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Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.
- Published in:
- International Journal of Dermatology, 2015, v. 54, n. 6, p. e241, doi. 10.1111/ijd.12713
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- Publication type:
- Article
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in <italic>PLOD2</italic>.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 4, p. 753, doi. 10.1002/jbmr.3348
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- Publication type:
- Article
Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.
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- Frontiers in Oncology, 2020, v. 10, p. 1, doi. 10.3389/fonc.2020.00556
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- Publication type:
- Article
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 521, doi. 10.1007/s10038-007-0146-1
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- Publication type:
- Article
Cockayne syndrome type A: novel mutations in eight typical patients.
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- Journal of Human Genetics, 2006, v. 51, n. 8, p. 701, doi. 10.1007/s10038-006-0011-7
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- Publication type:
- 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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- Publication type:
- Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
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- Publication type:
- Article
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.
- Published in:
- Frontiers in Cellular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fncel.2021.803302
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- Publication type:
- Article
Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 282, doi. 10.3390/ijms24010282
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- Publication type:
- Article
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
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- Molecular Neurobiology, 2024, v. 61, n. 8, p. 5230, doi. 10.1007/s12035-023-03894-8
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- Publication type:
- Article
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
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- Molecular Neurobiology, 2023, v. 60, n. 7, p. 3758, doi. 10.1007/s12035-023-03311-0
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- Publication type:
- Article
A new insight into CFTR allele frequency in Brazil through next generation sequencing.
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- Pediatric Pulmonology, 2017, v. 52, n. 10, p. 1300, doi. 10.1002/ppul.23774
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- Publication type:
- Article
Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 1/2, p. 40, doi. 10.1159/000490635
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- Publication type:
- Article
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
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- Molecular Syndromology, 2016, v. 7, n. 1, p. 12, doi. 10.1159/000444729
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- Publication type:
- Article
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 2, p. 87, doi. 10.1159/000407418
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- Publication type:
- Article
Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion.
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- Sexual Development, 2014, v. 8, n. 4, p. 139, doi. 10.1159/000363779
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- Publication type:
- Article
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 122, doi. 10.1038/ejhg.2011.125
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- Publication type:
- Article
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.
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- European Journal of Endocrinology, 2014, v. 171, n. 2, p. 253, doi. 10.1530/EJE-14-0232
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- Publication type:
- 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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- Publication type:
- Article
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.708348
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- Publication type:
- Article
Challenges in the Orthodontic Treatment of a Patient With Pycnodysostosis.
- Published in:
- Cleft Palate Craniofacial Journal, 2014, v. 51, n. 6, p. 735, doi. 10.1597/12-233
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- Publication type:
- Article
Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 51, doi. 10.1159/000522670
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- Publication type:
- Article
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
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- Hormone Research in Paediatrics, 2019, v. 92, n. 2, p. 115, doi. 10.1159/000503782
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- Publication type:
- Article
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 4, p. 252, doi. 10.1159/000500264
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- Publication type:
- Article
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 1, p. 13, doi. 10.1159/000481777
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- Publication type:
- Article
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
- Published in:
- Genes, 2016, v. 7, n. 11, p. 96, doi. 10.3390/genes7110096
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- Publication type:
- 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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- Publication type:
- Article
A Complex Chromosomal Rearrangement Involving Chromosomes 2, 5, and X in Autism Spectrum Disorder.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 5, p. 529, doi. 10.1002/ajmg.b.32059
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- Publication type:
- Article
Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 383, doi. 10.1111/cge.14296
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- Publication type:
- Article
Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis.
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- Clinical Genetics, 2022, v. 101, n. 4, p. 476, doi. 10.1111/cge.14118
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- Publication type:
- Article
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 615, doi. 10.1111/cge.14041
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- Publication type:
- 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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- Publication type:
- Article
A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 7, p. 1, doi. 10.1002/pbc.30311
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- Publication type:
- Article
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
- Published in:
- 2020
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- Publication type:
- case study
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 4, p. 1129, doi. 10.1210/jc.2007-1328
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- Publication type:
- Article
Alterações comportamentais na Síndrome de Noonan: dados preliminares brasileiros.
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- Revista Latinoamericana de Psicología, 2010, v. 42, n. 1, p. 87
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- Publication type:
- Article
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.
- Published in:
- 2019
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- Publication type:
- journal article
Dental Evaluation of Kabuki Syndrome Patients.
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- Cleft Palate Craniofacial Journal, 2009, v. 46, n. 6, p. 668, doi. 10.1597/08-077.1
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- Publication type:
- Article
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0075-6
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- Publication type:
- Article
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 732, doi. 10.1002/ajmg.a.35228
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- Publication type:
- Article
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2479, doi. 10.1002/ajmg.a.34023
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- Publication type:
- Article
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.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1581, doi. 10.1002/ajmg.a.34036
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- Publication type:
- Article
Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1483, doi. 10.1002/ajmg.a.33989
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- Publication type:
- Article
5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 725, doi. 10.1002/ajmg.a.33758
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- Publication type:
- Article
Hyaline fibromatosis syndrome: New unifying term and surgical approach.
- Published in:
- Indian Journal of Pathology & Microbiology, 2012, v. 55, n. 2, p. 262, doi. 10.4103/0377-4929.97903
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- Publication type:
- Article
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-50
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- Publication type:
- Article
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0363-7
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- Publication type:
- Article
Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0142-7
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- Publication type:
- Article
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
- Published in:
- 2022
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- Publication type:
- journal article