Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Kent E. Opheim"'
Autor:
Michael E. Talkowski, Blake C. Ballif, Roger A. Schultz, Patricia I. Bader, Susan Sell, Zheng Fan, James F. Gusella, Debra J Keelean-Fuller, Suneeta Madan-Khetarpal, Loren Mackay-Loder, Deborah Terespolsky, Urvashi Surti, Jill Pouncey, Santhosh Girirajan, Marilyn C. Jones, Bénédicte Héron‐Longe, Ian Blumenthal, Kenneth N. Rosenbaum, Maria Descartes, Jill A. Rosenfeld, Cynthia C. Morton, Evan E. Eichler, Gwen M. Glew, Alain Verloes, Amy Shealy, Sandrine Passemard, Brigitte Benzacken, Cathy A. Stevens, Eva Pipiras, Nicholas J. Neill, Roger L. Ladda, Rocio Moran, Lisa G. Shaffer, John B. Moeschler, Allen N. Lamb, Judith A. Martin, Stephanie E. Vallee, Kent E. Opheim, Juliann Mcconnell, Bertrand Isidor, Andrée Delahaye, Cédric Le Caignec, Shawnia Ryan
Publikováno v:
Human Mutation. 33:728-740
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d6ce34aa6fb60ead0a602f177b7a93
https://doi.org/10.1002/humu.22037
https://doi.org/10.1002/humu.22037
Autor:
Kent E. Opheim, Melissa A. Parisi, Elizabeth McCauley, Richard E. Grady, Michael C. Carr, Mark W. Burns, Catherine Pihoker, Michael R. Soules, Roberta A Pagon, Michael E. Mitchell, Gail E. Richards, Daniel F. Gunther, Gadi B Kletter, Linda A. Ramsdell
Publikováno v:
Genetics in Medicine. 9:348-357
Purpose: To describe a Gender Assessment Team that has provided a multidisciplinary approach to the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of patients with ambiguous genitalia, intersex disorders, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ba0650dfab5e97a7ed11ee250b4ff42
https://doi.org/10.1097/gim.0b013e3180653c47
https://doi.org/10.1097/gim.0b013e3180653c47
Autor:
Michael E. Mitchell, Dale R. Nyholt, Vivienne Souter, Daniel F. Gunther, Raj P. Kapur, Ian A. Glass, Anjali K. Henders, Kent E. Opheim, Grant W. Montgomery, Melissa A. Parisi
Publikováno v:
Human Genetics. 121:179-185
Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735-743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a5ad3479d5063aedb688319e2ea2e67
https://doi.org/10.1007/s00439-006-0279-x
https://doi.org/10.1007/s00439-006-0279-x
Autor:
Karen D. Tsuchiya, Kent E. Opheim
Publikováno v:
Journal of Histotechnology. 27:259-264
Chromosomal abnormalities are a frequent cause of pediatric disorders, including rnental retardation, malformation tion syndromes and neoplasia. Many of these chromosomal abnormalities can be detected with a standard kasyotype, although some alterati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a09b836068e238e2b96065634806a04
https://doi.org/10.1179/his.2004.27.4.259
https://doi.org/10.1179/his.2004.27.4.259
Autor:
Donna L. Johnston, Soheil Meshinchi, Irwin D. Bernstein, Beverly J. Lange, James H. Feusner, Kent E. Opheim, William G. Woods, Maria G. Pallavicini, Jerald P. Radich
Publikováno v:
British Journal of Haematology. 123:431-435
Summary. In acute myeloid leukaemia (AML), involvement of early progenitor cells may predict poor response to induction chemotherapy. We evaluated the involvement of early progenitor cells in two AML subtypes with a favourable prognosis [t(8;21) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b19dca42caf67b1d5862f07bed774e78
https://doi.org/10.1046/j.1365-2141.2003.04633.x
https://doi.org/10.1046/j.1365-2141.2003.04633.x
Autor:
David Myerson, Thomas R. Easterling, Laurence E. Shields, Raj P. Kapur, Ian A. Glass, Kent E. Opheim, Kristen J. Skogerboe, Carl C. Ton, Vivienne Souter, Grant W. Montgomery, Dale R. Nyholt
Publikováno v:
New England Journal of Medicine. 349:154-158
It is generally accepted that monochorionic twins are exclusively monozygotic. The authors report a case of monochorionic twins of different sexes, conceived by in vitro fertilization, who proved to be dizygous.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3769e6bb91b523fac9d2a0f82567d7c
https://doi.org/10.1056/nejmoa030050
https://doi.org/10.1056/nejmoa030050
Autor:
Vivienne Souter, Kent E. Opheim, Michael L. Raff, D. B. Chapman, Ian A. Glass, C. M. Disteche, Melissa A. Parisi
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 21:609-615
We report two cases of multiple fetal anomalies detected by prenatal ultrasound and associated with subtle subtelomeric chromosomal rearrangements. The first case presented at 25 weeks of gestation with an enlarged cisterna magna and ventriculomegaly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac3b43c656bab40f047cd1103c9c2c91
https://doi.org/10.1002/uog.112
https://doi.org/10.1002/uog.112
Publikováno v:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 17(2)
Recurrent genetic alterations found in hepatic mesenchymal hamartoma include either androgenetic-biparental mosaicism or chromosomal rearrangements involving chromosome 19q13.4, in the vicinity of the chromosome 19q microRNA cluster ( C19MC). Abnorma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdd6f55ddbe2d18ee226a94e009f79a
https://pubmed.ncbi.nlm.nih.gov/24555441
https://pubmed.ncbi.nlm.nih.gov/24555441
Autor:
Dennis P O'Malley, Todd S. Barry, Douglas B. Chapman, Ernest U. Conrad, Thomas H. Norwood, Kent E. Opheim, Mary J. Emond
Publikováno v:
Cancer Genetics and Cytogenetics. 124:105-111
The chromosome abnormalities observed in a dedifferentiated chondrosarcoma are reported. A new molecular cytogenetic technique, spectral karyotyping, was used to identify and confirm structural rearrangements in this case. A review of the literature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b857352cea92bac17be4efc79106c897
https://doi.org/10.1016/s0165-4608(00)00335-6
https://doi.org/10.1016/s0165-4608(00)00335-6
Publikováno v:
American Journal of Medical Genetics. 93:273-277
We report on a familial cryptic (20;21) translocation [(t20;21)] that was initially suspected with the observation of a single chromosome 21 specific signal in an interphase nuclei by in situ hybridization (FISH) study performed on a 34-week gestatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f1027a43e0032c6079d67196a1c9954
https://doi.org/10.1002/1096-8628(20000814)93:4<273::aid-ajmg4>3.0.co
https://doi.org/10.1002/1096-8628(20000814)93:4<273::aid-ajmg4>3.0.co