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Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63802
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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
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
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
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
Familial spongiform encephalopathy associated with a novel prion protein gene mutation.
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- Annals of Neurology, 1997, v. 42, n. 2, p. 138, doi. 10.1002/ana.410420203
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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
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
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
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
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
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
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
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 145, doi. 10.1038/sj.ejhg.5201955
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- Article
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
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- 2005
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- Correction notice
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1033, doi. 10.1038/sj.ejhg.5201289
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- Article
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.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 521, doi. 10.1038/sj.ejhg.5201187
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- Article
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 718, doi. 10.1038/sj.ejhg.5201029
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- Article
Clinical variability in calpainopathy: What makes the difference?
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 825, doi. 10.1038/sj.ejhg.5200888
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- Article
High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 811, doi. 10.1038/sj.ejhg.5200721
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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
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
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
Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family.
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- Cleft Palate Craniofacial Journal, 2010, v. 47, n. 5, p. 548, doi. 10.1597/08-251.1
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- Article
Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients.
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- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 2, p. 148, doi. 10.1597/04-206.1
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- Article
Transforming Growth Factor- α and Nonsyndromic Cleft Lip With or Without Palate in Brazilian Patients: Results of a Large Case-Control Study.
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- Cleft Palate Craniofacial Journal, 2004, v. 41, n. 4, p. 387, doi. 10.1597/03-054.1
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- Article
Stem cell proliferation under low intensity laser irradiation: A preliminary study.
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- Lasers in Surgery & Medicine, 2008, v. 40, n. 6, p. 433, doi. 10.1002/lsm.20646
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- Article
Estimate of the Intrafamilial Correlation for Serum Creatine Kinase and Pyruvate Kinase in Females at Risk for Duchenne and Becker Muscular Dystrophies.
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- Human Heredity, 1991, v. 41, n. 6, p. 370, doi. 10.1159/000154029
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- Article
Estimates of Conditional Heterozygosity Risks for Young Females in Duchenne Muscular Dystrophy.
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- Human Heredity, 1989, v. 39, n. 4, p. 202, doi. 10.1159/000153861
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- Article
Lead contamination in human milk affects infants' language trajectory: results from a prospective cohort study.
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- Frontiers in Public Health, 2024, p. 1, doi. 10.3389/fpubh.2024.1450570
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- Article
Genetics and Management of the Patient with Orofacial Cleft.
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- Plastic Surgery International, 2012, p. 1, doi. 10.1155/2012/782821
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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
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
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
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, 2013, v. 6, n. 5, p. 354, doi. 10.1002/aur.1296
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- Article
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
A Novel Autosomal Recessive <i>GJA1</i> Missense Mutation Linked to Craniometaphyseal Dysplasia.
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- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073576
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- Article
Susceptibility to DNA Damage as a Molecular Mechanism for Non-Syndromic Cleft Lip and Palate.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065677
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- Article
Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome.
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- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060439
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- Article
Deletion of the Basement Membrane Heparan Sulfate Proteoglycan Type XVIII Collagen Causes Hypertriglyceridemia in Mice and Humans.
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- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013919
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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
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
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
- Published in:
- Nature Genetics, 1998, v. 20, n. 1, p. 37, doi. 10.1038/1689
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- Article
Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 9, p. 1, doi. 10.1371/journal.pgen.1002278
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- Article
HLA-G genetic diversity and evolutive aspects in worldwide populations.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-02106-4
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- Article
Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 401
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- Article
Point mutation in a Becker muscular dystrophy patient.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 75
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- Publication type:
- Article
Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene–environment interaction.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38526-1
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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