Research Explorer

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Tibbe Dhooge

Prijzen & Erkenningen

20 Resultaten

2022

Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitBirute BurnyteSheela NampoothiriDelfien SyxFransiska Malfait

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitSofie SymoensBiruté BurnytéSheela NampoothiriAriana KariminejadFransiska MalfaitDelfien Syx

A1 Artikel in een tijdschrift in HUMAN MUTATION

2021

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Tibbe DhoogeDelfien SyxTrinh Hermanns-LêIngrid HausserGeert MortierJonathan ZonanaSofie SymoensPeter H. ByersFransiska Malfait

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome

Marlies ColmanDelfien SyxInge De WandeleTibbe DhoogeSofie SymoensFransiska Malfait

A1 Artikel in een tijdschrift in HUMAN MUTATION

Exploring collagen-related disorders : beyond the typical clinical and molecular spectrum

Tibbe DhoogeFransiska MalfaitDelfien Syx

Further insights in the FKBP14-related kyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitB. BurnytéS. NampoothiriA. KariminejadDelfien SyxFransiska Malfait

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe DhoogeTim Van DammeDelfien SyxLaura Muiño MosqueraSheela NampoothiriAnil RadhakrishnanPelin O. Simsek-KiperGulen E. UtineMaryse BonduelleIsabelle Migeotte et al.

A1 Artikel in een tijdschrift in HUMAN MUTATION

2020

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe DhoogeTim Van DammeDelfien SyxLaura Muiño MosqueraSheela NampoothiriAnil RadhakrishnanPelin Simsek-KiperGülen Eda UtineMaryse BonduelleIsabelle Migeotte et al.

More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5

Tibbe DhoogeTim Van DammeDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestréeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

2019

Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.

Marlies ColmanInge De WandeleTibbe DhoogeSofie SymoensDelfien SyxFransiska Malfait

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestreeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

2018

Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families

Sarah DelbaereTibbe DhoogeDelfien SyxSofie SymoensFransiska Malfait

Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

2017

Identification of a novel COL1A1 mutation associated with Caffey disease

Tibbe DhoogeDelfien SyxGeert MortierDagmar WieczorekSheila UngerAndreas ZanklToni HospachSofie SymoensFransiska Malfait