Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Kenneth W. Dumars"'
Autor:
W. Angus Muir, P. Michael Conneally, Kenneth W. Dumars, Marie-Louise E. Lubs, Robert M. Greenstein
Publikováno v:
Genetic Diseases and Developmental Disabilities ISBN: 9780429048159
Genetic Diseases and Developmental Disabilities
Genetic Diseases and Developmental Disabilities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::692451b5b8770134d4a2146a1b79e0e7
https://doi.org/10.4324/9780429048159-6
https://doi.org/10.4324/9780429048159-6
Autor:
Kenneth W. Dumars, Corinne D. Boehm, Frank E. Shafer, Peter A. Lane, Patricia J. Giardina, James R. Eckman
Publikováno v:
American Journal of Medical Genetics. 62:29-37
Thalassemias occur in individuals of all ethnic backgrounds and are among the most common genetic diseases worldwide. The diagnosis of thalassemia can easily be part of primary medical practice. Here we outline a practical approach to the detection o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0354a3a8eacb813acf489c7734b06dc
https://doi.org/10.1002/(sici)1096-8628(19960301)62:1<29::aid-ajmg7>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960301)62:1<29::aid-ajmg7>3.0.co
Publikováno v:
American Journal of Medical Genetics. 6:309-314
The authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60286d59a312a2d8b421c6ac5895c4b
https://doi.org/10.1002/ajmg.1320060408
https://doi.org/10.1002/ajmg.1320060408
Autor:
Maria I. New, S. Douglas Frasier, Sigrun Korth-Schutz, Gary A. Parks, Ronald F. Hilding, Robert Penny, Kenneth W. Dumars
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 39:796-801
Twenty-eight consecutive daily determinations of FSH, LH and testosterone were made in 6 adolescent male homosexuals and 6 male heterosexuals matched for bone age and pubertal stage. All were in the same daily institutionalized regimen. All values fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e1e8a7448d69f99b77fc8e5d02218c3
https://doi.org/10.1210/jcem-39-4-796
https://doi.org/10.1210/jcem-39-4-796
Publikováno v:
Prenatal Diagnosis. 2:7-12
A significant problem associated with cytogenetic prenatal diagnosis is distinguishing between true and pseudomosaicism. This becomes a diagnostic dilemma when fetal mosaicism corresponds with a known clinical entity. True mosaicism reportedly occurs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6f117bc1c37713cbb4f927d1cb26ac9
https://doi.org/10.1002/pd.1970020103
https://doi.org/10.1002/pd.1970020103
Publikováno v:
American Journal of Medical Genetics. 8:341-347
We report chromosome rearrangements and/or duplication of chromosomes 11 and/or 22. This investigation was prompted by propositi with multiple congenital anomalies and an apparently identical chromosome abnormality – ie, 47,+der(22)t(11;22)(q23;q11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cf5519bcf991d9843efeb3d360902ba
https://doi.org/10.1002/ajmg.1320080313
https://doi.org/10.1002/ajmg.1320080313
Publikováno v:
The Journal of Pediatrics. 84:375-380
A 3 1/2-year-old "girl" whose condition had been diagnosed as "true agonadism" underwent endocrine evaluation, which suggested the presence of Leydig cells. The child was considered to be female, although born with mild phallic enlargement and poster
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060a9e525705a06600a0a0692c154da8
https://doi.org/10.1016/s0022-3476(74)80720-1
https://doi.org/10.1016/s0022-3476(74)80720-1
Autor:
Glenn W. Fowler, Kenneth W. Dumars
Publikováno v:
Pediatrics. 52:861-864
A patient with cutis aplasia and gross malformation of the brain is described. A defect in fetal development appears to be the most probable pathogenesis rather than mechanical causes. Genetic factors seem to be important in some families.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f73ef343eeac5edfbe9a3d875d1211cd
https://doi.org/10.1542/peds.52.6.861
https://doi.org/10.1542/peds.52.6.861
Publikováno v:
Cancer genetics and cytogenetics. 9(4)
The blast cells of a 14-year-old patient in the blastic phase of chronic myelogenous leukemia (CML) were studied. Cellular morphology, presence of the enzyme terminal deoxynucleotidyl transferase (TdT), and reactivity to the common acute lymphoblasti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4e2d10048df70fcdcde965980469b0
https://pubmed.ncbi.nlm.nih.gov/6603258
https://pubmed.ncbi.nlm.nih.gov/6603258
Autor:
Kenneth W. Dumars
Publikováno v:
Journal of medical education. 53(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea4642b35b1a15e27aebcd0adff22b81
https://pubmed.ncbi.nlm.nih.gov/691033
https://pubmed.ncbi.nlm.nih.gov/691033