Zobrazeno 1 - 10
of 24
pro vyhledávání: '"S. Yelchits"'
Publikováno v:
Scopus-Elsevier
To map the gene responsible for causing a macular degeneration in a Texan family that appears clinically similar to the North Carolina macular dystrophy (MCDR1) phenotype.A single family in Texas had all the typical clinical features of the North Car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c5b45ec325fc87a3a1dc6b225468e6
https://doi.org/10.1097/00006982-199805000-00012
https://doi.org/10.1097/00006982-199805000-00012
Autor:
Rosamaria Silva-Garcia, Nitin Udar, S. Yelchits, Meenal Chalukya, Vivek S. Yellore, Kent W. Small
Publikováno v:
Human mutation. 22(3)
Bleparophimosis ptosis epicanthus inversus syndrome (BPES) is a rare disorder characterized by eyelid malformation and in some cases associated with premature ovarian failure. Although the familial form is autosomal dominant, many cases are also spor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55549c8aad3e40e5206445a6e2d0f7dc
https://pubmed.ncbi.nlm.nih.gov/12938087
https://pubmed.ncbi.nlm.nih.gov/12938087
Autor:
Nitin Udar, Kent W. Small, Irene H. Maumenee, S. Yelchits, Rosamaria Silva-Garcia, Steve Nusinowitz, Meenal Chalukya, Vivek S. Yellore, Larry A. Donoso, Tamara R. Vrabec
Publikováno v:
Human mutation. 21(2)
Cone rod dystrophy 5 (CORD5) is an autosomal dominant retinal disease that primarily affects cone function. The locus has previously been mapped to human chromosome 17p12-p13 between the markers D17S926/D17S849 and D17S945/D17S804. One of our “unaf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c688676042fb7518951566cec4ab2cf
https://pubmed.ncbi.nlm.nih.gov/12552567
https://pubmed.ncbi.nlm.nih.gov/12552567
North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis
Autor:
K W, Small, N, Udar, S, Yelchits, R, Klein, C, Garcia, G, Gallardo, B, Puech, V, Puech, D, Saperstein, J, Lim, J, Haller, C, Flaxel, R, Kelsell, D, Hunt, K, Evans, F, Lennon, M, Pericak-Vance
Publikováno v:
Molecular vision. 5
We previously reported linkage of North Carolina macular dystrophy in a single isolated family to a broad region on chromosome 6q16. In order to refine the localization of the MCDR1 gene (North Carolina macular dystrophy), additional families with th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::75e77d118de836a85bd1b06f6d54584b
https://pubmed.ncbi.nlm.nih.gov/10617775
https://pubmed.ncbi.nlm.nih.gov/10617775
Publikováno v:
American journal of ophthalmology. 125(4)
Purpose To describe the clinical findings of an autosomal dominant macular dystrophy in a family of Mayan Indian ancestry in Belize, Central America, and to determine its molecular genetic relationship with the original North Carolinian family. Metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::680a3e83b2f9d7ae208aea5e32a247bc
https://pubmed.ncbi.nlm.nih.gov/9559736
https://pubmed.ncbi.nlm.nih.gov/9559736
Publikováno v:
Molecular vision. 3
To determine if a family in France, which manifests an autosomal dominant macular dystrophy, has North Carolina macular dystrophy (MCDR1) and to determine its possible molecular genetic relationship with the original North Carolina family.A family fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::046b56fc98cd34df1e6a6193bfad4b3f
https://pubmed.ncbi.nlm.nih.gov/9238090
https://pubmed.ncbi.nlm.nih.gov/9238090
Publikováno v:
Retina. 18:192
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7eaf0c9dafd458e04369c847e76c13c0
https://doi.org/10.1097/00006982-199818020-00031
https://doi.org/10.1097/00006982-199818020-00031
Autor:
Bart P. Leroy, Yves Gillerot, Michael J. Dixon, Philippe Touraine, Marc Fellous, Verayuth Praphanphoj, Shangzhi Huang, Nitin Udar, Reiner A. Veitia, Vivek S. Yellore, Winnie Courtens, Lionel Van Maldergem, Ethylin Wang Jabs, Inge Liebaers, Alain Verloes, Françoise Meire, Kent W. Small, Ludwine Messiaen, S. Yelchits, Geert Mortier, Nicole Van Regemorter, Meenal Chalukya, Helle Hjalgrim, F Kuttenn, Anne De Paepe, Elfride De Baere, Koenraad Devriendt
Publikováno v:
Scopus-Elsevier
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharo-phimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. In BPES type I a complex eyelid malformation is associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8881ca863394ed63ab4622454964ff3d
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035878536&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035878536&partnerID=MN8TOARS
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.