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1.
Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.
PLoS Genet
; 13(1): e1006516, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-28076348
2.
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.
Am J Med Genet A
; 176(12): 2924-2929, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30302932
3.
Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome.
J Neurosci
; 36(1): 142-52, 2016 Jan 06.
Article
in English
| MEDLINE | ID: mdl-26740656
4.
If genetic variation could talk: What genomic data may teach us about the importance of gene expression regulation in the genetics of autism.
Mol Cell Probes
; 30(6): 346-356, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27751841
5.
Functional vascular endothelial growth factor -634G>C SNP is associated with proliferative diabetic retinopathy: a case-control study in a Brazilian population of European ancestry.
Diabetes Care
; 30(2): 275-9, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-17259494
6.
Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome.
Stem Cells Dev
; 25(16): 1249-60, 2016 08 15.
Article
in English
| MEDLINE | ID: mdl-27339175
7.
Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.
PLoS One
; 8(4): e60439, 2013.
Article
in English
| MEDLINE | ID: mdl-23593218
8.
Wnt/ß-catenin signaling and Msx1 promote outgrowth of the maxillary prominences.
Front Physiol
; 3: 375, 2012.
Article
in English
| MEDLINE | ID: mdl-23055979
9.
FGFR2 mutation confers a less drastic gain of function in mesenchymal stem cells than in fibroblasts.
Stem Cell Rev Rep
; 8(3): 685-95, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22048896
10.
Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.
PLoS One
; 5(11): e13919, 2010 Nov 10.
Article
in English
| MEDLINE | ID: mdl-21085708
11.
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Front Oral Biol
; 12: 107-143, 2008.
Article
in English
| MEDLINE | ID: mdl-18391498
12.
COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients.
An Acad Bras Cienc
; 80(1): 167-77, 2008 Mar.
Article
in English
| MEDLINE | ID: mdl-18345385
13.
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.
Mol Med
; 13(7-8): 422-42, 2007.
Article
in English
| MEDLINE | ID: mdl-17622301
14.
COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients
An. acad. bras. ciênc
; 80(1): 167-177, Mar. 2008. ilus, graf, tab
Article
in English
| LILACS | ID: lil-477424
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