Zobrazeno 1 - 10
of 23
pro vyhledávání: '"A B, Kanis"'
Autor:
Ruti Parvari, Alla Shnaider, Leonid Katchko, Adam B. Kanis, Daniel Landau, Anna Basok, Zvi Borochovich
Publikováno v:
American Journal of Medical Genetics. 99:204-209
Autosomal dominant familial nephropathies with adult onset, no macroscopic cysts, and progressive deterioration include medullary cystic disease (ADMCKD) as well as other less specific entities. We studied a kindred of Jewish ancestry in which 15 mem
Autor:
Edwin M. Stone, Christine M. Taylor, Adam B. Kanis, Ali A. Al-Rajhi, Darryl Y. Nishimura, Val C. Sheffield, Robert Folberg, William D. Mathers
Publikováno v:
Ophthalmic Genetics. 20:243-249
Congenital hereditary endothelial dystrophy (CHED) is a disorder of the corneal endothelium and has been recognized to segregate in families with both autosomal dominant (AD) and autosomal recessive (AR) modes of transmission. AD-CHED has been previo
Autor:
Allyn L. Mark, Gretel Beck, Nancy A. Kramer, Michael R. Garrett, Adam B. Kanis, Roxanne Y. Walder, Ann McClain, Val C. Sheffield, John P. Rapp, Theresa M. H. Brennan
Publikováno v:
Mammalian Genome. 9:1013-1021
In an effort to generate a genome-wide set of high-quality polymorphic markers for the rat, we used the marker-selection method, which has already been proven useful for the development of markers, especially for the human genome. Small-insert (300-9
Autor:
D. K. Yankowitz, A. B. Kanis, Jerome Yankowitz, Roger A. Williamson, Asha Rijhsinghani, G. M. Mueller
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 12:103-106
Objective There are no studies to date on the implications and outcomes of antenatally detected isolated club foot. The purpose of this study was to perform a contemporary evaluation of club foot diagnosed in the antenatal period. Design We performed
Autor:
Ruti Parvari, Eli Hershkovitz, Rivka Carmi, Val C. Sheffield, Rafael Gorodischer, Shlomit Shalitin, Adam B. Kanis
Publikováno v:
The American Journal of Human Genetics. 63(1):163-169
The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, w
Autor:
Adam B. Kanis, Ruth E. Swiderski, Darryl Y. Nishimura, Shivanand R. Patil, Val C. Sheffield, Steven R. Bennet, Julie M. Gastier, Wallace L.M. Alward, Charles Searby, Edwin M. Stone
Publikováno v:
Nature Genetics. 19:140-147
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a clus
Autor:
Val C. Sheffield, Joel Zlotogora, Robert G. Knowlton, Nancy C. Arbour, Edwin M. Stone, Adam B. Kanis, Saul Merin, Tatiana Rokhlina, Ada Rosenmann
Publikováno v:
Human Molecular Genetics. 6:689-694
Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish ki
Publikováno v:
Prenatal Diagnosis. 16:173-179
We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Leml
Autor:
Ira B. Kanis
Publikováno v:
Science Activities: Classroom Projects and Curriculum Ideas. 29:26-30
Autor:
Adam B. Kanis
Publikováno v:
Biotech Software & Internet Report. 1:44-46
gene discovery, the generation of DNA sequence information is followed by a search for homology by using the Basic Local Alignment and Sequence Tool (BLAST) algorithm and the sequence quences to submit, especially when the server is under heavy load,