Research Explorer

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Researcher

Geert Mortier

Awards & Distinctions

207 Results

2025

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

Evi DuthooElien BeylsLynn BackersThorkell GudjónssonPeiquan HuangLeander JonckheereSebastian RiemannBram PartonLikun DuVeronique Debacker et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

2017

Aangeboren oorzaak van pijn in de rug en benen

Genoveva Aleksieva-IvkovaFilip VanhoenackerGeert MortierPaul M Parizel

A2 Journal Article in ORTHO-RHEUMATO

Identification of a novel COL1A1 mutation associated with Caffey disease

Tibbe DhoogeDelfien SyxGeert MortierDagmar WieczorekSheila UngerAndreas ZanklToni HospachSofie SymoensFransiska Malfait

Une cause congénitale de douleur dans le dos et dans les jambes

Genoveva Aleksieva-IvkovaFilip VanhoenackerGeert MortierPaul M Parizel

A4 Journal Article in ORTHO-RHUMATO

2016

Stickler syndrome: comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

2015

Focal growth disturbances

Filip VanhoenackerGeert Mortier

Bookchapter in Musculoskeletal imaging

2014

Disfluency: it is not always stuttering

Marjan CosynsYvonne van ZaalenGeert MortierSandra JanssensAnnelies AmezJohanna Van DammeJohn Van Borsel

A1 Journal Article in CLINICAL GENETICS

Klippel-Feil syndrome

K Van LooverenFilip VanhoenackerGeert MortierPM Parizel

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMarkus J van RoosmalenKaren Duran et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

2013

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah VergultA Jeannette M HoogeboomEmilia K BijlsmaTom SanteEva KlopockiBram De WildeMarjolijn JongmansChristian ThielJoke BGM VerheijAntonio Perez-Aytes et al.

A1 Journal Article in GENETICS IN MEDICINE

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Gea BeundersEls VoorhoeveChristelle GolzioLuba M PardoJill A RosenfeldMichael E TalkowskiIngrid SimonicAnath C LionelSarah VergultRobert E Pyatt et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Fransiska MalfaitSofie SymoensNathalie GoemansYolanda GyftodimouEva HolmbergVanesa Lopez-GonzalezGeert MortierSheela NampoothiriMichael Bjorn PetersenAnne De Paepe

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK Duran et al.

Morquio type B syndrome

L AugsburgFilip VanhoenackerM SpaepenPaul M ParizelGeert Mortier

Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

Stem bij patiënten met neurofibromatose type 1

Marjan CosynsGeert MortierSandra JanssensPaul CorthalsJohn Van Borsel

A2 Journal Article in STEM- SPRAAK- EN TAALPATHOLOGIE

2012

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

Sarah VergultAndrew DauberBARBARA DELLE CHIAIEElke Van OudenhoveMarleen SimonAli RihaniBart LoeysJoel HirschhornJean PfotenhauerJohn A Phillips et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Articulation in schoolchildren and adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensFamke BogaertStephanie D'HondtJohn Van Borsel

A1 Journal Article in JOURNAL OF COMMUNICATION DISORDERS

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah VergultJeanette HoogeboomEK BijlsmaTom SanteEva KlopockiBram De WildeMarjolein JongmansChristian ThielJ VerheijA Perez-Aytes et al.

Genomic structural variation in patients with intellectual disability and congenital anomalies

Sarah VergultBjörn MentenGeert Mortier

Maroteaux-Lamy syndrome

W VerwimpFilip VanhoenackerPaul ParizelGeert Mortier

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK Duran et al.

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Paulien A TerhalPaula van DommelenMartine Le MerrerAndreas ZanklMarleen EH SimonSarah F SmithsonCarlo MarcelisBronwyn KerrEsther KinningSahar Mansour et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Nasal speech in patients with 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetAgne LiedénBritt-Marie AnderlidFreddie SharkeyShelagh JossGeert MortierBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

Julie DésirMarie CassartCatherine DonnerPaul CouckeMarc AbramowiczGeert Mortier

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Voice-related quality of life in adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensJohn Van Borsel

A1 Journal Article in JOURNAL OF VOICE

2011

12.5 Gbits/s carrier-depletion based silicon Mach-Zehnder modulation with a 2 V driven voltage

Hui YuWim BogaertsKatarzyna KomorowskaJ Van CampenhoutP VerheyenPP AbsilRoel Baets

A CMOS integrated opto-electronic receiver for automotive applications using 1mm POF

Jasmien PutJohan BauwelinckXin YinXing-Zhi QiuJan VandewegeO ChaslesA DevosP De Pauw

All-optical de-multiplexing of 10 Gbps data using III-V/SOI microdisk resonators

Rajesh KumarThijs SpuesensPauline MechetJM FedeliN OlivierP RegrenyGünther RoelkensDries Van ThourhoutGeert Morthier

Articulation skills of Flemish patients with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensFamke BogaertStephanie D'HondtJohn Van Borsel

CAPHE: a circuit-level time-domain and frequency-domain modeling tool for nonlinear optical components

Martin FiersThomas Van VaerenberghPieter DumonKen CaluwaertsBenjamin SchrauwenJoni DambrePeter Bienstman

Complex genetics of radial ray deficiencies: screening of a cohort of 50 patients

Sarah VergultJeanette HoogeboomEK BijlsmaTom SanteEva KlopockiBram De WildeMarjolein JongmansChristian ThielJ VerheijA Perez-Aytes et al.

Delays in photonic reservoir computing with semiconductor optical amplifiers

Kristof VandoorneDavid VerstraetenBenjamin SchrauwenJoni DambrePeter Bienstman

Demonstration of a Ce: YIG/SOI isolator bt BCB bonding

Samir GhoshShahram KeyvaniniaW Van RoyT MizumotoGünther RoelkensRoel Baets

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

Jeff M MilunskyTom M MaherGeping P ZhaoZhenyuan WangJohn B MullikenDavid ChitayatMichele ClemensHeather J StalkerMislen BauerMichele Burch et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Improved multi-mode interferometers (MMIs) on silicon-on-insulator with the optimized return loss and isolation

Yanlu LiRoel Baets

Integrated spectrometer on silicon on insulator

Günay YurtseverRoel Baets

Modelling of all-optical signal processing using SOI PICs with amorphous silicon

Pijush Kumar PalGeert Morthier

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetAgne LiedénBritt-Marie AnderlidFreddie SharkeyShelagh JossGeert MortierBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiedénBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiédenBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiedénBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

Nonlinear optics on silicon: towards integrated long-wavelength light sources

Bart KuykenX LiuRM OsgoodRoel BaetsGünther RoelkensWMJ Green

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensKathleen ClaesJohn Van Borsel

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensKathleen ClaesJohn Van Borsel

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Off-chip beam steering using optical phased arrays on silicon-on-insulator

Karel Van AcoleyenKatarzyna KomorowskaWim BogaertsRoel Baets

Overall intelligibility, articulation, resonance, voice and language in a child with Nager syndrome

Kristiane Van LierdeAnke LuytenGeert MortierAnouk TijskensKim BettensHubert Vermeersch

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Post-bonding fabrication of photonic devices in an indium phosphide membrane bonded on glass

J PelloS SaboyaShahram KeyvaniniaJJGM van der TolGünther RoelkensHPMM AmbrosiusMeint Smit

Read-out a microring resonator based gas sensor with an on-chip spectrometer

Nebiyu Adello YeboWim BogaertsZ HensRoel Baets

SOI thickness uniformity improvement using wafer-scale corrective etching for silicon nano-photonic device

shankar kumar SelvarajaErik RosseelLuis FernandezMartin TabatWim BogaertsJohn HautalaPhilippe Absil

Speech in patients with neurofibromatosis type 1

Marjan CosynsJohn Van BorselGeert Mortier

Voice characteristics in adults with neurofibromatosis type 1

Marjan CosynsGeert MortierPaul CorthalsSandra JanssensJohn Van Borsel

A1 Journal Article in JOURNAL OF VOICE

2010

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

B ThienpontF BenaJ BreckpotN PhilipBjörn MentenH Van EschE ScalaisJM SalamoneCT FongJL Kussmann et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1

D MitterBARBARA DELLE CHIAIEHJ LudeckeG Gillessen-KaesbachA BohringJ KohlhaseA CaliebeR SiebertA RopkeMA Ramos-Arroyo et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Bernard ThienpontLitu ZhangAlex V PostmaJeroen BreckpotLeon-Charles TrancheventPeter Van LooKjedl MollgardNiels TommerupIben BacheZeynep Tumer et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign

L DesmyterM GhassibeN RevencuO BouteM LeesG FrançoisC Verellen-DumoulinY SznajerA MonclaH Benateau et al.

A2 Journal Article in MOLECULAR SYNDROMOLOGY

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

B D'haeneJan HellemansMargarita CraenJean De SchepperK DevriendtJP FrynsK KeymolenEveline DebalsA de KleinEM de Jong et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Intragenic deletion of the AUTS2 gene in patients with mental retardation, autistic behaviour and dysmorphic features : a new microdeletion syndrome

Erik SistermansEls VoorhoeveGea BeundersB van der ZwaagHY KroesSarah VergultGeert MortierBjörn MentenS GanaJJ Saris et al.

Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith-Wiedemann syndrome

Kristiane Van LierdeGeert MortierEline HuysmanHubert Vermeersch

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay

Sarah VergultGeert MortierFranki SpelemanBjörn Menten

Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay

Sarah VergultGeert MortierFranki SpelemanBjörn Menten

Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay

Sarah VergultGeert MortierFranki SpelemanBjörn Menten

Speech disorders in neurofibromatosis type 1: a sample survey

Marjan CosynsLies VandewegheGeert MortierSandra JanssensJohn Van Borsel

A1 Journal Article in INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS

Speech fluency in neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensNidhi SaharanElien StevensJohn Van Borsel

A1 Journal Article in JOURNAL OF FLUENCY DISORDERS

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Kristien HoornaertInge VereeckeChantal DewinterThomas RosenbergFrits A BeemerJuliaan LeroyLaila BendixErik BjörckMaryse BonduelleOdile Boute et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Temple-Baraitser syndrome: a rare and possibly unrecognized condition

Adeline JacquinetMarion GérardMichael T GabbettLéon RausinJean-Paul MissonBjörn MentenGeert MortierLionel Van MaldergemAlain VerloesFrançoois-Guillaume Debray

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Toepassing van microarray-analyse in de genetische diagnostiek

Björn MentenKaren BuysseGeert MortierAnne De PaepeFranki Speleman

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Word-final prolongations in an adult male with neurofibromatosis type 1

Marjan CosynsGeert MortierPaul CorthalsSandra JanssensJohn Van Borsel

A1 Journal Article in JOURNAL OF FLUENCY DISORDERS

Word-final prolongations in an adult male with neurofibromatosis type 1

Marjan CosynsGeert MortierPaul CorthalsSandra JanssensJohn Van Borsel

2009

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Karen BuysseBARBARA DELLE CHIAIERudy Van CosterBart LoeysAnne De PaepeGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der AaLiesbeth RoomsGeert VandeweyerJenneke van den EndeEdwin ReyniersMarco FicheraCorrado RomanoBARBARA DELLE CHIAIEGeert MortierBjörn Menten et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

BWM van BonHC MeffordBjörn MentenDA KoolenAJ SharpWM NillesenJW InnisTJL de RavelCL MercerM Fichera et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Genetisch onderzoek bij aandoeningen van de geslachtsontwikkeling: meer dan louter het bepalen van het karyotype

A2 Journal Article in Tijdschrift voor Geneeskunde

Hartsfield Holoprosencephaly-Ectrodactyly Syndrome in Five Male Patients: Further Delineation and Review

Catheline VilainGeert MortierGuy Van VlietChristèle DubourgClaudine HeinrichsDeepthi de SilvaAlain VerloesClarisse Baumann

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

Jan HellemansMarleen SimonAnnelies DheedeneYasemin AlanayErcan MihciLaila RifaiAbdelaziz SefianiYolande van BeverMorteza MeradjiAndrea Superti-Furga et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Identification of CANT1 Mutations in Desbuquois Dysplasia

C HuberB OulesM BertoliM ChamiM FradinY AlanayLI Al-GazaliMGEM AusemsP BitounDP Cavalcanti et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008)

Karen BuysseA CrepelBjörn MentenFilip PattynF AntonacciJA VeltmanLA LarsenZ TumerA de KleinI van de Laar et al.

Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course

Bertrand IsidorAntoine HamelFrank PlasschaertLieve ClausJacques-Marie MercierGeert MortierJuliaan LeroyAlain VerloesAlbert David

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular karyotyping: a powerful tool for the study of genomic defects in patients with mental retardation

Karen BuysseFranki SpelemanGeert Mortier

Myhre syndrome: in search of the causal gene

Sarah VergultMarleen SimonBARBARA DELLE CHIAIEAli RihaniFranki SpelemanGeert MortierBjörn Menten

Myhre syndrome: in search of the causal gene

Sarah VergultMarleen SimonBARBARA DELLE CHIAIEAli RihaniFranki SpelemanGeert MortierBjörn Menten

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Andy WillaertFransiska MalfaitSofie SymoensKris GevaertH. KayseriliA. MegarbaneGeert MortierJ. G. LeroyPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

Karen BuysseWilliam ReardonLakshmi MehtaTeresa CostaCarrie FagerstromDaniel J KingsburyGeorge AnadiotisBarbara C McGillivrayJan HellemansNicole de Leeuw et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans

Annelies DheedeneSteven DeleyeJan HellemansSteven StaelensStefaan VandenbergheGeert Mortier

A1 Journal Article in CALCIFIED TISSUE INTERNATIONAL

Unusual 8p inverted duplication deletion with telomere capture from 8q

Karen BuysseF AntonacciBert CallewaertBart LoeysUlrike FränkelVictoria SiuGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Whole body MR imaging in neurofibromatosis type 1

STEPHEN VAN MEERBEECKKoenraad VerstraeteSandra JanssensGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF RADIOLOGY

2008

Array CGH: een nieuwe revolutionaire techniek in de detectie van chromosomale defecten bij kinderen met mentale retardatie en aangeboren afwijkingen

Björn MentenKaren BuysseGeert MortierFranki Speleman

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene

Julia GassJan HellemansGeert MortierMeryl GriffithsNigel P Burrows

A1 Journal Article in JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Karen BuysseBjörn MentenAnn OostraSylvie TavernierGeert MortierFranki Speleman

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further evidence for a recessive form of SEMD resembling pseudoachondroplasia in a consanguineous family of Maghrebian origin

D AnromN Van RegemorterY SznajerG JacksonM BriggsGeert Mortier

A2 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Genotype and phenotype of Stickler syndrome caused by mutations in the COL2A1 gene

Kristien HoornaertChantal DewinterInge VereeckePaul CouckeGeert Mortier

A2 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

High prevalence of SDHB mutations in head and neck paraganglioma in Belgium

A PERSUM HAMOIRV GREGOIREP GARINE DUVIVIERH REYCHLERG CHANTRAINGeert MortierM MOURADD MAITER et al.

A1 Journal Article in JOURNAL OF HYPERTENSION

IHH and acrocapitofemoral dysplasia and brachydactyly A1

Jan HellemansGeert Mortier

Bookchapter in Inborn errors of development : the molecular basis of clinical disorders of morphogenesis

LEDMD3 and osteopoikilosis, the Buschke-Ollendorf syndrome and melorheostosis

Jan HellemansGeert Mortier

Bookchapter in Inborn errors of development : the molecular basis of clinical disorders of morphogenesis

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

Karen BuysseA CREPELBjörn MentenFilip PattynF ANTONACCIJ VELTMANL LARSENZ TüMERA DE KLEINI VAN DE LAAR et al.

A1 Journal Article in Journal of Medical Genetics

Mutations in the cyclin family member FAM58A cause a novel X-linked dominant disorder characterized by syndactyly, telecanthus, anogenital and renal malformations (STAR syndrome)

J kohlhaseGeert Mortier

A2 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

S UNGERD BOHMFJ KAISERS KAULFUSSW BOROZDINK BUITINGP BURFEINDJ BOHMF BARRIONUEVOA CRAIG et al.

A1 Journal Article in NATURE GENETICS

PRUNE BELLY ANOMALY ON PRENATAL ULTRASOUND AS A PRESENTING FEATURE OF ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME (EEC)

Sandra JanssensPaul DefoortC VandenbroeckeH SchefferGeert Mortier

A1 Journal Article in GENETIC COUNSELING

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

HC MEFFORDAJ SHARPC BAKERA ITSARAZS JIANGKaren BuysseSW HUANGVK MALONEYJA CROLLAD BARALLE et al.

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

The heterozygous Lemd3 knock-out mouse: a murine model for osteopoikilosis in humans?

Annelies DheedeneSteven DeleyeJan HellemansSteven StaelensStefaan VandenbergheGeert Mortier

2007

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

M MAJAVAKristien HoornaertD BARTHOLDIMC BOUMAK BOUMANM CARRERAK DEVRIENDTJ HURSTG KITSOSD NIEDRIST et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome

JG DAUWERSEBBA DE VRIESCH WOUTERSE BAKKERG RAPPOLDGeert MortierMH BREUNINGDJM PETERS

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

Juliaan LeroyLieve NuytinckJo LambertJean-Marie NaeyaertGeert Mortier

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Belang van het Guthriekaartje bij de laattijdige diagnose van een congenitale cytomegalovirusinfectie

Annelies KeymeulenJ VAN BIERVLIETVALERIE MEERSSCHAUTGeert Mortier

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement

K WALTERM TANSEKES TOBIASS IKEGAWAPaul CouckeJ HYLANDGeert MortierT IWAYAG NISHIMURAA SUPERTI-FURGA et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cranial suture biology and dental development: genetic and clinical perspectives

Peter De CosterGeert MortierLuc MarksLuc Martens

A1 Journal Article in JOURNAL OF ORAL PATHOLOGY & MEDICINE

Czech dysplasia metatarsal type: another type II collagen disorder

Kristien HoornaertIvo MarikKazimierz KozlowskiTrevor ColeMartine Le MerrerJuliaan LeroyPaul CouckeDavid SillenceGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

U MOOGF ROELENSGeert MortierH SIJSTERMANSM KELLYGF COXCD ROBSONVE KIMONIS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

F PASUTTOH STICHTG HAMMERSENG GILLESSEN-KAESBACHDR FITZPATRICKG NURNBERGF BRASCHH SCHIRMER-ZIMMERMANNJL TOLMIED CHITAYAT et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Björn MentenKaren BuysseF ZAHIRJan HellemansSJ HAMILTONT COSTAC FAGERSTROMG ANADIOTISD KINGSBURYBC MCGILLIVRAY et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome

Kristiane Van LierdeGeert MortierBart LoeysNele BaudonckSophia De LeyLuc MarksJohn Van Borsel

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

A ZANKLGC JACKSONLM CRETTOLJ TAYLORR ELLESGeert MortierJ SPRANGERB ZABELS UNGERM LE MERRER et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

RANBP17-TLX3: A hot spot region for both constitutional and acquired rearrangements

Karen BuysseBjörn MentenF ANTONACCIJA VELTMANLA LARSENZ TUMERGeert MortierFranki Speleman

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

Björn MentenKaren BuysseStefan VermeulenVALERIE MEERSSCHAUTJo VandesompeleBL NGNP CARTERGeert MortierFranki Speleman

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Short stature syndromes

Bookchapter in Growth disorders

Subtelomeric imbalances in phenotypically normal individuals

I BALIKOVABjörn MentenT DE RAVELC LE CAIGNECB THIENPONTM URBINAM DOCO-FENZYM DE RADEMAEKERGeert MortierF KOOY et al.

A1 Journal Article in HUMAN MUTATION

Syndactylie van de tweede en derde teen: een onschuldig familiaal trekje ?

A DE COENEPiet VanhaesebrouckGeert Mortier

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

The PDAC syndrome (Pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

D CHITAYATH SROKAS KEATINGRS COLBYG RYANA TOIS BLASERS VIEROL DEVISMEO BOUTE-BENEJEAN et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

Jan HellemansGeert MortierAnne De PaepeFranki SpelemanJo Vandesompele

A1 Journal Article in GENOME BIOLOGY

2006

Buschke-Ollendorff syndrome with LEMD3 mutation but no loss of heterozygosity in localised asymmetric skin plaque

PW PRESTONJan HellemansGeert MortierC MOSS

Buschke-Ollendorff syndrome: a manifestation of LEMD3 mutation

J GASSM GRIFFITHSJan HellemansGeert MortierN BURROWS

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

C THAUVIN-ROBINETM COSSEEV CORMIER-DAIREL VAN MALDERGEMA TOUTAINY ALEMBIKE BIETHV LAYETP PARENTA DAVID et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas: towards an extensive study of the somatic mutation spectrum in neurofibromatosis type 1

Ophélia MaertensHilde BremsJo VandesompeleThomas De RaedtIne HeynsThorsten RosenbaumSofie De SchepperAnne De PaepeGeert MortierSandra Janssens et al.

A1 Journal Article in Human Mutation

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Björn MentenN MAASB THIENPONTKaren BuysseJo VandesompeleC MELOTTET DE RAVELS VAN VOORENI BALIKOVAL BACKX et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS

Piet VanhaesebrouckKris De CoenPaul DefoortHubert VermeerschGeert MortierLinde GoossensKoenraad SmetsAleksandra ZecicSabine Van daeleFrans De Baets

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

Form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

GS SELLICKKristien HoornaertGeert MortierC KINGCL DOLLINGRA NEWBURY-ECOBM GARGANCM HALLRS HOULSTONSF SMITHSON

A1 Journal Article in CLINICAL DYSMORPHOLOGY

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (vol 140A, pg 1726, 2006)

SP ROBERTSONZA JENKINST MORGANL ADESS AFTIMOSO BOUTET FISKERSTRANDS GARCIA-MINAURA GRIXA GREEN et al.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

Jan HellemansPhilippe DebeerMichael WrightAndreas JaneckeKlaus W KjaerPeter VerdonkRavi SavarirayanLina BaselCelia MossJohannes Roth et al.

A2 Journal Article in HUMAN MUTATION

Intestinal Atresia in a Newborn with Cutis Marmorata Telangiectatica Congenita

Aleksandra ZecicMyriam Van WinckelGeert MortierKoenraad SmetsPiet Vanhaesebrouck

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Kristien HoornaertChantal DewinterInge VereeckeFA BEEMERW COURTENSA FRYERH FRYSSIRAM LEESA MULLNER-EIDENBOCKDL RIMOIN et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2005

Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

Rita CauwelsPeter De CosterGeert MortierLuc MarksLuc Martens

A1 Journal Article in JOURNAL OF ORAL PATHOLOGY & MEDICINE

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

A ZANKLL NEUMANNJ IGNATIUSP NIKKELSC SCHRANDER-STUMPELGeert MortierH OMRANM WRIGHTK HILBERTL BONAFE et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS

Piet VanhaesebrouckKris De CoenPaul DefoortHubert VermeerschGeert MortierClaudine De PraeterLinde GoossensKoenraad SmetsAleksandra ZecicSabine Van daele et al.

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Björn MentenKaren BuysseJo VandesompeleEls De SmetAnne De PaepeFranki SpelemanGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

The diagnosis of a skeletal dysplasia: only for the eyes of a radiologist or in the hands of a clinical geneticist?

Unexpected severe respiratory insufficiency in a newborn with Holt-Oram syndrome

Koenraad SmetsGeert MortierAleksandra Zecic

A2 Journal Article in Journal of perinatology

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Björn MentenFilip PattynKatleen De PreterPiet RobbrechtEvi MichelsKaren BuysseGeert MortierAnne De PaepeSteven van VoorenJoris Vermeesch et al.

A1 Journal Article in BMC BIOINFORMATICS

2004

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

O MAKITIEGeert MortierM CZARNY-RATAJCZAKMJ WRIGHTM SURIP ROGALAM FREUNDGC JACKSONE JAKKULAL ALA-KOKKO et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hydrocephaly and cobblestone lissencephaly in a preterm neonate

Claudine De PraeterKris De CoenPiet VanhaesebrouckGeert MortierCaroline Van den broeckeRudy Van Coster

Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome

FLEUR DE METSENAEREGeert MortierMarc Dhont

A1 Journal Article in AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Jan HellemansO PREOBRAZHENSKAAndy WillaertP DEBEERPETER VERDONKT COSTAK JANSSENSBjörn MentenNadine Van RoyStefan Vermeulen et al.

A1 Journal Article in NATURE GENETICS

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders

A VOGELSJ VAN DEN ENDEK KEYMOLENGeert MortierK DEVRIENDTE LEGIUSJP FRYNS

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

GC JACKSONFS BARKERE JAKKULAM CZARNY-RATAJCZAKO MAKITIEWG COLEMJ WRIGHTSF SMITHSONM SURIP ROGALA et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints

Stefan VermeulenBjörn MentenNadine Van RoyHeidi Van LimbergenAnne De PaepeGeert MortierFranki Speleman

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

CF BARTELSH BUKULMEZP PADAYATTIDK RHEEC VAN RAVENSWAAIJ-ARTSRM PAULIS MUNDLOSD CHITAYATLY SHIHLI AL-GAZALI et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

B KERENA HADCHOUELS SABAY SZNAJERD BONNEAUB LEHEUPO BOUTED GAILLARDD LACOMBEV LAYET et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

L FAIVREM LE MERRERS DOUVIERN LAURENTC THAUVIN-ROBINETT ROUSSEAUI VEREECKEP SAGOTAL DELEZOIDEPaul Coucke et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Stickler syndrome type I and stapes ankylosis

LWJ BAIJENSEMR DE LEENHEERHH WEEKAMPJRM CRUYSBERGGeert MortierCWRJ CREMERS

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

L SUSANIA PANGRAZIOC SOBACCHIA TARANTAGeert MortierR SAVARIRAYANA VILLAP ORCHARDP VEZZONIA ALBERTINI et al.

A1 Journal Article in HUMAN MUTATION

2003

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Geert MortierPPG KRAMERA GIEDIONFA BEEMER

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case

J KOHLHASEM LIEBERSJ BACKEA BAUMANN-MULLERM BEMBEAA DESTREEM GATTASS GRUSSNERT MULLERGeert Mortier et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips

Jan HellemansPaul CouckeA GIEDIONAnne De PaepeP KRAMERF BEEMERGeert Mortier

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mesomelic dysplasia with specific autopodal synostoses: A third observation and further delineation of the multiple congenital anomaly syndrome

JG LEROYL CLAUSB LEEGeert Mortier

A1 Journal Article in PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE

Review: Clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia

KL CHAPMANMD BRIGGSGeert Mortier

A1 Journal Article in PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE

2002

Aangeboren afwijkingen van het spraakorgaan

Bart LoeysGeert Mortier

Bookchapter in Handboek stem-, spraak- en taalpathologie

CHIRURGISCHE AANPAK EN GENETISCHE DIAGNOSE BIJ EEN KIND MET SYNDROOM VAN MUENKE.

F VAN CALENBERGHJ SCHOENAERSF SCHUTYSERP CASAERGeert MortierJP FRYNS

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

Bart LoeysL VAN MALDERGEMGeert MortierPaul CouckeS GERNIERSJean NaeyaertAnne De Paepe

A1 Journal Article in HUMAN MOLECULAR GENETICS

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

MI REESTM LEWISJ KWOKGeert MortierP GOVAERTRG SNELLPR SCHOFIELDMJ OWEN

A1 Journal Article in HUMAN MOLECULAR GENETICS

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

R PARVARIE HERSHKOVITZN GROSSMANR GORODISCHERBart LoeysA ZECICGeert MortierS GREGORYR SHARONYM KAMBOURIS et al.

A1 Journal Article in NATURE GENETICS

2001

A newborn with microphtalmia and pulmonary hypoplasia: Matthew-Wood syndrome confirmed?

Bart LoeysPiet VanhaesebrouckLieve NuytinckGeert Mortier

Carrier screening for cystic fibrosis in a prenatal setting.

Isabelle DelvauxAriane Van TongerlooLudwine MessiaenC VAN LOONSylvia De BieGeert MortierAnne De Paepe

A1 Journal Article in GENETIC TESTING

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.

Geert MortierK CHAPMANJuliaan LeroyMD BRIGGS

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.

BM ANDERLIDS SAHLENJ SCHOUMANSE HOLMBERGI AHSGRENGeert MortierFranki SpelemanE BLENNOW

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Hearing loss as a presenting symptom of cleidocranial dysplasia.

Ingeborg DhoogeB LANTSOGHTMarc LemmerlingB VANZIELEGHEMGeert Mortier

A1 Journal Article in OTOLOGY & NEUROTOLOGY

Imaging studies in the diagnostic workup of neonatal nasal obstruction.

Bart VanzieleghemMarc LemmerlingHubert VermeerschP GOVAERTIngeborg DhoogeFrançoise MeireGeert MortierJuliaan LeroyMarc Kunnen

A1 Journal Article in JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Kathryn L ChapmanGeert MortierKay ChapmanJohn LoughlinMichael E GrantMichael D Briggs

A1 Journal Article in NATURE GENETICS

Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation

Elfride De BaereM DIXONK SMALLE JABSBart LeroyK DEVRIENDTY GILLEROTGeert MortierFrançoise MeireL VAN MALDERGEM et al.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Elfride De BaereMichael J DixonKent W SmallEthylin W JabsBart LeroyKoenraad DevriendtYves GillerotGeert MortierFrançoise MeireLioinel Van Maldergem et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

The diagnosis of skeletal dysplasias: a multidisciplinary approach

A1 Journal Article in EUROPEAN JOURNAL OF RADIOLOGY

2000

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Geert MortierLieve NuytinckMargarita CraenJean-Pierre RenardJuliaan LeroyAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Exclusion of chromosome 9 helps identifying mild variants of acromesomelic dysplasia Maroteaux type.

L FAIVREM LE MERRERA MEGARBANEB GILBERTGeert MortierV CUSINA MUNNICHP MAROTEAUXV CORMIER-DAIRE

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Ludwine MessiaenT CALLENSGeert MortierDIANE BEYSENIna VandenbrouckeNadine Van RoyFranki SpelemanAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Familiale borst- en/of ovariumkanker: diagnostisch en predictief genetisch onderzoek

Isabelle DelvauxM De VosBruce PoppeGeert MortierAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.

A VERLOESS LESENFANTSM BARRDK GRANGEH JOURNELJ LOMBETGeert MortierE ROEDER

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Genetische diagnostiek: meer dan een laboratoriumtest.

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

F HESR ZEWALDT PEETERSR SIJMONST LINKSJ VERHEIJG MATTHIJSE LEGIUSGeert MortierK VAN DER TORREN et al.

A1 Journal Article in HUMAN GENETICS

Lip en/of gehemeltespleet: componenten in een vloeidiagram van multidisciplinaire aanpak

M Van VlierbergheM MoermanGeert MortierC De ClercqS MonstreyJuliaan Leroy

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Geert MortierMary Ann WeisLieve NuytinckLily M KingDouglas J WilkinAnne De PaepeRalph S LachmanDavid L RimoinDavid R EyreDaniel H Cohn

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000)

Geert MortierMary Ann WeisLieve NuytinckLily M KingDouglas J WilkinAnne De PaepeRS LachmanDavid L RimoinDavid R EyreDaniel H Cohn

The mutation spectrum in Holt-Oram syndrome.

SJ CROSSYH CHINGQY LIL ARMSTRONG-BUISSERETS SPRANGERS LYONNETD BONNETM PENTTINENP JONVEAUXB LEHEUP et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes.

W COURTENSC DELAETF ZIEREISENE VAMOSGeert Mortier

A1 Journal Article in ANNALES DE GENETIQUE

1999

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

Ludwine MessiaenT CALLENSKJ ROUXGeert MortierAnne De PaepeM ABRAMOWICZMA PERICAK-VANCEJM VANCEMR WALLACE

A1 Journal Article in GENETICS IN MEDICINE

Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach

M De VosBruce PoppeIsabelle DelvauxGeert MortierKathleen ClaesLudwine MessiaenAnne De Paepe

A1 Journal Article in DISEASE MARKERS

Hypochondroplasie: diagnose en behandeling

Geert MortierMargarita Craen

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Identification of novel pro-alpha 2(IX) collagen gene mutations in two families with distinctive olgo-epiphyseal forms of multiple epiphyseal dysplasia.

P HOLDENEG CANTYGeert MortierB ZABELJ SPRANGERA CARRME GRANTJA LOUGHLIN

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish patients with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

Kathleen ClaesEva MachackovaMichel De VosGeert MortierAnne De PaepeLudwine Messiaen

A2 Journal Article in HUMAN MUTATION

1998

CT of the temporal bone in the CHARGE association.

Marc LemmerlingIngeborg DhoogeP MOLLETGeert MortierPaul Van CauwenbergeMarc Kunnen

A1 Journal Article in NEURORADIOLOGY

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Geert MortierLudwine MessiaenMarc EspeelKJ SMETSBart VanzieleghemFrank RoelsAnne De Paepe

A1 Journal Article in PEDIATRIC RADIOLOGY

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

DJ WILKINGeert MortierCL JOHNSONMC JONESAnne De PaepeM SHOHATRS WILDINRE FALKDH COHN

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum

Michael D BriggsGeert MortierWillam G ColeLily M KingSteven S GolikJacky BonaventureLieve NuytinckAnne De PaepeJuliaan LeroyLeslie Biesecker et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Genetic counselling

A4 Journal Article in BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE

Molecular diagnostic evaluation of NF1 patients using the combined approach of karyotyping, fluorescent in situ hybridisation, the protein truncation assay and heteroduplex analysis

Ludwine MessiaenGeert MortierT CallensNadine Van RoyFranki SpelemanAnne De Paepe

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

W WUYTSW VAN HULK DE BOULLEJ HENDRICKXE BAKKERF VANHOENACKERF MOLLICAHJ LUDECKEBS SAYLIUE PAZZAGLIA et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Otological manifestations of charge association.

Ingeborg DhoogeL STANDAERTMarc LemmerlingP GOVAERTMuriël LagacheGeert Mortier

A1 Journal Article in ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.

A DE VOSK SERMONH VAN DE VELDEH JORISM VANDERVORSTW LISSENSGeert MortierPetra De SutterA LOFGRENC VAN BROECKHOVEN et al.

A1 Journal Article in MOLECULAR HUMAN REPRODUCTION

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

JM GRAHAMSR BRADDOCKGeert MortierR LACHMANC VAN DOPEW JABS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

The annual incidence of DiGeorge/velocardiofacial syndrome.

K DEVRIENDTJP FRYNSGeert Mortier

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

1997

Achondrogenesis type Ia with an occipital encephalocele.

A1 Journal Article in GENETIC COUNSELING

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

Ludwine MessiaenT CALLENSA DEPAEPEMargarita CraenGeert Mortier

A1 Journal Article in HUMAN GENETICS

The scapula as a window to the diagnosis of skeletal dysplasias.

Geert MortierGL RIMOINRS LACHMAN

A1 Journal Article in PEDIATRIC RADIOLOGY

1996

Multiple vertebral segmentation defects: analysis of 26 new cases and review of the literature

Geert MortierRalph L LachmanMaureen BocianDavid L Rimoin

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

1995

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691->Arg) in the type II collagen trimer

Geert MortierDouglas J WilkinWilliam R WilcoxDavid L RimoinRalph S LachmanDavid R EyreDaniel H Cohn

A1 Journal Article in HUMAN MOLECULAR GENETICS

Beckwith-Wiedemann syndrome : an update and review for the primary pediatrician

E WengGeert MortierJ Graham

A1 Journal Article in CLINICAL PEDIATRICS

PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE.

MD BRIGGSSMG HOFFMANLM KINGAS OLSENH MOHRENWEISERJuliaan LeroyGeert MortierDL RIMOINRS LACHMANES GAINES et al.

A1 Journal Article in NATURE GENETICS

1993

The Lujan syndrome or mental retardation with marfanoid habitus: the challenge of adequate nosological definition

Juliaan LeroyGeert MortierCA De BrandtKA LoggheAnne De Paepe

Otological manifestations of CHARGE association. Ann. Otol. Rhinol. Laryngol., 95, 1998,480-486.

I DHOOGEL STANDAERTMarc LemmerlingP GOVAERTM LAGACHEGeert Mortier