Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Christina Zaleski"'
Autor:
Jonathan D. Glass, Jennifer Roggenbuck, Marilly Palettas, Kelly A. Rich, Leah Vicini, Christina Zaleski, Luke Drury, Tara Lincoln, Joceyln Schroeder
Publikováno v:
Neurology Genetics. 7:e615
ObjectiveTo report the frequency of amyotrophic lateral sclerosis (ALS) genetic variants in a nationwide cohort of clinic-based patients with ALS with a family history of ALS (fALS), dementia (dALS), or both ALS and dementia (fALS/dALS).MethodsA mult
Autor:
Hannah C. Cox, Samuel Huang, Christina Zaleski, Darci Sternen, Donna Dorshorst, Cate Randall Paschal
Publikováno v:
Molecular Genetics and Metabolism. 132:S225
Publikováno v:
American Journal of Medical Genetics Part A. 173:1433-1435
Publikováno v:
American Journal of Medical Genetics Part A. 164:1841-1845
We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre- and post-axial limb defects, fibular agenes
Autor:
Elinor Langfelder-Schwind, Elaine A Sugarman, Steven Keiles, Christina Zaleski, Joy B Redman, Trisha Brown, Amy Powers, Sumheda Ghate, Michelle N. Strecker, Rebecca J. Darrah, Barbara A. Karczeski
Publikováno v:
Journal of Genetic Counseling. 23:5-15
To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated in
Publikováno v:
American Journal of Medical Genetics Part A. 161:1085-1090
We report on a 25-year-old woman who presented as a teenager with macrocephaly and multiple gastrointestinal lesions including ganglioneuromas, hamartomas, lipomas, juvenile, and hyperplastic polyps in association with extra-intestinal tumors includi
Publikováno v:
Pediatric Pulmonology. 46:1166-1174
Newborn screening is a public health policy program involving the centralized testing laboratory, infant and their family, primary care provider, and subspecialist for confirmatory testing and follow-up of abnormal results. Cystic fibrosis (CF) newbo
Publikováno v:
American Journal of Medical Genetics Part A. 155:1073-1080
Stillbirth accounts for about 26,000 deaths annually in the US. In most previous studies, discrete causes are identified in less than half of all stillbirths. In order to identify causes and non-causal but potentially contributing abnormalities, we a
Autor:
Peggy Modaff, Catherine A. Reiser, Sumedha Ghate, Craig R. Adamski, Megan R. Nelson, Dania Stachiw-Hietpas, Audrey Tluczek, Christina Zaleski, Kevin D. Josephson
Publikováno v:
Journal of Genetic Counseling. 20:115-128
This article describes the development of a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). A genetic counseling consortium reviewed research literature, selected theoretica
Publikováno v:
Genetics in Medicine. 12:135-144
The highly variable 22q11 deletion syndrome has been proposed for addition to newborn screening panels. A literature review investigated the incidence and prevalence, clinical features, and prognosis of 22q11 deletion syndrome and other issues relate