Results 221 to 230 of about 123,315 (302)

An Unexpected Finding of a PTPN11 Germline Mutation in a Patient With a Melanocytic Lesion With a Somatic MAP2K1 Mutation. Coincidence or Not? [PDF]

J Cutan Pathol
van der Woude S, Klein Wassink-Ruiter JS, Kluiver J, de Jonge M, Diercks GFH.   +4 more
europepmc   +1 more source

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +1 more source

Multiple drug resistance caused by germline mutation of exon 27 of BRCA2 gene in triple-negative breast cancer: a case report and literature review. [PDF]

Front Oncol
Li Y, Xu G, Zhang L, Zhao K, Zhao Y, Han D.   +5 more
europepmc   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes. [PDF]

Intern Med
Watanabe H, Takahashi Y, Namiki T, Nakagawa R, Inui T, Ishikawa H, Wakamatsu M, Muramatsu H, Sakamoto T.   +8 more
europepmc   +1 more source

Five Advances in the Last 50 Years That Have Impacted Endocrine Surgery

World Journal of Surgery, EarlyView.
Matilda Anneback, Priya H. Dedhia, Aimee Di Marco, Els Nieveen van Dijkum, Julie A. Miller, Janice L. Pasieka   +5 more
wiley   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Pancreatic Cancer—Advances in the Last 50 Years

World Journal of Surgery, EarlyView.
S. George Barreto, Anirban Maitra, Eileen M. O'Reilly, Dushyant Sahani, Richard Zheng, Charles J. Yeo   +5 more
wiley   +1 more source

Megakaryocyte centrosomal and Golgi structural perturbations in patients with primary myelofibrosis and with <i>RUNX1</i> germline mutation. [PDF]

Leuk Lymphoma
Obiorah IE, Kundu D, Adekunle F, Pramoonjago P, Calvo KR, Liu P, Goldfarb A.   +6 more
europepmc   +1 more source