Results 191 to 200 of about 591,252 (334)

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics [PDF]

, 2001
Anne Maddalena, Carolyn Sue Richards, Matthew J. McGinniss, Arthur R. Brothman, Robert J. Desnick, Robert E. Grier, Betsy Hirsch, Peter B. Jacky, Geraldine A. McDowell, Bradley W. Popovich, Michael S. Watson, Daynna J. Wolff   +11 more
openalex   +1 more source

Plasma lipidomic and metabolomic profiles in high‐grade glioma patients before and after 72‐h presurgery water‐only fasting

Molecular Oncology, EarlyView.
Presurgery 72‐h fasting in GB patients leads to adaptations of plasma lipids and polar metabolites. Fasting reduces lysophosphatidylcholines and increases free fatty acids, shifts triglycerides toward long‐chain TGs and increases branched‐chain amino acids, alpha aminobutyric acid, and uric acid.
Iris Divé, Lisa Hahnefeld, Katharina J. Wenger, Donat Kögel, Joachim Steinbach, Gerd Geisslinger, Michael W. Ronellenfitsch, Irmgard Tegeder   +7 more
wiley   +1 more source

Patient care practices for LGBTQ+ individuals in clinical genetics: A scoping review. [PDF]

J Genet Couns
Zayhowski K, Horowitz K, Bostrom M, Mittendorf KF, Kocher M, Austin JJ, MacFarlane IM.   +6 more
europepmc   +1 more source

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8. [PDF]

Genes (Basel), 2023
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, Zollino M.   +10 more
europepmc   +1 more source

Clinical signs, histopathology and genetics of experimental transmission of BSE and natural scrapie to sheep and goats [PDF]

, 2001
James D. Foster, David Parnham, A. Chong, Wilfred Goldmann, Nora Hunter   +4 more
openalex   +1 more source

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

Molecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak, Żaneta Zarębska, Marcin P. Sajek, Adriana Grabowska, Alessia Buratin, Paweł Głodowicz, Julia O. Misiorek, Konrad Kuczyński, Stefania Bortoluzzi, Marek Żywicki, Jan G. Kosiński, Agnieszka Rybak‐Wolf, Rafał Piestrzeniewicz, Anna M. Barciszewska, Katarzyna Rolle   +14 more
wiley   +1 more source

Understanding the clinical genetics of kidney stone disease using the Natera Renasight panel. [PDF]

Urolithiasis
Baca AL, Patel RD, Labagnara K, Green B, Zhu M, Gupta K, Edelblute B, Asencio AA, Sharma D, Chen W, Raskolnikov D, Donnelly J, Watts KL, Small AC.   +13 more
europepmc   +1 more source

A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service. [PDF]

Eur J Hum Genet, 2022
Firth C, Tripathi V, Kowalski Bellamy A, Somers N, Roos C, Tomlinson C.   +5 more
europepmc   +1 more source

Neuroblastoma tumour genetics: clinical and biological aspects [PDF]

, 2001
Nick Bown
openalex   +1 more source

Targeting the MDM2‐MDM4 interaction interface reveals an otherwise therapeutically active wild‐type p53 in colorectal cancer

Molecular Oncology, EarlyView.
This study investigates an alternative approach to reactivating the oncosuppressor p53 in cancer. A short peptide targeting the association of the two p53 inhibitors, MDM2 and MDM4, induces an otherwise therapeutically active p53 with unique features that promote cell death and potentially reduce toxicity towards proliferating nontumor cells.
Sonia Valentini, Giada Mele, Marika Attili, Maria Rita Assenza, Fulvio Saccoccia, Francesca Sardina, Cinzia Rinaldo, Roberto Massari, Nicola Tirelli, Alfredo Pontecorvi, Fabiola Moretti   +10 more
wiley   +1 more source