Výsledky vyhledávání - "L A, Phylactou"

AB1508 A NOVEL PATHOGENIC VARIANT IN ZNF462 GENE ASSOCIATED WITH WEISS-KRUSZKA SYNDROME AND SLE

Autor: M. Constantinou, M. Lampi, V. Neocleous, P. Fanis, L. A. Phylactou, S. Psarelis, K. Parperis

Publikováno v: Annals of the Rheumatic Diseases. 81:1856.1-1857

BackgroundWeiss-Kruszka syndrome (WSKA) is an autosomal dominant congenital anomaly syndrome due to mutations in the ZNF462 gene and manifests with developmental delay and multiple craniofacial abnormalities with variable expressivity1. It is also ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9440d728515a5ea9fa719b2cf2c15ceb
https://doi.org/10.1136/annrheumdis-2022-eular.197

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High carrier frequency of 21-hydroxylase deficiency in Cyprus

Autor: A A P, Phedonos, C, Shammas, N, Skordis, T C, Kyriakides, V, Neocleous, L A, Phylactou

Publikováno v: Clinical genetics. 84(6)

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has been estimated to be 1:25 to 1:10 on the b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2b002544d0506ed0fa9caec16bdc0209
https://pubmed.ncbi.nlm.nih.gov/23600966

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Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia

Autor: V, Neocleous, C, Shammas, A P, Phedonos, E, Karaoli, A, Kyriakou, M, Toumba, L A, Phylactou, N, Skordis

Publikováno v: Georgian medical news. (210)

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder primarily caused by mutants in the CYP21A2 gene. Heterozygosity for CYP21A2 mutations in females increases their risk of clinically manifesting hyperandrogenism and the pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8768a4ea7559ee725430a0eb4c4661f7
https://pubmed.ncbi.nlm.nih.gov/23045419

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RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2

Autor: V, Neocleous, N, Skordis, G, Portides, E, Efstathiou, C, Costi, N, Ioannou, M, Pantzaris, V, Anastasiadou, C, Deltas, L A, Phylactou

Publikováno v: Journal of endocrinological investigation. 34(10)

RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been suggested to act as genetic modifiers at the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::20ec3f7d78df8c57d8dda5dc52aaf550
https://pubmed.ncbi.nlm.nih.gov/21422799

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Ribozyme gene therapy

Autor: L A, Phylactou

Publikováno v: Methods in molecular biology (Clifton, N.J.). 175

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::afc5b70cd9eba8358b9dd190e4f3244f
https://pubmed.ncbi.nlm.nih.gov/11462855

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Utilization of properties of natural catalytic RNA to design and synthesize functional ribozymes

Autor: L A, Phylactou, C, Darrah, L, Everatt, D, Maniotis, M W, Kilpatrick

Publikováno v: Methods in enzymology. 313

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cc97b40ee24272f109886a24f96a54cd
https://pubmed.ncbi.nlm.nih.gov/10595375

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