Ghent University Academic Bibliography

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Your filters: cql: author="Colombi, M" or (type any "bookEditor journalEditor issueEditor" and editor="Colombi, M")

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- Journal Article
- A1
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul Coucke (UGent) , Andy Willaert (UGent) , MW WESSELS, Bert Callewaert (UGent) , N ZOPPI, Julie De Backer (UGent) , JE FOX, GMS MANCINI, M KAMBOURIS, R GARDELLA, et al.

(2006) NATURE GENETICS. 38(4). p.452-457
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- Journal Article
- A1
Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha(2)beta(1) integrin, and recruit alpha(v)beta(3) instead of alpha(5)beta(1) integrin

N ZOPPI, R GARDELLA, Anne De Paepe (UGent) , S BARLATI and M COLOMBI

(2004) JOURNAL OF BIOLOGICAL CHEMISTRY. 279(18). p.18157-18168
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Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Paul Coucke (UGent) , MW Wessels, Petra Van Acker (UGent) , R Gardella, S Barlati, PJ Willems, M Colombi and Anne De Paepe (UGent)

(2003) JOURNAL OF MEDICAL GENETICS. 40(10). p.747-751
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- Conference Paper
- C3
Homozygosity mapping of a gene for arterial tortuosity snydrome

Paul Coucke (UGent) , NW WESSELS, Petra Van Acker (UGent) , R GARDELLA, S BARLATI, PJ WILLEMS, M COLOMBI and Anne De Paepe (UGent)

(2003) AMERICAN JOURNAL OF HUMAN GENETICS. 73(5). p.572-572
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Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

R GARDELLA, Lieve Nuytinck (UGent) , S BARLATI, Petra Van Acker (UGent) , G TADINI, Anne De Paepe (UGent) and M COLOMBI

(2001) CLINICAL AND EXPERIMENTAL DERMATOLOGY. 26(8). p.710-713

Academic Bibliography

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha(2)beta(1) integrin, and recruit alpha(v)beta(3) instead of alpha(5)beta(1) integrin

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Homozygosity mapping of a gene for arterial tortuosity snydrome

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

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