Detalhe da pesquisa
1.
Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Am J Med Genet A
; 188(8): 2505-2508, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35689529
2.
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
Am J Med Genet A
; 185(4): 1256-1260, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33491856
3.
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Am J Med Genet A
; 182(2): 409-414, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31825158
4.
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.
Mol Genet Metab Rep
; 25: 100695, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33335841
5.
Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population. Impact on the newborn hearing screening.
Int J Pediatr Otorhinolaryngol
; 71(4): 639-43, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17276518
6.
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
Eur J Paediatr Neurol
; 20(6): 910-917, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27510309
7.
Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients.
J Cyst Fibros
; 14(1): 78-83, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25178872
8.
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
Int J Pediatr Otorhinolaryngol
; 74(3): 250-4, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20022641
9.
Beta 2-adrenergic polymorphisms and total serum IgE levels in children with asthma from Argentina.
Ann Allergy Asthma Immunol
; 102(4): 308-13, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19441602
10.
Influence of beta2-adrenoceptor polymorphisms on the response to chronic use of albuterol in asthmatic children.
Pediatr Pulmonol
; 43(5): 421-5, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18383333
11.
High specificity of head circumference to recognize N540K mutation in hypochondroplasia.
Ann Hum Biol
; 32(6): 782-8, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16418051