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Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.
- Published in:
- Current Issues in Molecular Biology, 2024, v. 46, n. 9, p. 9998, doi. 10.3390/cimb46090597
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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
Frequency of the phenylalanine deletion (ΔF.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 2, p. 89, doi. 10.1111/j.1399-0004.1991.tb02992.x
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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.
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- Human Genetics, 2023, v. 142, n. 3, p. 457, doi. 10.1007/s00439-022-02518-w
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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
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
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
Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
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- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 895, doi. 10.1038/ejhg.2010.45
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- Publication type:
- Article
A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3.
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- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 970, doi. 10.1038/ejhg.2008.31
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- Publication type:
- Article
Czech dysplasia metatarsal type: another type II collagen disorder.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201913
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- Publication type:
- Article
Defective protein glycosylation in patients with cutis laxa syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361
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- Publication type:
- Article
Spectrum of mutations in fucosidosis.
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- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 60, doi. 10.1038/sj.ejhg.5200272
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- Publication type:
- Article
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
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- Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 285, doi. 10.1159/000536324
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- Publication type:
- Article
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 15, doi. 10.1002/mgg3.331
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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
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
- Published in:
- 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.
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- Genes, 2022, v. 13, n. 7, p. 1214, doi. 10.3390/genes13071214
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- Publication type:
- Article
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.
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- Genes, 2021, v. 12, n. 7, p. 1048, doi. 10.3390/genes12071048
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- Publication type:
- Article
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.
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- Brain Pathology, 2018, v. 28, n. 6, p. 822, doi. 10.1111/bpa.12620
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- Publication type:
- Article
Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.
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- 2012
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- Publication type:
- Journal Article
Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears.
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- Audiology & Neurotology, 2012, v. 17, n. 3, p. 198, doi. 10.1159/000336211
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- Publication type:
- Article
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
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- Journal of Human Genetics, 2010, v. 55, n. 2, p. 112, doi. 10.1038/jhg.2009.132
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- Publication type:
- Article
The corneoscleral shape in Marfan syndrome.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 4, p. 405, doi. 10.1111/aos.14636
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- Publication type:
- Article
New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.
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- Polish Archives of Internal Medicine, 2013, v. 123, n. 12, p. 693, doi. 10.20452/pamw.2015
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- Publication type:
- Article
First report of the genetic background of Marfan syndrome in Polish patients.
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- Polish Archives of Internal Medicine, 2013, v. 123, n. 11, p. 646, doi. 10.20452/pamw.1986
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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
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
Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR‐Based Functional Screening of Osteoporosis Candidate Genes.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 9, p. 1749, doi. 10.1002/jbmr.4327
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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
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 8, p. 1445, doi. 10.1002/jbmr.2473
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- Publication type:
- Article
Missense Mutations in LRP5 Are Not a Common Cause of Idiopathic Osteoporosis in Adult Men.
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- Journal of Bone & Mineral Research, 2005, v. 20, n. 11, p. 1951, doi. 10.1359/JBMR.050705
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- Publication type:
- Article
Analysing 454 amplicon resequencingexperiments using the modular and databaseoriented Variant Identification Pipeline.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 269, doi. 10.1186/1471-2105-11-269
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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
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
Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
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- Journal of Clinical Medicine, 2022, v. 11, n. 13, p. 3727, doi. 10.3390/jcm11133727
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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
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1248, doi. 10.1093/hmg/ddr555
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- Publication type:
- Article
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 23, p. 3379, doi. 10.1093/hmg/ddl414
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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
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
Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089749
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- Publication type:
- Article
Practical Tools to Implement Massive Parallel Pyrosequencing of PCR Products in Next Generation Molecular Diagnostics.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025531
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- Publication type:
- 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
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 452, doi. 10.1038/ng1764
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- Publication type:
- Article
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 282, doi. 10.1038/ng1520
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- Publication type:
- Article
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 11, p. 1213, doi. 10.1038/ng1453
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- Publication type:
- Article
Deafness linked to DFNA2: one locus but how many genes?
- Published in:
- Nature Genetics, 1999, v. 21, n. 3, p. 263, doi. 10.1038/6778
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- Publication type:
- Article
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2113, doi. 10.1093/hmg/11.18.2113
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- Publication type:
- Article
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1321, doi. 10.1093/hmg/8.7.1321
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- Publication type:
- Article
Two frequent missense mutations in Pendred syndrome.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1099, doi. 10.1093/hmg/7.7.1099
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- Publication type:
- Article