Jules G Leroy

Summary

Affiliation: Ghent University
Country: Belgium

Publications

  1. ncbi request reprint A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
    J G Leroy
    Department of Medical Genetics and Pediatrics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 125:49-56. 2004
  2. ncbi request reprint Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype
    Jules G Leroy
    Departments of Pediatrics, Neonatology and Pathology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
    Acta Neuropathol 114:387-99. 2007
  3. ncbi request reprint Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
    Jules G Leroy
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 143:3144-9. 2007
  4. ncbi request reprint Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects
    Jules G Leroy
    Department of Pediatrics, Ghent University School of Medicine and University, B 9000 Ghent, Belgium
    Pediatr Res 60:643-56. 2006
  5. ncbi request reprint Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
    Stefan J Vermeulen
    Center for Medical Genetics, 0K5, Ghent University Hospital, Ghent, Belgium
    Eur J Hum Genet 13:52-8. 2005
  6. ncbi request reprint Czech dysplasia metatarsal type: another type II collagen disorder
    Kristien P Hoornaert
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Eur J Hum Genet 15:1269-75. 2007
  7. ncbi request reprint Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects
    Boel De Paepe
    Department of Pediatrics, Ghent University Hospital, Belgium
    Pediatr Res 59:2-6. 2006
  8. ncbi request reprint RMRP mutations in cartilage-hair hypoplasia
    Pia Hermanns
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 140:2121-30. 2006
  9. ncbi request reprint Mutations in different components of FGF signaling in LADD syndrome
    Edyta Rohmann
    Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany
    Nat Genet 38:414-7. 2006
  10. ncbi request reprint Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 135:328-32. 2005

Collaborators

  • Piet Vanhaesebrouck
  • J W Spranger
  • Paul J Coucke
  • Bjorn Menten
  • Stefan J Vermeulen
  • Han G Brunner
  • BRENDAN HL LEE
  • B P Leroy
  • P M Rudd
  • E Morava
  • Frank Speleman
  • Bernd Wollnik
  • Robert A Saul
  • Kristien P Hoornaert
  • Edyta Rohmann
  • Pia Hermanns
  • Boel De Paepe
  • Suzan Wopereis
  • Geert R Mortier
  • Ivo Marik
  • Trevor Cole
  • Kazimierz Kozlowski
  • David Sillence
  • Martine Le Merrer
  • Ron A Wevers
  • Bridget Wilcken
  • Ann Meulemans
  • Bernhard Zabel
  • Dirk Matthys
  • Umi M Abd Hamid
  • Oya Uyguner
  • Abdullah Uzumcu
  • Hulya Kayserili
  • Rudy Van Coster
  • Edith George
  • Melike Ulubil-Emeroglu
  • Erin D Lew
  • Lionel Van Maldergem
  • Elda Munivez
  • Emmanuel Scalais
  • ChriĆ¼tian Kubisch
  • Yun Li
  • Willy Lissens
  • Peter Nurnberg
  • Sara Seneca
  • Cor W R J Cremers
  • Linda De Meirleir
  • Karin M L C Huijben
  • Gudrun Nurnberg
  • Dirk J Lefeber
  • Joel Smet
  • Raymond A Dwek
  • Susan Carter
  • Alyssa Tran
  • Angus Dobbie
  • Joseph Schlessinger
  • Christian Kubisch
  • Aart J Lagerwerf
  • Christian Becker
  • Veraragavan P Eswarakumar
  • Louise Royle
  • Hans van Bokhoven
  • Alison Critchley
  • Memnune Yuksel-Apak
  • Kai Lehnerdt

Detail Information

Publications11

  1. ncbi request reprint A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
    J G Leroy
    Department of Medical Genetics and Pediatrics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 125:49-56. 2004
    ..Final genotypic characterization must await the results of genetic linkage studies and of appropriate molecular genetics investigations...
  2. ncbi request reprint Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype
    Jules G Leroy
    Departments of Pediatrics, Neonatology and Pathology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
    Acta Neuropathol 114:387-99. 2007
    ....
  3. ncbi request reprint Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
    Jules G Leroy
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 143:3144-9. 2007
    ....
  4. ncbi request reprint Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects
    Jules G Leroy
    Department of Pediatrics, Ghent University School of Medicine and University, B 9000 Ghent, Belgium
    Pediatr Res 60:643-56. 2006
    ..Only CDG-Ib is amenable to treatment with free mannose supplementation. Hence, early specific diagnosis of any one entity is crucial for genetic counseling and elective preventive measures...
  5. ncbi request reprint Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
    Stefan J Vermeulen
    Center for Medical Genetics, 0K5, Ghent University Hospital, Ghent, Belgium
    Eur J Hum Genet 13:52-8. 2005
    ....
  6. ncbi request reprint Czech dysplasia metatarsal type: another type II collagen disorder
    Kristien P Hoornaert
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Eur J Hum Genet 15:1269-75. 2007
    ..The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recently delineated as Czech dysplasia...
  7. ncbi request reprint Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects
    Boel De Paepe
    Department of Pediatrics, Ghent University Hospital, Belgium
    Pediatr Res 59:2-6. 2006
    ..The method described offers a convenient and rapid approach to first-line screening of OXPHOS defects. In association with routine assays of enzyme activity, the technique is helpful in orienting molecular investigation further...
  8. ncbi request reprint RMRP mutations in cartilage-hair hypoplasia
    Pia Hermanns
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 140:2121-30. 2006
    ..In this ethnically heterogeneous population, we performed a retrospective study to compare the prevalence of clinical features compared to previous reports based mostly on more ethnically homogenous groups...
  9. ncbi request reprint Mutations in different components of FGF signaling in LADD syndrome
    Edyta Rohmann
    Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany
    Nat Genet 38:414-7. 2006
    ..These findings increase the spectrum of anomalies associated with abnormal FGF signaling...
  10. ncbi request reprint Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 135:328-32. 2005
    ..Having redefined the diagnosis in one of the original cases of Pacman dysplasia, we suggest that what is called Pacman dysplasia could very well be Mucolipidosis type II (ML-II) in other published reports...
  11. ncbi request reprint Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria
    Suzan Wopereis
    Radboud University Nijmigen Medical Center, Laboratory of Pediatrics and Neurology, The Netherlands, and The Children s Hospital at Westmead, NSW Sydney, Australia
    Biochim Biophys Acta 1762:598-607. 2006
    ..N-glycosylation of serum proteins seems largely unaffected. Sialuria is the first metabolic disorder presenting with hypersialylated O-glycans...