Results 151 to 160 of about 1,273,440 (291)

Medical genetics [PDF]

BMJ, 1977
openaire   +2 more sources

ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics. [PDF]

Genet Med Open
Dulchavsky M, Keegan CE, Robin NH, Haldeman-Englert C, Dhar SU, Hisama FM.   +5 more
europepmc   +1 more source

Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open, 2023
Scott AI, Mallhi KK, Ganesh J, Chen WL, ACMG Therapeutics Committee8∗documents@acmg.net.   +4 more
europepmc   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

A systematic review on the generative AI applications in human medical genetics. [PDF]

Front Genet
Changalidis A, Barbitoff Y, Nasykhova Y, Glotov A.   +3 more
europepmc   +1 more source

Array genotyping as diagnostic approach in medical genetics. [PDF]

Mol Genet Genomic Med, 2022
Witsch-Baumgartner M, Schwaninger G, Schnaiter S, Kollmann F, Burkhard S, Gröbner R, Mühlegger B, Schamschula E, Kirchmeier P, Zschocke J.   +9 more
europepmc   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Medical genetics needs assessment: An online cross-sectional survey from Nepal. [PDF]

Genet Med Open
Gyawali P, Shrestha B, Beharry K, Agarwal G, Quinonez SC.   +4 more
europepmc   +1 more source

Colorectal cancer‐derived FGF19 is a metabolically active serum biomarker that exerts enteroendocrine effects on mouse liver

Molecular Oncology, EarlyView.
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley, Michael W. Rohr, Joseph A. Goode, Sai Preethi Nakkina, Jignesh G. Parikh, Deborah A. Altomare   +5 more
wiley   +1 more source

European training requirements for the specialty of medical genetics. [PDF]

Eur J Hum Genet
Moog U, Berg J, Kerr S, Turnpenny PD, Verloes A, Working Group ETR for Medical Genetics, Zschocke J.   +6 more
europepmc   +1 more source