Results 241 to 250 of about 234,487 (302)

Noncanonical Nucleotides in the Genome Around the Maternal‐Zygotic Transition

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
In this paper, Kazzazi et al. provide a comprehensive review of the dynamics of nonconventional nucleotides in the genome during early developmental stages, hypothesizing a potential role for these nucleotides in the activation of the zygotic genome. ABSTRACT From the very moment of fertilization and throughout development, the cells of animal embryos ...
Latifa Kazzazy, Dávid Mező, Kinga K. Nagy, Viktória Perey‐Simon, Judit Tóth, Angéla Békési, Beáta Vértessy, Máté Varga   +7 more
wiley   +1 more source

Prevalence and Clinical Implications of Somatic and Germline EGFR Mutations in Patients with Non-Small-Cell Lung Cancer. [PDF]

Cancers (Basel)
Zhang J, Zha L, Liang R, Li T.
europepmc   +1 more source

Clinical and genetic features of pediatric hereditary polyposis syndromes in Israel: A nationwide multicenter cohort

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Hereditary polyposis syndromes in children are rare, heterogeneous disorders associated with significant morbidity and long‐term risk of malignancy. Current data on their presentation, management, and outcomes in pediatric populations remain limited.
Shlomi Cohen, Tal Cozacov, Ilana Weintraub, Ron Shaoul, Oren Ledder, Dotan Yogev, Mordechai Slae, Ranya Egbarieh, Galina Ling, Anat Yerushalmy‐Feler   +9 more
wiley   +1 more source

Evaluating Somatic Mutational Contamination in Large-Scale Germline Genomic Studies. [PDF]

Biology (Basel)
Ji X, Bai X, He G, Yan K, Wang E, Tang YD, Chen L, Cui Q.   +7 more
europepmc   +1 more source

A case report of non‐syndromic colonic ganglioneuroma in a patient with juvenile polyposis

JPGN Reports, EarlyView.
Abstract Colonic ganglioneuromas in children are rare, particularly without associated hereditary syndromes like multiple endocrine neoplasia (MEN2B), neurofibromatosis type 1(NF1), or Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We report a 12‐year‐old male with a history of juvenile polyposis syndrome (JPS) and segmental colonic ...
Holly Coffey, Kshitij Arora, Matthew J. Giefer   +2 more
wiley   +1 more source

Precision medicine and parental experience: a longitudinal study of psychosocial responses to germline genomic results in pediatric oncology. [PDF]

Front Med (Lausanne)
Weaver MS, Flynn JS, Li J, Armstrong GM, Harrison LW, Mandrell BN, Wooten ZT, Johnson LM, Nichols KE, Howard Sharp KM.   +9 more
europepmc   +1 more source

Paired Exome-Based Comprehensive Genomic Profiling and Germline Genetic Testing for Unselected Patients With Colorectal Cancer in a Multicenter Prospective Study. [PDF]

Gastro Hep Adv
Serrano Uson PL, Reuther J, Golafshar MA, Hawley MH, Lavy E, Young SM, Bekaii-Saab T, Wu C, Korn WM, Esplin ED, Zhao J, Kunze KL, Daber R, Samadder J.   +13 more
europepmc   +1 more source

Recreating the Female Germline In Vitro

Biology of Reproduction, 2016
openaire   +2 more sources

Genomic profiling of Mexican patients with B-cell precursor acute lymphoblastic leukemia reveals clinically significant somatic and potential germline variants. [PDF]

J Pathol Clin Res
Martínez Anaya D, Juárez-Velázquez MDR, Juárez Figueroa U, Dean M, Salas Labadía C, Valladares Coyotecatl M, Reyes León A, López Santiago N, Juárez Villegas L, Zapata Tarrés M, Pérez-Vera P.   +10 more
europepmc   +1 more source

Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection. [PDF]

J Med Genet
Tostrud L, Turkmen SB, Zhang J, Hodan R, Kingham K, Dorigo O, Ford JM, Kurian AW, Ghezelayagh TS.   +8 more
europepmc   +1 more source