Results 241 to 250 of about 10,250,216 (364)

Medical care in clinical genetics: an experience of decentralization in southern Brazil. [PDF]

Einstein (Sao Paulo), 2021
Meneghini KFD, Karam SM, Madruga VFP, Ungaretti ASS, Pinguello EC, Severo R.   +5 more
europepmc   +1 more source

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

Current pediatric reviews, 2016
M. Butler, A. Manzardo, J. Forster
semanticscholar   +1 more source

In vitro models of cancer‐associated fibroblast heterogeneity uncover subtype‐specific effects of CRISPR perturbations

Molecular Oncology, EarlyView.
Development of therapies targeting cancer‐associated fibroblasts (CAFs) necessitates preclinical model systems that faithfully represent CAF–tumor biology. We established an in vitro coculture system of patient‐derived pancreatic CAFs and tumor cell lines and demonstrated its recapitulation of primary CAF–tumor biology with single‐cell transcriptomics ...
Elysia Saputra, Shamsudheen Karuthedath Vellarikkal, Lixia Li, Hong Sun, Khoa Nguyen, Amber Montano, Suchitra Natarajan, Federica Piccioni, Alex Michael Tamburino, Xin Yu, Aleksandra Katarzyna Olow   +10 more
wiley   +1 more source

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

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

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) [PDF]

, 2019
Priya S. Kishnani, Jennifer Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El‐Gharbawy, Laurie M. Brown, Stephen G. Kahler, Surekha Pendyal, Katalin M. Ross, Laurie A. Tsilianidis, David A. Weinstein, Michael S. Watson   +14 more
openalex   +1 more source

Effect of chemotherapy on passenger mutations in metastatic colorectal cancer

Molecular Oncology, EarlyView.
Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees   +6 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

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

Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics [PDF]

, 2017
ACMG Board of Directors
openalex   +1 more source