Zobrazeno 1 - 10
of 11
pro vyhledávání: '"F. F B Elder"'
Publikováno v:
European Journal of Haematology. 39:306-310
Dyskeratosis congenita (DC) is a rare familial hematologic disorder that has various modes of inheritance. We have studied 2 siblings with DC. 1 sibling had thrombocytopenia, which responded to therapy with nandrolone decanoate and oxymetholone. Plat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290a5de239840c95f86606a6db144907
https://doi.org/10.1111/j.1600-0609.1987.tb00774.x
https://doi.org/10.1111/j.1600-0609.1987.tb00774.x
Autor:
J. Siegel-Bartelt, W. Chen, April Hill, J. Hou, F. F B Elder, Hope Northrup, Dan E. Wells, Julia E. Parrish, H.-J. Lüdecke, C. Chinault, B. Horsthemke, M. Sapru, Michael J. Wagner, Y. Wang
Publikováno v:
Genomics. 29:87-97
We have constructed a physical map covering over 4 Mb of human chromosome 8q24.1 and used this map to refine the locations of the genes responsible for Langer-Giedion syndrome. The map is composed of overlapping YAC clones that were identified and or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2080cc67bbd928379dd0484c11b3bfc
https://doi.org/10.1006/geno.1995.1218
https://doi.org/10.1006/geno.1995.1218
Publikováno v:
American Journal of Medical Genetics. 42:39-43
We present a patient with 45,X/46,X, + r(X) mosaicism and lack of inactivation of either the normal or the ring X in the 46,X, + r(X) cells. The patient has mental retardation, syndactyly, minor facial anomalies, and a congenital heart defect. Althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceafc310b7c6d080773419b52ae08c64
https://doi.org/10.1002/ajmg.1320420110
https://doi.org/10.1002/ajmg.1320420110
Autor:
Patricia Caroline Mary O’Brien, Steven M. Goodman, Link E. Olson, M.A. Ferguson-Smith, Clément Gilbert, Terence J. Robinson, F. F. B. Elder, Fengtang Yang, Voahangy Soarimalala
Publikováno v:
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 15(8)
Tenrecs (Tenrecidae) are a widely diversified assemblage of small eutherian mammals that occur in Madagascar and Western and Central Africa. With the exception of a few early karyotypic descriptions based on conventional staining, nothing is known ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e842d82321d20d8ba0ef89a0551f0ac
https://pubmed.ncbi.nlm.nih.gov/18058249
https://pubmed.ncbi.nlm.nih.gov/18058249
Autor:
F. F. B. Elder, Sen Pathak
Publikováno v:
Human Genetics. 54:171-175
Using a combination of silver-staining and light microscopic techniques on human male meiotic preparations, it is feasible to study the morphology and behavior of both autosomal synaptonemal complexes and sex chromosome axes. During leptotene and ear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f54bd03fa6741afb9989cabc6eaf0d
https://doi.org/10.1007/bf00278967
https://doi.org/10.1007/bf00278967
Autor:
Terence J. Robinson, F. F. B. Elder
Publikováno v:
Journal of Zoology. 211:735-745
Two species of Otomys, O. unisulcatus (2n = 28) and O. irroratus (2n = 28) were karyotypically compared by G-banding, C-banding and silver staining. The genomes of the two species differ in respect to all three cytogenetic parameters examined. Althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48e6d92da3ccceed7ca2a4a5fd43a42e
https://doi.org/10.1111/j.1469-7998.1987.tb04484.x
https://doi.org/10.1111/j.1469-7998.1987.tb04484.x
Publikováno v:
Blood. 70:1665-1672
A new hematopoietic cell line derived from a patient with Philadelphia chromosome (Ph1)-negative myeloblastic leukemia arising from a form of myelodysplastic syndrome (MDS) is described. This cell line, designated TMM, consists of immature cells with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66622fa5ebda0031243e5dc9af01f347
https://doi.org/10.1182/blood.v70.5.1665.1665
https://doi.org/10.1182/blood.v70.5.1665.1665
Publikováno v:
Human Genetics. 67:233-236
An interstitial deletion of the long arm of chromosome 16 has been identified in identical twins. These patients are strikingly similar phenotypically to previously reported cases of deletion 16q syndrome but differ chromosomally in that their deleti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2757bb58dc3448d7a00e28abf8e0bc48
https://doi.org/10.1007/bf00273010
https://doi.org/10.1007/bf00273010
Autor:
F. F. B. Elder, M. Raymond Lee
Publikováno v:
Journal of Mammalogy. 66:511-518
The G- and C-banded karyotypes of Sigmodon ochrognathus (2n = 52) and S. fulviventer (2n = 28, 29, 30) are presented and compared to S. hispidus (2n = 52), which we regard as representative of the ancestral chromosomal type. Sigmodon ochrognathus dif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e921906023d694d4e31d3daa31416d4
https://doi.org/10.2307/1380926
https://doi.org/10.2307/1380926
Publikováno v:
American journal of medical genetics. 20(3)
We studied after death a 3-month-old girl whose karyotype was 45,XX, − 15, − 17, + der(17),t(15;17)(q13;p13.3) and thus combines abnormalities of chromosome 15 associated with the Prader-Willi syndrome and of chromosome 17 associated with the Mil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad7255fc775e2a54d5dfb74acd7e66d9
https://pubmed.ncbi.nlm.nih.gov/3993677
https://pubmed.ncbi.nlm.nih.gov/3993677