Zobrazeno 1 - 7
of 7
pro vyhledávání: '"P. J. Reitnauer"'
Autor:
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski
Publikováno v:
Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular dia
Externí odkaz:
https://doaj.org/article/b23784000fc94e8fa5337756d5dd9e52
Publikováno v:
North Carolina medical journal. 60(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e8b54672ef57d1ec3f7cabfd50db2156
https://pubmed.ncbi.nlm.nih.gov/10495652
https://pubmed.ncbi.nlm.nih.gov/10495652
Autor:
J G, Gleeson, S R, Minnerath, J W, Fox, K M, Allen, R F, Luo, S E, Hong, M J, Berg, R, Kuzniecky, P J, Reitnauer, R, Borgatti, A P, Mira, R, Guerrini, G L, Holmes, C M, Rooney, S, Berkovic, I, Scheffer, E C, Cooper, S, Ricci, R, Cusmai, T O, Crawford, R, Leroy, E, Andermann, J W, Wheless, W B, Dobyns, C A, Walsh
Publikováno v:
Annals of neurology. 45(2)
Mutations in the X-linked gene doublecortin, which encodes a protein with no dear structural homologues, are found in pedigrees in which affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc3dca58538810b1c021e42d6fc50730
https://pubmed.ncbi.nlm.nih.gov/9989613
https://pubmed.ncbi.nlm.nih.gov/9989613
Publikováno v:
Teratology. 56(6)
Female monozygotic (MZ) twins were discordant for congenital structural anomalies: Twin A had a reduction defect of the right forearm; Twin B had a cleft palate. Both infants were small for gestational age. Specific prenatal exposures were identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::43bda5e4e01a7b1440a9f38bc4196c9a
https://pubmed.ncbi.nlm.nih.gov/9485545
https://pubmed.ncbi.nlm.nih.gov/9485545
Autor:
P J Reitnauer, Nancy C. Chescheir
Publikováno v:
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 13(6)
The objective of this study was to assess the accuracy of prenatal ultrasonography and to identify patterns of fetal malformations. All fetal and neonatal autopsies over a 3 year period were compared to prenatal sonographic findings and comparisons w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa3183da523f9ad0677780e39c105ac6
https://pubmed.ncbi.nlm.nih.gov/8083945
https://pubmed.ncbi.nlm.nih.gov/8083945
Autor:
P. J. Reitnauer, R. C. Go, R. T. Acton, C. C. Murphy, B. Budowle, B. O. Barger, J. M. Roseman
Publikováno v:
Diabetes. 31:532-537
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e64a2529aea6f462b3cd63e3523a15a1
https://doi.org/10.2337/diabetes.31.6.532
https://doi.org/10.2337/diabetes.31.6.532
Publikováno v:
The Journal of Immunology. 131:165-170
The primed lymphocyte test (PLT) was utilized to investigate the biologic relationship between alloantigens and soluble environmental antigens. Human lymphocytes primed in vitro to the soluble antigens Candida (CAN), Tetanus (TET), or Purified Protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5eb68fddc3b378868ec87807793b306c
https://doi.org/10.4049/jimmunol.131.1.165
https://doi.org/10.4049/jimmunol.131.1.165