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Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
- Published in:
- Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 285, doi. 10.1159/000536324
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- Article
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
- Published in:
- Journal of Bone & Mineral Research, 2023, v. 38, n. 11, p. 1718, doi. 10.1002/jbmr.4914
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- Publication type:
- Article
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
- Published in:
- Human Genetics, 2023, v. 142, n. 3, p. 457, doi. 10.1007/s00439-022-02518-w
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- Article
Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.
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- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1893, doi. 10.3390/jcm12051893
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- Publication type:
- Article
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
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- Genes, 2023, v. 14, n. 1, p. 105, doi. 10.3390/genes14010105
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- Publication type:
- Article
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1214, doi. 10.3390/genes13071214
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- Article
Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 13, p. 3727, doi. 10.3390/jcm11133727
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- Article
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
- Published in:
- 2022
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- Publication type:
- journal article
G Protein‐Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R4783
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- Publication type:
- Article
Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI.
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- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 3, p. 609, doi. 10.1007/s10815-022-02401-7
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- Publication type:
- Article
Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR‐Based Functional Screening of Osteoporosis Candidate Genes.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 9, p. 1749, doi. 10.1002/jbmr.4327
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- Publication type:
- Article
Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 7, p. 968, doi. 10.1093/clinchem/hvab021
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- Publication type:
- Article
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1048, doi. 10.3390/genes12071048
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- Publication type:
- Article
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 6, p. 1, doi. 10.1371/journal.pgen.1009603
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- Publication type:
- Article
The corneoscleral shape in Marfan syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 4, p. 405, doi. 10.1111/aos.14636
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- Publication type:
- Article
G Protein‐Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.02961
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- Publication type:
- Article
Photoconvertible fluorescent proteins: a versatile tool in zebrafish skeletal imaging.
- Published in:
- Journal of Fish Biology, 2021, v. 98, n. 4, p. 1007, doi. 10.1111/jfb.14335
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- Publication type:
- Article
Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-71412-0
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- Publication type:
- Article
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 74, doi. 10.1111/cge.13751
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- Publication type:
- Article
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1476, doi. 10.1093/hmg/ddaa071
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- Publication type:
- Article
Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-54608-x
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- Publication type:
- Article
Vascular Ehlers–Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2019, v. 77, n. 11, p. 1070, doi. 10.33963/KP.15005
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- Publication type:
- Article
homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1 -related osteogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1801, doi. 10.1093/hmg/ddz017
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- Publication type:
- Article
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2019, p. 1, doi. 10.1155/2019/8156592
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- Publication type:
- Article
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.
- Published in:
- Brain Pathology, 2018, v. 28, n. 6, p. 822, doi. 10.1111/bpa.12620
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- Publication type:
- Article
Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33869-y
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- Publication type:
- Article
Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series.
- Published in:
- European Journal of Oral Sciences, 2018, v. 126, n. 1, p. 24, doi. 10.1111/eos.12391
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- Publication type:
- Article
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 15, doi. 10.1002/mgg3.331
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- Publication type:
- Article
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
- Published in:
- International Journal of Dermatology, 2017, v. 56, n. 12, p. 1406, doi. 10.1111/ijd.13778
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- Publication type:
- Article
MicroCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.26014
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- Publication type:
- Article
GLUT10--Lacking in Arterial Tortuosity Syndrome--Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1820, doi. 10.3390/ijms18081820
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- Publication type:
- Article
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1047, doi. 10.1002/ajmg.a.38135
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- Publication type:
- Article
A Novel Fibrillin–1 Mutation in an Egyptian Marfan Family: A Proband Showing Nephrotic Syndrome Due to Focal Segmental Glomerulosclerosis.
- Published in:
- Saudi Journal of Kidney Diseases & Transplantation, 2017, v. 28, n. 1, p. 141, doi. 10.4103/1319-2442.198166
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- Publication type:
- Article
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 11, p. 1930, doi. 10.1002/jbmr.2977
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- Publication type:
- Article
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 812, doi. 10.1002/humu.22999
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- Publication type:
- Article
BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.
- Published in:
- Scientific Reports, 2016, p. 30330, doi. 10.1038/srep30330
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- Publication type:
- Article
Glucose transporter type 10--lacking in arterial tortuosity syndrome--facilitates dehydroascorbic acid transport.
- Published in:
- FEBS Letters, 2016, v. 590, n. 11, p. 1630, doi. 10.1002/1873-3468.12204
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- Publication type:
- Article
An Exploratory Case-Control Study on the Impact of IL -1 Gene Polymorphisms on Early Implant Failure.
- Published in:
- Clinical Implant Dentistry & Related Research, 2016, v. 18, n. 2, p. 234, doi. 10.1111/cid.12237
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- Publication type:
- Article
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0275-5
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- Publication type:
- Article
Association Between Kniest Dysplasia and Chondrosarcoma in a Child.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3204, doi. 10.1002/ajmg.a.37361
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- Publication type:
- Article
Altered cytoskeletal organization characterized lethal but not surviving Brtl<sup>+/-</sup> mice: insight on phenotypic variability in osteogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 21, p. 6118, doi. 10.1093/hmg/ddv328
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- Publication type:
- Article
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.
- Published in:
- Disease Markers, 2015, p. 1, doi. 10.1155/2015/828970
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- Publication type:
- Article
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.
- Published in:
- Journal of Bone & Mineral Research, 2015, v. 30, n. 8, p. 1445, doi. 10.1002/jbmr.2473
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- Publication type:
- Article
Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 4, p. 992, doi. 10.1038/jid.2014.421
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- Publication type:
- Article
Comparison of Methods for In-House Screening of HLA-B*57:01 to Prevent Abacavir Hypersensitivity in HIV-1 Care.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123525
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- Publication type:
- Article
Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 379, doi. 10.1002/humu.22739
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- Publication type:
- Article
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0221-6
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- Publication type:
- Article
The Soft Tissue Immunologic Response to Hydroxyapatite-Coated Transmucosal Implant Surfaces: A Study in Humans.
- Published in:
- Clinical Implant Dentistry & Related Research, 2015, v. 17, p. e65, doi. 10.1111/cid.12128
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- Publication type:
- Article
Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1330, doi. 10.1002/humu.22677
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- Publication type:
- Article
Expressed Repeat Elements Improve RT-qPCR Normalization across a Wide Range of Zebrafish Gene Expression Studies.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109091
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- Publication type:
- Article