Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Patricia D. Ghidoni"'
Autor:
Shaine Muller, Douglas S. Hoffman, Robert F. Stratton, Celia I. Kaye, Patricia D. Ghidoni, Rebecca L. Schaub, Barbara R. DuPont, Robin J. Leach, Daniel E. Hale, Susan G. Hilsenbeck, Jannine D. Cody
Publikováno v:
American Journal of Medical Genetics. 85:455-462
Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd355445c0d79101907da264e466a8d
https://doi.org/10.1002/(sici)1096-8628(19990827)85:5<455::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990827)85:5<455::aid-ajmg5>3.0.co
Autor:
Jessica F. Pierce, Patricia D. Ghidoni, Celia I. Kaye, Zoran Brkanac, Robin J. Leach, Jannine D. Cody, Rosemarie Plaetke
Publikováno v:
American Journal of Medical Genetics. 69:280-286
Individuals with the 18q- syndrome have variable deletions from the long arm of chromosome 18. They also exhibit a highly variable phenotype. To correlate genotype with phenotype accurately, extensive molecular and phenotypic analyses are needed on e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bfd9dec43d6b49c07621eb6dabcce6e1
https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<280::aid-ajmg12>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<280::aid-ajmg12>3.0.co
Autor:
Patricia D. Ghidoni, Charleen M. Moore, Christopher McCaskill, Lisa G. Shaffer, Robert W. Huff, Christi A. Walter, Melinda B. McFarland, Celia I. Kaye
Publikováno v:
American Journal of Medical Genetics. 65:259-265
Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f6f6526e2c77e71a32ad9acbf76e253
https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<259::aid-ajmg2>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<259::aid-ajmg2>3.0.co
Autor:
Robin J. Leach, Margaret Semrud-Clikeman, Celia I. Kaye, John E. Cornell, Lynda T. Wells, L. Jean Hardies, Nora M. Thompson, Jack L. Lancaster, Patricia D. Ghidoni, Rebecca L. Schaub, Tanzy Love, Daniel E. Hale, Peter T. Fox, Jannine D. Cody
Publikováno v:
American journal of medical genetics. Part A. 137(1)
Most individuals with constitutional deletions of chromosome 18q have developmental delays, dysmyelination of the brain, and growth failure due to growth hormone deficiency. We monitored the effects of growth hormone treatment by evaluating 23 indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::838579af96943030b8203748ff82b162
https://pubmed.ncbi.nlm.nih.gov/16007630
https://pubmed.ncbi.nlm.nih.gov/16007630