Zobrazeno 1 - 10
of 17
pro vyhledávání: '"S. R. Panny"'
Autor:
C. Kaye, T. L. Trotter, Jaime L. Frias, J. Williams, H. E. Hoyme, John B. Moeschler, S. Cho, Michele A. Lloyd-Puryear, Christopher Cunniff, Cynthia A. Moore, Franklin Desposito, James W. Hanson, L. Hall, F. De la Cruz, S. R. Panny
Publikováno v:
Pediatrics. 106:1494-1497
Although many types of diagnostic and carrier testing for genetic disorders have been available for decades, the use of molecular methods is a relatively recent phenomenon. Such testing has expanded the range of disorders that can be diagnosed and ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cdc87e3162d2d28aef97cc4337ddeff9
https://doi.org/10.1542/peds.106.6.1494
https://doi.org/10.1542/peds.106.6.1494
Autor:
T H, Beaty, N E, Maestri, J B, Hetmanski, D F, Wyszynski, C A, Vanderkolk, J C, Simpson, I, McIntosh, E A, Smith, J S, Zeiger, G V, Raymond, S R, Panny, C J, Tifft, A F, Lewanda, C A, Cristion, E A, Wulfsberg
Publikováno v:
The Cleft Palate-Craniofacial Journal. 34:447-454
Objective: Infants born in Maryland between June 1992 and June 1996 were used in a case-control study of nonsyndromic oral clefts to test for effects of maternal smoking and a polymorphic genetic marker at the transforming growth factor alpha (TGFA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36ddb80b764d8e742d6c2cef08c38a1
https://doi.org/10.1597/1545-1569_1997_034_0447_tfibms_2.3.co_2
https://doi.org/10.1597/1545-1569_1997_034_0447_tfibms_2.3.co_2
Autor:
Sherman Elias, Franklin Desposito, S. Cho, F. De la Cruz, Jaime L. Frias, Michele A. Lloyd-Puryear, Rebecca S. Wappner, Christopher Cunniff, T. L. Trotter, Cynthia A. Moore, S. R. Panny, James W. Hanson, Beth A. Pletcher
Publikováno v:
Pediatrics. 104:325-327
The American Academy of Pediatrics endorses the US Public Health Service (USPHS) recommendation that all women capable of becoming pregnant consume 400 μg of folic acid daily to prevent neural tube defects (NTDs). Studies have demonstrated that peri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::170c763e40341a81389fd65553e8dbc5
https://doi.org/10.1542/peds.104.2.325
https://doi.org/10.1542/peds.104.2.325
Autor:
M.P.H. Richard S. Olney M.D., Holly L. Howe, Timothy J. Flood, Muin J. Khoury, S. R. Panny, Gary M. Shaw, Pamela Costa, Cynthia A. Moore, Carolyn L. Olsen, Larry D. Edmonds, John Harris, Celan J. Alo
Publikováno v:
Teratology. 51(1)
Although numerous infants have been reported with transverse limb deficiencies after their mothers had undergone chorionic villus sampling (CVS), it has been unclear whether the procedure caused these defects. We report the results of the first multi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f97c31f6f033b6c26f1ed555f5b244f
https://pubmed.ncbi.nlm.nih.gov/7597654
https://pubmed.ncbi.nlm.nih.gov/7597654
Publikováno v:
Public health reports (Washington, D.C. : 1974). 105(6)
Because blood specimens from newborns reflect the antibody status of the mother, seroprevalence rates among childbearing women are obtainable from analysis of the specimens. A blinded survey of human immunodeficiency virus (HIV) antibody seroprevalen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a2b59761a9043945e4db177e33e59680
https://pubmed.ncbi.nlm.nih.gov/2124356
https://pubmed.ncbi.nlm.nih.gov/2124356
Autor:
Chen-Chih J. Sun, Maimon M. Cohen, Stuart Schwartz, Joann Meekins, S. R. Panny, John M. Opitz
Publikováno v:
American Journal of Medical Genetics. 15:141-144
Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter leads to q32:). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q - syndrome, in which patients usually have growth a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7477d3bddea05c9ddd6566e6a36058f3
https://doi.org/10.1002/ajmg.1320150119
https://doi.org/10.1002/ajmg.1320150119
Publikováno v:
Pathology - Research and Practice. 179:101-104
Summary The rare association of hydro ps fetalis with acute neuropathic Gaucher disease, diagnosed at autopsy, is described. Mechanisms for the fetal edema in this case are discussed. Unusual medial calcification of the aorta was present; and althoug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ec755e394d54d4fc4329e2a778bcaa
https://doi.org/10.1016/s0344-0338(84)80069-2
https://doi.org/10.1016/s0344-0338(84)80069-2
Publikováno v:
American Journal of Medical Genetics. 20:255-263
A deletion of the long arm of chromosome 15 (usually involving bands 15q11-q12) has been seen in approximately 50% of Prader-Willi syndrome (PWS) patients [Ledbetter et al, 1982]. However, 14 patients with non-PWS (or atypical PWS) phenotype with 15q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9362ae3b3b456f2e16ba2334433aa97
https://doi.org/10.1002/ajmg.1320200208
https://doi.org/10.1002/ajmg.1320200208
Publikováno v:
Clinical genetics. 27(2)
A 10-month-old infant with failure to thrive, delayed development, mild dysmorphia, cardiac anomalies, and cryptorchidism was referred for cytogenetic evaluation. Routine GTG-banded analysis revealed a modal number of 46 chromosomes, which contained
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ebe1444854983fb20417f6393bb78d5
https://pubmed.ncbi.nlm.nih.gov/3872186
https://pubmed.ncbi.nlm.nih.gov/3872186
Publikováno v:
Journal of clinical epidemiology. 41(1)
Although most teratogens are suspected to act early in the first trimester of pregnancy, birth defects monitoring programs and etiologic studies usually use residence at birth as a proxy measure for residence in the first trimester in searching for e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29852c82436af0457d8052b4dcee59c6
https://pubmed.ncbi.nlm.nih.gov/3335868
https://pubmed.ncbi.nlm.nih.gov/3335868