-
1
-
-
0034454269
-
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
-
White P.C., and Speiser P.W. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Endoc Rev 21 (2000) 245-291
-
(2000)
Endoc Rev
, vol.21
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
2
-
-
0042466547
-
-
Speiser PW, White PC. Congenital adrenal hyperplasia. N Eng J Med 349:776-88.
-
-
-
-
3
-
-
20444462824
-
Congenital adrenal hyperplasia
-
Merke D.P., and Bornstein S.R. Congenital adrenal hyperplasia. Lancet 365 (2005) 2125-2136
-
(2005)
Lancet
, vol.365
, pp. 2125-2136
-
-
Merke, D.P.1
Bornstein, S.R.2
-
4
-
-
33745210399
-
Nonclassic 21-hydroxylase deficiency
-
New M.I. Nonclassic 21-hydroxylase deficiency. Fertil Steril 86 Suppl 1 (2006) S2
-
(2006)
Fertil Steril
, vol.86
, Issue.SUPPL. 1
-
-
New, M.I.1
-
5
-
-
0033738858
-
A multicenter study of women with nonclassic congenital adrenal hyperplasia: relationship between genotype and phenotype
-
Speiser P.W., Knochenhauer E.S., Dewailly D., Frizzetti F., Marcondes J.A., and Azziz R. A multicenter study of women with nonclassic congenital adrenal hyperplasia: relationship between genotype and phenotype. Mol Genet Metab 71 (2000) 527-534
-
(2000)
Mol Genet Metab
, vol.71
, pp. 527-534
-
-
Speiser, P.W.1
Knochenhauer, E.S.2
Dewailly, D.3
Frizzetti, F.4
Marcondes, J.A.5
Azziz, R.6
-
6
-
-
0034129253
-
2000. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Bachega T.A.S.S., Billerbeck A.E.C., Marcondes J.A.M., Madureira G., Arnhold I.J.P., and Mendonca B.B. 2000. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol 52 (2000) 601-607
-
(2000)
Clin Endocrinol
, vol.52
, pp. 601-607
-
-
Bachega, T.A.S.S.1
Billerbeck, A.E.C.2
Marcondes, J.A.M.3
Madureira, G.4
Arnhold, I.J.P.5
Mendonca, B.B.6
-
7
-
-
0034970428
-
The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia
-
Dracopoulou-Vabouli M., Maniati-Christidi M., and Dacou-Voutetakis C. The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab 86 (2001) 2845-2848
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2845-2848
-
-
Dracopoulou-Vabouli, M.1
Maniati-Christidi, M.2
Dacou-Voutetakis, C.3
-
8
-
-
0036341785
-
Nonclassical 21-hydroxylase deficiency in children: association of ACTH-stimulated 17OH progesterone with risk for compound heterozygosity for severe mutations
-
Ezquieta B., Cueva E., Varela J., Oliver A., Fernández J., and Jariego C. Nonclassical 21-hydroxylase deficiency in children: association of ACTH-stimulated 17OH progesterone with risk for compound heterozygosity for severe mutations. Acta Paediatr 91 (2002) 892-898
-
(2002)
Acta Paediatr
, vol.91
, pp. 892-898
-
-
Ezquieta, B.1
Cueva, E.2
Varela, J.3
Oliver, A.4
Fernández, J.5
Jariego, C.6
-
9
-
-
11844272074
-
Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia
-
Yang R.M., Fefferman R.A., and Shapiro C.E. Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia. Fertil Steril 83 (2005) 223-225
-
(2005)
Fertil Steril
, vol.83
, pp. 223-225
-
-
Yang, R.M.1
Fefferman, R.A.2
Shapiro, C.E.3
-
10
-
-
0035746363
-
Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee. ACMG American College of Medical Genetics: laboratory standards guidelines for population-based cystic fibrosis carrier screening
-
Grody W.W., Cutting G.R., Klinger K.W., Richards C.S., Watson M.S., and Desnick R.J. Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee. ACMG American College of Medical Genetics: laboratory standards guidelines for population-based cystic fibrosis carrier screening. Genet Med 3 (2001) 149-154
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
Richards, C.S.4
Watson, M.S.5
Desnick, R.J.6
-
11
-
-
0033763392
-
Cystic fibrosis in infertility: screening before assisted reproduction
-
Lewis-Jones D.I., Gazvani M.R., and Mountford R. Cystic fibrosis in infertility: screening before assisted reproduction. Hum Reprod 15 (2000) 2415-2417
-
(2000)
Hum Reprod
, vol.15
, pp. 2415-2417
-
-
Lewis-Jones, D.I.1
Gazvani, M.R.2
Mountford, R.3
-
12
-
-
5144227715
-
The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization
-
Wong L.J., Alpèr O.M., Hsu E., Woo M.S., and Margetis M.F. The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization. Fertil Steril 82 (2004) 47-49
-
(2004)
Fertil Steril
, vol.82
, pp. 47-49
-
-
Wong, L.J.1
Alpèr, O.M.2
Hsu, E.3
Woo, M.S.4
Margetis, M.F.5
-
13
-
-
0036732232
-
Inclusion of heterozygotes for cystic fibrosis in the egg donor pool
-
Zenke U., and Chetkowski R.J. Inclusion of heterozygotes for cystic fibrosis in the egg donor pool. Fertil Steril 78 (2002) 557-561
-
(2002)
Fertil Steril
, vol.78
, pp. 557-561
-
-
Zenke, U.1
Chetkowski, R.J.2
-
14
-
-
0029075631
-
Analysis of steroid 21-Hydroxylase mutations in the Spanish population
-
Ezquieta B., Oliver A., Gracia R., and Gancedo P.G. Analysis of steroid 21-Hydroxylase mutations in the Spanish population. Hum Genet 96 (1995) 198-204
-
(1995)
Hum Genet
, vol.96
, pp. 198-204
-
-
Ezquieta, B.1
Oliver, A.2
Gracia, R.3
Gancedo, P.G.4
-
15
-
-
33845393018
-
Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis
-
Ezquieta B., Beneyto M., Muñoz-Pacheco R., Barrio R., Oyarzabal M., Lechuga J.L., et al. Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis. Prenat Diagn 26 (2006) 1172-1178
-
(2006)
Prenat Diagn
, vol.26
, pp. 1172-1178
-
-
Ezquieta, B.1
Beneyto, M.2
Muñoz-Pacheco, R.3
Barrio, R.4
Oyarzabal, M.5
Lechuga, J.L.6
-
16
-
-
0029958450
-
Nonisotopic detection of point mutations in CYP21B gene in steroid 21-hydroxylase deficiency
-
Ezquieta B., Varela J.M., Jariego C., Oliver A., and Gracia R. Nonisotopic detection of point mutations in CYP21B gene in steroid 21-hydroxylase deficiency. Clin Chem 42 (1996) 1108-1110
-
(1996)
Clin Chem
, vol.42
, pp. 1108-1110
-
-
Ezquieta, B.1
Varela, J.M.2
Jariego, C.3
Oliver, A.4
Gracia, R.5
-
17
-
-
0345411365
-
A novel frameshift in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family
-
Ezquieta B., Oyarzábal M., Jariego C.M., Varela J.M., and Chueca M. A novel frameshift in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family. Horm Res 51 (1999) 135-141
-
(1999)
Horm Res
, vol.51
, pp. 135-141
-
-
Ezquieta, B.1
Oyarzábal, M.2
Jariego, C.M.3
Varela, J.M.4
Chueca, M.5
-
18
-
-
0036705782
-
Gene conversion (655 splicing mutation) and the founder effect (Q318X) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia in the Spanish population
-
Ezquieta B., Cueva E., Oyarzabal M., Oliver A., Varela J., and Jariego C. Gene conversion (655 splicing mutation) and the founder effect (Q318X) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia in the Spanish population. Clin Genet 62 (2002) 181-188
-
(2002)
Clin Genet
, vol.62
, pp. 181-188
-
-
Ezquieta, B.1
Cueva, E.2
Oyarzabal, M.3
Oliver, A.4
Varela, J.5
Jariego, C.6
-
19
-
-
0030995001
-
Microsatellite typing in the indirect analysis of steroid 21-hydroxylase gene
-
Ezquieta B., Jariego C.M., Varela J.M., Oliver A., and Gracia R. Microsatellite typing in the indirect analysis of steroid 21-hydroxylase gene. Prenat Diagn 17 (1997) 429-434
-
(1997)
Prenat Diagn
, vol.17
, pp. 429-434
-
-
Ezquieta, B.1
Jariego, C.M.2
Varela, J.M.3
Oliver, A.4
Gracia, R.5
-
20
-
-
33744977423
-
Cystic fibrosis screening in assisted reproduction
-
Gazvani R., and Lewis-Jones I. Cystic fibrosis screening in assisted reproduction. Curr Opin Obstet Gynecol 18 (2006) 268-272
-
(2006)
Curr Opin Obstet Gynecol
, vol.18
, pp. 268-272
-
-
Gazvani, R.1
Lewis-Jones, I.2
-
21
-
-
14044254920
-
Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population
-
Baumgartner-Parzer S.M., Nowotny P., Heinze G., Waldhausl W., and Vierhapper H. Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population. J Clin Endocrinol Metab 90 (2005) 775-778
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 775-778
-
-
Baumgartner-Parzer, S.M.1
Nowotny, P.2
Heinze, G.3
Waldhausl, W.4
Vierhapper, H.5
-
22
-
-
0033030894
-
Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia
-
Fitness J., Dixit N., Webster D., Torresani T., Pergolizzi R., Speiser P.W., et al. Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 84 (1999) 960-966
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 960-966
-
-
Fitness, J.1
Dixit, N.2
Webster, D.3
Torresani, T.4
Pergolizzi, R.5
Speiser, P.W.6
-
23
-
-
0036726640
-
Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
-
Joint LWPES/ESPE CAH Working Group
-
Joint LWPES/ESPE CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab 87 (2002) 4048-4053
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4048-4053
-
-
-
24
-
-
0036821001
-
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes
-
Koppens P.F., Hoogenboezem T., and Degenhart H.J. Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes. Hum Genet 111 (2002) 405-410
-
(2002)
Hum Genet
, vol.111
, pp. 405-410
-
-
Koppens, P.F.1
Hoogenboezem, T.2
Degenhart, H.J.3
-
25
-
-
28144442193
-
Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening
-
Ezquieta B., Ruano M.L., Dulín E., Arnao D.R., and Rodríguez A. Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening. Med Clin (Barc) 125 (2005) 493-495
-
(2005)
Med Clin (Barc)
, vol.125
, pp. 493-495
-
-
Ezquieta, B.1
Ruano, M.L.2
Dulín, E.3
Arnao, D.R.4
Rodríguez, A.5
-
26
-
-
23844437553
-
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations
-
Schrijver I., Oitmaa E., Metspalu A., and Gardner P. Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. J Mol Diagn 3 (2005) 375-387
-
(2005)
J Mol Diagn
, vol.3
, pp. 375-387
-
-
Schrijver, I.1
Oitmaa, E.2
Metspalu, A.3
Gardner, P.4
|