Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Umadevi Tantravahi"'
Publikováno v:
Gynecologic Oncology Reports, Vol 32, Iss , Pp - (2020)
The human epidermal growth factor receptor 2 (Her2) is tested in many human cancers, including breast, bladder, pancreatic, ovarian and stomach. The American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAP) have issued Clini
Externí odkaz:
https://doaj.org/article/6218a146bd844ea58a5cb1407c01bc9a
Autor:
Fatimah Alsebaa, Lauren J. Massingham, Diana W. Bianchi, Umadevi Tantravahi, Faycal Guedj, Ashley E Siegel, Jeroen L. A. Pennings
Publikováno v:
Am J Hum Genet
Human fetuses with trisomy 21 (T21) have atypical brain development that is apparent sonographically in the second trimester. Prenatal diagnosis provides a potential opportunity to begin treatment in utero. We hypothesize that by analyzing and integr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f13b5dfd471e00118483e488182fba9d
http://hdl.handle.net/10029/624466
http://hdl.handle.net/10029/624466
Publikováno v:
Gynecologic Oncology Reports, Vol 32, Iss, Pp-(2020)
Gynecologic Oncology Reports
Gynecologic Oncology Reports
Highlights • Unique overexpression of Her2/neu in uterine serous carcinoma. • Testing hysterectomy specimen may be better. • Metastatic tumor or tissue with tumor emboli testing is better. • Intratumoral heterogeneity of Her2/neu overexpressi
Publikováno v:
Pediatric and Developmental Pathology. 22:70-74
Simpson–Golabi–Behmel syndrome type I (SGBS, OMIM312870), caused by defects of the GPC3 and GPC4 genes on chromosome Xq26, is an X-linked recessive macrosomia/multiple congenital anomaly disorder characterized by somatic overgrowth, coarse facial
Autor:
Michael Schmidt, Umadevi Tantravahi, Mark F Sabbagh, Jeffrey M. Rogg, Judy S. Liu, Rebecca L. McLean, David M. Stein, Annapurna Poduri, Matthew F. Pescosolido, Christelle Moufawad El Achkar, Eric M. Morrow
Publikováno v:
Annals of Neurology. 76:581-593
Mutations in the X-linked endosomal Na+/H+ Exchanger 6 (NHE6, also known as SLC9A6) cause a newly-recognized, neurogenetic syndrome with variable expressivity. In a systematic, large-scale resequencing screen of X-chromosome exons in pedigrees consis
Autor:
Monique E. De Paepe, Umadevi Tantravahi, Suzanne DeLaMonte, Geralyn Lambert-Messerlian, Diana Vargas, Mara G. Coyle, Fusun Gundogan, Terakeith Lertsburapa
Publikováno v:
Pediatric and Developmental Pathology. 17:374-381
We report a case of a 31-week-gestation male newborn who died soon after birth from intractable respiratory failure and persistent pulmonary hypertension. The pregnancy had been complicated by intermittent bleeding between 13 and 20 weeks' gestation,
Autor:
Lindsay Maggio, Suzanne DeLaMonte, Halit Pinar, John R. Pepperell, Mai He, Umadevi Tantravahi, Barbara O'Brien, Monique E. De Paepe, Shaolei Lu, Stefan Kostadinov, Fusun Gundogan
Publikováno v:
American Journal of Medical Genetics Part A. 164:1227-1233
Monochorionic-diamniotic twins are usually monozygotic twins and known to be associated with adverse obstetric and perinatal outcomes. Cases of discordant karyotype of monozygotic twins are rare and most involves sex chromosomes. We present the first
Autor:
Diana W. Bianchi, Umadevi Tantravahi, Lauren J. Massingham, Ashley E. Siegel, Heather C. Wick, Faycal Guedj, Jeroen L. A. Pennings
Publikováno v:
Scientific Reports
Anatomical and functional brain abnormalities begin during fetal life in Down syndrome (DS). We hypothesize that novel prenatal treatments can be identified by targeting signaling pathways that are consistently perturbed in cell types/tissues obtaine
Autor:
Umadevi Tantravahi, Michele M. Lomme, Terese Pasquariello, C. James Sung, Margaret M. Steinhoff, Kamaljeet Singh
Publikováno v:
Breast cancer research and treatment. 157(3)
For dual probe HER2 FISH assay, the 2013 CAP/ASCO guideline recommendations lowered the HER2/CEP17 ratio cut off for HER2 amplification to ≥2.0 and introduced an average HER2 copy number criterion for HER2 amplification (≥6.0/cell) and HER2 equiv
Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18
Autor:
Diana W. Bianchi, Umadevi Tantravahi, Kirby L. Johnson, Keiko Koide, Donna K. Slonim, Janet M. Cowan
Publikováno v:
Human Genetics. 129:295-305
Trisomy 18 is a common human aneuploidy that is associated with significant perinatal mortality. Unlike the well-characterized "critical region" in trisomy 21 (21q22), there is no corresponding region on chromosome 18 associated with its pathogenesis