Research Explorer

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Researcher

Aude Beyens

28 Results

2023

ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes

Silke De FeyterAude BeyensBert Callewaert

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

2022

Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Lore PottieChristin S. AdamoAude BeyensSteffen LuetkePiyanoot TapaneeyaphanAdelbert De ClercqPhil SalmonRiet De RyckeAlper GezdiriciElif Yilmaz Gulec et al.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. AdamoAude BeyensAlvise SchiavinatoDouglas R. KeeneSara F. TufaMatthias MorgelinJurgen BrinckmannTakako SasakiAnja NiehoffMaren Dreiner et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies

Aude BeyensLaure DequekerHilde BremsSandra JanssensHannes SyrynAnne D’HooghePascale De PaepeLieve VanwalleghemAnnelies StockmanElena Vankwikelberge et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa

Pieter RosiersA. DerouxAude BeyensBert CallewaertM.‐T. Leccia

A1 Journal Article in JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

2021

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Annekatrien BoelKrisztina VeszelyiCsilla E. NemethAude BeyensAndy WillaertPaul CouckeBert CallewaertEva Margittai

A1 Journal Article in ANTIOXIDANTS & REDOX SIGNALING

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore PottieChristin S. AdamoAude BeyensSteffen LütkePiyanoot TapaneeyaphanAdelbert De ClercqPhil L. SalmonRiet De RyckeAlper GezdiriciElif Yilmaz Gulec et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)

Lore PottieChristin S. AdamoAude BeyensSteffen LutkePiyanoot TapaneeyaphanAdelbert De ClercqPhil L. SalmonRiet De RyckeAlper GezdiriciElif Yilmaz Gulec et al.

Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis

Aude BeyensLore PottiePatrick SipsBert Callewaert

Bookchapter in Progress in Heritable Soft Connective Tissue Diseases

Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)

Aude BeyensLore PottiePatrick SipsBert Callewaert

Bookchapter in Progress in Heritable Soft Connective Tissue Diseases

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude BeyensAnnekatrien BoelSofie SymoensBert Callewaert

A1 Journal Article in CLINICAL GENETICS

Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations

Maxim VerleeAude BeyensAlper GezdiriciElif GulecLore PottieSilke De FeyterMichiel VanhooydonckPiyanoot TapaneeyaphanSofie SymoensBert Callewaert

A1 Journal Article in GENES

Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families

Fiona McKenzieKym MinaBert CallewaertAude BeyensJan E. DickinsonGareth JevonJohn PapadimitriouBirgitte Rode DinessJesper Norman SteensbergJakob Ek et al.

A1 Journal Article in CLINICAL GENETICS

2020

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

Stylianos Z KarouliasAude BeyensZerina BalicSofie SymoensAnthony VandersteenAndrea L RideoutJohn DickinsonBert CallewaertDirk Hubmacher

A1 Journal Article in MATRIX BIOLOGY

Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia

Aude BeyensC. AdamoE. Yilmaz GulecA. GezdiriciP. BonaldoH. BornaunE. BrauchleJ. BrinckmannW. P. DevineB. Gangaram et al.

Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome

Lore PottieAlper GezdiriciChristin AdamoWilliam NewmanAude BeyensRiet De RyckeAdelbert De ClercqPatrick SipsGerhard SengleBert Callewaert

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

Annekatrien BoelJoyce BurgerMarine VanhomwegenAude BeyensMarjolijn RenardSander BarnhoornChristophe CasteleynDieter ReinhardtBenedicte DescampsChristian Vanhove et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

2019

ATP6V0A2-related cutis laxa in 10 novel patients : focus on clinical variability and expansion of the phenotype

Aude BeyensEster Moreno-ArteroChristine BodemerHelen CoxAlper GezdiriciElif Yilmaz GulecNajoua KahloulPhilippe Khau Van KienGonul OgurAnnie Harroche et al.

A1 Journal Article in EXPERIMENTAL DERMATOLOGY

Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaWaheed Al-ManeaDamien BonnetOzlem BostanOdile BouteTiffany BusaNathalie Canham et al.

Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature

Aude BeyensKyaran Van MeenselLore PottieRiet De RyckeMichiel De BruyneFemke BaekePiet HoebekeFrank PlasschaertBart LoeysSofie De Schepper et al.

A1 Journal Article in GENES

Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeKatrien BonteTine De BackerSandra JanssensJoseph PanzerFrank PlasschaertDaniël De Wolf et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two novel probands with Myhre syndrome identified through WES

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeBjörn MentenKatrien BonteTine De BackerSandra JanssensFransiska MalfaitJoseph Panzer et al.

2018

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaWaheed Al-ManeaDamien BonnetOzlem BostanOdile BouteTiffany BusaNathalie Canham et al.

A1 Journal Article in GENETICS IN MEDICINE

Clinicopathological findings in cutis laxa syndromes

Aude BeyensSofie De SchepperBert Callewaert

Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification

Aude BeyensRiet De RyckeHannes SyrynBjörn Fischer-ZirnsakTim Van DammeIngrid HausserMichiel De BruyneManrico MorroniS NampoothiriK. Mahesh et al.

2017

Arterial tortuosity syndrome : 37 new families and literature review

Aude BeyensJuliette AlbuissonT BusaN CanhamJM ChopinM DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper Gezdirici et al.

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaDamien BonnetO BostanOdile BouteT BusaN CanhamErgun Cil et al.

2016

Arterial tortuosity syndrome : 29 novel families

Aude BeyensJuliette AlbuissonT BusaN CanhamJM CM. DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper Gezdirici et al.