Geert Mortier

Geert Mortier

UNVERIFIED PROFILE

Are you Geert Mortier?   Register this Author

Register author
Geert Mortier

Geert Mortier

Publications by authors named "Geert Mortier"

Are you Geert Mortier?   Register this Author

99Publications

4373Reads

46Profile Views

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Am J Med Genet A 2020 Feb 22;182(2):338-347. Epub 2019 Nov 22.

Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61414DOI Listing
February 2020

Nosology and classification of genetic skeletal disorders: 2019 revision.

Am J Med Genet A 2019 Dec 21;179(12):2393-2419. Epub 2019 Oct 21.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61366DOI Listing
December 2019

WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts.

Calcif Tissue Int 2019 Nov 23. Epub 2019 Nov 23.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00223-019-00633-xDOI Listing
November 2019

Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism.

J Allergy Clin Immunol Pract 2018 Jan - Feb;6(1):277-279.e1. Epub 2017 Sep 6.

Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2017.07.002DOI Listing
October 2019

The third family with Eiken syndrome.

Clin Genet 2019 Oct 11;96(4):378-379. Epub 2019 Jul 11.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13601DOI Listing
October 2019

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

Am J Med Genet A 2019 Sep 27;179(9):1709-1717. Epub 2019 Jun 27.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61267DOI Listing
September 2019

Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.

Calcif Tissue Int 2019 Jun 6;104(6):613-621. Epub 2019 Feb 6.

Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Prins Boudewijnlaan 43, Edegem, 2650, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00223-019-00530-3DOI Listing
June 2019

Camurati-Engelmann Disease.

Calcif Tissue Int 2019 May 5;104(5):554-560. Epub 2019 Feb 5.

Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00223-019-00532-1DOI Listing
May 2019

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.

Bone 2019 04 23;121:191-195. Epub 2019 Jan 23.

Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.01.022DOI Listing
April 2019

Memory CD4 T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus.

Genes Immun 2019 03 15;20(3):255-260. Epub 2018 Jun 15.

AUDACIS, Antwerp Unit for Data Analysis and Computation in Immunology and Sequencing, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41435-018-0035-yDOI Listing
March 2019

Transcriptome profiling in blood before and after hepatitis B vaccination shows significant differences in gene expression between responders and non-responders.

Vaccine 2018 10 8;36(42):6282-6289. Epub 2018 Sep 8.

Department of Medical Genetics, University of Antwerp/Antwerp University Hospital, Edegem, Belgium; AUDACIS, Antwerp Unit for Data Analysis and Computation in Immunology and Sequencing, University of Antwerp, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0264410X183123
Publisher Site
http://dx.doi.org/10.1016/j.vaccine.2018.09.001DOI Listing
October 2018

Human Genetics of Sclerosing Bone Disorders.

Curr Osteoporos Rep 2018 06;16(3):256-268

Centre of Medical Genetics, University of Antwerp & University Hospital Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11914-018-0439-7DOI Listing
June 2018

Marked Hypoplasia of the Distal Phalanges in Ellis-Van Creveld Syndrome.

J Belg Soc Radiol 2018 Apr 20;102(1):42. Epub 2018 Apr 20.

AZ Sint-Maarten and University (Hospital) Antwerp/Ghent, BE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5334/jbsr.1552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032670PMC
April 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Clin Genet 2017 09 30;92(3):342-343. Epub 2017 Mar 30.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.12990DOI Listing
September 2017

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

J Mol Diagn 2017 05 22;19(3):445-459. Epub 2017 Mar 22.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2017.01.010DOI Listing
May 2017

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Gene 2017 Mar 16;605:92-98. Epub 2016 Dec 16.

Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2016.12.013DOI Listing
March 2017

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2016 12 6;171(8):1049-1056. Epub 2016 Jul 6.

Department of Bioinformatics, Erasmus MC, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32473DOI Listing
December 2016

Hyperkalemia in young children: blood pressure checked?

Eur J Pediatr 2016 Dec 17;175(12):2011-2013. Epub 2016 Sep 17.

Queen Mathilde Mother and Child Care Centre, University Hospital Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-016-2782-yDOI Listing
December 2016

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Sep 27;160(3):442-7. Epub 2016 Apr 27.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5507/bp.2016.022DOI Listing
September 2016

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

J Med Genet 2016 08 7;53(8):568-74. Epub 2016 Apr 7.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-103756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769692PMC
August 2016

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

J Bone Miner Res 2016 Apr 24;31(4):874-81. Epub 2016 Jan 24.

Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2782DOI Listing
April 2016

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Hum Mutat 2015 Aug 13;36(8):808-14. Epub 2015 Jun 13.

Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22802DOI Listing
August 2015

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet 2015 Jun 10;24(11):3038-49. Epub 2015 Feb 10.

Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424950PMC
June 2015

Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.

J Mol Endocrinol 2015 Apr 22;54(2):137-47. Epub 2015 Jan 22.

Department of OncologyUniversity of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, BelgiumSection of EndocrinologyDepartment of Internal Medicine, Erasmus Medical Center, Dr. Molenwaterplein 50, 3015GE Rotterdam, The NetherlandsCenter of Medical GeneticsDepartment of PathologyUniversity of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium Department of OncologyUniversity of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, BelgiumSection of EndocrinologyDepartment of Internal Medicine, Erasmus Medical Center, Dr. Molenwaterplein 50, 3015GE Rotterdam, The NetherlandsCenter of Medical GeneticsDepartment of PathologyUniversity of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/JME-14-0304DOI Listing
April 2015

Regulation of body and brain size: role of MAP4 and other centrosomal proteins.

Authors:
Geert R Mortier

Hum Mutat 2015 Jan;36(1)

Antwerp University Hospital, University of Antwerp and Ghent University, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22639DOI Listing
January 2015

Familial hypertryptasemia with associated mast cell activation syndrome.

J Allergy Clin Immunol 2014 Dec 30;134(6):1448-1450.e3. Epub 2014 Jul 30.

Department of Immunology, Allergology, and Rheumatology, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2014.06.007DOI Listing
December 2014

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

Mol Genet Metab 2014 Nov 8;113(3):230-5. Epub 2014 Sep 8.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192140027
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2014.09.001DOI Listing
November 2014

Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.

Curr Osteoporos Rep 2014 Sep;12(3):243-51

Department of Medical Genetics, University and University Hospital of Antwerp, Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11914-014-0220-5DOI Listing
September 2014

Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.

Semin Arthritis Rheum 2014 Aug 5;44(1):101-4. Epub 2014 Mar 5.

Division of Paediatric Immunology and Rheumatology, Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semarthrit.2014.03.003DOI Listing
August 2014

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Am J Med Genet A 2014 Apr 29;164A(4):898-906. Epub 2014 Jan 29.

Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36367
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36367DOI Listing
April 2014

XYLT1 mutations in Desbuquois dysplasia type 2.

Am J Hum Genet 2014 Mar 27;94(3):405-14. Epub 2014 Feb 27.

Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951945PMC
March 2014

Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.

Calcif Tissue Int 2014 Feb 24;94(2):240-7. Epub 2013 Oct 24.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00223-013-9804-9DOI Listing
February 2014

A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.

Am J Med Genet A 2013 Oct 16;161A(10):2645-51. Epub 2013 Aug 16.

Service de Génétique Médicale, CHU de Nantes, Nantes, France; INSERM, UMR-S 957, Nantes, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36132DOI Listing
October 2013

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders.

Bone 2013 Jul 3;55(1):52-6. Epub 2013 Apr 3.

Department of Medical Genetics, University and University Hospital of Antwerp, Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2013.03.015DOI Listing
July 2013

A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.

J Pediatr Genet 2013 Jun;2(2):91-6

Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/PGE-13053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020964PMC
June 2013

Bone lessons from Marfan syndrome and related disorders: fibrillin, TGF-B and BMP at the balance of too long and too short.

Pediatr Endocrinol Rev 2013 Jun;10 Suppl 2:417-23

Center for Medical Genetics, University of Antwerp, Antwerp, BE.

View Article

Download full-text PDF

Source
June 2013

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis.

Bone 2013 Jan 6;52(1):292-5. Epub 2012 Oct 6.

Department of Medical Genetics, University and University Hospital of Antwerp, Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2012.09.034DOI Listing
January 2013

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.

Eur J Paediatr Neurol 2012 Nov 6;16(6):730-5. Epub 2012 Mar 6.

Department of Neurology and Child Neurology, Hospital Sint-Jan, Ruddershove 10, 8000 Bruges, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2012.02.003DOI Listing
November 2012

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

Am J Med Genet A 2012 Aug 11;158A(8):1948-52. Epub 2012 Apr 11.

Medical Genetics Department, Hôpital Erasme-ULB, Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35301DOI Listing
August 2012

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Autism Res 2012 Aug 11;5(4):277-81. Epub 2012 Jun 11.

Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/aur.1240DOI Listing
August 2012

Articulation in schoolchildren and adults with neurofibromatosis type 1.

J Commun Disord 2012 Mar-Apr;45(2):111-20. Epub 2011 Dec 1.

Department of Otorhinolaryngology and Logopaedic-Audiologic Sciences, Ghent University, Ghent University Hospital 2P1, De Pintelaan 185, 9000 Gent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcomdis.2011.11.002DOI Listing
June 2012

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

J Voice 2012 Mar 7;26(2):e57-62. Epub 2011 May 7.

Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University Hospital, De Pintelaan 185, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvoice.2010.11.001DOI Listing
March 2012

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1.

Am J Med Genet A 2011 Dec 3;155A(12):2974-81. Epub 2011 Nov 3.

Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34314DOI Listing
December 2011

Voice characteristics in adults with neurofibromatosis type 1.

J Voice 2011 Nov 16;25(6):759-64. Epub 2010 Oct 16.

Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvoice.2010.07.007DOI Listing
November 2011

Tetrasomy and pentasomy of the X chromosome.

Eur J Pediatr 2011 Oct 18;170(10):1325-7. Epub 2011 May 18.

Stedelijk Ziekenhuis, Brugsesteenweg 90, 8800 Roeselare, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-011-1491-9DOI Listing
October 2011

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Am J Med Genet A 2011 Aug 7;155A(8):1857-64. Epub 2011 Jul 7.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34072DOI Listing
August 2011

Nosology and classification of genetic skeletal disorders: 2010 revision.

Am J Med Genet A 2011 May 15;155A(5):943-68. Epub 2011 Mar 15.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781PMC
May 2011

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

Int J Pediatr Otorhinolaryngol 2011 Feb 8;75(2):270-6. Epub 2010 Dec 8.

Department of Otorhinolaryngology and Speech Language Pathology, University Gent, Belgium.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S016558761000540
Publisher Site
http://dx.doi.org/10.1016/j.ijporl.2010.11.017DOI Listing
February 2011

Temple-Baraitser syndrome: a rare and possibly unrecognized condition.

Am J Med Genet A 2010 Sep;152A(9):2322-6

Center for Human Genetics, CHU & University of Liège, Liège, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33574DOI Listing
September 2010

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

J Fluency Disord 2010 Sep 24;35(3):235-45. Epub 2010 May 24.

Department of Otorhinolaryngology & Logopaedic and Audiologic Sciences, Ghent University, De Pintelaan 185 2P1, Gent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jfludis.2010.05.001DOI Listing
September 2010