Detalles de la búsqueda
1.
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.
Clin Endocrinol (Oxf)
; 68(2): 226-32, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17803691
2.
Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
J Clin Endocrinol Metab
; 92(10): 4028-34, 2007 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17666484
3.
Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
Eur J Endocrinol
; 175(2): 107-16, 2016 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-27185867
4.
Deletion mapping of chromosome 17 in benign and malignant adrenocortical tumors associated with the Arg337His mutation of the p53 tumor suppressor protein.
J Clin Endocrinol Metab
; 90(5): 2976-81, 2005 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15741269
5.
[Standardization of DNA extraction with NaCl from oral mucosa cells: application in PROP1 gene study]. / Padronização da técnica de extração de DNA de células de mucosa oral com NaCl: aplicação no estudo do gene PROP1.
Arq Bras Endocrinol Metabol
; 49(6): 978-82, 2005 Dec.
Artículo
en Portugués
| MEDLINE | ID: mdl-16544023
6.
[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases]. / Síndrome de insensibilidade aos andrógenos: análise clínica, hormonal e molecular de 33 casos.
Arq Bras Endocrinol Metabol
; 49(1): 87-97, 2005 Feb.
Artículo
en Portugués
| MEDLINE | ID: mdl-16544039
7.
Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.
J Clin Endocrinol Metab
; 88(7): 3027-34, 2003 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-12843139
8.
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.
J Clin Endocrinol Metab
; 89(4): 1767-72, 2004 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15070943
9.
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
J Clin Endocrinol Metab
; 87(9): 4314-7, 2002 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-12213891
10.
Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.
J Clin Endocrinol Metab
; 88(7): 3241-50, 2003 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-12843171
11.
Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method.
Am J Med Genet
; 107(4): 299-305, 2002 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-11840486
12.
Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors.
Arq Bras Endocrinol Metabol
; 48(5): 647-50, 2004 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-15761534
13.
[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation]. / Estudo multicêntrico de pacientes brasileiros com deficiência da 21-hidroxilase: correlação do genótipo com o fenótipo.
Arq Bras Endocrinol Metabol
; 48(5): 697-704, 2004 Oct.
Artículo
en Portugués
| MEDLINE | ID: mdl-15761541
14.
Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age.
Clinics (Sao Paulo)
; 68(6): 785-91, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23778474
15.
Could the leukocyte x chromosome inactivation pattern be extrapolated to hair bulbs?
Horm Res Paediatr
; 73(4): 238-43, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20215769
16.
Distribution of HLA-DQA1, LDLR, GYPA, HBGG, D7S8 and Gc alleles in a Black population sample from São Paulo, Brazil.
J Forensic Sci
; 49(6): 1374-5, 2004 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-15568722
17.
Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age
Clinics
; 68(6): 785-791, jun. 2013. tab
Artículo
en Inglés
| LILACS | ID: lil-676928
18.
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
Clin Endocrinol (Oxf)
; 62(2): 132-6, 2005 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-15670187
19.
Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.
Rev Hosp Clin Fac Med Sao Paulo
; 59(6): 369-74, 2004 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-15654491
20.
Brazilian population data on the polymerase chain reaction-based loci LDLR, GYPA, HBGG, D7S8, and Gc.
Am J Forensic Med Pathol
; 24(3): 283-7, 2003 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-12960666