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Lead contamination in human milk affects infants' language trajectory: results from a prospective cohort study.
- Published in:
- Frontiers in Public Health, 2024, p. 1, doi. 10.3389/fpubh.2024.1450570
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- Article
Genetic variation in NOTCH1 is associated with overweight and obesity in Brazilian elderly.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65771-1
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- Article
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 3, p. 1181, doi. 10.1007/s10803-022-05853-z
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- Article
Optimal population‐specific HLA imputation with dimension reduction.
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- HLA: Immune Response Genetics, 2024, v. 103, n. 1, p. 1, doi. 10.1111/tan.15282
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- Article
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2508, doi. 10.1002/ajmg.a.63320
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- Article
Updated consensus guidelines on the management of Phelan–McDermid syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2015, doi. 10.1002/ajmg.a.63312
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- Article
Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene–environment interaction.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38526-1
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- Article
Correction: The oldest unvaccinated Covid-19 survivors in South America.
- Published in:
- 2022
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- Correction Notice
The oldest unvaccinated Covid-19 survivors in South America.
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- Immunity & Ageing, 2022, v. 19, n. 1, p. 1, doi. 10.1186/s12979-022-00310-y
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- Article
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.
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- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-01997-9
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- Article
FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1334, doi. 10.1002/ajmg.a.62624
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- Article
Interleukin-17a Induces Neuronal Differentiation of Induced-Pluripotent Stem Cell-Derived Neural Progenitors From Autistic and Control Subjects.
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- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.828646
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- Article
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.
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- Frontiers in Cellular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fncel.2021.803302
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- Article
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
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- Clinical Genetics, 2022, v. 101, n. 1, p. 134, doi. 10.1111/cge.14072
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- Article
HLA-G genetic diversity and evolutive aspects in worldwide populations.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-02106-4
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- Article
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
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- Clinical Genetics, 2021, v. 100, n. 5, p. 615, doi. 10.1111/cge.14041
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- Article
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 357, doi. 10.1002/ajmg.c.31931
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- Article
Complement C4 Is Reduced in iPSC-Derived Astrocytes of Autism Spectrum Disorder Subjects.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7579, doi. 10.3390/ijms22147579
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- Article
TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil.
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- PeerJ, 2021, p. 1, doi. 10.7717/peerj.11349
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- Article
Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.
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- Breast Cancer (13406868), 2021, v. 28, n. 2, p. 346, doi. 10.1007/s12282-020-01165-1
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- Article
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 896, doi. 10.1002/ajmg.c.31851
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- Article
Human levator veli palatini muscle: a novel source of mesenchymal stromal cells for use in the rehabilitation of patients with congenital craniofacial malformations.
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- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13287-020-02017-7
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- Article
Structural variation of the malaria-associated human glycophorin A-B-E region.
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- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-06849-8
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- Article
Meta‐Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.
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- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 2, p. 199, doi. 10.1002/aur.2238
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- Article
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
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- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9273-1
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- Article
Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder.
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- Human Mutation, 2018, v. 39, n. 10, p. 1372, doi. 10.1002/humu.23584
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- Article
Actin cytoskeleton dynamics in stem cells from autistic individuals.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29309-6
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- Article
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00149
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- Article
Posttranscriptional Interaction Between miR-450a-5p and miR-28-5p and STAT1 mRNA Triggers Osteoblastic Differentiation of Human Mesenchymal Stem Cells.
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- Journal of Cellular Biochemistry, 2017, v. 118, n. 11, p. 4045, doi. 10.1002/jcb.26060
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- Article
Exomic variants of an elderly cohort of Brazilians in the ABraOM database.
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- Human Mutation, 2017, v. 38, n. 7, p. 751, doi. 10.1002/humu.23220
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- Article
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
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- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2177, doi. 10.1093/hmg/ddx078
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- Article
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 938, doi. 10.1002/ajmg.a.38101
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- Article
The influence of population stratification on genetic markers associated with type 1 diabetes.
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- Scientific Reports, 2017, p. 43513, doi. 10.1038/srep43513
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- Article
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 824, doi. 10.1002/ajmg.a.38070
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- Article
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
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- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170386
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- Article
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1532, doi. 10.1002/ajmg.a.37640
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- Article
Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 403, doi. 10.1002/ajmg.a.37448
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- Article
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.
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- Human Mutation, 2015, v. 36, n. 11, p. 1029, doi. 10.1002/humu.22827
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- Article
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1039, doi. 10.1002/ajmg.a.36789
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- Publication type:
- Article
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1161, doi. 10.1002/ajmg.a.36981
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- Publication type:
- Article
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
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- Article
Stem Cells as a Good Tool to Investigate Dysregulated Biological Systems in Autism Spectrum Disorders.
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- Autism Research: Official Journal of the International Society for Autism Research, 2015, v. 8, n. 1, p. 121, doi. 10.1002/aur.1330
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- Article
Improvement of In Vitro Osteogenic Potential through Differentiation of Induced Pluripotent Stem Cells from Human Exfoliated Dental Tissue towards Mesenchymal-Like Stem Cells.
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- Stem Cells International, 2015, v. 2015, p. 1, doi. 10.1155/2015/249098
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- Article
Further evidence of the importance of RIT1 in Noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2952, doi. 10.1002/ajmg.a.36722
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- Article
Challenges in the Orthodontic Treatment of a Patient With Pycnodysostosis.
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- Cleft Palate Craniofacial Journal, 2014, v. 51, n. 6, p. 735, doi. 10.1597/12-233
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- Article
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.
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- 2014
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- Publication type:
- Abstract
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107705
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- Article
Genetics and genomics in Brazil: a promising future.
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- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 4, p. 280, doi. 10.1002/mgg3.95
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- Article
Is bone transplantation the gold standard for repair of alveolar bone defects?
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- Journal of Tissue Engineering, 2014, v. 5, p. 1, doi. 10.1177/2041731413519352
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- Article
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 4, p. 306, doi. 10.1002/ajmg.c.31376
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- Publication type:
- Article