Zobrazeno 1 - 8
of 8
pro vyhledávání: '"F S, Alkuraya"'
Publikováno v:
Clinical genetics. 92(5)
GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. This is followed by a detaile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e8fbad6d3784537e63985c6528347dfc
https://pubmed.ncbi.nlm.nih.gov/28224613
https://pubmed.ncbi.nlm.nih.gov/28224613
Publikováno v:
Clinical genetics. 91(4)
Short-chain enoyl-CoA hydratase (SCEH) is a mitochondrial enzyme involved in the oxidation of fatty acids and the catabolic pathway of valine and, to a lesser extent, isoleucine. Deficiency of this enzyme was recently shown to cause an early childhoo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::071c45f4e2d9334503ab6fc29a937caf
https://pubmed.ncbi.nlm.nih.gov/27905109
https://pubmed.ncbi.nlm.nih.gov/27905109
Publikováno v:
Clinical genetics. 90(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9c7e5f71eec6daab0db6687f299df607
https://pubmed.ncbi.nlm.nih.gov/27239025
https://pubmed.ncbi.nlm.nih.gov/27239025
Publikováno v:
Clinical genetics. 88(3)
The aim of this study is to investigate the genetic basis of autosomal recessive congenital cataract and intellectual disability phenotype in a consanguineous Tunisian family. The whole genome scan of the studied family was performed with single nucl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2865c85b4660e05f1c639804e8eb8345
https://pubmed.ncbi.nlm.nih.gov/25358429
https://pubmed.ncbi.nlm.nih.gov/25358429
Publikováno v:
Clinical genetics. 86(5)
Several umbilical abnormalities have been linked to and utilized to aid in the clinical diagnosis of certain syndromes. For instance, umbilical skin redundancy has long been recognized as a core feature of Rieger syndrome although its association wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2ccec79a13d45e923e3162bebb0eb8a2
https://pubmed.ncbi.nlm.nih.gov/24773188
https://pubmed.ncbi.nlm.nih.gov/24773188
Autor:
R, Shaheen, M, Al-Owain, A O, Khan, M S, Zaki, H A A, Hossni, R, Al-Tassan, W, Eyaid, F S, Alkuraya
Publikováno v:
Clinical genetics. 85(6)
Arthrogryposis refers to congenital contracture in at least two different body parts. When distal joints are primarily involved, the term distal arthrogryposis (DA) is used. The recognition of clinically distinct subtypes of DA has proven very useful
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f162a9ab465222bec1d01965f32681ca
https://pubmed.ncbi.nlm.nih.gov/23829171
https://pubmed.ncbi.nlm.nih.gov/23829171
Autor:
N, Patel, M A, Salih, M J, Alshammari, F, Abdulwahhab, N, Adly, F, Alzahrani, E A, Elgamal, H Y, Elkhashab, M, Al-Qattan, F S, Alkuraya
Publikováno v:
Clinical genetics. 85(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df588d25a1abbc7e94fdcf1e9ffe370a
https://pubmed.ncbi.nlm.nih.gov/23808541
https://pubmed.ncbi.nlm.nih.gov/23808541
Autor:
F S, Alkuraya
Publikováno v:
Clinical genetics. 84(3)
Consanguinity is practiced by around one tenth of the world population but its global distribution is far from uniform. In countries where consanguinity is common, a corresponding increase in the frequency of autosomal recessive diseases is usually o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fbdf356e4d265b106c1180a70aac9000
https://pubmed.ncbi.nlm.nih.gov/23451714
https://pubmed.ncbi.nlm.nih.gov/23451714