HuGE Literature Finder
Records 1-30
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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 |
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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 |
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The prevalence of 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 |
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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 |
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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 |
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Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Molecular diagnosis & therapy 2019 Jul . Concolino Pao |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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A Single Nucleotide Variant in the Promoter Region of 17?-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 |
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[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 |
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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 |
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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 |
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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 |
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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 |
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- Page last updated:Jan 19, 2021
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