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| 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 |
| Prevalence and Characteristics of Adrenal Tumors and Myelolipomas in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2020 Nov 26 (11): 1351-1365. Nermoen Ingrid, Falhammar Henr |
| Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India. Endocrine 2020 Sep . Gangodkar Priyanka, Khadilkar Vaman, Raghupathy P, Kumar Rakesh, Dayal Archana Arya, Dayal Devi, Ayyavoo Ahila, Godbole Tushar, Jahagirdar Rahul, Bhat Kavitha, Gupta Neerja, Kamalanathan Sadishkumar, Jagadeesh Sujatha, Ranade Shatakshi, Lohiya Nikhil, Oke Rashmi Lote, Ganesan Karthik, Khatod Kavita, Agarwal Meenal, Phadke Nikhil, Khadilkar Anurad |
| 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 |
| Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations. Journal of endocrinological investigation 2020 May . Elmougy F, Elsharkawy M, Hafez M, Atty S A, Baz H, Ibrahim A, Soliman H, Ekladious S, Abdullatif M, Thabet G, Rady N, Afif A, Tolba A, Zaki Z, Musa |
| 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 |
| Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia. The Journal of steroid biochemistry and molecular biology 2019 Dec 105554. Guarnotta Valentina, Niceta Marcello, Bono Marianna, Marchese Serena, Fabiano Carmelo, Indelicato Serena, Di Gaudio Francesca, Garofalo Piernicola, Giordano Car |
| 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 |
| Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker. The Australasian journal of dermatology 2019 Jan . Porriño-Bustamante María Librada, López-Nevot Miguel Ángel, Aneiros-Fernández José, Casado-Ruiz Jorge, García-Linares Susana, Pedrinacci-Rodríguez Susana, García-Lora Elena, Martín-Casares María Antonia, Fernández-Pugnaire María Antonia, Arias-Santiago Salvad |
| 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 |
| Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype. Annals of the New York Academy of Sciences 2017 Jun . Gurgov Semyon, Bernabé Kerlly J, Stites John, Cunniff Christopher M, Lin-Su Karen, Felsen Diane, New Maria I, Poppas Dix |
| The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort. Clinica chimica acta; international journal of clinical chemistry 2017 Jan 464 189-194. Khajuria Ragini, Walia Rama, Bhansali Anil, Prasad Rajend |
| A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics. European journal of human genetics : EJHG 2017 06 25 (6): 702-710. Doleschall Márton, Luczay Andrea, Koncz Klára, Hadzsiev Kinga, Erhardt Éva, Szilágyi Ágnes, Doleschall Zoltán, Németh Krisztina, Török Dóra, Prohászka Zoltán, Gereben Balázs, Fekete György, Gláz Edit, Igaz Péter, Korbonits Márta, Tóth Miklós, Rácz Károly, Patócs Atti |
| Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia. International journal of endocrinology 2017 2017 8984365. Neocleous Vassos, Fanis Pavlos, Toumba Meropi, Phedonos Alexia A P, Picolos Michalis, Andreou Elena, Kyriakides Tassos C, Tanteles George A, Shammas Christos, Phylactou Leonidas A, Skordis Nic |
| Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population. HLA 2016 Oct . Grubic Z, Maskalan M, Stingl Jankovic K, Zvecic S, Dumic Kubat K, Krnic N, Zunec R, Ille J, Kusec V, Dumic |
| Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction. European journal of endocrinology / European Federation of Endocrine Societies 2016 May . Carvalho Daniel F, Miranda Mirela C, Gomes Larissa G, Madureira Guiomar, Marcondes José Antonio Miguel, Billerbeck Ana E C, Rodrigues Andresa, Presti Paula F, Kuperman Hilton, Damiani Durval, Mendonca Berenice Bilharinho, Bachega Tania |
| 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 |
| 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 |
| CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay. Annals of laboratory medicine 2015 Sep 35 (5): 535-9. Hong Geehay, Park Hyung Doo, Choi Rihwa, Jin Dong Kyu, Kim Jae Hyeon, Ki Chang Seok, Lee Soo Youn, Song Junghan, Kim Jong W |
| 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 |
| Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations. Journal of endocrinological investigation 2015 Aug . Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic |
| 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 |
| A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia. Saudi medical journal 2015 Jan 36 (1): 113-6. Mohamed Sarar, El-Kholy Suzan, Al-Juryyan Nasir, Al-Nemri Abdulrahman M, Abu-Amero Khaled |
| 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 |
| [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:Oct 20, 2021
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