Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Constance K. Stein"'
Autor:
Robert Roger Lebel, Kathryn E. Singh, Rebecca L. Puckett, Jordana L. Gilman, Heather A. Newman, David K. Morohashi, Rebecca Freeman, Kathryn Palomino, Constance K. Stein, Virginia Kimonis
Publikováno v:
American Journal of Medical Genetics Part A. 173:1663-1667
Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1661770b4a7ff40673e8a2771db85c5d
https://doi.org/10.1002/ajmg.a.38204
https://doi.org/10.1002/ajmg.a.38204
Autor:
Karen A Galvan, Gustavo de la Roza, Constance K. Stein, Abdul-Kader Souid, Fang-Ming Deng, Shengle Zhang
Publikováno v:
Cancer Genetics. 204:423-429
We report a soft tissue sarcoma from the thigh with morphologic features resembling Ewing sarcoma, clear cell sarcoma, and myoepithelial tumor of soft tissue. In addition, the genetic and immunohistochemical findings do not correspond to any establis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb173a1236005068bc968d0ceb19242
https://doi.org/10.1016/j.cancergen.2011.05.006
https://doi.org/10.1016/j.cancergen.2011.05.006
Autor:
Alicia K. Bair, Neerja Vajpayee, Syed Mehdi, Thomas Coyle, Jonathan Wright, Constance K. Stein
Publikováno v:
American Journal of Hematology. 78:256-260
Valproic acid has been previously associated with hematologic toxicity, including a reversible myelodysplasia-like syndrome without chromosomal abnormalities. We now report three cases of acute leukemia with features of secondary leukemia associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee4ddbf313d3e480f22e68da0594507e
https://doi.org/10.1002/ajh.20273
https://doi.org/10.1002/ajh.20273
Publikováno v:
Clinical Genetics. 66:537-544
A minority of the reported cases of terminal 2q37 deletion clinically resemble Albright hereditary osteodystrophy (AHO)/pseudopseudohypoparathyroidism and have only mild-to-moderate mental retardation. Our molecular and cytogenetic fluorescence in si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b41e551705e14c8df347ea0d7943ecc
https://doi.org/10.1111/j.1399-0004.2004.00363.x
https://doi.org/10.1111/j.1399-0004.2004.00363.x
Autor:
Joe J. Hoo, Constance K. Stein
Publikováno v:
American Journal of Medical Genetics Part A. :903-905
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c87213caab8f6d46e834b4cdd67e244
https://doi.org/10.1002/ajmg.a.31646
https://doi.org/10.1002/ajmg.a.31646
Autor:
Constance K. Stein
Publikováno v:
Somatic Cell and Molecular Genetics. 24:191-195
Giemsa-11 or G-11 is a specialized staining technique utilized to (1) differentiate heterochromatic regions of human chromosomes, (2) identify the presence of human chromosomes in human-rodent hybrid cells, and (3) identify human-rodent translocation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d6cc7e3d21d2b2e9493747d1c68726
https://doi.org/10.1023/b:scam.0000007121.10809.0d
https://doi.org/10.1023/b:scam.0000007121.10809.0d
Autor:
Naif Z. Abraham, Yoshihiro Ashihara, Katalin Banki, Sylva Bem, Jonathan Ben-Ezra, Martin H. Bluth, Jay L. Bock, Dorota Borawski, Michael J. Borowitz, Wilbur B. Bowne, Paul W. Brandt-Rauf, David J. Bylund, Donghong Cai, Robert P. Carty, Laura Cooling, Michael Costello, Ann C. Croft, David R. Czuchlewski, Robertson D. Davenport, Julio C. Delgado, Thomas J. Dilts, Theresa Downs, M. Tarek Elghetany, Omar R. Fagoaga, Amal F. Farag, Maly Fenelus, Andrea Ferreira-Gonzalez, Louis M. Fink, Thomas R. Fritsche, Susan S. Graham, Frank G. Gress, Wayne W. Grody, Helena A. Guber, Geraldine S. Hall, Charles E. Hill, Henry A. Homburger, Charlene A. Hubbell, M. Mahmood Hussain, Robert E. Hutchison, Peter C. Iwen, Shilpa Jain, Jeffrey S. Jhang, Joby Josekutty, Donald S. Karcher, Yasushi Kasahara, Mukhtar I. Khan, Michael J. Klein, Katrin M. Klemm, Alexander Kratz, Anthony S. Kurec, Richard S. Larson, P. Rocco LaSala, Peng Lee, Jing Li, Mark S. Lifshitz, Ronald Mageau, Richard A. Marlar, H. Davis Massey, Sharad C. Mathur, Rex M. McCallum, Richard A. McPherson, W. Greg Miller, Jonathan L. Miller, Paul D. Mintz, Robert M. Nakamura, Frederick S. Nolte, Man S. Oh, Matthew R. Pincus, Margaret A. Piper, Herbert F. Polesky, A. Koneti Rao, Roger S. Riley, Rhonda K. Roby, Lazaro Rosales, Susan D. Roseff, Ralph Rossi, Linda M. Sabatini, Martin J. Salwen, Kimberly W. Sanford, Katherine I. Schexneider, Alvin H. Schmaier, Rangaraj Selvarangan, Ankoor Shah, Haseeb A. Siddiqi, Anthony N. Sireci, Michael B. Smith, James Soh, Constance K. Stein, Martin Steinau, Robert L. Sunheimer, Gregory A. Threatte, Philip M. Tierno, Paul Tranchida, Elizabeth R. Unger, Neerja Vajpayee, David S. Viswanatha, Carlos Alberto von Mühlen, David H. Walker, Ruth S. Weinstock, David S. Wilkinson, Jeffrey L. Winters, Brent L. Wood, Gail L. Woods, William Woolf, Ruliang Xu, Margaret Yungbluth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::133ae07a72db982b130cd168ffaa2bbf
https://doi.org/10.1016/b978-1-4377-0974-2.00084-1
https://doi.org/10.1016/b978-1-4377-0974-2.00084-1
Autor:
Constance K. Stein
Publikováno v:
Henry's Clinical Diagnosis and Management by Laboratory Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22e76a0fb51986864fc116b5e1e8a7a0
https://doi.org/10.1016/b978-1-4377-0974-2.00068-3
https://doi.org/10.1016/b978-1-4377-0974-2.00068-3
Publikováno v:
Cancer genetics and cytogenetics. 201(1)
From a morphologic standpoint, Ewing sarcoma (EWS) is one of a number of pediatric malignancies that are characterized by sheets of small, round, blue cells. Ewing sarcoma can usually be differentiated from other small round blue cell tumors by the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2071a0e7429485857cfad819b736fc64
https://pubmed.ncbi.nlm.nih.gov/20633761
https://pubmed.ncbi.nlm.nih.gov/20633761
Publikováno v:
Genes, chromosomescancer. 34(3)
Cytogenetic deletions and/or loss of heterozygosity (LOH) of the short arm of chromosome 3, often with a break at 3p14, are well documented in lung tumors. The coincidence of a chromosomal fragile site, FRA3B, at a common chromosomal breakpoint in lu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75c7a64d2df4d5ee5eca8d1995753f4
https://pubmed.ncbi.nlm.nih.gov/12007194
https://pubmed.ncbi.nlm.nih.gov/12007194