Search Results

There are 11601 results for: content related to: Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment

  1. Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency

    Acta Paediatrica

    Volume 88, Issue 3, March 1999, Pages: 275–283, LC Paulino, M Araujo, G Guerra Jr, SHVL Marini and MP De Mello

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.1999.tb01096.x

  2. CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

    Human Mutation

    Accepted manuscript online: 16 OCT 2017, Leandro Simonetti, Carlos D. Bruque, Cecilia S. Fernández, Belén Benavides-Mori, Marisol Delea, Jorge E. Kolomenski, Lucía D. Espeche, Noemí D. Buzzalino, Alejandro D. Nadra and Liliana Dain

    DOI: 10.1002/humu.23351

  3. Mutations in Steroid 21-Hydroxylase (CYP21)

    Human Mutation

    Volume 3, Issue 4, 1994, Pages: 373–378, Perrin C. White, Maria-Teresa Tusie-Luna, Maria I. New and Phyllis W. Speiser

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380030408

  4. Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients

    Clinical Endocrinology

    Volume 56, Issue 2, February 2002, Pages: 239–245, Liliana B. Dain, Noemí D. Buzzalino, Adriana Oneto, Susana Belli, Mirta Stivel, Titania Pasqualini, Carolina Minutolo, Eduardo H. Charreau and Liliana G. Alba

    Version of Record online : 5 MAR 2002, DOI: 10.1046/j.0300-0664.2001.01419.x

  5. The Adrenal Cortex and its Disorders

    Clinical Pediatric Endocrinology, Fifth Edition

    Charles G.D. Brook, Peter E. Clayton, Rosalind S. Brown, Martin O. Savage, Pages: 293–351, 2007

    Published Online : 4 OCT 2007, DOI: 10.1002/9780470987117.ch15

  6. Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21

    Human Mutation

    Volume 13, Issue 5, 1999, Pages: 385–389, Gita Ohlsson, Jørn Müller and Marianne Schwartz

    Version of Record online : 20 MAY 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:5<385::AID-HUMU7>3.0.CO;2-2

  7. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency

    Human Mutation

    Volume 5, Issue 2, 1995, Pages: 126–130, Benoit Barbat, Any Bogyo, Marie-Charles Raux-Demay, Frédéarique Kuttenn, Joelle Boué, Brigitte Simon-Bouy, Jean-Louis Serre, André Boué and Etienne Mornet

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380050205

  8. Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia

    Clinical Endocrinology

    Volume 53, Issue 4, October 2000, Pages: 419–422, Yong-Ho Lee, Eun-Sook Park, Shin-Hye Kang, Hogeun Kim, Jin-Yong Lee and Jin-Sung Lee

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1365-2265.2000.01090.x

  9. MOLECULAR ANALYSIS OF CYP21 GENE MUTATIONS CARRIED ON HLA-B14 POSITIVE HAPLOTYPES

    International Journal of Immunogenetics

    Volume 21, Issue 5, October 1994, Pages: 341–350, E. Dondi, M. Cuccia, E. Keller, M. Martinetti, D. Larizza and E. D. Albert

    Version of Record online : 2 APR 2007, DOI: 10.1111/j.1744-313X.1994.tb00204.x

  10. Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency

    American Journal of Medical Genetics

    Volume 61, Issue 1, 2 January 1996, Pages: 2–9, Selma Siegel Witchel, Peter A. Lee and Massimo Trucco

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960102)61:1<2::AID-AJMG1>3.0.CO;2-1

  11. HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH

    Prenatal Diagnosis

    Volume 8, Issue 2, February 1988, Pages: 131–143, Dr. H. Grosse-Wilde, E. Valentine-Thon, U. Vögeler, E. Passarge, F. Lorenzen, W. G. Sippell, F. Bidlingmaier and D. Knorr

    Version of Record online : 21 NOV 2005, DOI: 10.1002/pd.1970080207

  12. CYP21 mutations and congenital adrenal hyperplasia

    Clinical Genetics

    Volume 59, Issue 5, May 2001, Pages: 293–301, HH Lee

    Version of Record online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.590501.x

  13. Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

    Human Mutation

    Volume 13, Issue 6, 1999, Pages: 482–486, Gita Ohlsson, Jørn Müller, Niels Erik Skakkebæk and Marianne Schwartz

    Version of Record online : 16 JUN 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:6<482::AID-HUMU8>3.0.CO;2-0

  14. Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia

    Clinical Genetics

    Volume 76, Issue 6, December 2009, Pages: 503–510, EL Silveira, RH Elnecave, EP Dos Santos, V Moura, EM Pinto, I Van Der Linden Nader, BB Mendonca and TASS Bachega

    Version of Record online : 20 NOV 2009, DOI: 10.1111/j.1399-0004.2009.01274.x

  15. Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms

    Clinical Endocrinology

    Volume 48, Issue 6, June 1998, Pages: 707–711, Rumsby, Avey, Conway and Honour

    Version of Record online : 4 JAN 2002, DOI: 10.1046/j.1365-2265.1998.00402.x

  16. No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours

    Clinical Endocrinology

    Volume 50, Issue 3, March 1999, Pages: 343–346, Magnus Kjellman, Mikael Holst, Martin Bäckdahl, Catharina Larsson, Lars-Ove Farnebo and Anna Wedell

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1365-2265.1999.00655.x

  17. An Update of Congenital Adrenal Hyperplasia

    Annals of the New York Academy of Sciences

    Volume 1038, Issue 1, December 2004, Pages: 14–43, MARIA I. NEW

    Version of Record online : 16 JAN 2006, DOI: 10.1196/annals.1315.009

  18. Novel mutations in the human CYP21 gene

    Prenatal Diagnosis

    Volume 21, Issue 10, October 2001, Pages: 885–889, Antti Levo and Jukka Partanen

    Version of Record online : 23 OCT 2001, DOI: 10.1002/pd.167

  19. Identification of heterozygotic carriers of 21-hydroxylase deficiency: Sensitivity of ACTH stimulation tests

    American Journal of Medical Genetics

    Volume 76, Issue 4, 1 April 1998, Pages: 337–342, Selma F. Witchel and Peter A. Lee

    Version of Record online : 6 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980401)76:4<337::AID-AJMG9>3.0.CO;2-M

  20. Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis

    Prenatal Diagnosis

    Volume 26, Issue 12, December 2006, Pages: 1172–1178, B. Ezquieta, M. Beneyto, R. Muñoz-Pacheco, R. Barrio, M. Oyarzabal, J. L. Lechuga, C. Luzuriaga, F. Hermoso, S. Quinteiro and S. Martinez

    Version of Record online : 16 OCT 2006, DOI: 10.1002/pd.1584