HuGE Literature Finder
Records 1-30
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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 |
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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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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 |
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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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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 |
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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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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 |
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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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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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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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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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 |
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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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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 |
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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 |
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The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
Clinical endocrinology 2015 Apr 82 (4): 543-9. Livadas S, Dracopoulou M, Dastamani A, Sertedaki A, Maniati-Christidi M, Magiakou A-M, Kanaka-Gantenbein C, Chrousos G P, Dacou-Voutetakis |
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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 |
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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 |
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CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles.
European journal of endocrinology / European Federation of Endocrine Societies 2014 Dec 171 (6): 743-50. Brønstad Ingeborg, Skinningsrud Beate, Bratland Eirik, Løvås Kristian, Undlien Dag, Sverre Husebye Eystein, Wolff Anette Susanne B |
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Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.
JAMA pediatrics 2014 Jun 168 (6): 567-74. Gidlöf Sebastian, Wedell Anna, Guthenberg Claes, von Döbeln Ulrika, Nordenström An |
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Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.
PloS one 2014 9 (9): e107244. Doleschall Márton, Szabó Julianna Anna, Pázmándi Júlia, Szilágyi Ágnes, Koncz Klára, Farkas Henriette, Tóth Miklós, Igaz Péter, Gláz Edit, Prohászka Zoltán, Korbonits Márta, Rácz Károly, Füst George, Patócs Atti |
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High carrier frequency of 21-hydroxylase deficiency in Cyprus.
Clinical genetics 2013 Dec 84 (6): 585-8. Phedonos A A P, Shammas C, Skordis N, Kyriakides T C, Neocleous V, Phylactou L |
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Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.
The Journal of molecular diagnostics : JMD 2013 Nov 15 (6): 745-53. Xu Zhi, Chen Wuyan, Merke Deborah P, McDonnell Nazli |
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A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Gene 2013 Sep 526 (2): 239-45. Coeli-Lacchini Fernanda Borchers, Turatti Wendy, Elias Paula Conde Lamparelli, Elias Lucila Leico Kagohara, Martinelli Carlos Eduardo, Moreira Ayrton Custodio, Antonini Sonir Roberto, de Castro Margar |
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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.
Annals of pediatric endocrinology & metabolism 2013 Sep 18 (3): 128-34. Yoo Yangho, Chang Mi Sun, Lee Jieun, Cho Sung Yoon, Park Sung Won, Jin Dong-Kyu, Park Hyung-D |
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CYP21A2 genotypes do not predict the severity of hyperandrogenic manifestations in the nonclassical form of congenital adrenal hyperplasia.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2013 Apr 45 (4): 301-7. Moura-Massari V O, Bugano D D G, Marcondes J A M, Gomes L G, Mendonca B B, Bachega T A S |
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Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
The Journal of clinical endocrinology and metabolism 2013 Feb 98 (2): E346-54. Krone Nils, Rose Ian T, Willis Debbie S, Hodson James, Wild Sarah H, Doherty Emma J, Hahner Stefanie, Parajes Silvia, Stimson Roland H, Han Thang S, Carroll Paul V, Conway Gerry S, Walker Brian R, MacDonald Fiona, Ross Richard J, Arlt Wiebke, |
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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 |
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Bone Mineral Density, Bone Markers, and Fractures in Adult Males with Congenital Adrenal Hyperplasia.
European journal of endocrinology / European Federation of Endocrine Societies 2012 Dec . Falhammar H, Filipsson Nystrom H, Wedell A, Brismar K, Thorén M |
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Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Human genetics 2012 Dec 131 (12): 1889-94. Chen Wuyan, Xu Zhi, Nishitani Miki, Van Ryzin Carol, McDonnell Nazli B, Merke Deborah |
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GENETIC DEFECTS IN THE CYP21A2 GENE IN HETEROZYGOUS GIRLS WITH PREMATURE ADRENARCHE AND ADOLESCENT FEMALES WITH HYPERANDROGENEMIA.
Georgian medical news 2012 Sep (210): 210. Neocleous V, Shammas C, Phedonos A, Karaoli E, Kyriakou A, Toumba M, Phylactou L, Skordis N |
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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 |
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Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.
Clinical endocrinology 2012 Feb . Malikova J, Votava F, Vrzalova Z, Lebl J, Cinek O |
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Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
Clinical endocrinology 2011 Oct 75 (4): 427-35. Marino Roxana, Ramirez Pablo, Galeano Jesica, Perez Garrido Natalia, Rocco Carlos, Ciaccio Marta, Warman Diana M, Guercio Gabriela, Chaler Eduardo, Maceiras Mercedes, Bergadá Ignacio, Gryngarten Mirta, Balbi Viviana, Pardes Esther, Rivarola Marco A, Belgorosky Alic |
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Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
European journal of endocrinology / European Federation of Endocrine Societies 2011 Aug 165 (2): 307-14. Ghizzoni Lucia, Cappa Marco, Vottero Alessandra, Ubertini Graziamaria, Carta Daniela, Di Iorgi Natascia, Gasco Valentina, Marchesi Maddalena, Raggi Vera, Ibba Anastasia, Napoli Flavia, Massimi Arianna, Maghnie Mohamad, Loche Sandro, Porzio Ottav |
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Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
European journal of endocrinology / European Federation of Endocrine Societies 2011 Feb 164 (2): 285-93. Falhammar Henrik, Filipsson Nyström Helena, Wedell Anna, Thorén Mar |
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Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients.
BMC endocrine disorders 2011 11 (1): 5. Khan Aysha H, Aban Muniba, Raza Jamal, Ul Haq Naeem, Jabbar Abdul, Moatter Tar |
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Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
Prenatal diagnosis 2010 Aug 30 (8): 758-63. Ezquieta Begoña, Santomé Luis, Barrio Raquel, Barrionuevo Jose L, López-Siguero Juan P, Oliver Antonio, Ramírez Joaquín, Rodríguez Ildefonso, Muñoz-Pacheco Rafa |
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Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2010 May 26 (5): 319-24. Paris Françoise, Tardy Véronique, Chalançon Anne, Picot Marie Christine, Morel Yves, Sultan Charl |
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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 |
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Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.
Clinical genetics 2009 Dec 76 (6): 503-10. Silveira E L, Elnecave R H, dos Santos E P, Moura V, Pinto E M, van der Linden Nader I, Mendonca B B, Bachega T A S |
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Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
Clinical biochemistry 2009 Sep 42 (13-14): 1363-7. Neocleous Vassos, Ioannou Yiannis S, Bartsota Margarita, Costi Constandina, Skordis Nicos, Phylactou Leonidas |
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Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.
Molecular immunology 2009 Aug 46 (13): 2623-9. Blaskó Bernadett, Bánlaki Zsófia, Gyapay Gabor, Pozsonyi Eva, Sasvári-Székely Mária, Rajczy Katalin, Füst George, Szilágyi Agn |
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Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
International journal of andrology 2009 Jun . Mouritsen A, Jørgensen N, Main KM, Schwartz M, Juul A |
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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 |
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The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
Molecular genetics and metabolism 2009 May 97 (1): 75-9. Lee Yann-Jinn, Tsai Li-Ping, Niu Dau-Ming, Shu San-Ging, Chao Mei-Chyn, Lee Hsien-Hsiu |
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[Mutational spectrum of the gene for 21-hydroxylase in the patients with congenital adrenal hyperplasia from Bashkortostan].
Genetika 2008 Oct 44 (10): 1420-8. Akhmetova V L, Ramova Z F, Malievski? O A, Khusnutdinova E |
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Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.
Journal of pediatric endocrinology & metabolism : JPEM 2008 Aug 21 (8): 781-7. Sadeghi F, Yurur-Kutlay N, Berberoglu M, Cetinkaya E, Aycan Z, Kara C, Ilgin Ruhi H, Ocal G, Siklar Z, Elhan A, Tukun |
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Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
Molecular genetics and metabolism 2008 Apr 93 (4): 450-7. Lee Hsien-Hsiung, Lee Yann-Jinn, Wang Yu-Mei, Chao Hsiang-Tai, Niu Dau-Ming, Chao Mei-Chyn, Tsai Fuu-Jen, Lo Fu-Sung, Lin Shio-Je |
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The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.
Clinical endocrinology 2008 Feb 68 (2): 226-32. Rocha Rosana O, Billerbeck Ana Elisa C, Pinto Emília M, Melo Karla F S, Lin Chin J, Longui Carlos A, Mendonca Berenice B, Bachega Tânia A S |
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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 |
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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 |
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Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Molecular genetics and metabolism 2007 Apr 90 (4): 414-21. Wilson Robert C, Nimkarn Saroj, Dumic Miro, Obeid Jihad, Azar Maryam Razzaghy, Azar Maryam, Najmabadi Hossein, Saffari Fatemeh, New Maria |
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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 |
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[Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening].
Medicina clínica 2005 Oct 125 (13): 493-5. Ezquieta Begoña, Ruano Miguel L F, Dulín Elena, Arnao Dolores R, Rodríguez Ampa |
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21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 2005 Oct 90 (10): 5769-73. Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E |
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Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).
The Journal of molecular diagnostics : JMD 2005 May 7 (2): 236-46. Keen-Kim Dianne, Redman Joy B, Alanes Reno U, Eachus Michele M, Wilson Robert C, New Maria I, Nakamoto Jon M, Fenwick Raymond |
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Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population.
The Journal of clinical endocrinology and metabolism 2005 Feb 90 (2): 775-8. Baumgartner-Parzer S M, Nowotny P, Heinze G, Waldhäusl W, Vierhapper |
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Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2003 Oct 36 (10): 1311-8. Torres N, Mello M P, Germano C M R, Elias L L K, Moreira A C, Castro |
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Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population.
The Journal of clinical endocrinology and metabolism 2002 Feb 87 (2): 735-41. Olney Robert C, Mougey Edward B, Wang Jianwei, Shulman Dorothy I, Sylvester James |
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[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 28, 2020
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