Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Madhuri Prasad"'
Autor:
Madhuri Prasad, MD, John M. Morrison, MD, PhD, Sumeet L. Banker, MD, MPH, Jennifer Lee, MD, Julie K. Wood, DO, Annalise Van Meurs, MD, Kathryn Westphal, MD, Emma Schwendeman, MD, Stephanie Berger, MD, Elizabeth O. Mertens, MD, Saylor McCartor, DO, Meredith Mitchell, MD, Clifton Lee, MD, Monica D. Combs, MD, Kira Molas-Torreblanca, DO, MPH, Joseph A. Ewing, PhD, Elizabeth E. Halvorson, MD, MS, Nicholas M. Potisek, MD, Sanford Williams, MD, Jennifer Raffaele, MD, Vignesh Dorsaiswamy, MD, Evan Ingram, MD, Meenu Sharma, DO
Publikováno v:
Journal of Pediatrics: Clinical Practice, Vol 12, Iss , Pp 200095- (2024)
Objectives: We sought to compare the prevalence of serious bacterial infections (SBI; urinary tract infection, bacteremia, and/or meningitis) and invasive bacterial infections (IBI; bacteremia and/or meningitis) among infants with hypothermia with po
Externí odkaz:
https://doaj.org/article/fe98c4dbf2e040e680df7749cf95c8e3
Autor:
Jennifer L. Raffaele, Meenu Sharma, Stephanie Berger, Meredith Mitchell, Clifton Lee, John Morrison, Madhuri Prasad, Monica D. Combs, Kira Molas-Torreblanca, Julie K. Wood, Annalise Van Meurs, Kathryn Westphal, Ali Sawani, Sumeet L. Banker, Jennifer Lee, Coleton King, Elizabeth E. Halvorson, Nicholas M. Potisek, Saylor McCartor, Vignesh Doraiswamy, Sanford Williams
Publikováno v:
The Journal of Pediatrics. :113407
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e98c84305057604eb8f563e6af39b8b
https://doi.org/10.1016/j.jpeds.2023.113407
https://doi.org/10.1016/j.jpeds.2023.113407
Publikováno v:
Journal of clinical pathology. 58(1)
Aims: To analyse the gene encoding the CD40 ligand (CD40L) in 11 Australian patients from 10 unrelated families with the X linked hyper-IgM (XHIM) phenotype. Methods: The CD40L gene was screened for mutations using direct sequencing of exon specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7348eb9bed057d2ce3eaeb8c88ad3a
https://pubmed.ncbi.nlm.nih.gov/15623492
https://pubmed.ncbi.nlm.nih.gov/15623492
Publikováno v:
Human mutation. 23(4)
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02922e6d36feb1574f246e7c23799fd1
https://pubmed.ncbi.nlm.nih.gov/15024743
https://pubmed.ncbi.nlm.nih.gov/15024743
Publikováno v:
Clinical and experimental immunology. 124(3)
SUMMARY The presentation of hypogammaglobulinaemia in young males without a family history of immunodeficiency can pose a diagnostic problem. In the past, the presence of B-cells has suggested a diagnosis of common variable immunodeficiency (CVID), a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2af72ede4e50bb11ea0e53d2b948ae
http://ora.ox.ac.uk/objects/uuid:de25c442-de82-4e59-be69-c6bbe409a03f
http://ora.ox.ac.uk/objects/uuid:de25c442-de82-4e59-be69-c6bbe409a03f
Publikováno v:
Archives of disease in childhood. 72(5)
Eighty seven referrals with Prader-Willi syndrome and 49 with Angelman's syndrome were studied. High resolution cytogenetics was performed on all probands. Molecular studies, performed on the proband and both parents in each case, utilised multiple p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::159fada458c32fab7561d7a5bba59ace
https://pubmed.ncbi.nlm.nih.gov/7618904
https://pubmed.ncbi.nlm.nih.gov/7618904
Autor:
Susan L. Christian, Ronald J. Trent, David H. Ledbetter, T. Woodage, Arabella Smith, Robert Smart, Z. M. Deng, Madhuri Prasad, Robert Lindeman, Lisa Robson
Publikováno v:
American journal of medical genetics. 54(3)
An extensive set of chromosome 15 DNA polymorphisms and densitometric analysis with four markers mapping to the Prader-Willi chromosome region (PWCR) of chromosome 15 have been used to characterize a cohort of 30 subjects with classical Prader-Willi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f78f0a69342d1c15933135205a1a3f0
https://pubmed.ncbi.nlm.nih.gov/7810579
https://pubmed.ncbi.nlm.nih.gov/7810579
Autor:
Stephen B. Fox, Susan Weston, Jenny Hughes, Stephen Jolles, Richard Jaworski, Madhuri Prasad, Steven Kossard, Elizabeth M. Benson, Bruce Bennetts, Rudy I. Angulo
Publikováno v:
Scopus-Elsevier
Although detection of a clonal sequence of the heavy chain gene of immunoglobulin by the polymerase chain reaction (PCR) is frequently used to assess lymphoid infiltrates in skin biopsy specimens, there are no data on the sensitivity and specificity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbde2384e86e05594bbae3cc1c3cded
http://www.scopus.com/inward/record.url?eid=2-s2.0-0034998077&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0034998077&partnerID=MN8TOARS
