Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Wayne H. Finley"'
Publikováno v:
Clinical Genetics. 8:341-348
A structural abnormality of chromosome No. 1 was found in two families who had a history of repeated abortions. The propositus in Family H was a low birth weight, malformed infant who had a partial trisomy of 1g. His mother and a sibling were balance
Publikováno v:
Clinical Genetics. 3:465-469
Some of the evidence suggesting a relationship between autoimmunity and chromosomal aberrations is reviewed and an example which may support such a relationship is presented. The propositus was a 5-year-old Caucasian female who had juvenile rheumatoi
Publikováno v:
American journal of medical genetics. Part A. 167(7)
We describe a clinical encounter with family members that carry a balanced translocation involving chromosomes 15 and 21 roughly 50 years after the proband was diagnosed with partial trisomy 21 due to an unbalanced translocation. We discuss how these
Autor:
Wayne H Finley
Publikováno v:
Pediatric annals. 2(11)
Publikováno v:
Journal of Medical Genetics. 32:619-622
We report three unrelated patients with small terminal deletions involving 1p36.22-->pter that occurred de novo and compare our patients to the 10 previously reported cases. Although our patients have an identical cytogenetic deletion, patients 1 and
Publikováno v:
Southern Medical Journal. 87:724-727
Medical records of 118 newborn infants with Down's syndrome were reviewed to document the types of congenital heart disease (CHD) in those having echocardiography. Of 102 infants having echocardiography, 49 (48%) had heart defects; 47 of these had tr
Autor:
Tracy Hall, Karl-Henrik Gustavson, Wayne H. Finley, Clyde Barganier, Joann Wiedmeyer, David Hurst
Publikováno v:
Southern Medical Journal. 87:440-445
Birth defects in live-born infants were documented for 2 years in Jefferson County, Alabama (USA)--1986 and 1987--and in Uppsala County, Sweden--1985 and 1986. A total of 27,561 live births (9,179 white male, 8,728 white female, 4,883 black male, and
Publikováno v:
Nucleic Acids Research. 22:1735-1740
Expansion of trimer repeats has recently been described as a new type of human mutation. Of the 64 possible trimer compositions, only the CGG and CAG repeats have been implicated in genetic diseases. This study intends to address two questions: (1) W
Publikováno v:
Antisense Research and Development. 4:53-65
Antisense oligonucleotides (ASOs) are capable of blocking the expression of targeted genes and are potential antitumor and antiviral therapeutic agents. The specificity of ASO gene inhibition is compromised when homology to other sequences allows the
Autor:
R. Lee Kirby, Jan Jacques Michiels, Alain Taieb, Peter Heutink, Guido J. Breedveld, Wayne H. Finley, Gerard Y.A. Guillet, Joost P.H. Drenth, Leon Testers
Publikováno v:
The American journal of human genetics
American Journal of Human Genetics, 68, 1277-1282. Cell Press
American Journal of Human Genetics, 68, 5, pp. 1277-82
American Journal of Human Genetics, 68, 1277-82
American Journal of Human Genetics, 68, 1277-1282. Cell Press
American Journal of Human Genetics, 68, 5, pp. 1277-82
American Journal of Human Genetics, 68, 1277-82
Item does not contain fulltext Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. The symptoms are generally refractory to treatment and persist throughout life. Five kindreds with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fe1c3083d263a405ca4d230306958a0
https://doi.org/10.1086/320107
https://doi.org/10.1086/320107