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A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

artículo científico publicado en 2011

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

artículo científico publicado en 2012

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

artículo científico publicado en 1998

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction

artículo científico publicado en 2005

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

artículo científico publicado en 1998

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

artículo científico publicado en 2004

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

artículo científico publicado en 2014

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia

artículo científico publicado en 2013

A review of craniofacial disorders caused by spliceosomal defects

artículo científico

A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems

artículo científico publicado en 2011

Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders

artículo científico publicado en 2015

Alveolar osseous defect in rat for cell therapy: preliminary report

artículo científico publicado en 2010

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

artículo científico publicado en 2007

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

artículo científico publicado en 2005

An experimental model for the study of craniofacial deformities

article

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

scientific article published on 01 March 1995

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

artículo científico publicado en 2016

Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells

artículo científico publicado en 2007

Array comparative genomic hybridization in confirmation of the deleted genes in a patient with subterminal deletion of the long arm of chromosome 10 associated with sagittal craniosynostosis and dysmorphic features

article

Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.

artículo científico publicado en 1994

Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry.

artículo científico publicado en 2008

Association of schizophrenia and Duchenne muscular dystrophy

artículo científico publicado en 1993

Auriculo-condylar syndrome. Confronting a diagnostic challenge

artículo científico publicado en 2011

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

artículo científico publicado en 2007

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree

artículo científico publicado en 2002

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

artículo científico publicado en 1996

Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis

article

CD105 is regulated by hsa-miR-1287 and its expression is inversely correlated with osteopotential in SHED.

artículo científico publicado en 2017

CNS malformations in Knobloch syndrome with splice mutation inCOL18A1 gene

article

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

artículo científico publicado en 2008

Caveolin-3 in muscular dystrophy

artículo científico publicado en 1998

Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome

artículo científico publicado en 2016

Challenges in the orthodontic treatment of a patient with pycnodysostosis

artículo científico publicado en 2013

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

artículo científico publicado en 2005

Clinical variability in calpainopathy: what makes the difference?

artículo científico publicado en 2002

Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes

artículo científico publicado en 2016

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

artículo científico publicado en 2000

Collybistin and gephyrin are novel components of the eukaryotic translation initiation factor 3 complex ⬇️

artículo científico publicado el 21 de septiembre de 2010

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

artículo científico publicado en 2015

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

artículo científico publicado en 2018

Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region

article

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus

artículo científico publicado en 2011

Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2

article

Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

artículo científico publicado en 2015

Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities

article

Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter

artículo científico publicado en 2005

Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans

artículo científico publicado en 2010

Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families

article

Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

artículo científico publicado en 2018

Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

artículo científico publicado en 2004

Dysferlin Protein Analysis in Limb-Girdle Muscular Dystrophies

artículo científico publicado en 2001

Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study

scientific article published on 01 September 1990

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

artículo científico publicado en 2017

Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients.

artículo científico publicado en 2006

Effects of antipsychotics with different weight gain liabilities on human in vitro models of adipose tissue differentiation and metabolism

artículo científico publicado en 2011

Effects of uterine cervix constriction on Wistar rats ⬇️

artículo científico publicado el 1 de diciembre de 2010

Erratum to: FGFR2 Mutation Confers a Less Drastic Gain of Function in Mesenchymal Stem Cells than in Fibroblasts.

artículo científico publicado en 2013

Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophy

artículo científico publicado en 1989

Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families

article

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

artículo científico publicado en 2017

FGFR2 mutation confers a less drastic gain of function in mesenchymal stem cells than in fibroblasts

artículo científico publicado en 2012

Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia

artículo científico publicado en 2013

Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction.

artículo científico publicado en 2004

Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis

artículo científico publicado en 2009

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion

article

Further evidence of the importance of RIT1 in Noonan syndrome.

artículo científico publicado en 2014

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

article

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

artículo científico publicado en 1993

Genetics and genomics in Brazil: a promising future

artículo científico publicado en 2014

Genetics and management of the patient with orofacial cleft

artículo científico publicado en 2012

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations

artículo científico publicado en 2008

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

scientific journal article

HTR1B and HTR2C in autism spectrum disorders in Brazilian families

artículo científico publicado en 2008

Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy.

artículo científico publicado en 1994

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

artículo científico publicado en 2011

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

article

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

artículo científico publicado en 2000

Histological and radiological changes in cranial bone in the presence of bone wax.

artículo científico publicado en 2011

How pathogenic is the p.D104N/endostatin polymorphic allele ofCOL18A1in Knobloch syndrome?

Human fallopian tube mesenchymal stromal cells enhance bone regeneration in a xenotransplanted model

artículo científico publicado en 2012

Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls

artículo científico publicado en 2011

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

artículo científico publicado en 2007

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

article

Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein

artículo científico publicado en 1991

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants

artículo científico publicado en 2016

Improvement of In Vitro Osteogenic Potential through Differentiation of Induced Pluripotent Stem Cells from Human Exfoliated Dental Tissue towards Mesenchymal-Like Stem Cells

artículo científico publicado en 2015

Increased In Vitro Osteopotential in SHED Associated with Higher IGF2 Expression When Compared with hASCs

artículo científico publicado en 2015

Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

artículo científico publicado en 2017

Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype

artículo científico publicado en 1993

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

artículo científico publicado en 2015

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy

artículo científico publicado en 2014

Is bone transplantation the gold standard for repair of alveolar bone defects?

artículo científico publicado en 2014

Is dystrophin always altered in Becker muscular dystrophy patients?

artículo científico publicado en 1995

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

scientific article published on 01 January 1993

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

artículo científico publicado en 2018

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

artículo científico publicado en 2000

Limb-girdle syndrome: a genetic study of 22 large Brazilian families comparison with X-linked Duchenne and Becker dystrophies ⬇️

artículo científico publicado el 1 de mayo de 1991

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

artículo científico publicado en 1996

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

artículo científico publicado en 2017

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

artículo científico publicado en 1996

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

artículo científico publicado en 2004

Mesenchymal Stem Cells Derived From Canine Umbilical Cord Vein—A Novel Source for Cell Therapy Studies

scholarly article by Eder Zucconi et al published March 2010 in Stem Cells and Development

Midterm clinical and echocardiographic results with patch glue repair of left ventricular free wall rupture.

artículo científico publicado en 2003

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

artículo científico publicado en 1996

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

artículo científico publicado en 2014

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

artículo científico publicado en 2007

Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

article

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

artículo científico publicado en 2014

Mutations in collagen 18A1 and their relevance to the human phenotype

artículo científico publicado en 2006

Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

artículo científico publicado en 1995

Neuromuscular disorders: genes, genetic counseling and therapeutic trials

scientific article published on July 2016

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

artículo científico publicado en 2008

New source of muscle-derived stem cells with potential for alveolar bone reconstruction in cleft lip and/or palate patients.

artículo científico publicado en 2009

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers

article

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome

artículo científico publicado en 2013

Novel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?

artículo científico publicado en 2009

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

artículo científico publicado en 2014

Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1

article

Optimization of parameters for a more efficient use of adipose-derived stem cells in regenerative medicine therapies

artículo científico publicado en 2012

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

artículo científico publicado en 2003

Polymorphisms at regions 1p22.1 (rs560426) and 8q24 (rs1530300) are risk markers for nonsyndromic cleft lip and/or palate in the Brazilian population

artículo científico publicado en 2013

Posttranscriptional Interaction Between miR-450a-5p and miR-28-5p and STAT1 mRNA Triggers Osteoblastic Differentiation of Human Mesenchymal Stem Cells

artículo científico publicado en 2017

Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

artículo científico publicado en 2018

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

artículo científico publicado en 2007

Racial effect on serum creatine-kinase: implications for estimation of heterozygosity risks for females at-risk for Duchenne dystrophy

artículo científico publicado en 1989

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate

artículo científico publicado en 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

artículo científico publicado en 2015

Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells

artículo científico publicado en 2008

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation inFLNAand an atypical paternal phenotype: Insights into genotype-phenotype correlation

artículo científico publicado en 2015

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

artículo científico publicado en 2009

Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil

artículo científico publicado en 2012

Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum

artículo científico publicado en 2017

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

artículo científico publicado en 2010

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation inSETBP1and literature review of the clinical features

article

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

artículo científico publicado en 2002

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

artículo científico publicado en 1991

Stem cell proliferation under low intensity laser irradiation: a preliminary study

artículo científico publicado en 2008

Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders

artículo científico

Steroids in Duchenne muscular dystrophy

artículo científico publicado en 1992

Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate

artículo científico publicado en 2013

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

article by Alessandra Splendore et al published 29 July 2002 in American Journal of Medical Genetics Part A

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

artículo científico publicado en 2017

Telethonin protein expression in neuromuscular disorders

artículo científico publicado en 2002

The influence of population stratification on genetic markers associated with type 1 diabetes

artículo científico publicado en 2017

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

artículo científico publicado en 2017

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

artículo científico publicado en 1996

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

artículo científico publicado en 1997

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study

artículo científico publicado en 2004

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

artículo científico publicado en 2013

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.

artículo científico publicado en 2011

Vertical transmission of a frontonasal phenotype caused by a novelALX4mutation

article

Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth

artículo científico publicado en 2018

[Myotonic dystrophy: study of clinico-genetic correlation in a pair of relatives (father-son)]

scientific article published on 01 December 1994

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