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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371
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- Publication type:
- Article
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.274
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- Publication type:
- Article
Clinical utility gene card for: osteogenesis imperfecta.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.210
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- Publication type:
- Article
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 487, doi. 10.1038/ejhg.2012.206
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- Publication type:
- Article
In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3417, doi. 10.3390/ijms25063417
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- Publication type:
- Article
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 407, doi. 10.3390/genes13030407
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- Publication type:
- Article
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 11, doi. 10.1038/ejhg.2011.141
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- Publication type:
- Article
The clinical spectrum of complete FBN1 allele deletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
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- Publication type:
- Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
- Published in:
- 2009
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- Publication type:
- Correction notice
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
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- Publication type:
- Article
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 930, doi. 10.1038/sj.ejhg.5201865
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- Publication type:
- Article
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
- Published in:
- Nature Genetics, 2011, v. 43, n. 2, p. 121, doi. 10.1038/ng.744
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- Publication type:
- Article
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
- Published in:
- Nature Genetics, 2007, v. 39, n. 2, p. 159, doi. 10.1038/ng1942
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- Publication type:
- Article
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
- Published in:
- 2005
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- Publication type:
- Letter
X-linked inheritance of Fanconi anemia complementation group B.
- Published in:
- Nature Genetics, 2004, v. 36, n. 11, p. 1219, doi. 10.1038/ng1458
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- Publication type:
- Article
The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas.
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- Molecular Human Reproduction, 2004, v. 10, n. 8, p. 589, doi. 10.1093/molehr/gah080
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- Publication type:
- Article
Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.869604
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- Publication type:
- Article
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.732728
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- Publication type:
- Article
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 89, doi. 10.1002/ajmg.c.31968
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- Publication type:
- Article
'Identical' twins with discordant karyotypes.
- Published in:
- 1999
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- Publication type:
- journal article
Inflammation Aggravates Disease Severity in Marfan Syndrome Patients.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032963
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- Publication type:
- Article
Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer.
- Published in:
- Journal of Pathology, 2001, v. 195, n. 4, p. 451, doi. 10.1002/path.1000
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- Publication type:
- Article
TGFB1 gene polymorphisms and inflammatory bowel disease.
- Published in:
- Immunogenetics, 2000, v. 51, n. 10, p. 869, doi. 10.1007/s002510000211
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- Publication type:
- Article
Collagen transport and related pathways in Osteogenesis Imperfecta.
- Published in:
- Human Genetics, 2021, v. 140, n. 8, p. 1121, doi. 10.1007/s00439-021-02302-2
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- Publication type:
- Article
Mapping the Response of Human Osteocytes in Native Matrix to Mechanical Loading Using RNA Sequencing.
- Published in:
- JBMR Plus, 2023, v. 7, n. 4, p. 1, doi. 10.1002/jbm4.10721
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- Publication type:
- Article
Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva.
- Published in:
- JBMR Plus, 2020, v. 4, n. 6, p. 1, doi. 10.1002/jbm4.10363
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- Publication type:
- Article
Flare‐Up After Maxillofacial Surgery in a Patient With Fibrodysplasia Ossificans Progressiva: An [<sup>18</sup>F]‐NaF PET/CT Study and a Systematic Review.
- Published in:
- JBMR Plus, 2018, v. 2, n. 1, p. 55, doi. 10.1002/jbm4.10008
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- Publication type:
- Article
Bioactivity of compounds secreted by symbiont bacteria of Nudibranchs from Indonesia.
- Published in:
- PeerJ, 2020, p. 1, doi. 10.7717/peerj.8093
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- Publication type:
- Article
From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 281, doi. 10.3390/biom13020281
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- Publication type:
- Article
The intricate mechanism of PLS3 in bone homeostasis and disease.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1168306
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- Publication type:
- Article
Exploration of the skeletal phenotype of the Col1a1<sup>+/Mov13</sup> mouse model for haploinsufficient osteogenesis imperfecta type 1.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 01, doi. 10.3389/fendo.2023.1145125
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- Publication type:
- Article
Mechanical stress regulates bone regulatory gene expression independent of estrogen and vitamin D deficiency in rats.
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- Journal of Orthopaedic Research, 2021, v. 39, n. 1, p. 42, doi. 10.1002/jor.24775
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- Publication type:
- Article
Muscle weakness as presenting symptom of osteogenesis imperfecta.
- Published in:
- 2006
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- Publication type:
- journal article
Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report.
- Published in:
- 2022
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- Publication type:
- Case Study
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 159, doi. 10.1002/humu.20625
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- Publication type:
- Article
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
- Published in:
- Human Mutation, 2006, v. 27, n. 2, p. 214, doi. 10.1002/humu.9402
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- Publication type:
- Article
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
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- Human Mutation, 2002, v. 19, n. 4, p. 443, doi. 10.1002/humu.10054
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- Publication type:
- Article
Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream.
- Published in:
- Human Mutation, 1998, v. 11, p. S25, doi. 10.1002/humu.1380110109
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- Publication type:
- Article
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 12, p. e57, doi. 10.1093/nar/gnf056
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- Publication type:
- Article
BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.
- Published in:
- Breast Cancer Research & Treatment, 2007, v. 106, n. 2, p. 297, doi. 10.1007/s10549-006-9493-4
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- Publication type:
- Article
High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model.
- Published in:
- Breast Cancer Research & Treatment, 2006, v. 96, n. 2, p. 177, doi. 10.1007/s10549-005-9077-8
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- Publication type:
- Article
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 653, doi. 10.1002/humu.23403
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- Publication type:
- Article
Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. 439, doi. 10.1002/humu.23174
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- Publication type:
- Article
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1145, doi. 10.1002/humu.22854
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- Publication type:
- Article
RNA Sequencing of Creatine Transporter ( SLC6 A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix.
- Published in:
- Human Mutation, 2014, v. 35, n. 9, p. 1128, doi. 10.1002/humu.22609
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- Publication type:
- Article
Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta.
- Published in:
- Human Mutation, 2012, v. 33, n. 12, p. 1697, doi. 10.1002/humu.22146
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- Publication type:
- Article
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. E1915, doi. 10.1002/humu.21372
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- Publication type:
- Article
Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-18512-1
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- Publication type:
- Article
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 479, doi. 10.1002/ajmg.a.63047
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- Publication type:
- Article
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997
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- Publication type:
- Article