Detalhe da pesquisa
1.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
2.
Endocrinological manifestations in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 471-477, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401574
3.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Hum Mutat
; 37(2): 175-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486927
4.
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.
Am J Med Genet A
; 167A(11): 2786-94, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26227443
5.
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).
Am J Med Genet A
; 161A(11): 2756-61, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24124081
6.
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
Front Endocrinol (Lausanne)
; 14: 1209339, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37588986
7.
Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques.
Pediatr Endocrinol Rev
; 9 Suppl 2: 701-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22946280
8.
Developmental syndromes: growth hormone deficiency and treatment.
Endocr Dev
; 14: 114-34, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19293579
9.
Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner's syndrome.
Cardiol Young
; 19(3): 264-71, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344538
10.
Novel Mutations and Unreported Clinical Features in KBG Syndrome.
Mol Syndromol
; 10(3): 130-138, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31191201
11.
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.
Gene
; 706: 162-171, 2019 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085274
12.
The Influence of GH Treatment on Glucose Homeostasis in Girls With Turner Syndrome: A 7-Year Study.
J Clin Endocrinol Metab
; 102(3): 878-883, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911611
13.
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism.
J Pediatr Neurosci
; 11(3): 267-270, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27857805
14.
The Influence of Growth Hormone Treatment on Glucose Homeostasis in GrowthHormone-Deficient Children: A Six-Year Follow-Up Study.
Horm Res Paediatr
; 86(3): 196-200, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27595543
15.
Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171].
Gene
; 735: 144393, 2020 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32037035
16.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Eur J Hum Genet
; 23(6): 753-60, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138099