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pro vyhledávání: '"Powell, C M"'
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Autor:
Zarate, Y. A., Steinraths, M., Matthews, A., Smith, W. E., Sun, A., Wilson, L. C., Brain, C., Allgove, J., Jacobs, B., Fish, J. L., Powell, C. M., Wasserman, W. W., van Karnebeek, C. D., Wakeling, E. L., Ma, N. S.
Publikováno v:
Clinical genetics, 93(3), 588-594. Wiley-Blackwell
SATB2-associated syndrome (SAS) is a rare disorder caused by alterations in the special AT-rich sequence-binding protein 2 (SATB2). Skeletal abnormalities such as tibial bowing, osteomalacia, osteopenia or osteoporosis have been reported suggesting a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::fd759c15c50f3724097163395fd471dd
https://pure.amc.nl/en/publications/bone-health-and-satb2associated-syndrome(2fbb1fb4-29ec-4e91-8d77-250d7da4a920).html
https://pure.amc.nl/en/publications/bone-health-and-satb2associated-syndrome(2fbb1fb4-29ec-4e91-8d77-250d7da4a920).html
Autor:
Powell, C. M.
Publikováno v:
The British Medical Journal, 1897 Oct . 2(1920), 1086-1087.
Externí odkaz:
https://www.jstor.org/stable/20251684
Publikováno v:
The British Medical Journal, 1888 Apr . 1(1426), 902-904.
Externí odkaz:
https://www.jstor.org/stable/20215234
Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns.
Autor:
Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Omorodion JO; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Del Rosario MC; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Graduate Medical Sciences, Boston University, Boston, Massachusetts, USA., Rivera-Cruz G; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford School of Medicine, Stanford, California, USA., Hsu CY; Harvard Medical School Center for Bioethics, Boston, Massachusetts, USA.; University of California San Diego School of Medicine, La Jolla, California, USA., Ziniel SI; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; Section of Pediatric Hospital Medicine, Children's Hospital Colorado, Aurora, Colorado, USA., Holm IA; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Publikováno v:
Journal of genetic counseling [J Genet Couns] 2024 Oct 28. Date of Electronic Publication: 2024 Oct 28.
Autor:
Dingwall R; The Florey Institute of Neuroscience and Mental Health, Parkville, Melbourne, Victoria, Australia.; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia., May C; The Florey Institute of Neuroscience and Mental Health, Parkville, Melbourne, Victoria, Australia., Letschert J; The Florey Institute of Neuroscience and Mental Health, Parkville, Melbourne, Victoria, Australia., Renoir T; The Florey Institute of Neuroscience and Mental Health, Parkville, Melbourne, Victoria, Australia.; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia., Hannan AJ; The Florey Institute of Neuroscience and Mental Health, Parkville, Melbourne, Victoria, Australia.; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia., Burrows EL; The Florey Institute of Neuroscience and Mental Health, Parkville, Melbourne, Victoria, Australia.
Publikováno v:
Journal of neurochemistry [J Neurochem] 2024 Sep; Vol. 168 (9), pp. 2285-2302. Date of Electronic Publication: 2024 Aug 02.
Autor:
Kaushik N; Department of Biotechnology, College of Engineering, The University of Suwon, Hwaseong, 18323, Korea., Jaiswal A; Plasma Bioscience Research Center/Department of Electrical and Biological Physics, Kwangwoon University, Seoul, 01897, Korea., Bhartiya P; Department of Biotechnology, College of Engineering, The University of Suwon, Hwaseong, 18323, Korea., Choi EH; Plasma Bioscience Research Center/Department of Electrical and Biological Physics, Kwangwoon University, Seoul, 01897, Korea. ehchoi@kw.ac.kr., Kaushik NK; Plasma Bioscience Research Center/Department of Electrical and Biological Physics, Kwangwoon University, Seoul, 01897, Korea. kaushik.nagendra@kw.ac.kr.
Publikováno v:
Cancer metastasis reviews [Cancer Metastasis Rev] 2024 Sep; Vol. 43 (3), pp. 959-975. Date of Electronic Publication: 2024 Mar 07.
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
Autor:
Mitchell, E, Skinner, S A, Lin, A E, Hanson, R R, Keelean-Fuller, D, Rogers, R C, Tapp, C, Zou, Y S, DuPont, B, Kearney, H M, Gusella, J F, Chaubey, A, Everman, D B, Talkowski, M E, Hanscom, C, Kirmani, S, Mullegama, S V, Hodge, J C, Pillalamarri, V, Tan, W H, Bartel, F, Powell, C M, Boyd, E, Elsea, S H, Toler, T L, Morton, C C
Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 contribute to a spectrum of neurodevelopmental phenotypes, however the impact of this locus in human psychopathology has not been described. To characterize the structural variation landsc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd3a897fe5b8a4ed04aee70d8feaf30a
Autor:
Wang MG; Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Lancaster K; Department of Pediatrics, University of North Carolina (UNC) School of Medicine, Chapel Hill, North Carolina, USA., Powell CM; Department of Genetics, University of North Carolina (UNC) School of Medicine, Chapel Hill, North Carolina, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63829. Date of Electronic Publication: 2024 Jul 29.
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