Zobrazeno 1 - 10
of 182
pro vyhledávání: '"B. S. Emanuel"'
Autor:
Zargartalebi, H.1,2,3, Mirzaie, S.4, GhavamiNejad, A.1,5, Ahmed, S. U.1,6, Esmaeili, F.7,8, Geraili, A.4,5, Flynn, C. D.7, Chang, D.1, Das, J.7, Abdrabou, A.9,10, Sargent, E. H.7,8,11, Kelley, S. O.1,2,3,6,10 shana.kelley@northwestern.edu
Publikováno v:
Science. 12/6/2024, Vol. 386 Issue 6726, p1146-1153. 8p. 5 Diagrams.
Autor:
Junli Liu1,2,3, Qilin Li1,2,3, Yixuan Hu1,2,3, Yi Yu1,2,3, Kai Zheng1,2,3, Dengfeng Li1,2,3, Lexin Qin1,2,3, Xiaochun Yu1,2,3 yuxiaochun@westlake.edu.cn
Publikováno v:
Science. 12/6/2024, Vol. 386 Issue 6726, p1141-1146. 6p. 4 Diagrams.
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
Autor:
Keng Ioi Vong1,2, SangmoonLee1,2, Kit Sing Au3, Crowley, T. Blaine4, Capra, Valeria5, Martino, Jeremiah6, Haller, Meade7, Araújo, Camila8, Machado, Hélio R.8, George, Renee1,2, Gerding, Bryn1,2, James, Kiely N.1,2, Stanley, Valentina1,2, Nan Jiang1,2, Alu, Kameron1,2, Naomi Meave1,2, Nidhiry, Anna S.2, Jiwani, Fiza1,2, Tang, Isaac1,2, Nisal, Ashna1,2
Publikováno v:
Science. 5/3/2024, Vol. 384 Issue 6695, p584-590. 7p. 3 Diagrams.
Autor:
Sabbah, Majeed Arsheed1,2, Ibrahim Al-Sammarraie, Halah Khalid1,2 hala_kh76@nahrainuniv.edu.iq, Merie Alrawi, Abdulqader Abdulkareem1,2
Publikováno v:
Iraqi Journal of Science. 2024, Vol. 65 Issue 5, p2441-2449. 9p.
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