HybrAmp approach for CYP21A2 pathogenic allele screening and diagnosis

被引：0
|
作者：
Urbanova, Marketa [1 ]
Zembol, Filip [1 ]
Bittoova, Martina [1 ]
Stejskal, David [1 ]
Koudova, Monika [1 ]
机构：
[1] Gennet Sro, Ctr Mol Diagnost & Reprod Med, Prague, Czech Republic
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P16.066.B
引用
收藏
页码：627 / 628
页数：2
相关论文
共 50 条
  • [1] CYP21A2 gene pathogenic variants in the women of reproductive age with hyperandrogenism
    Osinovskaya, Natalia
    Nasykhova, Yulia
    Yarmolinskaya, Maria I.
    Glavnova, Olga
    Sultanov, Iskender
    Glotov, Andrey
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 97 - 97
  • [2] Molecular characterization of a new CYP21A2 allele and classification of its pathogenicity
    Gomes, Susana
    Rosmaninho Salgado, Joana Margarida
    Saraiva, Jorge M.
    Goncalves, Joao
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 271 - 271
  • [3] In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant
    Cohen, Michal
    Pignatti, Emanuele
    Dines, Monica
    Mory, Adi
    Ekhilevitch, Nina
    Kolodny, Rachel
    Fluck, Christa E.
    Tiosano, Dov
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (16) : 1 - 11
  • [4] Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis
    Suwanlikit, Yossawat
    Panthan, Bhakbhoom
    Chitayanan, Pawares
    Klumsathian, Sommon
    Charoenyingwattana, Angkana
    Chantratita, Wasun
    Trachoo, Objoon
    BMC MEDICAL GENOMICS, 2025, 18 (01)
  • [5] Heterozygosis for CYP21A2 Mutation Considered as 21-Hydroxylase Deficiency in Neonatal Screening
    Soardi, Fernanda Caroline
    Lemos-Marini, Sofia Helena V.
    Coeli, Fernanda Borchers
    Maturana, Victor Goncalves
    Barbosa da Silva, Marcia Duarte
    Bernardi, Renan Darin
    Justo, Giselle Zenker
    de-Mello, Maricilda Palandi
    ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2008, 52 (08) : 1388 - 1392
  • [6] Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia
    Mayara Jorgens Prado
    Simone Martins de Castro
    Cristiane Kopacek
    Maricilda Palandi de Mello
    Thaiane Rispoli
    Tarciana Grandi
    Cláudia Maria Dornelles da Silva
    Maria Lucia Rosa Rossetti
    Molecular Diagnosis & Therapy, 2017, 21 : 663 - 675
  • [7] Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia
    Prado, Mayara Jorgens
    de Castro, Simone Martins
    Kopacek, Cristiane
    de Mello, Maricilda Palandi
    Rispoli, Thaiane
    Grandi, Tarciana
    Dornelles da Silva, Claudia Maria
    Rosa Rossetti, Maria Lucia
    MOLECULAR DIAGNOSIS & THERAPY, 2017, 21 (06) : 663 - 675
  • [8] Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction
    de Carvalho, Daniel F.
    Miranda, Mirela C.
    Gomes, Larissa G.
    Madureira, Guiomar
    Marcondes, Jose A. M.
    Billerbeck, Ana Elisa C.
    Rodrigues, Andresa S.
    Presti, Paula F.
    Kuperman, Hilton
    Damiani, Durval
    Mendonca, Berenice B.
    Bachega, Tania A. S. S.
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2016, 175 (02) : 107 - 116
  • [9] Analysis of CYP21A1P and the duplicated CYP21A2 genes
    Tsai, Li-Ping
    Lee, Hsien-Hsiung
    GENE, 2012, 506 (01) : 261 - 262
  • [10] Genotype in the diagnosis of 21-hydroxylase deficiency: Who should undergo CYP21A2 analysis?
    Cavarzere, P.
    Vincenzi, M.
    Teofoli, F.
    Gaudino, R.
    Lauriola, S.
    Maines, E.
    Camilot, M.
    Antoniazzi, F.
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2013, 36 (11): : 1083 - 1089
12345