Results 141 to 150 of about 178,919 (265)

​Autosomal Dominant [PDF]

, 2019
openaire   +1 more source

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source

Autosomal Dominant Osteopetrosis - Identification of a New Mutation. [PDF]

Eur J Case Rep Intern Med
Monteiro I, Moutinho-Pereira S, Kornak U, Carneiro L.   +3 more
europepmc   +1 more source

Sex‐Specific Proteomic Profiling Identifies Pregnancy Zone Protein as a Complement‐Linked Marker of Adverse Prognosis in Esophageal Adenocarcinoma

International Journal of Cancer, EarlyView.
ABSTRACT Esophageal adenocarcinoma (EAC) exhibits marked male predominance with male‐to‐female ratios reaching 8.5:1, yet the molecular basis underlying this sex disparity remains poorly characterized. We analyzed 92 EAC specimens using mass spectrometry–based proteomics, comprising 47 female and 45 male tumors from treatment‐naïve patients ...
Alexander Quaas, Hanna Schiemann, Su Ir Lyu, Thomas Zander, Axel Hillmer, Hans Schlößer, Christiane J. Bruns, Reinhard Büttner, Bastian Grothey   +8 more
wiley   +1 more source

Functional assessment of a constitutively activating <i>CASR</i> variant causing autosomal dominant hypocalcemia. [PDF]

J Endocr Soc
Ward BK, Stuckey BGA, Walsh JP, Conigrave AD, Brown SJ, Wilson SG.   +5 more
europepmc   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Autosomal dominant macrothrombocytopenia with ineffective thrombopoiesis

Haematologica, 2002
F Fabris, F Fagioli, G Basso, A Girolami
doaj  

Autosomal Dominant Tubulointerstitial Kidney Disease-UMOD: Case Report and Disease Update. [PDF]

Diagnostics (Basel)
Bonomini M, Vezzani V, Rossini M, Di Liberato L, Stuppia L, Gatta V.   +5 more
europepmc   +1 more source

Polymorphic STRs represent unique genetic signals beyond SNPs associated with climate adaptation in Marchantia polymorpha

iMetaOmics, EarlyView.
Natural populations of Marchantia polymorpha sampled across contrasting climatic regions show clear geographic differentiation between Europe and Japan based on polymorphic short tandem repeat (STR) variation. Genome‐wide association (GWAS) analyses identified pSTR loci whose repeat‐length variation tracks temperature‐related WorldClim variables.
Shuangyang Wu, Shenghan Gao, Sen Wang, Martin Lascoux, Hao Yu   +4 more
wiley   +1 more source

Targeting Runx1 Slows Cyst Growth in Autosomal Dominant Polycystic Kidney Disease. [PDF]

FASEB J
Zhang Y, Liu C, Liu J, Li LX, Torres V, Li X, Zhou JX.   +6 more
europepmc   +1 more source