Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Counseling and CYP21A2[original query] |
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| CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. Molecular genetics and metabolism 2006 May 88 (1): 58-65. Friães Ana, Rêgo Ana Toste, Aragüés José Maria, Moura Luís Francisco, Mirante Alice, Mascarenhas Mário Rui, Kay Teresa Taylor, Lopes Lurdes Afonso, Rodrigues José Cidade, Guerra Sílvia, Dias Teresa, Teles Alberto Galvão, Gonçalves Jo |
| High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. PloS one 2008 3 (5): e2138. Parajes Silvia, Quinteiro Celsa, Domínguez Fernando, Loidi Lourd |
| CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clinical chemistry and laboratory medicine : CCLM / FESCC 2008 46 (12): 1707-13. Abid Fatima, Tardy Véronique, Gaouzi Ahmed, El Hessni Aboubaker, Morel Yves, Chabraoui Layac |
| Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. The Journal of clinical endocrinology and metabolism 2009 May 94 (5): 1570-8. Bidet Maud, Bellanné-Chantelot Christine, Galand-Portier Marie-Béatrice, Tardy Véronique, Billaud Line, Laborde Kathleen, Coussieu Christiane, Morel Yves, Vaury Christelle, Golmard Jean-Louis, Claustre Aurélie, Mornet Etienne, Chakhtoura Zeina, Mowszowicz Irene, Bachelot Anne, Touraine Philippe, Kuttenn Frédériq |
| Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The Journal of clinical endocrinology and metabolism 2010 1 95 (3): 1182-90. Bidet Maud, Bellanné-Chantelot Christine, Galand-Portier Marie-Béatrice, Golmard Jean-Louis, Tardy Véronique, Morel Yves, Clauin Séverine, Coussieu Christiane, Boudou Philippe, Mowzowicz Irene, Bachelot Anne, Touraine Philippe, Kuttenn |
| Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. The Journal of clinical endocrinology and metabolism 2010 Mar 95 (3): 1288-300. Tardy V, Menassa R, Sulmont V, Lienhardt-Roussie A, Lecointre C, Brauner R, David M, Morel |
| Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia. Indian journal of endocrinology and metabolism 2012 May 16 (3): 384-8. Marumudi Eunice, Sharma Arundhati, Kulshreshtha Bindu, Khadgawat Rajesh, Khurana Madan L, Ammini Ariachery |
| Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proceedings of the National Academy of Sciences of the United States of America 2013 Jan . New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T |
| 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 |
| Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2015 9 (3): 136-43. Serra Alexandre, Denzer Friederike, Hiort Olaf, Barth Thomas F, Henne-Bruns Doris, Barbi Gotthold, Rettenberger Günther, Wabitsch Martin, Just Walter, Leriche Clothil |
| [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 |
| 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 |
| 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 |
| Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia. Endocrine connections 2018 10 7 (11): 1136-41. Liu Qiuli, Wang Lin-Ang, Su Jian, Tong Dali, Lan Weihua, Wang Luofu, Liu Gaolei, Zhang Jun, Zhang Victor Wei, Zhang Dianzheng, Chen Rongrong, Zhu Qingyi, Jiang J |
| 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 |
| High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening. Journal of pediatric endocrinology & metabolism : JPEM 2019 4 32 (5): 499-504. Castro Patrícia S, Rassi Tatiana O, Araujo Raquel F, Pezzuti Isabela L, Rodrigues Andresa S, Bachega Tania A S S, Silva Ivani |
| Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinical biochemistry 2019 4 68 44-49. Xu Jing, Li P |
| p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche. International journal of endocrinology 2020 7 2020 4329791. Soveizi Mahdieh, Mahdieh Nejat, Setoodeh Aria, Sayarifard Fatemeh, Abbasi Farzaneh, Bose Himangshu S, Rabbani Bahareh, Rabbani A |
| 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 |
| 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 |
| 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 |
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