Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sophie Paciuc"'
Autor:
Sophie Paciuc, Kurt Hirschhorn, Steluta Cristian, Lillian Y. F. Hsu, Ralph E. Moloshok, Karen David
Publikováno v:
Journal of Medical Genetics. 15:222-226
With combination of C and G banding techniques, three morphologically different types of isochromosome for the long arm of X (Xqi) have been identified, i.e. those with one C-band and symmetrical banding patterns of both arms, those with two C-bands
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f5f50f47790117671b3c762f995509c
https://doi.org/10.1136/jmg.15.3.222
https://doi.org/10.1136/jmg.15.3.222
Autor:
Alicia Quintana, Kurt Hirschhorn, Steluta Cristian, Sophie Paciuc, Lillian Y. F. Hsu, Hyon J. Kim
Publikováno v:
New England Journal of Medicine. 293:844-847
A consecutive series of 50 couples with a history of fetal wastage were studied cytogenetically with current banding technics. Fetal wastage was defined as occurring in couples who had more than two early abortions, stillbirth(s) or livebirth(s) or b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45c1f18992de77c6937276ce091c90b7
https://doi.org/10.1056/nejm197510232931703
https://doi.org/10.1056/nejm197510232931703
Autor:
Elaine J Conod, Sophie Paciuc, James H Conover, Peter Hathaway, Kurt Hirschhorn, Richard J. Bonforte, Frederick B Kopel
Publikováno v:
Pediatric Research. 7:220-223
Extract: We have modified Spock's rabbit tracheal bioassay to the extent that it is reproducible and reliable for the detection of the cystic fibrosis (CF) gene in single or double dose from serum. Three critical modifications were: (1) maintaining a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2257d58db0bd04fa1ee021f063eb19
https://doi.org/10.1203/00006450-197304000-00027
https://doi.org/10.1203/00006450-197304000-00027
Publikováno v:
Pediatric Research. 12:517-517
924 CYTOGENETIC AND CLINICAL DEFINITION OF TRISOMY 8: BASED ON OBSERVATIONS IN PARTIAL TRISOMY 8(ql3→qter)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06ecf5b32eb5daf4200761b10131799e
https://doi.org/10.1203/00006450-197804001-00929
https://doi.org/10.1203/00006450-197804001-00929
Autor:
Kurt Hirschhorn, Ramon Murphy, Sophie Paciuc, Judith P. Willner, Lillian Y. F. Hsu, Steluta Criatian
Publikováno v:
Pediatric Research. 11:530-530
Various partial trisomy syndromes have been described since the advent of the chromosome banding techniques. However, a documented case of partial trisomy 7p has, aa yet, not been reported. We have recently detected this aberration in a four month ol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85ea03b5f14f4cf9bc4fc278171e926c
https://doi.org/10.1203/00006450-197704000-00959
https://doi.org/10.1203/00006450-197704000-00959
Publikováno v:
Pediatric Research. 11:457-457
It is known that X isochromosome (Xqi) is frequently associated with 45,X mosaicism. Of 35 cases with Xqi collected by Ferguson-Smith, 23 cases were mosaic for 45,X/46,XXqi. Cases with 45,X/46,XXqi/47,XXqiXqi are also known. Apparently a structurally
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7526ac73fc807f60ad5b81664e8ff34
https://doi.org/10.1203/00006450-197704000-00526
https://doi.org/10.1203/00006450-197704000-00526
Publikováno v:
Cytogenetics & Cell Genetics; 1974, Vol. 13 Issue 5, p454-464, 11p
Publikováno v:
Cytogenetics & Cell Genetics; 1997, Vol. 76 Issue 1/2, p68-71, 4p
Autor:
Wisniewski, Lawrence P., Witt, Mary E., Ginsberg-Fellner, Fredda, Wilner, Judith, Desnick, Robert J.
Publikováno v:
Clinical Genetics; Jul1980, Vol. 18 Issue 1, p42-47, 6p
Publikováno v:
Clinical Genetics; Aug1978, Vol. 14 Issue 2, p90-97, 8p