Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Patricia, Heard"'
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:
Julian Contet, Marjolein Kriek, Stephen J. Tapscott, Veronique Manel, Colleen M. Donlin-Smith, Nicolas Capet, Léonard Féasson, Anita van den Heuvel, Judit Balog, Remko Goossens, Sabrina Sacconi, C. Cambieri, Jannine D. Cody, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Patricia Heard, Patrick J. van der Vliet, Claudia A. L. Ruivenkamp, Kirsten R. Straasheijm, Rabi Tawil
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2018, 55 (7), pp.469--478. ⟨10.1136/jmedgenet-2017-105153⟩
Journal of Medical Genetics, 55(7), 469-478
Journal of Medical Genetics, 2018, 55 (7), pp.469--478. ⟨10.1136/jmedgenet-2017-105153⟩
Journal of Medical Genetics, 55(7), 469-478
Background18p deletion syndrome is a rare disorder caused by partial or full monosomy of the short arm of chromosome 18. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5206f853131d5981076eb3a7d4f52d6e
https://hal-univ-lyon1.archives-ouvertes.fr/hal-02465636
https://hal-univ-lyon1.archives-ouvertes.fr/hal-02465636
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, 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:
Andrew D Meyer, Anjana Raghunath, Patricia Heard, Robin Kamucheka, Crystal Lafleur, Michael Scherer, Andrew P Cap
Publikováno v:
Arteriosclerosis, Thrombosis, and Vascular Biology. 37
Over 18,000 children per year receive cardiopulmonary bypass (CPB) surgery. Unfortunately, common CPB-related thrombotic complications continue to result in significant mortality and morbidity. Previous ex-vivo CPB studies using animal blood document
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cadc500ad95efc03270b52ed1c5a360
https://doi.org/10.1161/atvb.37.suppl_1.149
https://doi.org/10.1161/atvb.37.suppl_1.149
Publikováno v:
Arteriosclerosis, Thrombosis, and Vascular Biology. 37
Inappropriate platelet function is a significant risk factor for cardiovascular disease, the leading cause of death in the United States. Although abnormal platelet function has a strong genetic component, very few human genes have been linked to pla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b07e17b57c2eada4eafaf852ad05281
https://doi.org/10.1161/atvb.37.suppl_1.516
https://doi.org/10.1161/atvb.37.suppl_1.516
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