Jules G Leroy

Jules G Leroy

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Jules G Leroy

Jules G Leroy

Publications by authors named "Jules G Leroy"

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A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Eur J Hum Genet 2014 May 18;22(5):594-601. Epub 2013 Sep 18.

Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA.

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http://dx.doi.org/10.1038/ejhg.2013.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992569PMC
May 2014

Long-term observation of a patient with dominant omodysplasia.

Am J Med Genet A 2014 May 23;164A(5):1234-8. Epub 2014 Jan 23.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.36408DOI Listing
May 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:

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

Czech dysplasia metatarsal type: another type II collagen disorder.

Eur J Hum Genet 2007 Dec 29;15(12):1269-75. Epub 2007 Aug 29.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201913DOI Listing
December 2007

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

Am J Med Genet A 2007 Dec;143A(24):3144-9

Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.31966DOI Listing
December 2007

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype.

Acta Neuropathol 2007 Oct 13;114(4):387-99. Epub 2007 Jul 13.

Departments of Pediatrics, Neonatology and Pathology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1007/s00401-007-0248-zDOI Listing
October 2007

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

Authors:
Jules G Leroy

Pediatr Res 2006 Dec 25;60(6):643-56. Epub 2006 Oct 25.

Department of Pediatrics, Ghent University School of Medicine and University, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1203/01.pdr.0000246802.57692.eaDOI Listing
December 2006

RMRP mutations in cartilage-hair hypoplasia.

Am J Med Genet A 2006 Oct;140(19):2121-30

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.31331DOI Listing
October 2006

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.

Biochim Biophys Acta 2006 Jun;1762(6):598-607

Radboud University Nijmigen Medical Center, Laboratory of Pediatrics and Neurology, The Netherlands, and The Children's Hospital at Westmead, NSW Sydney, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S092544390600053
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http://dx.doi.org/10.1016/j.bbadis.2006.03.009DOI Listing
June 2006

Nonsyndromic microcephaly: an overview.

Adv Pediatr 2005 ;52:261-93

Departments of Pediatrics and Genetics, University of Ghent, Ghent, Belgium.

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September 2005

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.

Am J Med Genet A 2005 Jun;135(3):328-32

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1002/ajmg.a.30716DOI Listing
June 2005

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.

Clin Chem 2004 Jan 18;50(1):58-66. Epub 2003 Nov 18.

University Medical Center Nijmegen, Laboratory of Pediatrics and Neurology, NL-6500 HB Nijmegen, The Netherlands.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2003.020214
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http://dx.doi.org/10.1373/clinchem.2003.020214DOI Listing
January 2004

Unfortunate oversight.

Authors:
Jules G Leroy

Am J Med Genet A 2003 Sep;122A(1):92-3

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http://dx.doi.org/10.1002/ajmg.a.20290DOI Listing
September 2003

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

Pediatr Pathol Mol Med 2003 Jan-Feb;22(1):23-35

Departments of Pediatrics & Medical Genetics, Ghent University Hospital, 185 De Pintelaan, B-9000 Ghent, Belgium.

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June 2003