Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Annice Hill"'
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:
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:
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, 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:
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
Autor:
Bridgette Soileau, Courtney Sebold, Annice Hill, Jannine D. Cody, Louise O'Donnell, Minire Hasi, Daniel E. Hale
Publikováno v:
Journal of genetic counseling. 24(4)
The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child' sf uture. In the case of rare chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c12edfbdcced61ee7797d8801ea67c2b
https://pubmed.ncbi.nlm.nih.gov/25403900
https://pubmed.ncbi.nlm.nih.gov/25403900
Autor:
Brian Perry, Courtney Sebold, Erika Carter, Daniel E. Hale, Jonathan Gelfond, Annice Hill, Minire Hasi, Jannine D. Cody, Patricia Heard
Publikováno v:
Otologyneurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 35(5)
The objective of this study was to characterize hearing loss in individuals with deletions of distal chromsome18q and to identify the smallest region of overlap of their deletions, thereby identifying potential causative genes.The clinical data were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1770c0c23f2d01473ef23418dd04919
https://pubmed.ncbi.nlm.nih.gov/24662633
https://pubmed.ncbi.nlm.nih.gov/24662633
Autor:
Courtney Sebold, Daniel E. Hale, Annice Hill, Louise O'Donnell, Bridgette Soileau, Jannine D. Cody, Minire Hasi
Publikováno v:
Human genetics. 130(6)
The goal of this study is to define the effects of TCF4 hemizygosity in the context of a larger segmental deletion of chromosome 18q. Our cohort included 37 individuals with deletions of 18q. Twenty-seven had deletions including TCF4 (TCF4 (+/-)); ni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a94ada86278b1845b0d1be022911264
https://pubmed.ncbi.nlm.nih.gov/21671075
https://pubmed.ncbi.nlm.nih.gov/21671075
Autor:
Bridgette Soileau, Marsha Zimmerman, Elizabeth Roeder, Annice Hill, W. Abraham White, Minire Hasi, Erika Carter, Courtney Sebold, John Li, Brian Perry, Jack L. Lancaster, Louise O'Donnell, Daniel E. Hale, Martha P. Schatz, Lauren Pankratz, Kent A. Reinker, Jannine D. Cody, Patricia Heard
Publikováno v:
American journal of medical genetics. Part A. (9)
Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle ton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08661498d360b541567ca3244f44c985
https://pubmed.ncbi.nlm.nih.gov/20803640
https://pubmed.ncbi.nlm.nih.gov/20803640