Detalhe da pesquisa
1.
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
Hum Reprod
; 30(3): 499-506, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25605705
2.
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
Nat Genet
; 16(1): 54-63, 1997 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-9140395
3.
CRK protein binds to two guanine nucleotide-releasing proteins for the Ras family and modulates nerve growth factor-induced activation of Ras in PC12 cells.
Mol Cell Biol
; 14(8): 5495-500, 1994 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-8035825
4.
Nerve growth factor induces rapid accumulation of the GTP-bound form of p21ras in rat pheochromocytoma PC12 cells.
Oncogene
; 7(2): 277-81, 1992 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-1549349
5.
Different interactions of Grb2/Ash molecule with the NGF and EGF receptors in rat pheochromocytoma PC12 cells.
Oncogene
; 9(3): 869-75, 1994 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-8108130
6.
The SH2 domain of Shc suppresses EGF-induced mitogenesis in a dominant negative manner.
Oncogene
; 11(12): 2525-33, 1995 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-8545109
7.
Specific inhibition of NGF receptor tyrosine kinase activity by K-252a.
Biochim Biophys Acta
; 1135(3): 353-6, 1992 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-1320413
8.
Characterization of exo-(1,4)-alpha glucan lyase from red alga Gracilaria chorda. Activation, inactivation and the kinetic properties of the enzyme.
Biochim Biophys Acta
; 1472(3): 447-54, 1999 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-10564758
9.
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
J Med Genet
; 38(6): 374-80, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11389161
10.
Micropenis and the AR Gene: mutation and CAG repeat-length analysis.
J Clin Endocrinol Metab
; 86(11): 5372-8, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11701709
11.
Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases.
J Clin Endocrinol Metab
; 85(9): 3094-100, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10999792
12.
Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.
J Clin Endocrinol Metab
; 84(12): 4613-21, 1999 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-10599728
13.
Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.
J Clin Endocrinol Metab
; 86(11): 5498-508, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11701728
14.
The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females.
Cytogenet Genome Res
; 99(1-4): 276-84, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12900575
15.
47,XXX male: A clinical and molecular study.
Am J Med Genet
; 98(4): 353-6, 2001 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11170081
16.
Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns.
Am J Med Genet
; 91(4): 267-72, 2000 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-10766981
17.
Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.
Am J Med Genet
; 86(1): 44-50, 1999 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-10440827
18.
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.
Am J Med Genet
; 64(4): 583-7, 1996 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-8870926
19.
Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.
Am J Med Genet
; 92(4): 256-9, 2000 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-10842291
20.
Female gonadal development in XX patients with distal 9p monosomy.
Eur J Endocrinol
; 145(5): 613-7, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11720880