Zobrazeno 1 - 10 of 13 pro vyhledávání: '"Frederick R. Sergovich"'
2
Choroideremia associated with an X-autosomal translocation
Autor: Jack H. Jung, John R. Gonder, Victoria Mok Siu, Frederick R. Sergovich, Wayne F. Flintoff
Publikováno v: Human Genetics
Summary A patient with mild choroideremia has been shown to carry a balanced translocation between chromosome X and 13 – 46,X,t(X;13)(q21.2;p12). Loci (DXY21, DX232, DX233) shown to map to this region on the X chromosome and in some cases to be del
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5045de24d1bea2037985f236d7497a91
https://pubmed.ncbi.nlm.nih.gov/2323779
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3
Chromosome studies in full-term, low-birth-weight, mentally retarded patients
Autor: Frederick R. Sergovich, Dinah Gruber, John S. Mckim, Andrew T. L. Chen, Murray L. Barr
Publikováno v: The Journal of Pediatrics. 76:393-398
Chromosome analyses were done on the peripheral blood leukocyte cultures of 150 full-term low-birth-weight mentally retarded patients, and of 150 control normal-birth-weight mentally retarded patients who were matched for sex, age, and etiologic clas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7529bf0f780709cb60104e9632dec25
https://doi.org/10.1016/s0022-3476(70)80478-4
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6
The use of testicular volume as a clinical marker for cytogenetic disorders in mentally retarded males
Autor: Frederick R. Sergovich, A. J. Kirkilionis, J. Pozsonyi
Publikováno v: Journal of mental deficiency research. 32
The testicular volumes (V) of 817 adult (non-Down's syndrome) institutionalized males were calculated. The mean testicular volume was 19.5 +/- 15.8 ml, comparable to the normal adult male mean of 17-19 ml. However, the number of institutionalized mal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6179ea69b02f4b08f2597c37cae2d17a
https://pubmed.ncbi.nlm.nih.gov/2896248
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8
The 49,XXXXX chromosome constitution: similarities to the 49,XXXXY condition
Autor: Catharina Uilenberg, Frederick R. Sergovich, J. Pozsonyi
Publikováno v: The Journal of pediatrics. 78(2)
A 16-year-old girl is described who had 49 chromosomes in leukocyte and skin cultures, up to 4 sex chromatin masses in interphase nuclei, and a penta-X chromosome constitution. The girl presented a distinctive facies which was remarkably similar to t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccedd50f182ce7b0d405c3c9584d411
https://pubmed.ncbi.nlm.nih.gov/5539772
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9
MONGOLISM (DOWN'S SYNDROME) WITH ATYPICAL CLINICAL AND CYTOGENETIC FEATURES
Autor: Hubert C. Soltan, G. Howard Valentine, Frederick R. Sergovich, David H. Carr
Publikováno v: The Journal of pediatrics. 65
Two cases of atypical mongolism (Down's syndrome) with unusual clinical and chromosomal features are reported. In the first patient the short arm of one chromosome of the 13–15 (D) group was elongated by an amount approximately equal to one-fifth t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b7b027103d23b35690ac93959903b0
https://pubmed.ncbi.nlm.nih.gov/14198409
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