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

A simple salting out procedure for extracting DNA from human nucleated cells

Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.3.1215 · Cited by 20,341 · see citing works

The nuclear receptor superfamily: the second decade

Mangelsdorf, D. J., Thummel, C., Beato, M., Herrlich, P., Schütz, G., Umesono, K., Blumberg, B., Kastner, P., Mark, M., Chambon, P., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90199-x · Cited by 6,964 · see citing works

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Spada, A. L., Wilson, E. M., Lubahn, D. B., Harding, A., & Fischbeck, K. (1991) · Nature · doi:10.1038/352077a0 · Cited by 2,801 · see citing works

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Allen, R. C., Zoghbi, H. Y., Moseley, A., Rosenblatt, H. M., & Belmont, J. W. (1992) · PubMed · Cited by 1,683 · see citing works

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*

White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432 · see citing works

The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function

Chamberlain, N. L., Driver, E. D., & Miesfeld, R. L. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.15.3181 · Cited by 1,149 · see citing works

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

White, P. C. (2000) · Endocrine Reviews · doi:10.1210/er.21.3.245 · Cited by 877 · see citing works

The CAG repeat within the androgen receptor gene and its relationship to prostate cancer

Giovannucci, E. L., Stampfer, M. J., Krithivas, K., Brown, M. A., Brufsky, A., Talcott, J. A., Hennekens, C. H., & Kantoff, P. W. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.7.3320 · Cited by 872 · see citing works

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Speiser, P. W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M. T., Lesser, M., New, M. I., & White, P. C. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115897 · Cited by 572 · see citing works

Structure of human steroid 21-hydroxylase genes.

White, P. C., New, M. I., & Dupont, B. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.14.5111 · Cited by 569 · see citing works

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age

Busque, L., Mio, R., Mattioli, J., Brais, E., Blais, N., Lalonde, Y., Maragh, M., & Gilliland, D. (1996) · Blood · doi:10.1182/blood.v88.1.59.59 · Cited by 543 · see citing works

Long Polyglutamine Tracts in the Androgen Receptor Are Associated with ReducedTrans-Activation, Impaired Sperm Production, and Male Infertility1

Tut, T. G., Ghadessy, F. J., Trifiro, M. A., Pinsky, L., & Yong, E. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.11.4385 · Cited by 520 · see citing works

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age

Busque, L., Mio, R., Mattioli, J., et al. (1996) · Blood · doi:10.1182/blood.v88.1.59.bloodjournal88159 · Cited by 462 · see citing works

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

Sharp, A. J., Robinson, D., & Jacobs, P. A. (2000) · Human Genetics · doi:10.1007/s004390000382 · Cited by 405 · see citing works

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation

Wedell, A. (1994) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.78.5.1145 · Cited by 370 · see citing works

Long Polyglutamine Tracts in the Androgen Receptor Are Associated with Reduced Trans-Activation, Impaired Sperm Production, and Male Infertility

Tut, T. G. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.82.11.3777 · Cited by 365 · see citing works

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype

Wilson, R. C. (1995) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.80.8.2322 · Cited by 324 · see citing works

Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines

Beilin, J., Ball, E., Favaloro, J., & Zajac, J. D. (2000) · Journal of Molecular Endocrinology · doi:10.1677/jme.0.0250085 · Cited by 265 · see citing works

Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.

Tusie-Luna, M. T., Traktman, P., & White, P. C. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)45304-x · Cited by 254 · see citing works

The Androgen Receptor CAG Repeat Polymorphism and X-Chromosome Inactivation in Australian Caucasian Women with Infertility Related to Polycystic Ovary Syndrome

Hickey, T. E., Chandy, A., & Norman, R. J. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.1.8137 · Cited by 204 · see citing works

Effects of Individual Mutations in the P-450(C21) Pseudogene on the P-450(C21) Activity and Their Distribution in the Patient Genomes of Congenital Steroid 21-Hydroxylase Deficiency1

Higashi, Y., Hiromasa, T., Tanae, A., Miki, T., Nakura, J., Kondo, T., Ohura, T., Ogawa, E., Nakayama, K., & Fujii-Kuriyama, Y. (1991) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a123433 · Cited by 201 · see citing works

Tissue specificity of X-chromosome inactivation patterns

Gale, R. E., Wheadon, H., Boulos, P. B., & Linch, D. C. (1994) · Blood · doi:10.1182/blood.v83.10.2899.2899 · Cited by 179 · see citing works

Androgen Receptor Gene CAG Repeat Polymorphism in the Development of Ovarian Hyperandrogenism

Ibáñez, L., Ong, K. K., Mongan, N. P., Jääskeläinen, J., Marcos, M. V., Hughes, I. A., de Zegher, F., & Dunger, D. B. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021791 · Cited by 179 · see citing works

Heritability of X chromosome--inactivation phenotype in a large family.

Naumova, A. K., Plenge, R. M., Bird, L. M., Leppert, M., Morgan, K., Willard, H. F., & Sapienza, C. (1996) · PubMed Central · Cited by 168 · see citing works

[Genital findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome; morphology, frequency, development and heredity of the different genital forms].

Prader, A. (1954) · PubMed · Cited by 151 · see citing works

(CAG)nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French–German population

Correa-Cerro, L. S., Wöhr, G., Häussler, J., Berthon, P., Drelon, E., Mangin, P., Fournier, G., Cussenot, O., Kraus, P., Just, W., et al. (1999) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200298 · Cited by 146 · see citing works

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

Pegoraro, E., Schimke, R. N., Arahata, K., Hayashi, Y., Stern, H. J., Marks, H. G., Glasberg, M. R., Carroll, J. E., Taber, J. W., & Wessel, H. B. (1994) · PubMed Central · Cited by 139 · see citing works

Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated with Confined Placental Mosaicism

Lau, A., Brown, C. J., Peñaherrera, M. S., Langlois, S., Kalousek, D. K., & Robinson, W. P. (1997) · The American Journal of Human Genetics · doi:10.1086/301651 · Cited by 120 · see citing works

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency¹

Bachega, T. A. S. S., Billerbeck, A. E. C., Madureira, G., Marcondes, J. A. M., Longui, C. A., Leite, M. V., Arnhold, I. J. P., & Mendonca, B. B. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.12.5350 · Cited by 108 · see citing works

CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency

Balsamo, A., Cicognani, A., Baldazzi, L., Barbaro, M., Baronio, F., Gennari, M., Bal, M., Cassio, A., Kontaxaki, K., & Cacciari, E. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030123 · Cited by 102 · see citing works

Androgen receptor-mediated hypersensitivity to androgens in women with nonhyperandrogenic hirsutism: skewing of X-chromosome inactivation.

Vottero, A., Stratakis, C. A., Ghizzoni, L., Longui, C., Karl, M., & Chrousos, G. (1999) · Journal of Clinical Endocrinology and Metabolism · doi:10.1210/jcem.84.3.5540 · Cited by 95 · see citing works

High frequency of skewed X inactivation in young breast cancer patients

Kristiansen, M. B., Langerød, A., Knudsen, G. P., Weber, B. L., Børresen-Dale, A.-L., & Ørstavik, K. H. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.1.30 · Cited by 86 · see citing works

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

Bachega, T. A. S. S. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.83.12.4416 · Cited by 81 · see citing works

The Role of the CAG Repeat Polymorphism in the Androgen Receptor Gene and of Skewed X-Chromosome Inactivation, in the Pathogenesis of Hirsutism1

Calvo, R. M., Asunción, M., Sancho, J., Millán, J. L. S., & Escobar-Morreale, H. F. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.4.6561 · Cited by 76 · see citing works

Size polymorphisms of the androgen receptor among female Hispanics and correlation with androgenic characteristics.

Legro, R. S., Shahbahrami, B., Løbo, R. A., & Kovacs, B. W. (1994) · PubMed · Cited by 74 · see citing works

Clinical paediatric endocrinology

Byrne, G. (1990) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.1990.tb125162.x · Cited by 67 · see citing works

Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect

Billerbeck, A. E. C., Mendonca, B. B., Pinto, E. M., Madureira, G., Arnhold, I. J. P., & Bachega, T. A. S. S. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2001-011939 · Cited by 65 · see citing works

The Role of the CAG Repeat Polymorphism in the Androgen Receptor Gene and of Skewed X-Chromosome Inactivation, in the Pathogenesis of Hirsutism

Calvo, R. M. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.4.1735 · Cited by 65 · see citing works

X-Inactivation Patterns in Human Embryonic and Extra-embryonic Tissues

Zeng, S. M., & Yankowitz, J. (2003) · Placenta · doi:10.1053/plac.2002.0889 · Cited by 61 · see citing works

Androgen receptor gene CAG length polymorphism in women with polycystic ovary syndrome

Jääskeläinen, J., Korhonen, S., Voutilainen, R., Hippeläinen, M., & Heinonen, S. T. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2004.11.080 · Cited by 61 · see citing works

Androgen Receptor-Mediated Hypersensitivity to Androgens in Women with Nonhyperandrogenic Hirsutism: Skewing of X-Chromosome Inactivation

Vottero, A. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.84.3.1091 · Cited by 60 · see citing works

X-inactivation analysis in the 1990s: promise and potential problems

Busque, L., & Gilliland, D. (1998) · Leukemia · doi:10.1038/sj.leu.2400936 · Cited by 56 · see citing works

Functional Characterization of Truncated Growth Hormone (GH) Receptor-(1–277) Causing Partial GH Insensitivity Syndrome with High GH-Binding Protein1

Iida, K., Takahashi, Y., Kaji, H., et al. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.3.5566 · Cited by 51 · see citing works

X Chromosome Inactivation Patterns in Normal Females

Racchi, O., Mangerini, R., Rapezzi, D., Rolfo, M., Gaetani, G. F., & Ferraris, A. M. (1998) · Blood Cells Molecules and Diseases · doi:10.1006/bcmd.1998.0213 · Cited by 46 · see citing works

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

Billerbeck, A. E. C., Bachega, T. A. S. S., Frazzatto, E., Nishi, M. Y., Goldberg, A. C., Marin, M. L. C., Madureira, G., Monte, O., Arnhold, I. J. P., & Mendonca, B. B. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.8.5937 · Cited by 44 · see citing works

An Androgen Receptor Gene Mutation (E653K) in a Family with Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency as well as in Partial Androgen Insensitivity

Giwercman, Y. L., Nordenskjöld, A., Ritzén, E. M., Nilsson, K. O., Ivarsson, S. A., Grandell, U., & Wedell, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.6.8518 · Cited by 22 · see citing works

Congenital adrenal hyperplasia

El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669 · see citing works

Genetics of congenital adrenal hyperplasia

Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312 · see citing works

The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia

Kaupert, L., Lemos‐Marini, S., De Mello, M., Moreira, R., Brito, V., Jorge, A., Longui, C., Guerra, G., Mendonca, B., & Bachega, T. (2013) · Clinical Genetics · doi:10.1111/cge.12016 · Cited by 17 · see citing works

Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype

Gurgov, S., Bernabé, K. J., Stites, J., Cunniff, C. M., Lin‐Su, K., Felsen, D., New, M. I., & Poppas, D. P. (2017) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.13370 · Cited by 17 · see citing works

Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene

Weidemann, W. M., Linck, B., Haupt, H., et al. (1996) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1996.8600869.x · Cited by 53 · see citing works

Androgen-Insensitivity Syndrome as a Possible Coactivator Disease

Adachi, M., Takayanagi, R., Tomura, A., Imasaki, K., Kato, S., Goto, K., Yanase, T., Ikuyama, S., & Nawata, H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200009213431205 · Cited by 192 · see citing works

Homologous Androgen Receptor Up-Regulation in Osteoblastic Cells May Be Associated with Enhanced Functional Androgen Responsiveness

Wiren, K. M., Keenan, E. J., Zhang, X., Ramsey, B., & ORWOLL, E. S. (1999) · Endocrinology · doi:10.1210/endo.140.7.6753 · Cited by 34 · see citing works

THE PHYSIOPATHOLOGICAL ROLES OF ANDROGENS IN MOTONEURONS

Poletti, A. (2020) · Istituto Lombardo - Accademia di Scienze e Lettere - Incontri di Studio · doi:10.4081/incontri.2019.607

Androgen receptor: role in the female lower vertebrate reproduction

Guerriero, G., Prins, G., Birch, L. A., et al. (2010) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/s-0030-1267011