Zobrazeno 1 - 10
of 31
pro vyhledávání: '"B. S. Emanuel"'
Publikováno v:
The Journal of Immunology. 152:5749-5757
The Ag receptor on B lymphocytes is a multimeric complex that is composed of an Ag-specific component, surface Ig, which is noncovalently associated with at least two other proteins, Ig alpha and Ig beta. These are the glycoprotein products of the B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71b8b41d7cca069559b550b202259603
https://doi.org/10.4049/jimmunol.152.12.5749
https://doi.org/10.4049/jimmunol.152.12.5749
Publikováno v:
Advances in pediatrics. 48
Estimates suggest that the 22q11.2 deletion occurs in approximately 1 in 4000 live births, making this disorder a significant health concern in the general population. The 22q11.2 deletion has been identified in the majority of patients with DiGeorge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37538bb29b47e4c755fa190a4d659562
https://pubmed.ncbi.nlm.nih.gov/11480765
https://pubmed.ncbi.nlm.nih.gov/11480765
Autor:
W S, Kerstjens-Frederikse, H, Kurahashi, D A, Driscoll, M L, Budarf, B S, Emanuel, B, Beatty, T, Scheidl, J, Siegel-Bartelt, K, Henderson, C, Cytrynbaum, G, Nie, I, Teshima
Publikováno v:
Journal of medical genetics. 36(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f638e530bd352f964525c492cadcc0bf
https://pubmed.ncbi.nlm.nih.gov/10507735
https://pubmed.ncbi.nlm.nih.gov/10507735
Autor:
M, Gerdes, C, Solot, P P, Wang, E, Moss, D, LaRossa, P, Randall, E, Goldmuntz, B J, Clark, D A, Driscoll, A, Jawad, B S, Emanuel, D M, McDonald-McGinn, M L, Batshaw, E H, Zackai
Publikováno v:
American journal of medical genetics. 85(2)
A microscopic deletion of chromosome 22q11.2 has been identified in most patients with the DiGeorge, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies. This study presents t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::423599437e720a96303b720bcff63617
https://pubmed.ncbi.nlm.nih.gov/10406665
https://pubmed.ncbi.nlm.nih.gov/10406665
Autor:
K E, Sullivan, A F, Jawad, P, Randall, D A, Driscoll, B S, Emanuel, D M, McDonald-McGinn, E H, Zackai
Publikováno v:
Clinical immunology and immunopathology. 86(2)
Monosomic deletions of chromosome 22q11.2 are the leading cause of DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. DiGeorge syndrome was originally described as an immunodeficiency disorder secondary to impaired T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1bb97b8eb5f213028a040baa7e02100f
https://pubmed.ncbi.nlm.nih.gov/9473376
https://pubmed.ncbi.nlm.nih.gov/9473376
Publikováno v:
American journal of medical genetics. 74(5)
Two infants with chromosome 22q11 deletion syndrome were noted to have symmetrically enlarged Sylvian fissures on cranial MRI. We compared the size of the Sylvian fissures in neuroimaging studies from 17 other subjects with del 22q11 to age-matched d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bc3c10adb1f7b3becdbaf634a67bb49a
https://pubmed.ncbi.nlm.nih.gov/9342208
https://pubmed.ncbi.nlm.nih.gov/9342208
Autor:
J E, Ming, D M, McDonald-McGinn, T E, Megerian, D A, Driscoll, E R, Elias, B M, Russell, M, Irons, B S, Emanuel, R I, Markowitz, E H, Zackai
Publikováno v:
American journal of medical genetics. 72(2)
Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5fc29b57c0a57ee58f1963c120626438
https://pubmed.ncbi.nlm.nih.gov/9382145
https://pubmed.ncbi.nlm.nih.gov/9382145
The majority of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) have deletions of chromosomal region 22q11.2. The abnormalities observed in these patients include conotruncal cardiac defects, thymic hypoplasia or aplasia, h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1f88869fb24692961712a8ed38395f90
https://europepmc.org/articles/PMC1712429/
https://europepmc.org/articles/PMC1712429/
Publikováno v:
American journal of medical genetics. 69(3)
The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e6e91e78c4fd7c704720ca2ed5c23e7
https://pubmed.ncbi.nlm.nih.gov/9096759
https://pubmed.ncbi.nlm.nih.gov/9096759
Publikováno v:
Journal of immunology (Baltimore, Md. : 1950). 152(12)
The Ag receptor on B lymphocytes is a multimeric complex that is composed of an Ag-specific component, surface Ig, which is noncovalently associated with at least two other proteins, Ig alpha and Ig beta. These are the glycoprotein products of the B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::84c2f0885e69dfd243a9428457d73dbb
https://pubmed.ncbi.nlm.nih.gov/8207205
https://pubmed.ncbi.nlm.nih.gov/8207205