Detalhe da pesquisa
1.
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
Nat Genet
; 28(1): 46-8, 2001 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11326274
2.
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Nat Genet
; 23(3): 296-303, 1999 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-10610178
3.
Monoclonal antibodies against native ant denatured forms of estrogen-induced breast cancer protein (BCEI/pS2) obtained by expression in Escherichia coli.
Cancer Res
; 50(8): 2390-6, 1990 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-2180569
4.
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.
J Invest Dermatol
; 117(6): 1657-61, 2001 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11886537
5.
17 beta-Hydroxysteroid dehydrogenase activity in human breast epithelial cell and fibroblast cultures.
Endocrinology
; 114(5): 1483-9, 1984 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-6232126
6.
Genetic linkage of Meleda disease to chromosome 8qter.
Eur J Hum Genet
; 6(6): 542-7, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9887370
7.
Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.
Eur J Hum Genet
; 5(3): 156-60, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9272739
8.
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.
Arch Neurol
; 56(8): 1004-9, 1999 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10448807
9.
Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.
Arch Neurol
; 56(8): 943-9, 1999 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10448799
10.
Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda.
Arch Dermatol
; 136(10): 1247-52, 2000 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11030771
11.
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures.
Epilepsy Res
; 51(1-2): 23-9, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12350381
12.
European genetic study on rheumatoid arthritis: is there a linkage of the interleukin-1 (IL-1), IL-10 or IL-4 genes to RA?
Clin Exp Rheumatol
; 19(6): 709-14, 2001.
Artigo
em Inglês
| MEDLINE | ID: mdl-11791644
13.
Modulation of proliferation, estradiol receptors and estrogen regulated protein PS2/BCEI in human breast cancer cell lines by gamma interferon.
J Biol Regul Homeost Agents
; 5(3): 98-106, 1991.
Artigo
em Inglês
| MEDLINE | ID: mdl-1763658
14.
[Regulation of specific messenger RNAs by hormones. An important development in experimental and clinical endocrinology]. / Etude de la régulation des ARN messagers spécifiques par les hormones. Un développement important en endocrinologie expérimentale et clinique.
Ann Endocrinol (Paris)
; 43(5): 351-3, 1982.
Artigo
em Francês
| MEDLINE | ID: mdl-7171238
15.
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.
Neurology
; 68(21): 1837-40, 2007 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-17515546
16.
[Steroid hormone receptors in benign breast diseases]. / Récepteurs des hormones stéroïdes dans les mastopathies bénignes.
Pathol Biol (Paris)
; 31(9): 767-73, 1983 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-6361674
17.
Immunohistochemistry of pS2 in normal human breast and in various histological forms of breast tumours.
Histopathology
; 23(3): 249-56, 1993 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-8225243
18.
Enzyme-linked immunosorbent assay of pS2 in breast cancers, benign tumors, and normal breast tissues. Correlation with prognosis and adjuvant hormone therapy.
Cancer
; 69(8): 2116-23, 1992 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-1544118
19.
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
Hum Mol Genet
; 4(8): 1391-5, 1995 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-7581379
20.
[Clinical and molecular genetic analysis of 4 Swiss families with the pure form of hereditary spastic spinal paralysis]. / Klinische und molekulargenetische Analyse bei vier schweizerischen Familien mit der reinen Form der hereditären spastischen Spinalparalyse.
Schweiz Med Wochenschr
; 128(26): 1043-50, 1998 Jun 27.
Artigo
em Alemão
| MEDLINE | ID: mdl-9700778