Zobrazeno 1 - 10
of 67
pro vyhledávání: '"John P. Dorst"'
Autor:
Cynthia J. Curry, William R. Wilcox, Clair A. Francomano, Kelly A. Przylepa, John P. Dorst, David L. Rimoin, Gary A. Bellus, Michael J. Bamshad, Ralph S. Lachman, Orest Hurko, Roland R. Lee, Ethylin Wang Jabs
Publikováno v:
American Journal of Medical Genetics. 85:53-65
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::097665bd1dce5cd248f65d6571f7e024
https://doi.org/10.1002/(sici)1096-8628(19990702)85:1<53::aid-ajmg10>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990702)85:1<53::aid-ajmg10>3.0.co
Publikováno v:
American Journal of Roentgenology. 121:559-564
Five cases of congenital subclavian steal demonstrated by angiography are reported.The anatomy, hemodynamics, clinical findings and angiographic features are reviewed.Ischemic symptoms are infrequently present in infants and children and most cases a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf423ba04496d37761c50592bdd6d9a
https://doi.org/10.2214/ajr.121.3.559
https://doi.org/10.2214/ajr.121.3.559
Publikováno v:
The Journal of Pediatrics. 90:230-235
Three patients with postaxial polydactyly and other abnormalities of the hands and feet, hypoplasia and fusion of the vertebral bodies, and dental abnormalities are reported. Two were sisters born to normal unrelated parents; the other patient was th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80def0d3e07f1c8cc8ac33744ca26aa9
https://doi.org/10.1016/s0022-3476(77)80635-5
https://doi.org/10.1016/s0022-3476(77)80635-5
Autor:
Roshen N. Irani, Reed E. Pyeritz, Guerdon Greenway, John M. Wright, John P. Dorst, D. Lamar Byrd, John M. Opitz, C. L. Laspia, James F. Reynolds, L. Stefan Levin, Richard J. Young
Publikováno v:
American Journal of Medical Genetics. 21:257-269
Thirteen individuals with osteogenesis imperfecta (OI) from three families were evaluated. All examined persons with OI had multilocular radiolucent, radiopaque, or radiolucent-radiopaque lesions of the maxilla and mandible. In most patients, the les
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0eb3ee5e1ef0fc54ef3b5a497672b40
https://doi.org/10.1002/ajmg.1320210207
https://doi.org/10.1002/ajmg.1320210207
Autor:
John P. Dorst, David L. Rimoin, K. Toomey, John M. Opitz, C. E. Anderson, M. Bull, Ralph S. Lachman, David Sillence
Publikováno v:
American Journal of Medical Genetics. 13:243-256
The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro-osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d5fe0b050a2d5d3f996614f77a7f06
https://doi.org/10.1002/ajmg.1320130304
https://doi.org/10.1002/ajmg.1320130304
Autor:
Phillip Goldstein, Gregory S. Barsh, John A. Phillips, L. Stefan Levin, Karen A. Holbrook, John P. Dorst, Peter H. Byers, Julie E. Shapiro, Roge Sanders, Karen E. Peterson
Publikováno v:
The Journal of Pediatrics. 100:127-133
The fetus of a couple at risk for recurrence of lethal perinatal osteogenesis imperfecta (OI Type II) was studied using ultrasonography, radiographs, analysis of procollagen synthesis in amniotic fluid cells, and ultrastructural studies of fetal derm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2307b18e57e0e45bd0c7f404985f7b1
https://doi.org/10.1016/s0022-3476(82)80252-7
https://doi.org/10.1016/s0022-3476(82)80252-7
Publikováno v:
The Journal of Pediatrics. 94:823-827
Long-term, low-dosage androgen treatment of patients with Turner syndrome results in more rapid growth and significantly greater adult height than in control patients who receive only estrogen for pubertal development. Seventeen patients treated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ed7202acd67822081f5131d9978686
https://doi.org/10.1016/s0022-3476(79)80170-5
https://doi.org/10.1016/s0022-3476(79)80170-5
Autor:
John P. Dorst, K. D. Eggli
Publikováno v:
Seminars in Roentgenology. 21:275-294
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dcf8a8317abc0242d4e9afee0327d02
https://doi.org/10.1016/0037-198x(86)90039-8
https://doi.org/10.1016/0037-198x(86)90039-8
Autor:
Antonio G. Galvis, Sheldon B. Bearman, John P. Dorst, Richard M. Heller, Frederick P. Stitik, Kook Sang Oh
Publikováno v:
Radiology. 110:627-630
Chest films of patients on continuous positive-pressure breathing (CPPB) occasionally prove difficult to interpret. Diaphragmatic paralysis may be masked, and lobar atelectasis may present with confusing findings. If the radiologist is not aware that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::344a9d410a57c1f087663215f3d3a84d
https://doi.org/10.1148/110.3.627
https://doi.org/10.1148/110.3.627
Autor:
Edward M. Rissman, John G. Rogers, Rodney K. Beals, Leslie A. Bard, Irene L. Solomon, John M. Opitz, Penny A. Bard, John P. Dorst, Judith G. Hall, Leonard O. Langer, E. A. Franken, Robert S. Sparkes
Publikováno v:
American Journal of Medical Genetics. 1:87-100
Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other lon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7720275c2eb3d4a76e03d7b308a11777
https://doi.org/10.1002/ajmg.1320010110
https://doi.org/10.1002/ajmg.1320010110