Found: 52
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Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 4, p. 1, doi. 10.15252/emmm.202216834
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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.
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- 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
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
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-78
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- Publication type:
- Article
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
- Published in:
- 2013
- By:
- 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
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
- Published in:
- 2011
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- Publication type:
- journal 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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- Publication type:
- Article
Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 908, doi. 10.1002/ajmg.a.61119
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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
Dermatosparaxis ( Ehlers- Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1122, doi. 10.1002/ajmg.a.35802
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- Publication type:
- Article
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 3, p. 666, doi. 10.1002/jbmr.250
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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
ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1142, doi. 10.1111/exd.13723
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- Publication type:
- Article
A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement.
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- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020121
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- Publication type:
- Article
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.
- Published in:
- 2019
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- Publication type:
- journal article
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pgen.1009339
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- Publication type:
- Article
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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- Publication type:
- Article
The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 3, p. 990, doi. 10.3390/jcm12030990
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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
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
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- 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
Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients.
- Published in:
- FASEB Journal, 2014, v. 28, n. 11, p. 4668, doi. 10.1096/fj.14-249656
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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
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
Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 447, doi. 10.1111/cge.14012
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- Publication type:
- Article
Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 53, doi. 10.1111/cge.13865
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- Publication type:
- Article
A Novel Mutation in the Lysyl Hydroxylase 1 Gene Causes Decreased Lysyl Hydroxylase Activity in an Ehlers–Danlos VIA Patient.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 124, n. 5, p. 914, doi. 10.1111/j.0022-202X.2005.23727.x
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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
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
Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1853, doi. 10.1093/hmg/ddz024
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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
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
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 6, p. 793, doi. 10.1007/s00401-023-02565-1
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- Publication type:
- Article
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1994, doi. 10.1002/humu.24456
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- Publication type:
- Article
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1294, doi. 10.1002/humu.24258
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- Publication type:
- Article
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 711, doi. 10.1002/humu.24199
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- Publication type:
- Article
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis.
- Published in:
- Human Mutation, 2015, v. 36, n. 5, p. 535, doi. 10.1002/humu.22774
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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
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1485, doi. 10.1002/humu.22137
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- Publication type:
- Article
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. 1233, doi. 10.1002/humu.21355
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- Publication type:
- Article
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E395, doi. 10.1002/humu.20887
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- Publication type:
- Article
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
- Published in:
- Human Mutation, 2007, v. 28, n. 4, p. 387, doi. 10.1002/humu.20455
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- Publication type:
- Article
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
- Published in:
- Human Mutation, 2007, v. 28, n. 3, p. 209, doi. 10.1002/humu.20429
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- Publication type:
- Article
The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients.
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 28, doi. 10.1002/humu.20107
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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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- Publication type:
- Article
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 510, doi. 10.3390/genes12040510
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- Publication type:
- Article
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 762, doi. 10.3390/genes10100762
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- Publication type:
- Article
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.
- Published in:
- Genes, 2019, v. 10, n. 7, p. 528, doi. 10.3390/genes10070528
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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
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