Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 201 Records) |
Query Trace: Congenital Adrenal Hyperplasia[original query] |
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Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency. Journal of clinical medicine 2022 7 11 (13): . Paragliola Rosa Maria, Perrucci Alessia, Foca Laura, Urbani Andrea, Concolino Pao |
Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations. European journal of endocrinology 2022 7 187 (3): K27-K32. Dursun Fatma, Genc Hulya Maras, Mine Y?lmaz Ay?e, Tas Ibrahim, Eser Metin, Pehlivanoglu Cemile, Yilmaz Betul Karademir, Guran Tul |
Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature. Journal of endocrinological investigation 2022 Jul . Gusmano C, Cannarella R, Crafa A, Barbagallo F, La Vignera S, Condorelli R A, Calogero A |
Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia. MethodsX 2022 6 9 101748. Ravichandran Lavanya, Varghese Deny, R Parthiban, S Asha H, Korula Sophy, Thomas Nihal, Chapla Aar |
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing. Clinical chemistry 2022 6 68 (7): 927-939. Liu Yingdi, Chen Miaomiao, Liu Jing, Mao Aiping, Teng Yanling, Yan Huiming, Zhu Huimin, Li Zhuo, Liang Desheng, Wu Lingqi |
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation. Indian journal of endocrinology and metabolism 2022 3 25 (6): 532-537. Sridhar Subbiah, Govindhan Ramajayam, Soundian Balasankar, Poomarimuthu Maheshkumar, Nallan Karuppasamy, Kumar Santhanakrishnan Ramesh, Eagappan Subbiah, Natarajan Vasanthiy, Jayaraman Sanguma |
Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia. Archives of endocrinology and metabolism 2022 3 66 (2): 168-175. Silva Rita Santos, Carvalho Berta, Pedro Jorge, Castro-Correia Cíntia, Carvalho Davide, Carvalho Filipa, Fontoura Manu |
Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. Frontiers in endocrinology 2022 2 12 788812. Kocova Mirjana, Concolino Paola, Falhammar Henr |
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants. Genetic testing and molecular biomarkers 2022 12 26 (12): 573-581. Zhang Wenyan, Jin Feng, Guo Ruolan, Qi Zhan, Wang Yaling, Li Xueling, Wu Yali, Li Wei, Hu Xuyun, Hao Chanju |
Congenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden. Frontiers in endocrinology 2022 12 13 1017303. Sahlander Fredrik, Bensing Sophie, Falhammar Henr |
Pharmacogenomic markers of glucocorticoid response in congenital adrenal hyperplasia. PloS one 2022 12 17 (12): e0279298. Botelho Barra Cristina, Villela Thais Ramos, Soares Nedstâni de Freitas, Colosimo Enrico Antônio, Belisário André Rolim, E Silva Ana Cristina Simões, Silva Ivani Nova |
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor. European journal of medical genetics 2022 11 65 (12): 104654. Aycan Zehra, Keskin Melik?ah, Lafc? Naz Güleray, Sava?-Erdeve ?enay, Ba? Firdevs, Poyrazo?lu ?ükran, Öztürk P?nar, Parlak Mesut, Ercan Oya, Güran Tülay, Hatipo?lu Nihal, Uçaktürk Seyit Ahmet, Çatl? Gönül, Akyürek Nesibe, Önder A?an, K?l?nç Suna, Çetinkaya Sem |
Fertility and pregnancy outcomes in women with nonclassic 21-hydroxylase deficiency. Clinical endocrinology 2022 11 98 (3): 315-322. Carrière Camille, Nguyen Lee S, Courtillot Carine, Tejedor Isabelle, Chakhtoura Zeina, Bellanné-Chantelot Christine, Tardy Véronique, Leban Monique, Touraine Philippe, Bachelot An |
Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. Scientific reports 2022 10 12 (1): 17807. Stachowiak Monika, Szczerbal Izabela, Nowacka-Woszuk Joanna, Nowak Tomasz, Sowinska Natalia, Lukomska Anna, Gogulski Maciej, Badura Malgorzata, Sklorz-Mencel Karolina, Jagodka Dariusz, Nizanski Wojciech, Dzimira Stanislaw, Switonski Mar |
Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Study of a Cohort of Patients from a Single Italian Center. Children (Basel, Switzerland) 2023 9 10 (9): . Rita Ortolano, Alessandra Cassio, Randa S Alqaisi, Egidio Candela, Valeria Di Natale, Valentina Assirelli, Luca Bernardini, Elisa Bortolamedi, Erika Cantarelli, Beniamino Corcioni, Matteo Renzulli, Antonio Balsamo, Federico Baron |
Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen. International journal of neonatal screening 2023 9 9 (3): . Bonnie McCann-Crosby, Mark C Liang, Mitchell E Geffner, Christina M Koppin, Nicole R Fraga, V Reid Sutton, Lefkothea P Karaviti, Gagandeep Bhullar, Mimi S K |
Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples. Journal of pediatric endocrinology & metabolism : JPEM 2023 9 . Karissa Ludwig, Fei Lai, Veronica Wiley, Anja Ravine, Shubha Srinivas |
Genotype-Specific Cortisol Reserve in a Cohort of Subjects with Non-Classic Congenital Adrenal Hyperplasia (NCCAH). The Journal of clinical endocrinology and metabolism 2023 9 . Ilana Koren, Naomi Weintrob, Rebekka Kebesch, Hussein Majdoub, Nili Stein, Shulamit Naor, Anat Segev-Beck |
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. Frontiers in endocrinology 2023 6 14 1146768. Nina Makretskaya, Natalia Kalinchenko, Inna Tebieva, Sofya Ionova, Rena Zinchenko, Andrey Marakhonov, Anatoly Tiulpak |
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. Frontiers in endocrinology 2023 6 14 1156616. Pavlos Fanis, Nicos Skordis, Meropi Toumba, Michalis Picolos, George A Tanteles, Vassos Neocleous, Leonidas A Phylact |
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Frontiers in endocrinology 2023 4 14 1134133. Saho Robert, Dolzan Vita, Zerjav Tansek Mojca, Pastorakova Andrea, Petrovic Robert, Knapkova Maria, Trebusak Podkrajsek Katarina, Suput Omladic Jasna, Bertok Sara, Avbelj Stefanija Magdalena, Kotnik Primoz, Battelino Tadej, Pribilincova Zuzana, Groselj U |
Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review. Archives of endocrinology and metabolism 2023 4 67 (3): 427-441. Hosomi Silvério S, Salles Igor C, Bachega Tânia A S |
Congenital Adrenal Hyperplasia and Human Leukocyte Antigen B: A Meta-Analysis. Cureus 2023 4 15 (3): e35900. Thibaut Dylan, Walter Madison R, McGonegal Courtney, Daniel Ryan, Goodman Jer |
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency. International journal of neonatal screening 2023 3 9 (1): . Tippabathani Jayakrishna, Seenappa Venu, Murugan Alagupandian, Phani Nagaraja Mahishi, Hampe Mahesh H, Appaswamy Giridharan, Sadashiv Gambhir Praka |
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS). Hormones (Athens, Greece) 2023 3 . Monteiro Ana, Pavithran Praveen V, Puthukulangara Manuprasad, Bhavani Nisha, Nampoothiri Sheela, Yesodharan Dhanya, Kumaran Resh |
Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X. Genes 2023 2 14 (2): . Lao Qizong, Zhou Kiet, Parker Megan, Faucz Fabio R, Merke Deborah |
Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays. Biomolecules 2023 12 13 (12): . Maria Natalia Rojas Velazquez, Søren Therkelsen, Amit V Pand |
CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS. Biomedicines 2024 7 12 (7): . Ralitsa Robeva, Silvia Andonova, Tihomir Todorov, Aylin Feyzullova, Atanaska Elenkova, Georgi Kirilov, Alexey Savov, Sabina Zacharieva, Albena Todoro |
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS. European journal of medical genetics 2024 6 69 104950. Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Hua |
- Page last reviewed:Feb 1, 2024
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