Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Elizabeth M. Cherniske"'
Autor:
Cheryl Klaiman, Thomas O. Carpenter, Eytan Young, Elizabeth M. Cherniske, Karl L. Insogna, Robert T. Schultz, Barbara R. Pober, Joel D. Bregman
Publikováno v:
American Journal of Medical Genetics. :255-264
To address the natural history of Williams syndrome (WS), we performed multisystem assessments on 20 adults with WS over 30 years of age and documented a high frequency of problems in multiple organ systems. The most striking and consistent findings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aec65795f14ff4933187bb8ccd4cdad1
https://doi.org/10.1002/ajmg.a.30400
https://doi.org/10.1002/ajmg.a.30400
Autor:
Barbara R. Pober, David N. Finegold, Mark A. Kimak, Elizabeth C. Lawrence, Kara L. Levinson, Jean W. Dunlap, Elizabeth M. Cherniske, Robert E. Ferrell
Publikováno v:
Human Molecular Genetics. 10:1185-1189
Hereditary lymphedemas are developmental disorders of the lymphatics resulting in edema of the extremities due to altered lymphatic flow. One such disorder, the lymphedema-distichiasis syndrome, has been reported to be caused by mutations in the fork
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90967463fbd04b878fb22d4ee74f8403
https://doi.org/10.1093/hmg/10.11.1185
https://doi.org/10.1093/hmg/10.11.1185
Autor:
Kimberly Q. McKinney, Takeshi Sasaki, Ann R. Salvino, Peter Heydemann, Oksana Suchowersky, Jerry R. Mendell, David A. Simpson, J. Edward Spence, Carol A. Crowe, Cheryl R. Greenberg, Basil T. Darras, Carla Grosmann, Frederick Shapiro, Robert W. Lanning, Elizabeth M. Cherniske, Charlotte A. Brown, Barbara R. Pober, Stasha Gominak
Publikováno v:
American Journal of Medical Genetics. 102:359-367
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by slowly progressive muscle wasting and weakness; early contractures of the elbows, Achilles tendons, and spine; and cardiomyopathy associated with cardiac conduction defects. Clinically indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae4620f12774db42b4b60b7f0e8da61
https://doi.org/10.1002/ajmg.1463
https://doi.org/10.1002/ajmg.1463
Autor:
Fuki M. Hisama, Georgirene D. Vladutiu, Barbara R. Pober, Sharon Zemel, Elizabeth M. Cherniske
Publikováno v:
American Journal of Medical Genetics. 98:121-124
Gonadal (ovarian) dysgenesis in 46,XX individuals is genetically heterogeneous. We report on two sisters who, in addition to primary ovarian failure, have marked short stature and recurrent episodes of dehydration with metabolic acidosis. Studies per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a748b2de8d4d2b04bcd35b96c322dfd
https://doi.org/10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co
https://doi.org/10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co
Publikováno v:
American journal of medical genetics. Part A. (3)
Healthcare providers often share difficult or life-altering news with their patients yet this challenging and delicate process is frequently met with dissatisfaction by those receiving this news. Articles and guidelines exist to aid providers in shar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad6f04a3bd4f8b235e27d45ae907472e
https://pubmed.ncbi.nlm.nih.gov/23401422
https://pubmed.ncbi.nlm.nih.gov/23401422
Autor:
Dana Schwartz, Thomas O. Carpenter, Elizabeth M. Cherniske, Laurie S. Sadler, Barbara R. Pober
Publikováno v:
Clinical Dysmorphology. 5:117
Pubertal development was evaluated in nine males and 16 females with Williams syndrome (WS). Our results indicate that puberty in WS occurred earlier than in published population controls; specifically, 90% of menstruating females reached menarche an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f46ffc6920dc1f20af64792847f93e7
https://doi.org/10.1097/00019605-199904000-00006
https://doi.org/10.1097/00019605-199904000-00006
Autor:
Jon J. Jonsson, Elizabeth M. Cherniske, Andrea Ballabio, Mirella Bruttini, Monica Piccini, Clifford E. Kashtan, Patrick G. Gallagher, Francesca Vitelli, Alessandra Renieri, Barbara R. Pober
Publikováno v:
Scopus-Elsevier
We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with mar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc652e286a67f702161a7eb3fe4f30b
http://www.scopus.com/inward/record.url?eid=2-s2.0-17344373749&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-17344373749&partnerID=MN8TOARS
