Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Ann O. Shigeoka"'
Autor:
Anna Huttenlocher, Christian H.L. Rieger, Lars Marthinsen, Luigi D. Notarangelo, Kathleen E. Sullivan, Teresa Espanol, E. Richard Stiehm, A. David B. Webster, Roger H. Kobayashi, Charlotte Cunningham-Rundles, Raman Sankar, Peter Rudge, Srdjan Pasic, Ann O. Shigeoka, Ulrike H.M. Ziegner, Hans D. Ochs, Paul Krogstad, Anders Fasth
Publikováno v:
Clinical Immunology. 102:19-24
We have identified 14 patients with diverse primary immunodeficiencies who have developed progressive neurodegeneration of unknown etiology. All patients had received immunoglobulin replacement therapy for a mean duration of 6.5 years (range of 0.5-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b03f4c6e194e56f9eab1a70b02c4abff
https://doi.org/10.1006/clim.2001.5140
https://doi.org/10.1006/clim.2001.5140
Autor:
Qili Zhu, Kathy O'Briant, Ann O. Shigeoka, Phillip F. Chance, Mary E. Brunkow, Hans D. Ochs, Craig L. Bennett, Ramsay Fuleihan, Fred Ramsdell
Publikováno v:
Immunogenetics. 53:435-439
The mouse scurfy gene, Foxp3, and its human orthologue, FOXP3, which maps to Xp11.23-Xq13.3, were recently identified by positional cloning. Point mutations and microdeletions of the FOXP3 gene were found in the affected members of eight of nine fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f8ac43c868f2f6bb588cd755242cc1
https://doi.org/10.1007/s002510100358
https://doi.org/10.1007/s002510100358
Autor:
John C. Carey, Ann O. Shigeoka, John C. Christenson, John F. Bohnsack, Harry R. Hill, David Viskochil, Elisabeth E. Adderson
Publikováno v:
American Journal of Medical Genetics. 95:17-20
We report on two children who may represent a novel syndrome consisting of a deficiency of immunoglobulin-bearing B lymphocytes and serum antibody, deficient intrauterine and/or postnatal growth, intracranial calcifications, and acquired pancytopenia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efcad00bd91fce91661571c37f56a1a2
https://doi.org/10.1002/1096-8628(20001106)95:1<17::aid-ajmg5>3.0.co
https://doi.org/10.1002/1096-8628(20001106)95:1<17::aid-ajmg5>3.0.co
Publikováno v:
Pediatrics. 85:526-530
The velocardiofacial syndrome is an autosomal dominant disorder characterized by cleft palate, cardiac anomalies, characteristic facies, and learning disabilities. The Di George anomaly involves developmental defects of the third and fourth pharyngea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c642d8abcd6eb29132b1d46423277f6f
https://doi.org/10.1542/peds.85.4.526
https://doi.org/10.1542/peds.85.4.526
Autor:
Diane E. Lorant, Roberta H. Adams, Guy A. Zimmerman, Stephen M. Prescott, Wenhua Li, Ann O. Shigeoka, Estelle S. Harris, Thomas M. McIntyre
Publikováno v:
Blood. 97(3)
Leukocyte adhesion deficiency type I (LAD-1) is a disorder associated with severe and recurrent bacterial infections, impaired extravascular targeting and accumulation of myeloid leukocytes, altered wound healing, and significant morbidity that is ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec1cad65fe185990fea5d4102052e72e
https://pubmed.ncbi.nlm.nih.gov/11157496
https://pubmed.ncbi.nlm.nih.gov/11157496
Autor:
Pamela R. Fain, Hidenori Kiyosawa, Craig L. Bennett, Ann O. Shigeoka, Ritsuko Yoshioka, Phillip F. Chance, David F. Barker
SummaryWe describe genetic analysis of a large pedigree with an X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea (XPID), which frequently results in death during infancy or childhood. Linkage analysis mapped the XPID gene to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e423c40e538b92aa86bbd5b54fea440a
https://europepmc.org/articles/PMC1288099/
https://europepmc.org/articles/PMC1288099/
Autor:
Ann O. Shigeoka
Publikováno v:
American Journal of Medical Genetics. 86:92-92
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a8abe6a44dc6b0d17e5f70cbee98ff8
https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<92::aid-ajmg21>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<92::aid-ajmg21>3.0.co
Autor:
Ann O. Shigeoka
Publikováno v:
Pediatric Research. 45:12A-12A
Delayed Umbilical Cord Separation Is NOT Commonly Associated with Leukocyte Adhesion Deficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69baabf38b6e795ffec954aabe1b77d7
https://doi.org/10.1203/00006450-199904020-00077
https://doi.org/10.1203/00006450-199904020-00077