Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Erin L. Youngs"'
Publikováno v:
Autism Research and Treatment, Vol 2012 (2012)
Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of chil
Externí odkaz:
https://doaj.org/article/f3ad868f51e6455bb186ccd3f63c7eff
Publikováno v:
Journal of Family Communication. 15:368-386
This study explores the family communication of women (N = 175) who have tested positive for a gene alteration that predisposes them to an increased risk for cancer. More specifically, this study utilizes family communication patterns theory and comm
Publikováno v:
European Journal of Medical Genetics. 55:32-36
Intellectual disability affects approximately 2% of the population with males outnumbering females due to involvement of over 300 genes on the X chromosome. The most common form of X-linked intellectual disability (XLID) is fragile X syndrome. We rep
Autor:
Merlin G. Butler, Jessica A. Hellings, Erin L. Youngs, Timothy McCord, Adele Schneider, Nancy B. Spinner
Publikováno v:
American Journal of Medical Genetics Part A. :230-233
Publikováno v:
Autism Research and Treatment, Vol 2012 (2012)
Autism Research and Treatment
Autism Research and Treatment
Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of chil
Publikováno v:
Clinical dysmorphology. 20(3)
Publikováno v:
Clin Dysmorphol
Deletions of the chromosome 14q32 region are rare but common clinical features indicate the presence of a cytogenetic syndrome. This condition is characterized by developmental delay, hypotonia, and a particular face (broad and flat nasal bridge, bro
Autor:
Peter Papenhausen, Inder K. Gadi, Fady M. Mikhail, Venkateswara R. Potluri, Janice L. Smith, Nathaniel H. Robin, Hiba Risheg, Rachel D. Burnside, Erin L. Youngs, Merlin G. Butler, Andrew J. Carroll, James Tepperberg, Vikram L. Jaswaney, Brooke Rush, Romela Pasion, Stuart Schwartz, Elizabeth Keitges
Publikováno v:
Human genetics. 130(4)
The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1–BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by e