Detalhe da pesquisa
1.
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.
Genet Med
; 18(2): 145-51, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26087173
2.
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
Clin Chem Lab Med
; 53(11): 1719-23, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25781545
3.
Evidence for an association between migraine and the hypocretin receptor 1 gene.
J Headache Pain
; 12(2): 193-9, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21344296
4.
Association between carrier screening and incidence of cystic fibrosis.
JAMA
; 302(23): 2573-9, 2009 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20009057
5.
Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay.
Fertil Steril
; 95(3): 1121.e1-4, 2011 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21067729
6.
Association between major mood disorders and the hypocretin receptor 1 gene.
J Affect Disord
; 130(3): 487-91, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21071097
7.
A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
J Cyst Fibros
; 9(1): 29-35, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19897426
8.
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
Eur J Hum Genet
; 17(9): 1160-4, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19259130
9.
Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.
Am J Med Genet A
; 135(2): 142-4, 2005 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15832355
10.
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Mol Hum Reprod
; 11(8): 607-14, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16126774
11.
TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis.
Am J Med Genet A
; 143A(16): 1936-7, 2007 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17632788