Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Bridgette, Soileau"'
Autor:
Hrishikesh Das, Minire Hasi-Zogaj, Bridgette Soileau, Alvaro Moreira, Daniel E. Hale, Jan M. Bruder, Annice Hill, Jannine D. Cody
Publikováno v:
American journal of medical genetics. Part A. 179(3)
Tetrasomy 18p is a rare chromosomal abnormality, resulting from an additional iso-chromosome composed of two copies of the short arm. It is characterized by craniofacial abnormalities, neuromuscular dysfunction, and developmental delay. The Chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea5eec516b2a8ce0ec61e3c8822ad59
https://pubmed.ncbi.nlm.nih.gov/30637922
https://pubmed.ncbi.nlm.nih.gov/30637922
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:
Bridgette Soileau, Jonathan Gelfond, William B. Daviss, Patricia Heard, Louise O'Donnell, Daniel E. Hale, Erika Carter, Jannine D. Cody, Steven R. Pliszka
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 162:879-888
We examined 36 participants at least 4 years old with hemizygous distal deletions of the long arm of Chromosome 18 (18q-) for histories of mood disorders and to characterize these disorders clinically. Since each participant had a different region of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd99d24244060de144f9658b08e2840
https://doi.org/10.1002/ajmg.b.32197
https://doi.org/10.1002/ajmg.b.32197
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
Autor:
Bridgette Soileau, Erika Carter, Courtney Sebold, Brian Perry, Rebecca L. Schaub, AnaLisa C. Crandall, Jannine D. Cody, Peter T. Fox, Annice Hill, Daniel E. Hale, Jack L. Lancaster, L. Jean Hardies, Patricia Heard, Jinqi Li, Minire Hasi, Robert F. Stratton
Publikováno v:
American Journal of Medical Genetics Part A. :1421-1430
One of our primary goals is to help families who have a child with an 18q deletion anticipate medical issues in order to optimize their child’s medical care. To this end we have narrowed the critical regions for four phenotypic features and determi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4932d367df2911261d9df41adbc7dd0e
https://doi.org/10.1002/ajmg.a.32899
https://doi.org/10.1002/ajmg.a.32899
Autor:
Patricia Heard, Catherine M. Cody, Jinqi Li, Jack L. Lancaster, AnaLisa C. Crandall, Robert F. Stratton, Daniel E. Hale, Peter T. Fox, Brian Perry, L. Jean Hardies, Amtul Malik, Erika Carter, Jannine D. Cody, Margaret Semrud-Clikeman, Bridgette Soileau, Courtney Sebold
Publikováno v:
American Journal of Medical Genetics Part A. :1181-1190
Most deletions of the long arm of chromosome 18 involve some part of the most distal 30 Mb. We have identified five individuals with cytogenetically diagnosed interstitial deletions that are all proximal to this commonly deleted region. The extent of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02094385a99df7d7774e8db6f308121f
https://doi.org/10.1002/ajmg.a.31729
https://doi.org/10.1002/ajmg.a.31729
Autor:
Jannine D, Cody, Courtney, Sebold, Patricia, Heard, Erika, Carter, Bridgette, Soileau, Minire, Hasi-Zogaj, Annice, Hill, David, Rupert, Brian, Perry, Louise, O'Donnell, Jon, Gelfond, Jack, Lancaster, Peter T, Fox, Daniel E, Hale
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. 169(3)
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=pmid________::05ca608a21eaea0ac761adddbf98cf3f
https://pubmed.ncbi.nlm.nih.gov/26235940
https://pubmed.ncbi.nlm.nih.gov/26235940