Detalhe da pesquisa
1.
Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.
Sao Paulo Med J
; 141(4): e2022281, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36449967
2.
XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin.
J Clin Endocrinol Metab
; 93(2): 339-43, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18056774
3.
Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study
São Paulo med. j
; 141(4): e2022281, 2023. tab
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1432444
4.
Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior.
Arq Neuropsiquiatr
; 65(2A): 202-5, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17607414
5.
[Prevention of mental retardation: knowledge and perception by health professionals]. / Prevenção da deficiência mental: conhecimento e percepção dos profissionais de saúde.
Cad Saude Publica
; 22(3): 685-90, 2006 Mar.
Artigo
em Português
| MEDLINE | ID: mdl-16583112
6.
New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome.
J Pediatr Endocrinol Metab
; 29(4): 475-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26812779
7.
Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant.
J Pediatr Endocrinol Metab
; 29(2): 233-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26353166
8.
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.
Int J Endocrinol
; 2016: 4963574, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28018429
9.
Ophthalmic aspects of GAPO syndrome: case report and review.
Ophthalmic Genet
; 26(3): 143-7, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16272061
10.
Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders.
Arq Neuropsiquiatr
; 63(3A): 564-70, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16172701
11.
Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).
Am J Med Genet
; 113(4): 381-4, 2002 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12457412
12.
Brief report: acrocallosal syndrome and autism.
J Autism Dev Disord
; 34(6): 723-6, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15679191
13.
Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.
Arq Neuropsiquiatr
; 61(2A): 176-80, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12806492
14.
Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males.
Int J Endocrinol
; 2014: 480724, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25580123
15.
Erratum to: Genetic services and testing in Brazil.
J Community Genet
; 4(3): 377-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22777608
16.
Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.
Int J Endocrinol
; 2012: 964876, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22194745
17.
Clinical and molecular spectrum of patients with 17ß-hydroxysteroid dehydrogenase type 3 (17-ß-HSD3) deficiency.
Arq Bras Endocrinol Metabol
; 56(8): 533-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23295294
18.
Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.
Fertil Steril
; 96(6): 1431-4, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21982289
19.
Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.
Genet Test Mol Biomarkers
; 15(12): 849-53, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21728791
20.
Turner syndrome: a pediatric diagnosis frequently made by non-pediatricians.
J Pediatr (Rio J)
; 86(2): 121-5, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20361125