Zobrazeno 1 - 10
of 34
pro vyhledávání: '"F F, Elder"'
Publikováno v:
American journal of medical genetics. 66(4)
We report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e15686360bd196b4890e962be03ceb9
https://pubmed.ncbi.nlm.nih.gov/8989466
https://pubmed.ncbi.nlm.nih.gov/8989466
Autor:
S L, Christian, A C, Smith, M, Macha, S H, Black, F F, Elder, J M, Johnson, R G, Resta, U, Surti, L, Suslak, M S, Verp, D H, Ledbetter
Publikováno v:
Prenatal diagnosis. 16(4)
Maternal uniparental disomy 15 (UPD15), responsible for approximately 25 per cent of Prader-Willi syndrome cases, is usually caused by maternal meiosis I non-disjunction associated with advanced maternal age. These cases may initially be detected as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::119d381099cf5a6fa13ae80571b8236c
https://pubmed.ncbi.nlm.nih.gov/8734806
https://pubmed.ncbi.nlm.nih.gov/8734806
Autor:
M R, Altherr, U, Bengtsson, F F, Elder, D H, Ledbetter, J J, Wasmuth, M E, McDonald, J F, Gusella, F, Greenberg
Publikováno v:
American journal of human genetics. 49(6)
Wolf-Hirschhorn syndrome is a clinically recognizable, multiple congenital anomaly syndrome usually associated with terminal deletion of the short arm of chromosome 4. A girl with clinical features of Wolf-Hirschhorn syndrome did not show an obvious
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9b232ff5a572aac4deace34bbbed7203
https://pubmed.ncbi.nlm.nih.gov/1746553
https://pubmed.ncbi.nlm.nih.gov/1746553
Publikováno v:
Cancer genetics and cytogenetics. 55(2)
Cytogenetic analysis yields important objective information that has been shown to correlate with both patient response to therapeutic intervention and patient survival. Bone marrow samples are submitted to a common reference laboratory for cytogenet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6dd56b7ca15d62a2fed65e9283c7232f
https://pubmed.ncbi.nlm.nih.gov/1933828
https://pubmed.ncbi.nlm.nih.gov/1933828
Publikováno v:
Human genetics. 87(4)
Cytogenetic analyses have previously shown that the region Xq11.2-q21 is retained in all structurally abnormal X chromosomes. From these observations the conclusion has been drawn that this "critical region" on the proximal long arm of the X chromoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8973a006d31ddf3dbb5232f2733d793
https://pubmed.ncbi.nlm.nih.gov/1879836
https://pubmed.ncbi.nlm.nih.gov/1879836
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_dedup___::0915d745aafdb921ec35da3f73b41fe5
https://doi.org/10.1182/blood.v70.5.1665.bloodjournal7051665
https://doi.org/10.1182/blood.v70.5.1665.bloodjournal7051665
Publikováno v:
Cytogenetics and cell genetics. 42(1-2)
In situ hybridization of radiolabeled fibrinogen cDNAs to human and rat metaphase chromosomes has shown that the genes encoding the A alpha, B beta, and gamma fibrinogen subunits are syntenic in both species. Our data localize the human fibrinogen ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3800b39e0e52b694909c35571d608cf3
https://pubmed.ncbi.nlm.nih.gov/3755095
https://pubmed.ncbi.nlm.nih.gov/3755095
Publikováno v:
Cytogenetics and cell genetics. 35(3)
The banding patterns of mitotic chromosome from three cottontail species, Sylvilagus aquaticus (2n = 38), S. floridanus (2n = 42), and S. transitionalis (2n = 46), are presented and compared with those of the proposed leporid ancestral karyotype, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::14e1da494978e25e8ba5b361ad42da92
https://pubmed.ncbi.nlm.nih.gov/6861527
https://pubmed.ncbi.nlm.nih.gov/6861527
Autor:
F F, Elder
Publikováno v:
Cytogenetics and cell genetics. 26(2-4)
G-banded and C-banded karyotypes of three closely related and morphologically similar species of cotton rats, Sigmodon hispidus (2n=52; 52 autosomal arms), S. mascotensis (2n=28; 28 autosomal arms), and S. arizonae (2n=22,24; 38 autosomal arms) are p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8adb6f676daf1dcc1ffcc998d76b9e80
https://pubmed.ncbi.nlm.nih.gov/7389411
https://pubmed.ncbi.nlm.nih.gov/7389411
Publikováno v:
Acta haematologica. 78(1)
We report a case of acute nonlymphoblastic leukemia (M5) with a rare cytogenetic abnormality involving chromosomes 8 and 16, t(8;16)(p11;p13). The leukemic blasts were determined to be monocytic by cytochemical and immunochemical studies. Morphologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e44b8063128397dbe2ea22a784e68826
https://pubmed.ncbi.nlm.nih.gov/3116801
https://pubmed.ncbi.nlm.nih.gov/3116801