Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Minire Hasi-Zogaj"'
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:
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:
Moreira, Alvaro, Das, Hrishikesh, Hasi‐Zogaj, Minire, Soileau, Bridgette, Hill, Annice, Bruder, Jan M., Hale, Daniel E., Cody, Jannine D.
Publikováno v:
American Journal of Medical Genetics. Part A; Mar2019, Vol. 179 Issue 3, p417-422, 6p
Autor:
Cody, Jannine D., Heard, Patricia, Rupert, David, Hasi-Zogaj, Minire, Hill, Annice, Sebold, Courtney, Hale, Daniel E.
Publikováno v:
Human Genetics; Dec2018, Vol. 137 Issue 11/12, p961-970, 10p
Autor:
Hasi‐Zogaj, Minire, Sebold, Courtney, Heard, Patricia, Carter, Erika, Soileau, Bridgette, Hill, Annice, Rupert, David, Perry, Brian, Atkinson, Sidney, O'Donnell, Louise, Gelfond, Jon, Lancaster, Jack, Fox, Peter T., Hale, Daniel E., Cody, Jannine D.
Publikováno v:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2015, Vol. 169C Issue 3, p251-264, 14p
Autor:
Cody, Jannine D., Sebold, Courtney, Heard, Patricia, Carter, Erika, Soileau, Bridgette, Hasi‐Zogaj, Minire, Hill, Annice, Rupert, David, Perry, Brian, O'Donnell, Louise, Gelfond, Jon, Lancaster, Jack, Fox, Peter T., Hale, Daniel E.
Publikováno v:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2015, Vol. 169C Issue 3, p265-280, 16p