Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Scott D. Mclean"'
Autor:
Veronica Ortega, Raymond J. Louie, Melanie A. Jones, Alka Chaubey, Barbara R. DuPont, Allison Britt, Joseph Ray, Scott D. McLean, Rebecca O. Littlejohn, Gopalrao Velagaleti
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such chromosomes or chromosome regions a
Externí odkaz:
https://doaj.org/article/c10179847733425b8acf44e7b6761983
Publikováno v:
Agronomía Mesoamericana, Vol 9, Iss 2 (2016)
Se identificaron doce líneas con mazorca larga y doce líneas con mazorca gruesa. Las cruzas simples fueron evaluadas bajo un diseño de látice simple 12 x 12 en cinco ambientes duran-te 1995. Estimaciones de aptitud combinatoria general (ACG) y es
Externí odkaz:
https://doaj.org/article/ab468849d5444277990631731b6f54fb
Autor:
Elizabeth Roof, Cheri L Deal, Shawn E McCandless, Ronald L Cowan, Jennifer L Miller, Jill K Hamilton, Elizabeth R Roeder, Shana E McCormack, Tamanna R Roshan Lal, Hussein D Abdul-Latif, Andrea M Haqq, Kathryn S Obrynba, Laura C Torchen, Alaina P Vidmar, David H Viskochil, Jean-Pierre Chanoine, Carol K L Lam, Melinda J Pierce, Laurel L Williams, Lynne M Bird, Merlin G Butler, Diane E Jensen, Susan E Myers, Oliver J Oatman, Charumathi Baskaran, Laura J Chalmers, Cary Fu, Nathalie Alos, Scott D McLean, Ajay Shah, Barbara Y Whitman, Brent A Blumenstein, Sarah F Leonard, Jessica P Ernest, Joseph W Cormier, Sara P Cotter, Davis C Ryman
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
Context Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by endocrine and neuropsychiatric problems including hyperphagia, anxiousness, and distress. Intranasal carbetocin, an oxytocin analog, was investigated as a selective oxyto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40931114e5833e6e552c8b0c9d0399d7
https://doi.org/10.1210/clinem/dgad015
https://doi.org/10.1210/clinem/dgad015
Autor:
Anna Lehman, Christina T. Rüsch, Angela F. Brady, Julie S. Cohen, Millan S. Patel, Rani Sachdev, Usha Kini, Elizabeth E. Palmer, Reza Maroofian, Sonal Mahida, Karen Stals, Roger L. Ladda, Yoshiko Murakami, Camille Tremblay-Laganière, Tahsin Stefan Barakat, Scott D. McLean, Fizza Akbar, Marilena Christoforou, Farah Ashrafzadeh, Melissa A. Walker, Grazia M.S. Mancini, Salman Kirmani, Kimberly Nugent, Philippe M. Campeau, Fatima Y. Ismail, Amanda Nagy, Sian Ellard, Stephanie Efthymiou, Bushra Afroze, Rebecca Macintosh, Saskia B. Wortmann, Danilo Bernardo, Rebecca Truty, Matias Wagner, Shahnaz Ibrahim, Tipu Sultan, Kristin W. Barañano, Stylianos E. Antonarakis, Yuta Maki, Thi Tuyet Mai Nguyen, Henry Houlden, Robert Steinfeld, Saadet Mercimek-Andrews, Taroh Kinoshita, Georg M. Stettner, Andrew C. Edmondson, Naila Ismayilova, Meisam Babaei, Heather M. McLaughlin, Mohammad Doosti, Ehsan Ghayoor Karimiani
Publikováno v:
Genet. Med. 23, 1873-1881 (2021)
Genetics in Medicine, 23(10), 1873-1881. Lippincott Williams & Wilkins
Genet Med
Genetics in Medicine, 23(10), 1873-1881. Lippincott Williams & Wilkins
Genet Med
Purpose Phosphatidylinositol Glycan Anchor Biosynthesis, class G (PIGG) is an ethanolamine phosphate transferase catalyzing the modification of glycosylphosphatidylinositol (GPI). GPI serves as an anchor on the cell membrane for surface proteins call
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5f57c55009acbb5383a3912c376674c
https://doi.org/10.1038/s41436-021-01215-9
https://doi.org/10.1038/s41436-021-01215-9
Autor:
Jeremy M. Schraw, Renata H. Benjamin, Charles J. Shumate, Mark A. Canfield, Daryl A. Scott, Scott D. McLean, Hope Northrup, Angela E. Scheuerle, Christian P. Schaaf, Joseph W. Ray, Han Chen, A. J. Agopian, Philip J. Lupo
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Many infants with anotia or microtia (A/M) have co-occurring birth defects, although few receive syndromic diagnoses in the perinatal period. Evaluation of co-occurring birth defects in children with A/M could identify patterns indicative of undiagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06ad71111d98a11aeb5114466421b9c4
https://pubmed.ncbi.nlm.nih.gov/36541232
https://pubmed.ncbi.nlm.nih.gov/36541232
Autor:
Christian P. Schaaf, Omobola O. Oluwafemi, Scott D. McLean, Katherine L. Ludorf, Joseph W. Ray, Mark A. Canfield, Laura E. Mitchell, Han Chen, Michael D. Swartz, Angela E. Scheuerle, Peter H. Langlois, Renata H. Benjamin, Hope Northrup, A. J. Agopian, Daryl A. Scott, Philip J. Lupo, Maria Luisa Navarro Sanchez
Publikováno v:
Am J Med Genet A
Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed comple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d8cd78bb46120d7308b6deb9d6f993c
https://doi.org/10.1002/ajmg.a.61830
https://doi.org/10.1002/ajmg.a.61830
Autor:
Allison D. Britt, Barbara R. DuPont, Alka Chaubey, Rebecca O. Littlejohn, Gopalrao V.N. Velagaleti, Melanie A. Jones, Veronica Ortega, Raymond J. Louie, Joseph W. Ray, Scott D. McLean
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
Background Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such chromosomes or chromosome regions are known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ebc7836fd2ac32ea091f70a3b6fbe27
https://pubmed.ncbi.nlm.nih.gov/34261519
https://pubmed.ncbi.nlm.nih.gov/34261519
Autor:
Han Chen, Mark A. Canfield, Philip J. Lupo, Renata H. Benjamin, A. J. Agopian, Angela E. Scheuerle, Daryl A. Scott, Michael D. Swartz, Peter H. Langlois, Maria Luisa Navarro Sanchez, Scott D. McLean, Hope Northrup, Joseph W. Ray, Christian P. Schaaf, Laura E. Mitchell
Publikováno v:
Cleft Palate Craniofac J
Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. Design: We used data from the Texas Birth Defects Registry for deliveries between 1999 and 2014 to Texas residen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d3909b38af728fe8111332b24378bb
https://europepmc.org/articles/PMC8954502/
https://europepmc.org/articles/PMC8954502/
Autor:
Angela E. Scheuerle, Peter H. Langlois, Hope Northrup, Han Chen, Mark A. Canfield, A. J. Agopian, Renata H. Benjamin, Christian P. Schaaf, Joseph W. Ray, Katherine L. Ludorf, Maria Luisa Navarro Sanchez, Michael D. Swartz, Diego Diaz, Daryl A. Scott, Laura E. Mitchell, Scott D. McLean, Philip J. Lupo
Publikováno v:
Am J Med Genet A
Few population-based studies have analyzed patterns of co-occurring birth defects among those with trisomy 13. We evaluated the frequency of all possible combinations of any one, two, three, or four additional co-occurring birth defects among 736 ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14bcce8948d6d5592750cc08cf6e299e
https://doi.org/10.1002/ajmg.a.62175
https://doi.org/10.1002/ajmg.a.62175
Autor:
Philip J. Lupo, Hope Northrup, Christian P. Schaaf, Brian P. Brooks, Angela E. Scheuerle, Robert B. Hufnagel, Peter H. Langlois, Scott D. McLean, Joseph W. Ray, Laura E. Mitchell, Mark A. Canfield, A. J. Agopian, Daryl A. Scott, Jeremy M. Schraw, Michael D. Swartz, Han Chen, Renata H. Benjamin
Publikováno v:
Ophthalmic Epidemiol
PURPOSE: Infants with anophthalmia or microphthalmia frequently have co-occurring birth defects. Nonetheless, there have been few investigations of birth defects patterns among these children. Such studies may identify novel multiple malformation syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d806b0d2ec15730a220aa2fc45b110
https://pubmed.ncbi.nlm.nih.gov/33345678
https://pubmed.ncbi.nlm.nih.gov/33345678