Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Courtney Sebold"'
Autor:
Jozef Gecz, Raman Kumar, Roger E Stevenson, Michael Field, Michael J Friez, Susan Sklower Brooks, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Charles E Schwartz
Publikováno v:
BMJ Open, Vol 6, Iss 4 (2016)
Background X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequenc
Externí odkaz:
https://doaj.org/article/63e513f726c64e4db29d23d9f58c5f6e
Autor:
Patricia Heard, Annice Hill, Jannine D. Cody, Courtney Sebold, David Rupert, Daniel E. Hale, Minire Hasi-Zogaj
Publikováno v:
Human Genetics. 137:961-970
In 2009, we described the first generation of the chromosome 18 gene dosage maps. This tool included the annotation of each gene as well as each phenotype associated region. The goal of these annotated genetic maps is to provide clinicians with a too
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2cd86532c65d209216668397b02098c
https://doi.org/10.1007/s00439-018-1960-6
https://doi.org/10.1007/s00439-018-1960-6
Autor:
Sara Knapke, Jane Juusola, Leah Williams, Bethany Friedman, Elizabeth Butler, Rachel T. Klein, Amanda Singleton, Rachel Nusbaum, Courtney Sebold, Kirsty McWalter, Rebecca Willaert, Tara Hart, Megan T. Cho
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. 178(1)
The skill sets of genetic counselors are strongly utilized in industry, as evidenced by 20% of genetic counselors reporting employment within industry in 2016. In addition, industry genetic counselors are expanding their roles, taking on new responsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0d94a997cd7f84e8af8ff050594854
https://pubmed.ncbi.nlm.nih.gov/29675991
https://pubmed.ncbi.nlm.nih.gov/29675991
Autor:
David Rupert, Brian Perry, Louise O'Donnell, Peter T. Fox, Jonathan Gelfond, Annice Hill, Bridgette Soileau, Jack L. Lancaster, Erika Carter, Courtney Sebold, Daniel E. Hale, Patricia Heard, Jannine D. Cody, Minire Hasi-Zogaj
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 169:265-280
Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df4795cbd9232d99ca0c5bcb572747c2
https://doi.org/10.1002/ajmg.c.31446
https://doi.org/10.1002/ajmg.c.31446
Autor:
Bridgette Soileau, Jonathan Gelfond, Daniel E. Hale, Louise O'Donnell, Jannine D. Cody, Courtney Sebold
Publikováno v:
American Journal of Medical Genetics Part A. 167:1474-1482
Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::478da96242a3a296714eb56a4d4ff2f9
https://doi.org/10.1002/ajmg.a.37036
https://doi.org/10.1002/ajmg.a.37036
Autor:
Bridgette Soileau, Louise O'Donnell, Erika Carter, Courtney Sebold, Jannine D. Cody, Patricia Heard, Daniel E. Hale
Publikováno v:
American Journal of Medical Genetics Part A. 167:313-323
Deletions of the short arm of chromosome 18 have been well-described in case reports. However, the utility of these descriptions in clinical practice is limited by varied and imprecise breakpoints. As we work to establish genotype-phenotype correlati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4438346bfac0356d0755c33db6b39339
https://doi.org/10.1002/ajmg.a.36880
https://doi.org/10.1002/ajmg.a.36880
Autor:
Minire Hasi-Zogaj, Bridgette Soileau, Daniel E. Hale, David Rupert, Annice Hill, Courtney Sebold, Patricia Heard, Jannine D. Cody
Publikováno v:
Molecular Genetics & Genomic Medicine
Background The Chromosome 18 Clinical Research Center has created a pediatrician‐friendly virtual resource center for managing patients with chromosome 18 abnormalities. To date, children with rare chromosome abnormalities have been cared for eithe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a034f083ef0cdf3c975e7297688ef3f5
https://pubmed.ncbi.nlm.nih.gov/29603904
https://pubmed.ncbi.nlm.nih.gov/29603904
Autor:
Charles E. Schwartz, Stephen McGee, Mark A. Corbett, Marie A. Shaw, Samantha Saxon, Michael Field, Raman Kumar, Lucy Murray, Cindy Skinner, Ying Yzu Yap, Courtney Sebold, Monica J. Basehore, Maria E. Craig, Roger E. Stevenson, Jozef Gecz, Barbara van Loon, Richard J. Simensen, Susan Sklower Brooks, Fatima Abidi, Patrick S. Tarpey, Matthias Bosshard, Michael J. Friez, Lesley C. Adès, Alison Gardner
Publikováno v:
BMJ Open
Background X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c0b5b535f4e4281f64f9018cdbc3647
https://pubmed.ncbi.nlm.nih.gov/27130160
https://pubmed.ncbi.nlm.nih.gov/27130160
Autor:
Courtney Sebold, Patricia Heard, Erika Carter, Bridgette Soileau, Jannine D. Cody, Daniel E. Hale, Jonathan Gelfond, Louise O'Donnell
Publikováno v:
Human Genetics. 128:155-164
Previous research has suggested that individuals with constitutional hemizygosity of 18q have a higher risk of autistic-like behaviors. We sought to identify genomic factors located on chromosome 18 as well as other loci that correlate with autistic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1973b1569df1baceaef591a33e2f8d2c
https://doi.org/10.1007/s00439-010-0839-y
https://doi.org/10.1007/s00439-010-0839-y
Publikováno v:
Journal of Genetic Counseling. 18:622-691
s have been arranged by the Abstract Workgroup into the following categories: I. Award Papers II. Late-Breaking Papers III. Cancer IV. Communication V. Consumers’ Perspectives VI. Genetic Testing VII. Pediatrics VIII Preand Perinatal IX. Service Pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cd9d41abb2adca76f76b42f5ee7486a
https://doi.org/10.1007/s10897-009-9259-3
https://doi.org/10.1007/s10897-009-9259-3