PubRank

Maria Rita Passos-Bueno

Author PubWeight™ 55.64‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 2007 1.72
2 TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet 2002 1.69
3 Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells. J Craniofac Surg 2008 1.28
4 Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet 2011 1.13
5 Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. Am J Med Genet A 2010 1.08
6 Clinical variability in calpainopathy: what makes the difference? Eur J Hum Genet 2002 1.06
7 Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A 2014 1.03
8 Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. Eur J Med Genet 2011 1.03
9 Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia. Plast Reconstr Surg 2013 1.02
10 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 2007 1.02
11 Parental origin of mutations in sporadic cases of Treacher Collins syndrome. Eur J Hum Genet 2003 1.02
12 Stem cell proliferation under low intensity laser irradiation: a preliminary study. Lasers Surg Med 2008 1.01
13 A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Gene 2005 0.99
14 Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta 2002 0.95
15 Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med 2007 0.95
16 Optimization of parameters for a more efficient use of adipose-derived stem cells in regenerative medicine therapies. Stem Cells Int 2012 0.94
17 Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate. Eur J Hum Genet 2004 0.94
18 Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans. PLoS One 2010 0.94
19 New source of muscle-derived stem cells with potential for alveolar bone reconstruction in cleft lip and/or palate patients. Tissue Eng Part A 2009 0.93
20 Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction. Am J Med Genet A 2004 0.93
21 Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil. Birth Defects Res A Clin Mol Teratol 2012 0.91
22 Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls. Stem Cell Rev 2011 0.91
23 A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One 2013 0.90
24 Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. BMC Med Genet 2009 0.90
25 Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies. Am J Med Genet C Semin Med Genet 2013 0.89
26 Mesenchymal stem cells derived from canine umbilical cord vein--a novel source for cell therapy studies. Stem Cells Dev 2010 0.89
27 An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am J Med Genet A 2005 0.89
28 Genetics and management of the patient with orofacial cleft. Plast Surg Int 2012 0.89
29 Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? Am J Med Genet A 2009 0.88
30 A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004 0.88
31 CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. Am J Med Genet A 2007 0.88
32 Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders. Autism Res 2013 0.86
33 Challenges in the orthodontic treatment of a patient with pycnodysostosis. Cleft Palate Craniofac J 2013 0.85
34 Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis. Dev Biol 2009 0.85
35 Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? Am J Med Genet A 2004 0.85
36 An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. Am J Med Genet A 2007 0.84
37 Polymorphisms at regions 1p22.1 (rs560426) and 8q24 (rs1530300) are risk markers for nonsyndromic cleft lip and/or palate in the Brazilian population. Am J Med Genet A 2013 0.84
38 Immunological methods for the analysis of protein expression in neuromuscular diseases. Methods Mol Biol 2003 0.83
39 Collybistin and gephyrin are novel components of the eukaryotic translation initiation factor 3 complex. BMC Res Notes 2010 0.82
40 Auriculo-condylar syndrome. Confronting a diagnostic challenge. Am J Med Genet A 2011 0.82
41 IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population. Am J Med Genet A 2012 0.82
42 Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J 2006 0.81
43 Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. Eur J Hum Genet 2007 0.81
44 Characterization of human collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes. Matrix Biol 2005 0.81
45 Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies. Am J Med Genet A 2011 0.81
46 MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. Birth Defects Res A Clin Mol Teratol 2013 0.80
47 An experimental model for the study of craniofacial deformities. Acta Cir Bras 2010 0.79
48 Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate. PLoS One 2013 0.79
49 Effects of antipsychotics with different weight gain liabilities on human in vitro models of adipose tissue differentiation and metabolism. Prog Neuropsychopharmacol Biol Psychiatry 2011 0.79
50 Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Res A Clin Mol Teratol 2006 0.78
51 A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2012 0.78
52 Alveolar osseous defect in rat for cell therapy: preliminary report. Acta Cir Bras 2010 0.77
53 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 2008 0.77
54 Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. Am J Med Genet A 2011 0.77
55 FGFR2 mutation confers a less drastic gain of function in mesenchymal stem cells than in fibroblasts. Stem Cell Rev 2012 0.77
56 The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature. Am J Med Genet A 2011 0.77
57 Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome. PLoS One 2013 0.77
58 Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. Am J Med Genet A 2013 0.76
59 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. Am J Med Genet A 2015 0.76
60 Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation. Clin Dysmorphol 2007 0.76
61 How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? Hum Mutat 2005 0.75
62 Increased In Vitro Osteopotential in SHED Associated with Higher IGF2 Expression When Compared with hASCs. Stem Cell Rev 2015 0.75
63 Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7. Am J Med Genet A 2012 0.75
64 Effects of uterine cervix constriction on Wistar rats. Acta Cir Bras 2010 0.75
65 Histological and radiological changes in cranial bone in the presence of bone wax. Acta Cir Bras 2011 0.75
66 Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1. Am J Med Genet A 2011 0.75
67 Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. Am J Med Genet A 2015 0.75
68 Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. Cleft Palate Craniofac J 2010 0.75