Výsledky vyhledávání - "Kristin M. May"

Mammalian Cell Tissue Culture Techniques

Autor: Katy Phelan, Kristin M. May

Publikováno v: Current Protocols in Pharmacology

Cultured tissues and cells are used extensively in physiological and pharmacological studies. In vitro cultures provide a means of examining cells and tissues without the complex interactions that would be present if the whole organism were studied.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da30206c812d83c167f25b11198c4d29
https://doi.org/10.1002/cpmb.31

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Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

Autor: Kristin M. May, Rhonda Spiro, Sara Cooper, Margaret P Adam, Gordana Raca, Christa Lese Martin, Xueya Y. Hauge

Publikováno v: Genetics in Medicine. 10:599-611

Purpose: Deletions of distal 9p are associated with trigonocephaly, mental retardation, dysmorphic facial features, cardiac anomalies, and abnormal genitalia. Previous studies identified a proposed critical region for the consensus phenotype in band

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e9da80f8d4e86c6928d1f04cfff6a4fc
https://doi.org/10.1097/gim.0b013e31817e2bde

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Basic Techniques in Mammalian Cell Tissue Culture

Autor: Kristin M. May, Katy Phelan

Publikováno v: Current Protocols in Cell Biology

Cultured mammalian cells are used extensively in cell biology studies. It requires a number of special skills in order to be able to preserve the structure, function, behavior, and biology of the cells in culture. This unit describes the basic skills

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3baa3748f3b3788ff700a18323aee2e
https://doi.org/10.1002/0471143030.cb0101s66

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A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

Autor: Sonja A. Rasmussen, Karlene Coleman, Lorenzo D. Botto, Robert M. Campbell, Lee Yang Wong, E. Marsha Elixson, Kristin M. May, Leslie A. O'Leary, Adolfo Correa, Paul M. Fernhoff, Robert Merritt, William T. Mahle

Publikováno v: Pediatrics. 112:101-107

Objectives. Although several studies describe the 22q11.2 deletion, population-based data are scant. Such data are needed to evaluate properly the impact, distribution, and clinical presentation of the deletion in the population. Our goals were to as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2b39ae85356cacf612f7a575bcea77
https://doi.org/10.1542/peds.112.1.101

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Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18

Autor: Sonja A. Rasmussen, Quanhe Yang, Jan M. Friedman, Kristin M. May, Lee-Yang C. Wong

Publikováno v: Pediatrics. 111:777-784

Objective. Although trisomy 13 and trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. We sought to evaluate mortality in people with trisomy 13 or 18 using 2 population-based strategies.Methods. In the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8599bf5bed7d31404447970ea847e345
https://doi.org/10.1542/peds.111.4.777

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Campomelic syndrome and deletion of SOX9

Autor: Kristin M. May, Leslie S. Kean, Patricia N. Olney, D Graham, Louis J. Elsas

Publikováno v: American Journal of Medical Genetics. 84:20-24

The human SOX9 gene, located in chromosome region 17q24.1-25.1, encodes a transcription factor involved in chondrogenesis and testis development. Mutations in this gene cause campomelic syndrome (CMPS) with autosomal sex reversal. Here we describe an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c4cb12c3b4e4fc0b4749a39da523313e
https://doi.org/10.1002/(sici)1096-8628(19990507)84:1<20::aid-ajmg5>3.0.co

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Mosaic trisomy 4: Long-term outcome on the first reported liveborn

Autor: Paul M. Fernhoff, Kristin M. May, April N. Brady

Publikováno v: American Journal of Medical Genetics Part A. :411-413

In a previous report, we described the first liveborn with trisomy 4 mosaicism [Marion et al. (1990) Am J Med Genet 37:362-365]. To our knowledge, since our original report, there have been only four additional reports of a prenatal diagnosis of mosa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3df1181d0fd588ca2a2d880fa8362f5
https://doi.org/10.1002/ajmg.a.30339

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