Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Margaret A. Hefner"'
Each of the editors is an established expert on CHARGE syndrome and has received the highest award bestowed by the CHARGE Syndrome Foundation, the Stars in CHARGE. They represent three different disciplines: psychology, genetic counseling, and clinic
Autor:
Jessica X. Chong, Deborah A. Nickerson, Donna M. Martin, Margaret A. Hefner, Stephanie L. Bielas, Jennifer M. Skidmore, Anshika Srivastava, John A. Bernat, Amanda Moccia, Michael J. Bamshad, Marsha M. Wheeler
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose CHARGE syndrome is an autosomal dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding
Autor:
Nancy Salem-Hartshorne, Margaret A. Hefner, Timothy S Hartshorne, Peter C. Scacheri, Donna M. Martin
Publikováno v:
American Journal of Medical Genetics Part A. 170:856-869
The CHARGE Syndrome Foundation holds an International conference for families and professionals every other summer. In July, 2015, the 12th meeting was held in Schaumburg, Illinois, at the Renaissance Schaumburg Hotel. Day one of the 4-day conference
Autor:
Emily Fassi, Margaret A. Hefner
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. 175(4)
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inh
Publikováno v:
Clinical Genetics. 29:298-310
Fifteen patients with CHARGE syndrome are described, nine sporadic and six familial. A recognizable pattern of malformations is present which appears to constitute a syndrome rather than a non-random association. In addition to acronymic features of
Autor:
Steven R. Neish, Richard A. Gibbs, Karine C. Harutyunyan, Nancy L. Glass, Sandra L.H. Davenport, Arsalan M. Safiullah, William J. Craigen, John Douglas Mcpherson, Carlos A. Bacino, Leif E. Peterson, Jeffrey A. Towbin, Angela E. Lin, Margaret A. Hefner, Lisa D. White, Susan D. Fernbach, John W. Belmont, Christina Thaller, Seema R. Lalani, John M. Graham
Publikováno v:
The American Journal of Human Genetics. 78:303-314
CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diagnostic criteria. Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner e
Publikováno v:
American Journal of Medical Genetics Part A. :228-231
Challenging behavior in children with CHARGE syndrome has been increasingly a concern of parents, educators, and health professionals. This article introduces the special topic in the American Journal of Medical Genetics on behavior in individuals wi
Autor:
Carlos A. Bacino, William J. Craigen, Sandra L.H. Davenport, Jeffrey A. Towbin, David W. Stockton, Laura Molinari, Seema R. Lalani, Angela E. Lin, Margaret A. Hefner, John M. Graham, Nancy L. Glass, Susan D. Fernbach, John W. Belmont, Kim L. McBride
Publikováno v:
American Journal of Medical Genetics. :260-266
CHARGE syndrome is a distinctive subgroup within the more heterogeneous group of patients with CHARGE association. While significant progress has been made in the clinical delineation of this syndrome, the molecular basis of the disorder remains unkn
Autor:
Bryan D. Hall, Kim Blake, Sandra L.H. Davenport, Marc S. Williams, John M. Graham, Angela E. Lin, Roberta A Pagon, Margaret A. Hefner
Publikováno v:
Clinical Pediatrics. 37:159-173
CHARGE association is a nonrandom pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. This common multiple anomaly condition has an estimated prevalence of 1:10,000. The number of childre
Autor:
Gerard Corsten, Carrie-Lee Trider, Debra Morrison, Kim Blake, Sandra Davenport, Margaret A. Hefner
Publikováno v:
International journal of pediatric otorhinolaryngology. 76(7)
CHARGE syndrome occurs in approximately 1 in 8500 live births and is diagnosed clinically by combinations of major characteristics: choanal atresia, coloboma, characteristic ears, cranial nerve abnormalities and distinct temporal bone anomalies. More