1::TFE3 fusion protein drives endothelial‐to‐mesenchymal transition (EndMT) plasticity, resulting in the loss of endothelial characteristics and gain of mesenchymal‐like properties, including resistance to anoikis, increased migratory capacity, and loss of contact growth inhibition in endothelial cells.
Ant Murphy, Samuel Hartzler, Paula A. Vargas Carranza, Shyaman Jayasundara, Madison E. Yates, Nimod D. Janson, Bozhi Liu, Annaleigh Benton, Majid Kazemian, Jason A. Hanna   +9 more
wiley   +1 more source