about
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patientsRAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesityA noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsHuman stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controlsTelethonin protein expression in neuromuscular disordersStem cell proliferation under low intensity laser irradiation: a preliminary study.Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.Collybistin and gephyrin are novel components of the eukaryotic translation initiation factor 3 complexDeletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humansGenetics and genomics in Brazil: a promising futureA rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systemsParental origin of mutations in sporadic cases of Treacher Collins syndrome.Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells.Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasiaImprovement of In Vitro Osteogenic Potential through Differentiation of Induced Pluripotent Stem Cells from Human Exfoliated Dental Tissue towards Mesenchymal-Like Stem CellsOptimization of parameters for a more efficient use of adipose-derived stem cells in regenerative medicine therapiesApert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.Human fallopian tube mesenchymal stromal cells enhance bone regeneration in a xenotransplanted model.Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.Exomic variants of an elderly cohort of Brazilians in the ABraOM database.Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectMutations in collagen 18A1 and their relevance to the human phenotype.Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.Neuromuscular disorders: genes, genetic counseling and therapeutic trialsMutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genesThe influence of population stratification on genetic markers associated with type 1 diabetes.Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders.Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil.Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome.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.A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.Genetics and management of the patient with orofacial cleft.Is bone transplantation the gold standard for repair of alveolar bone defects?Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
P50
Q21261515-B86707AA-9C7C-4A5C-8471-59B4619C9324Q24305935-58643B1B-E248-4A04-A754-ECE92A6F86EFQ24315833-EA90B61D-1B73-40AF-88AF-A2DF2C1FA8C0Q24622117-4AFBDC99-6BFF-4A4C-BEF2-579EEDB48897Q28207504-CC2BE2D0-3DEC-43D9-8D81-9043E9640805Q33354245-49B3C888-812E-4BD3-9941-F58F86BF3772Q33684451-E2579185-E42E-46BE-A2C2-465C254094B1Q33698667-53130B30-2FDD-45DE-BE39-B37A2EDC9A59Q33750290-8398CCC8-CF56-4D44-BC32-DD70C9BBBFA6Q33960779-CC874204-5B10-4A3F-9F91-A8AA98D49CC8Q34174028-9F55C9AE-B0DC-4F85-90DE-A84871C04EA3Q34225214-B1B5082D-1B0A-439F-962A-E7CC6CED5364Q34257185-8755E839-7F3E-4FE8-B63F-C8663145D9A1Q34673186-632EF412-E7E5-458E-934C-4FA1CFB931D7Q34740363-DC3FEE84-B8B5-42E3-89A7-23162E20EAEAQ34768100-B7BA12B4-D7F6-46E8-90CC-C6EE8EF6A558Q34775877-F93A1113-C228-4D24-8C9E-BA32A0733912Q34952076-1F8EC39B-BF32-4139-82F3-7F9EA9F378D2Q35087368-E9BE1C18-0257-4C8B-951E-8003678F41BEQ35894065-F942F976-25EF-4E51-B69E-300A4B3E16C7Q35951598-7C79A22B-E323-4D81-BF88-387869500F7BQ35996174-DEFC257B-2913-4967-BD90-A7EEF2D202F2Q36258805-FC006A84-63F1-473B-B762-7A79ED054AA7Q36319255-9DFA483B-193A-42DC-B97A-FED1EE5BD1EDQ36338193-C5A6403E-1F62-4106-BCB0-B97BB67AA972Q36419264-E97C9CF8-0D78-4F03-8AAE-AB7C8F822338Q36695840-26F26231-32F1-4C12-B9C2-7CCDB3F4938AQ37217303-0960B62A-A791-4553-9213-24E9658561F2Q37441868-25A17172-1571-4A57-863E-C7A62DE2DD62Q37465858-57CCBADA-BEEB-482B-BB4F-4E98953AAF7BQ37681870-0AD5315A-B053-4EBE-BF36-127EC6A6587AQ38314579-60FFF15F-63B3-47BB-A4C6-F79C8FD1FAA6Q38858802-21419D4A-61F7-4AE6-9A4A-021286D4FD91Q38921624-ACC0A5DA-F803-45F8-8F2D-ECC90A20F56AQ39658832-BEE5862F-6175-471A-8912-5B73C89F9A4DQ40361111-1DFD6559-C691-4F4C-B932-1CC09C4DF604Q40384849-25F4465B-2DD1-4D57-8494-7B122CD04398Q41659078-B0102C35-4A43-48CB-A080-F1A50C600AB9Q41850499-B6933E22-1A2F-4596-A174-63AEB57008E9Q41970321-DF0F9EF5-993F-4202-BCC2-569B34420490
P50
description
Brazilian scientist
@en
Brazilian scientist
@en-ca
Brazilian scientist
@en-gb
cientista brasileira
@pt
cientista brasileira
@pt-br
científica brasileña
@es
wetenschapster uit Brazilië
@nl
عالمة برازيلية
@ar
name
Maria Rita Passos-Bueno
@en
Maria Rita Passos-Bueno
@nl
Maria Rita Passos-Bueno
@pt
Maria Rita Passos-Bueno
@pt-br
Maria Rita Passos-Bueno
@sl
type
label
Maria Rita Passos-Bueno
@en
Maria Rita Passos-Bueno
@nl
Maria Rita Passos-Bueno
@pt
Maria Rita Passos-Bueno
@pt-br
Maria Rita Passos-Bueno
@sl
prefLabel
Maria Rita Passos-Bueno
@en
Maria Rita Passos-Bueno
@nl
Maria Rita Passos-Bueno
@pt
Maria Rita Passos-Bueno
@pt-br
Maria Rita Passos-Bueno
@sl