Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Adam 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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938a585e368057fd73aab736c0e55b07
https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1158>3.0.co
https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1158>3.0.co
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e4c0fec5a980418e68463a51ce93da
https://doi.org/10.1076/opge.20.4.243.2273
https://doi.org/10.1076/opge.20.4.243.2273
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67f53f59b366c0d86b3466b22cc5a0fa
https://doi.org/10.1007/s003359900917
https://doi.org/10.1007/s003359900917
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c594e03de38375904032ced7138ef1c4
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::318784f26aa85e73ae3cc3755b72b5b7
https://doi.org/10.1038/493
https://doi.org/10.1038/493
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6bc915f950b24d0615fa9143185c72
https://doi.org/10.1093/hmg/6.5.689
https://doi.org/10.1093/hmg/6.5.689
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca8e6f92bde340c01a94b368e0979606
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<173::aid-pd821>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<173::aid-pd821>3.0.co
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,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13f5c37b94076563c5a3afc0a082414d
https://doi.org/10.1089/152791600319277
https://doi.org/10.1089/152791600319277
Autor:
Richard J.H. Smith, Adam B. Kanis, Lisbeth Tranebjærg, Lih Yeen Tan, Abram P. Vore, James T. Brookes
Publikováno v:
International journal of pediatric otorhinolaryngology. 72(1)
To report the results of the first known cochlear implantation in a patient with deafness-dystonia-optic neuronopathy (DDON) syndrome (Mohr-Tranebaerg syndrome, DFN-1). DDON syndrome is an X-linked condition characterized by postlingual sensorineural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::178b9fe1f955aa03cfe9696987f00213
https://pubmed.ncbi.nlm.nih.gov/17936919
https://pubmed.ncbi.nlm.nih.gov/17936919
Publikováno v:
Genomics. 45(2)
RGS3 is the largest member of a recently discovered family of proteins (RGS proteins) that appear to function as negative regulators of heterotrimeric G-protein signaling. Seventeen mammalian RGS proteins have been identified by cloning or by compari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8fe13ce2c47fe0343389bcefc1c77db
https://pubmed.ncbi.nlm.nih.gov/9344672
https://pubmed.ncbi.nlm.nih.gov/9344672