Detalhe da pesquisa
1.
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Clin Genet
; 97(1): 209-221, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497877
2.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am J Hum Genet
; 99(1): 236-45, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392078
3.
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation.
Dev Biol
; 416(1): 200-211, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27212026
4.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625027
5.
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice.
BMC Dev Biol
; 15: 27, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26134413
6.
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.
BMC Cancer
; 15: 383, 2015 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25956309
7.
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
Am J Hum Genet
; 82(6): 1270-80, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18514160
8.
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.
BMC Cancer
; 9: 245, 2009 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-19619314
9.
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.
Genomics
; 83(5): 757-64, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15081106