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Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

Clinical genetics, 2017-12, Vol.92 (6), p.624-631

2017

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A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Clinical genetics, 2018-01, Vol.93 (1), p.126-133

2018

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Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene

Bulletin of experimental biology and medicine, 2020-11, Vol.170 (1), p.58-63

2020

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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

Balkan journal of medical genetics, 2018-10, Vol.21 (1), p.47-52

2018

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A New Pseudorigorous Lidar System Calibration Strategy with Minimal Requirements and Higher Capability

Photogrammetric engineering and remote sensing, 2019-04, Vol.85 (4), p.313-321

2019

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Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

British journal of dermatology (1951), 2013-04, Vol.168 (4), p.904-906

2013

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GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

Human molecular genetics, 2015-12, Vol.24 (23), p.6769-6787

2015

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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.58-58, Article 58

2013

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The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Journal of dermatological science, 2009-03, Vol.53 (3), p.222-225

2009

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Mutations in TGFBR2 gene cause spontaneous cervical artery dissection

Journal of neurology, neurosurgery and psychiatry, 2011-12, Vol.82 (12), p.1372-1374

2011

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Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa: Correspondence

British journal of dermatology (1951), 2013-04, Vol.168 (4), p.904-906

2013

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Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples

Veterinary microbiology, 2003-07, Vol.94 (2), p.105-120

2003

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Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio

The International journal of developmental biology, 2011, Vol.55 (2), p.229

2011

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Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin

Journal of interferon & cytokine research, 2005-04, Vol.25 (4), p.202-208

2005

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Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

The British journal of dermatology, 2013, Vol.168 (4), p.904-906

2013

Volltextzugriff (PDF)

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Journal of dermatological science, 2009, Vol.53 (3), p.222-225

2009

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Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy

Biochimica et biophysica acta. Molecular basis of disease, 2020-06, Vol.1866 (6), p.165742-165742, Article 165742

2020

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TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

Human mutation, 2019-10, Vol.40 (10), p.1886-1898

2019

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COL6A5 variants in familial neuropathic chronic itch

Brain (London, England : 1878), 2017-03, Vol.140 (3), p.555-567

2017

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Generalized Logistic Equations in Covid-Related Epidemic Models

Analysis of Infectious Disease Problems (Covid-19) and Their Global Impact, p.93-112

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A nonlinear variational problem of profit maximization with convex costs

International journal of contemporary mathematical sciences, 2006, p.267-283

2006

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Higher Order Approximation of the Period-energy Function for Single Degree of Freedom Hamiltonian Systems

Meccanica (Milan), 2004-08, Vol.39 (4), p.357-368

2004

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Opis svojstava ekstra djevičanskog maslinovog ulja dobivenog iz raznih kultivara

Pomologia Croatica, 2006-03, Vol.12 (1), p.29

2006

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Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene

Clinical variability in two Macedonian families with Arterial tortuosity syndrome

A New Pseudorigorous Lidar System Calibration Strategy with Minimal Requirements and Higher Capability

Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection

Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa: Correspondence

Use of a macrophage cell line for rapid detection of Mycobacterium bovis in diagnostic samples

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio

Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin

Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

COL6A5 variants in familial neuropathic chronic itch

Generalized Logistic Equations in Covid-Related Epidemic Models

A nonlinear variational problem of profit maximization with convex costs

Higher Order Approximation of the Period-energy Function for Single Degree of Freedom Hamiltonian Systems

Opis svojstava ekstra djevičanskog maslinovog ulja dobivenog iz raznih kultivara

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