Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Evan R Hathaway"'
Publikováno v:
American Journal of Medical Genetics Part A. 191:1107-1110
Autor:
Evan R Hathaway, Kenneth Offit, Jennifer Kennedy, Nicole Ali McNeer, Dominik Glodzik, Michael P. La Quaglia, Yelena Kemel, Peter G. Steinherz, Danielle Novetsky Friedman, Alex Kentsis, Alicia Latham, Arupa Ganguly, Todd Heaton, Karen Cadoo, Kelly A. Duffy, Andrew Kung, Michael V. Ortiz, Elli Papaemmanuil, Kaitlyn Tkachuk, Zsofia K. Stadler, Marianne Dubard Gault, Vijai Joseph, Justin T. Gerstle, Megan Harlan Fleischut, Michael Walsh, Elise Fiala, Jennifer M. Kalish, Nancy Bouvier, Neerav Shukla, Maria I. Carlo
Publikováno v:
Cancer
Background Constitutional or somatic mosaic epimutations are increasingly recognized as a mechanism of gene dysregulation resulting in cancer susceptibility. Beckwith‐Wiedemann syndrome is the cancer predisposition syndrome most commonly associated
Autor:
Christopher M. Cielo, Jennifer M. Kalish, Evan R Hathaway, Jonida Kupa, Kelly A. Duffy, Jennifer L. Cohen, Jesse A. Taylor
Publikováno v:
Plast Reconstr Surg
BACKGROUND: Macroglossia, a cardinal feature of the (epi)genetic disorder Beckwith-Wiedemann syndrome, is associated with obstructive sleep apnea, speech and/or feeding difficulties, and dental or jaw malalignment. These sequelae may be treated and/o
Autor:
Jennifer M. Kalish, N. Scott Adzick, Anita E. Beck, Emilie Lalonde, Arupa Ganguly, Laura K. Conlin, Sarah E Sheppard, Tricia R. Bhatti, Linda M. Randolph, Lisa J. States, Brian J Sajorda, Evan R Hathaway, Kelly A. Duffy, Katherine Lord, Rebecca L. Linn, Jianling Ji, Diva D. De León
Publikováno v:
Genet Med
PURPOSE: Beckwith–Wiedemann syndrome (BWS) is a human genomic imprinting disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects, congenital hyperinsulinism, and predisposition to embryonal tumors. One of the molecula
Autor:
Suzanne P. MacFarland, Kelly A. Duffy, Evan R Hathaway, Kelly D. Getz, Jennifer M. Kalish, Mallory E. Byrne
Publikováno v:
Genes; Volume 12; Issue 11; Pages: 1839
Genes
Genes, Vol 12, Iss 1839, p 1839 (2021)
Genes
Genes, Vol 12, Iss 1839, p 1839 (2021)
Beckwith–Wiedemann Spectrum (BWSp) is the most common epigenetic childhood cancer predisposition disorder. BWSp is caused by (epi)genetic changes affecting the BWS critical region on chromosome 11p15. Clinically, BWSp represents complex molecular a
Autor:
Kathleen H. Wang, Jennifer M. Kalish, Christina X Gonzalez-Gandolfi, Christopher M. Cielo, Matthew A. Deardorff, Arupa Ganguly, Jonida Kupa, Jessica R Griff, Kelly A. Duffy, Jesse A. Taylor, Jennifer L. Cohen, Evan R Hathaway
Publikováno v:
Am J Med Genet C Semin Med Genet
Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can present with a variety of clinical feat
Autor:
Jennifer M. Kalish, William C. Fix, James R. Treat, Christine M. Cornejo, Kelly A. Duffy, Adam I. Rubin, Evan R Hathaway
Publikováno v:
Pediatric Dermatology. 36:388-390
Chondrodermatitis nodularis helicis is an idiopathic degenerative process that presents as a painful nodule, papule, or ulcer on the helix or antihelix. It predominantly affects adults and is thought to be associated with trauma to the ear. We descri
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth disorder caused by epigenetic alterations on Chromosome 11p15.5. Most molecular changes are sporadic and are thought to occur in a mosaic pattern. Thereby, the distribution of affected cells di
Autor:
Jennifer M. Kalish, Christina X Gonzalez-Gandolfi, Evan R Hathaway, Arupa Ganguly, Jennifer L. Cohen, Kelly A. Duffy, Julie D. Kaplan, Matthew A. Deardorff, Jennifer Richards-Yutz, Brian J Sajorda, Andrew T. Gunter
Publikováno v:
Am J Med Genet A
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with a heterogeneous phenotypic spectrum. There is an increased prevalence of monozygotic twinning in BWS. Given the epigenetic nature and phenotypic spectrum that defines BWS, twins are oft
Autor:
Evan R Hathaway, Brian J Sajorda, Katheryn Grand, Matthew A. Deardorff, Alice C. Yu, Jennifer M. Kalish, Kelly A. Duffy
Publikováno v:
American Journal of Medical Genetics Part A.
Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype-phenotype correlations have been demonstrated in BWS and although BWS has bee