Detalhe da pesquisa
1.
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.
J Allergy Clin Immunol
; 153(3): 831-843, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040041
2.
Hodgkin Lymphoma after Disseminated Mycobacterium genavense Infection, Germany.
Emerg Infect Dis
; 28(7): 1506-1509, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731199
3.
CRLF1 and CLCF1 in Development, Health and Disease.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055176
4.
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
5.
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
6.
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
BMC Med Genet
; 20(1): 16, 2019 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642272
7.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Clin Genet
; 95(5): 607-614, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859550
8.
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Am J Med Genet A
; 179(4): 634-638, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737887
9.
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
10.
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
11.
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
12.
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
13.
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
PLoS Genet
; 8(1): e1002480, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22291609
14.
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Hum Mutat
; 35(4): 424-33, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24488861
15.
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Res Sq
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712244
16.
Reproductive aging-associated common genetic variants and the risk of breast cancer.
Breast Cancer Res
; 14(2): R54, 2012 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22433456
17.
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Hum Mol Genet
; 18(14): 2711-8, 2009 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19419973
18.
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
19.
Neuroticism, depressive symptoms, and serum BDNF.
Psychosom Med
; 73(8): 638-42, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21949427
20.
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Proc Natl Acad Sci U S A
; 105(5): 1620-5, 2008 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18245381