Detalhe da pesquisa
1.
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
Am J Med Genet A
; 185(3): 774-780, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33382187
2.
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Am J Med Genet C Semin Med Genet
; 184(4): 896-911, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33128510
3.
Growth Hormone Treatment for Short Children Born Small for Gestational Age.
Pediatr Endocrinol Rev
; 16(Suppl 1): 105-112, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30378788
4.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
J Med Genet
; 52(6): 413-21, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25795793
5.
Further evidence of the importance of RIT1 in Noonan syndrome.
Am J Med Genet A
; 164A(11): 2952-7, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25124994
6.
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.
Am J Med Genet A
; 158A(11): 2700-6, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22887833
7.
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis.
Am J Med Genet A
; 158A(5): 1178-84, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22488932
8.
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.
Am J Med Genet A
; 158A(5): 1077-82, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22488759
9.
Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.
Horm Res Paediatr
; 95(1): 51-61, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35176743
10.
Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity.
Mol Cell Endocrinol
; 519: 111040, 2021 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33011209
11.
Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
Horm Res
; 71(4): 185-93, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19258709
12.
Can the insulin sensitivity index (ISI) in association with insulin-like growth factor binding protein-1 identify insulin resistance early in overweight children?
J Pediatr Endocrinol Metab
; 22(4): 353-61, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19554810
13.
Abnormal growth in noonan syndrome: the challenge of optimal therapy.
Pediatr Endocrinol Rev
; 6 Suppl 4: 523-8, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19550387
14.
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
J Clin Endocrinol Metab
; 104(6): 2023-2030, 2019 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30602027
15.
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
Horm Res Paediatr
; 92(2): 115-123, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31715605
16.
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
Horm Res Paediatr
; 91(4): 252-261, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31132774
17.
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
Clin Endocrinol (Oxf)
; 69(3): 426-31, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18331608
18.
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Eur J Med Genet
; 61(3): 130-133, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29133208
19.
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Horm Res Paediatr
; 89(1): 13-21, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29130988
20.
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.
Eur J Endocrinol
; 171(2): 253-62, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24878679