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| Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia. Molecular and cellular endocrinology 2021 Jul 536 111399. Villela Thais Ramos, Barra Cristina Botelho, Belisário André Rolim, Luizon Marcelo Rizzatti, Simões E Silva Ana Cristina, Silva Ivani Nova |
| POR polymorphisms are associated with 21 hydroxylase deficiency. Journal of endocrinological investigation 2021 Mar . Pecori Giraldi F, Einaudi S, Sesta A, Verna F, Messina M, Manieri C, Menegatti E, Ghizzoni |
| Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt. Journal of pediatric endocrinology & metabolism : JPEM 2020 Jul . Essawi Mona, Mazen Inas, Fawaz Lubna, Hassan Heba, ElBagoury Nagham, Peter Michael, Gaafar Khadiga, Amer Mahmoud, Nabil Wajeet, Hohmann Gisela, Soliman Hala, Sippell Wolfga |
| Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Molecular and cellular pediatrics 2020 Jul 7 (1): 8. Dörr Helmuth-Günther, Schulze Nadja, Bettendorf Markus, Binder Gerhard, Bonfig Walter, Denzer Christian, Dunstheimer Desiree, Salzgeber Kirsten, Schmidt Heinrich, Schwab Karl Otfried, Voss Egbert, Wabitsch Martin, Wölfle Joach |
| The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency. The Journal of clinical endocrinology and metabolism 2020 Apr . Gao Yinjie, Lu Lin, Yu Bingqing, Mao Jiangfeng, Wang Xi, Nie Min, Wu Xuey |
| Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X. BMC research notes 2019 Oct 12 (1): 711. Kolli Vipula, Kim Hannah, Rao Hamsini, Lao Qizong, Gaynor Alison, Milner Joshua D, Merke Deborah |
| Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China. Steroids 2019 Aug 151 108474. Hou Lele, Liang Liyang, Lin Shaofen, Ou Hui, Liu Zulin, Huang Siqi, Zhang Lina, Meng Z |
| Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency. Molecular diagnosis & therapy 2019 Jul . Concolino Pao |
| Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency. Molecular genetics & genomic medicine 2019 Apr e671. Xu Chao, Jia Wenyu, Cheng Xiangdeng, Ying Hui, Chen Jing, Xu Jin, Guan Qingbo, Zhou Xinli, Zheng Dongmei, Li Guimei, Zhao Jiaj |
| Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China. Clinica chimica acta; international journal of clinical chemistry 2018 Jul . Su Ling, Yin Xi, Cheng Jing, Cai Yanna, Wu Dongyan, Feng Zhichun, Liu |
| Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia. Molecular diagnosis & therapy 2017 Aug . Prado Mayara Jorgens, de Castro Simone Martins, Kopacek Cristiane, de Mello Maricilda Palandi, Rispoli Thaiane, Grandi Tarciana, da Silva Cláudia Maria Dornelles, Rossetti Maria Lucia Ro |
| A genetic epidemiology study of congenital adrenal hyperplasia in Italy. Clinical genetics 2017 Jun . Gialluisi Alessandro, Menabò Soara, Baldazzi Lilia, Casula Letizia, Meloni Antonella, Farci Maria Carla, Mariotti Stefano, Balestrino Luisa, Ortolano Rita, Murru Stefania, Carcassi Carlo, Loche Sandro, Balsamo Antonio, Romeo Giovan |
| Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations. The Journal of international medical research 2017 Apr 45 (2): 481-492. Zhang Bo, Lu Lin, Lu Zhaol |
| Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians. Genetics in medicine : official journal of the American College of Medical Genetics 2017 11 19 (11): 1276-1279. Hannah-Shmouni Fady, Morissette Rachel, Sinaii Ninet, Elman Meredith, Prezant Toni R, Chen Wuyan, Pulver Ann, Merke Deborah |
| A Single Nucleotide Variant in the Promoter Region of 17ß-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency. Hormone research in paediatrics 2016 Apr . Kaupert Laura C, Gomes Larissa G, Brito Vinícius N, Lemos-Marini Sofia H V, de Mello Maricilda P, Longui Carlos A, Kochi Cristiane, de Castro Margaret, Guerra Gil, Mendonca Berenice B, Bachega Tânia A S |
| [Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2016 Feb 18 (2): 141-6. Li Jing, Luo Yan-Fei, Maimaiti Miregu |
| CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2016 Feb . Falhammar Henrik, Torpy David |
| The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene. PloS one 2016 11 (2): e0148548. Moura-Massari Vivian Oliveira, Cunha Flávia Siqueira, Garcia Gomes Larissa, Bugano Diniz Gomes Diogo, Marcondes José Antônio Miguel, Madureira Guiomar, de Mendonca Berenice Bilharinho, Bachega Tânia A Sartori Sanch |
| Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study. Psychoneuroendocrinology 2015 Oct 60 195-205. Engberg Hedvig, Butwicka Agnieszka, Nordenström Anna, Hirschberg Angelica Lindén, Falhammar Henrik, Lichtenstein Paul, Nordenskjöld Agneta, Frisén Louise, Landén Mika |
| Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency. Endocrine 2015 Sep 50 (1): 72-8. Fernández Cecilia S, Bruque Carlos D, Taboas Melisa, Buzzalino Noemí D, Espeche Lucia D, Pasqualini Titania, Charreau Eduardo H, Alba Liliana G, Ghiringhelli Pablo D, Dain Lilia |
| Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2015 Aug 47 (9): 662-7. Kiedrowicz B, Binczak-Kuleta A, Lubikowski J, Koziolek M, Andrysiak-Mamos E, Ostanek-Panka M, Ciechanowicz A, Syrenicz |
| Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2015 Jun 47 (7): 491-6. Ben-Shachar S, Ayalon I, Reznik-Wolf H, Tenenbaum-Rakover Y, Zuckerman-Levin N, Cohen O, Lifshitz A, Fraenkel M, Toledano Y, Roash V, Koren I, Modan-Moses D, Hirsch D, Schachter-Davidov A, Israel S, Eyal O, Weintrob |
| Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia. Cellular and molecular biology (Noisy-le-Grand, France) 2015 61 (4): 51-5. Forouzanfar K, Seifi M, Hashemi-Gorji F, Karimi V, Estiar M A, Karimoei M, Sakhinia E, Karimipour |
| Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis? Journal of endocrinological investigation 2013 Dec 36 (11): 1083-9. Cavarzere P, Vincenzi M, Teofoli F, Gaudino R, Lauriola S, Maines E, Camilot M, Antoniazzi |
| High carrier frequency of 21-hydroxylase deficiency in Cyprus. Clinical genetics 2013 Dec 84 (6): 585-8. Phedonos A A P, Shammas C, Skordis N, Kyriakides T C, Neocleous V, Phylactou L |
| Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia. The Journal of molecular diagnostics : JMD 2013 Nov 15 (6): 745-53. Xu Zhi, Chen Wuyan, Merke Deborah P, McDonnell Nazli |
| A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Gene 2013 Sep 526 (2): 239-45. Coeli-Lacchini Fernanda Borchers, Turatti Wendy, Elias Paula Conde Lamparelli, Elias Lucila Leico Kagohara, Martinelli Carlos Eduardo, Moreira Ayrton Custodio, Antonini Sonir Roberto, de Castro Margar |
| Genes, pseudogenes and like genes: the case of 21-hydroxylase in Italian population. Clinica chimica acta; international journal of clinical chemistry 2013 Sep 424 85-9. Concolino Paola, Mello Enrica, Minucci Angelo, Giardina Bruno, Capoluongo Etto |
| Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center. Annals of pediatric endocrinology & metabolism 2013 Sep 18 (3): 128-34. Yoo Yangho, Chang Mi Sun, Lee Jieun, Cho Sung Yoon, Park Sung Won, Jin Dong-Kyu, Park Hyung-D |
| [Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation]. Acta médica portuguesa 0 28 (1): 56-62. Mendes Catarina, Vaz Matos Inês, Ribeiro Luís, Oliveira Maria João, Cardoso Helena, Borges Tere |
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- Page last updated:Aug 16, 2022
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