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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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- 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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- 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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- Article
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
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- 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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- 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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- 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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- 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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- 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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- Article
Photoconvertible fluorescent proteins: a versatile tool in zebrafish skeletal imaging.
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- Journal of Fish Biology, 2021, v. 98, n. 4, p. 1007, doi. 10.1111/jfb.14335
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- Article
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 74, doi. 10.1111/cge.13751
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- Article
Vascular Ehlers–Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations.
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- 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.
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- 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.
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- 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.
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- Brain Pathology, 2018, v. 28, n. 6, p. 822, doi. 10.1111/bpa.12620
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- 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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- Article
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
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- International Journal of Dermatology, 2017, v. 56, n. 12, p. 1406, doi. 10.1111/ijd.13778
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- Article
GLUT10--Lacking in Arterial Tortuosity Syndrome--Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1820, doi. 10.3390/ijms18081820
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- Article
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1047, doi. 10.1002/ajmg.a.38135
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- Article
A Novel Fibrillin–1 Mutation in an Egyptian Marfan Family: A Proband Showing Nephrotic Syndrome Due to Focal Segmental Glomerulosclerosis.
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- 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.
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- Journal of Bone & Mineral Research, 2016, v. 31, n. 11, p. 1930, doi. 10.1002/jbmr.2977
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- Article
Glucose transporter type 10--lacking in arterial tortuosity syndrome--facilitates dehydroascorbic acid transport.
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- 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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- 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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- 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.
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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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- Article
Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum.
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- Journal of Investigative Dermatology, 2015, v. 135, n. 4, p. 992, doi. 10.1038/jid.2014.421
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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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- Article
Illumina sequencing of 15 deafness genes using fragmented amplicons.
- Published in:
- BMC Research Notes, 2014, v. 7, p. 1, doi. 10.1186/1756-0500-7-509
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- Article
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-66
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- Publication type:
- Article
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.
- Published in:
- 2014
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- Publication type:
- journal article
First report of the genetic background of Marfan syndrome in Polish patients.
- Published in:
- Polish Archives of Internal Medicine, 2013, v. 123, n. 11, p. 646, doi. 10.20452/pamw.1986
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- Article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-154
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- Publication type:
- Article
Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2352, doi. 10.1002/ajmg.a.36077
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- Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-36
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- Publication type:
- Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
- Published in:
- 2013
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- Publication type:
- journal article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
- Published in:
- 2013
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- Publication type:
- journal article
Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.
- Published in:
- 2012
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- Publication type:
- Journal Article
Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears.
- Published in:
- Audiology & Neurotology, 2012, v. 17, n. 3, p. 198, doi. 10.1159/000336211
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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
Association between bone mineral density and hearing loss in osteogenesis imperfecta.
- Published in:
- Laryngoscope, 2012, v. 122, n. 2, p. 401, doi. 10.1002/lary.22408
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- Publication type:
- Article
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2855, doi. 10.1002/ajmg.a.34264
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- Publication type:
- Article
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 1053, doi. 10.1002/humu.21525
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- Publication type:
- Article
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. 445, doi. 10.1002/humu.21462
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- Article
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
- Published in:
- 2011
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- Publication type:
- journal article
Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
- Published in:
- 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
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 2, p. 112, doi. 10.1038/jhg.2009.132
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- Publication type:
- Article