Jules G Leroy
Affiliation: Ghent University
- A new type of autosomal recessive spondyloepiphyseal dysplasia tardaJ 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...
- Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtypeJules G Leroy
Departments of Pediatrics, Neonatology and Pathology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
Acta Neuropathol 114:387-99. 2007....
- Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 geneJules G Leroy
Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
Am J Med Genet A 143:3144-9. 2007....
- Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defectsJules 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...
- Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosomeStefan J Vermeulen
Center for Medical Genetics, 0K5, Ghent University Hospital, Ghent, Belgium
Eur J Hum Genet 13:52-8. 2005....
- Czech dysplasia metatarsal type: another type II collagen disorderKristien 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...
- Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defectsBoel 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...
- RMRP mutations in cartilage-hair hypoplasiaPia 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...
- Mutations in different components of FGF signaling in LADD syndromeEdyta 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...
- Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasiaRobert 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...
- Abnormal glycosylation with hypersialylated O-glycans in patients with SialuriaSuzan 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...