Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 132 Records) |
| Query Trace: Hyperplasia and CYP21A2[original query] |
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| Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population. Journal of endocrinological investigation 2021 8 45 (2): 347-359. Mahmoud R A A, Amr N H, Toaima N N, Kamal T M, Elsedfy H |
| Low Adrenomedullary Function Predicts Acute Illness in Infants With Classical Congenital Adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism 2021 8 107 (1): e264-e271. Weber Jonathan, Tanawattanacharoen Veeraya K, Seagroves Amy, Liang Mark C, Koppin Christina M, Ross Heather M, Bachega Tania A S S, Geffner Mitchell E, Serrano-Gonzalez Monica, Bhullar Gagandeep, Kim Mimi |
| Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development. Diagnostics (Basel, Switzerland) 2021 6 11 (6): . Lidaka Lasma, Bekere Laine, Lazdane Gunta, Dzivite-Krisane Iveta, Kivite-Urtane Anda, Gailite Lin |
| Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia. Journal of clinical medicine 2021 4 10 (6): . Nan Madalina Nicoleta, Roig Rosa, Martínez Susana, Rives Jose, Urgell Eulàlia, Espinós Juan José, Tirado Mireia, Carreras Gemma, Aulinas Anna, Webb Susan M, Corcoy Rosa, Blanco-Vaca Francisco, Tondo Mire |
| 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 |
| Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia. The Ceylon medical journal 2021 11 65 (4): 95-104. Somasundaram Praveenan, Hewage Sudeshini, De Silva Harshi |
| Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India. European journal of medical genetics 2021 10 64 (12): 104369. Ravichandran Lavanya, Korula Sophy, Asha H S, Varghese Deny, Parthiban R , Johnson Jabasteen, Ishwarya Janani, Shetty Sahana, Cherian Kripa Elizabeth, Jebasingh Felix, Kapoor Nitin, Pachat Divya, Mathai Sarah, Simon Anna, Rajaratnam Simon, Paul Thomas V, Thomas Nihal, Chapla Aar |
| Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2021 10 30 (4): 187-193. Itonaga Tomoyo, Akiba Kazuhisa, Hasegawa Yukihi |
| Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients. The Journal of steroid biochemistry and molecular biology 2022 9 225 106192. Wan Zhihan, Wang Wencui, Zheng Sichang, Han Rulai, Xie Xiaoyan, Zhao Yu, Wang Weiqing, Sun Shouyue, Ye L |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia. Indian journal of pediatrics 2022 1 . Saraf Shaily, Srivastava Priyanka, Panigrahi Inusha, Seenappa Venu, Kumar Rakesh, Yadav Jaivinder, Daniel Roshan, Dayal De |
| Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center. Hormones (Athens, Greece) 2022 1 21 (2): 241-249. Kurzy?ska Anna, Skalniak Anna, Franson Kim, Bistika Viola, Hubalewska-Dydejczyk Alicja, Przybylik-Mazurek Elwi |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands. Human genomics 2025 1 19 (1): 3. Yunpeng Wang, Gaohui Zhu, Danhua Li, Yu Pan, Rong Li, Ting Zhou, Aiping Mao, Libao Chen, Jing Zhu, Min Z |
- Page last reviewed:Feb 1, 2024
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