J. Leroy

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Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

R. Redon, M. Bitner-Glindzicz, G. Mortier, 2010, American journal of human genetics.

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

U. Engelke, R. Wevers, J. Smeitink, 2004, Clinical chemistry.

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, Ankita Patel, J. Lupski, 2005, Journal of Medical Genetics.

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

R. Stevenson, M. Friez, R. Simensen, 2009, Journal of Medical Genetics.

Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts

R. Demars, J. Leroy, 1967, Science.

Creatine transporter defect masquerading as Lujan Syndrome

R. Stevenson, A. Paepe, J. Leroy, 2019 .

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

O. Haas, M. Schmitz, F. Bricarelli, 1997, Human molecular genetics.

Chapter 103 – Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses

J. Leroy, 2013 .

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

G. Dacremont, W. Gahl, M. Huizing, 2001, American journal of human genetics.

Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development

H. Zoghbi, D. Chitayat, S. Maricich, 2011, Journal of child neurology.

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

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

Detection of subtle reciprocal translocations by fluorescence in situ hybridization

L. Goossens, F. Speleman, P. Govaert, 1992, Clinical genetics.

Czech dysplasia metatarsal type: another type II collagen disorder

D. Sillence, G. Mortier, T. Cole, 2007, European Journal of Human Genetics.

Mucolipidosis III Alpha/Beta

M. Friez, J. Leroy, S. Cathey, 2012 .

XYLT1 mutations in Desbuquois dysplasia type 2.

A. Munnich, G. Mortier, C. Bole-Feysot, 2014, American journal of human genetics.

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency

J. Leroy, J. O'brien, A. Giedion, 1976, Clinical genetics.

The Wiedemann-Rautenstrauch or neonatal progeroid syndrome

H. Berghe, J. Leroy, J. Frijns, 1981, European Journal of Pediatrics.

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis

B. Loeys, J. Leroy, L. Defreyne, 1999, European Journal of Pediatrics.

Vacuum extraction, bone injury and neonatal subgaleal bleeding

P. Govaert, J. Leroy, P. Vanhaesebrouck, 1992, European Journal of Pediatrics.

CT diagnosis of neonatal subarachnoid hemorrhage

P. Govaert, J. Leroy, P. Vanhaesebrouck, 2005, Pediatric Radiology.

Arginase isoenzymes in human diploid fibroblasts.

J. Leroy, A. V. Van Elsen, 1975, Biochemical and biophysical research communications.

Congenital toxoplasmosis presenting as massive neonatal ascites.

J. Leroy, K. Smets, P. Vanhaesebrouck, 1988, Helvetica paediatrica acta.

Fragile X trait in a large kindred: transmission also through normal males.

J. Leroy, J. Dumon, M. De Smedt, 1983, Journal of medical genetics.

I-Cell Disease: Biochemical Studies

J. Leroy, J. O'brien, K. Zielke, 1972, Pediatric Research.

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

S. Seneca, L. de Meirleir, W. Lissens, 2009, Electrophoresis.

Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

S. Seneca, D. Matthys, W. Lissens, 2006, Pediatric Research.

Does the clinical phenotype of mucolipidosis-III&ggr; differ from its &agr;&bgr; counterpart?: supporting facts in a cohort of 18 patients

R. Pauli, M. Friez, N. Elçioglu, 2019, Clinical dysmorphology.

Deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients.

K. von Figura, A. Waheed, A. Hasilik, 1982, Biochemical and biophysical research communications.

Ultrastructure of cultured fibroblasts in I-cell disease.

J. Leroy, J. O'brien, J. Hanai, 1971, American journal of diseases of children.

In vitro expression of α-l-fucosidase activity polymorphism observed in plasma

K. Verheyen, P. Willems, J. Leroy, 2004, Human Genetics.

pH-Dependent association-dissociation of high and low activity plasma a-l-fucosidase

P. Willems, J. Leroy, A. Elsen, 2004, Human Genetics.

alpha-D-mannosidases in serum of patients with I-cell disease (ICD).

J. Leroy, A. V. Van Elsen, 1981, Clinica chimica acta; international journal of clinical chemistry.

Alkaline Phosphatase : Activity and Variation in Human Diploid Fibroblasts(1)

J. Leroy, A. Elsen, F. J. Vanneuville, 1978 .

Human hyperargininemia: a mutation not expressed in skin fibroblasts?

J. Leroy, A. V. Van Elsen, 1977, American journal of human genetics.

I-cell disease: a clinical picture.

J. Opitz, J. Leroy, A. Crocker, 1971, The Journal of pediatrics.

Tay-Sachs Disease: Prenatal Diagnosis

J. Leroy, J. O'brien, S. Okada, 1971, Science.

Moebius sequence and prenatal brainstem ischemia.

P. Govaert, J. Leroy, P. Vanhaesebrouck, 1989, Pediatrics.

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

D. Sillence, R. Stevenson, M. Friez, 2013, European Journal of Human Genetics.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

E. Gilbert-Barness, L. Turner, J. Leroy, 2010, Fetal and pediatric pathology.

RMRP mutations in cartilage‐hair hypoplasia

Alyssa A. Tran, Brendan H. Lee, B. Zabel, 2006, American journal of medical genetics. Part A.

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

R. Saul, V. Proud, J. Leroy, 2005, American journal of medical genetics. Part A.

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

R. Dwek, R. Wevers, P. Rudd, 2006, Biochimica et biophysica acta.

Hereditary metabolic disorders.

J. Leroy, 1983, Bulletin de la Societe belge d'ophtalmologie.

Spondylocostal dysostosis and urinary tract anomaly: Definition and review of an entity

J. Leroy, L. Langer, J. Braeckman, 1978, European Journal of Pediatrics.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

P. Govaert, F. Eyskens, B. Loeys, 2013, Human molecular genetics.

Properties of alkaline phosphatase in crude homogenates of human diploid fibroblasts.

J. Leroy, F. J. Vanneuville, 1980, Archives Internationales de Physiologie et de Biochimie.

Chromatographic components of β-hexosaminidase in I-cell disease (Mucolipidosis II)

J. Leroy, A. Elsen, 1979, Human Genetics.

Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote

J. Leroy, A. Vercruyssen, A. Elsen, 1976, Human Genetics.

The Oligosaccharidoses : Current State of Knowledge on Some of the Entities

J. Leroy, 1984 .

The remarkable cells cultured from a human with Hurler’s syndrome: An approach to visual selection forin vitro genetic studies

R. Demars, J. Leroy, 1966, In Vitro.

Dominant mesomelic dwarfism of the hypoplastic tibia, radius type

J. Timmermans, J. Leroy, J. Vos, 1975, Clinical genetics.

Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects

J. Leroy, Jules G Leroy, 2006, Pediatric Research.

Molecular order in mucolipidosis II and III nomenclature

V. McKusick, T. Braulke, J. Leroy, 2008, American journal of medical genetics. Part A.

Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis.

J. Martín, J. Leroy, C. Navarro, 1973, The New England journal of medicine.

Diagnostic work-up of a peroxisomal patient

H. Mandel, R. Wanders, B. Poll-The, 1995, Journal of Inherited Metabolic Disease.

Mutations in different components of FGF signaling in LADD syndrome

C. Cremers, H. Brunner, H. Kayserili, 2006, Nature Genetics.

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

L. Messiaen, B. Leroy, J. Leroy, 2004, American journal of medical genetics. Part A.

Is t(6;20)(p21;q13) a characteristic chromosome change in endometrial polyps?

E. van Marck, F. Speleman, P. Cin, 1991, Genes, chromosomes & cancer.

Molecular cytogenetic analysis of a complex t(10;22;11) translocation in ewing's sarcoma

F. Speleman, J. Wiegant, D. Uyttendaele, 1992, Genes, chromosomes & cancer.

Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization

F. Speleman, D. Viljoen, J. Leroy, 1992, Clinical genetics.

Letters to the EditorFUCOSIDOSIS

J. Leroy, 1968 .

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

G. Mortier, D. Wieczorek, R. Kooy, 2016, European Journal of Human Genetics.

Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.

P. Willems, C. Gevaert, J. Leroy, 1993, American journal of medical genetics.

Deficient expression of decorin in infantile progeroid patients.

E. Schönherr, H. Kresse, J. Leroy, 1993, The Journal of biological chemistry.

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

Jo Lambert, Lieve Nuytinck, G. Mortier, 2007, American journal of medical genetics. Part A.

Oligohydramnios, Renal Insufficiency, and Heal Perforation in Preterm Infants after Intrauterine Exposure to Indomethacin

M. Thiéry, P. Govaert, J. Leroy, 1988, The Journal of pediatrics.

Deficiency of neuraminidase in the sialidoses and the mucolipidoses

J. Leroy, W. D. Tandt, 1980, Human Genetics.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

G. Mortier, A. Verloes, F. Plasschaert, 2009, American journal of medical genetics. Part A.

Mesomelic Dysplasia With Specific Autopodal Synostoses: A Third Observation And Further Delineation Of The Multiple Congenital Anomaly Syndrome

G. Mortier, Brendan H. Lee, J. Leroy, 2003, Pediatric pathology & molecular medicine.

Perinatal manifestations of maternal yellow nail syndrome.

P. Govaert, J. Leroy, P. Vanhaesebrouck, 1992, Pediatrics.

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

Philippe De Wilde, F. Speleman, B. Menten, 2005, European Journal of Human Genetics.

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

M. Simpson, M. Vikkula, R. Trembath, 2012, American journal of human genetics.

STUDIES ON THE GENETICS OF THE HURLER–HUNTER SYNDROME*

J. Leroy, A. Crocker, 1967 .

Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients.

J. Leroy, A. Crocker, 1966, American journal of diseases of children.

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

A. Olsen, H. Mohrenweiser, G. Mortier, 1995, Nature Genetics.

Nonsyndromic microcephaly: an overview.

J. Leroy, J. Frías, 2005, Advances in pediatrics.

In vitro expression of alpha-L-fucosidase activity polymorphism observed in plasma.

K. Verheyen, P. Willems, J. Leroy, 1983, Human genetics.

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

J. Amiel, J. Leroy, G. Lyon, 2007, Acta Neuropathologica.

Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects

Guillaume Sebire, Sara Seneca, S. Seneca, 2001, Pediatric Research.

Mucolipidosis II (I-cell disease): present status of knowledge.

J. J. Martin, J. Leroy, 1975, Birth defects original article series.

Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, Southern hybridization and non-isotopic in situ hybridization

F. Speleman, J. Wiegant, J. Leroy, 1990, Human Genetics.

The oligosaccharidoses: proposal of a new name and a new classification for the mucolipidoses.

J. Leroy, 1982, Birth defects original article series.

Creatine kinase isoenzyme BB concentrations in the cerebrospinal fluid of newborns: relationship to short-term outcome.

P. Govaert, J. Leroy, P. Vanhaesebrouck, 1991, Pediatrics.

Aminoacylase I deficiency: a novel inborn error of metabolism.

S. Seneca, L. de Meirleir, B. Devreese, 2005, Biochemical and biophysical research communications.

New observation of sialuria prompts detection of liver tumor in previously reported patient.

R. Stevenson, M. Huizing, Nansheng Chen, 2016, Molecular genetics and metabolism.

Aminoterminal Propeptide of Type III Procollagen in Cord Blood and Amniotic Fluid of Appropriate-for-Gestational-Age Infants: A Predictor of Age-Related Fetal Growth Rate

J. Leroy, M. Dhont, J. Kint, 1994, Pediatric Research.

Aminoterminal Propeptide of Type III Procollagen in Cord Blood and Amniotic Fluid of High-Risk Pregnancies: A Biochemical Approach to the Dynamic Assessment of Deviant Fetal Growth

P. Govaert, J. Leroy, J. Kint, 1994, Pediatric Research.

TO JMG Deletion 9 q 34 . 3 syndrome : genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, J. Lupski, S. Cheung, 2005 .

H. Warren, S. Skinner, R. Louie, 2018, Clinical case reports.

Long‐term observation of a patient with dominant omodysplasia

J. Leroy, J. Frías, N. Champaigne, 2014, American journal of medical genetics. Part A.

Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts.

J. Leroy, J. O'brien, S. Okada, 1971, American journal of human genetics.

Cerebro-costo-mandibular syndrome with autosomal dominant inheritance.

J. Leroy, E. Devos, N. Robbe, 1981, The Journal of pediatrics.

I-Cell disease (mucolipidosis type II) serum hydrolases in obligate heterozygotes

J. Leroy, A. Elsen, 2004, Humangenetik.

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

G. Mortier, L. Biesecker, D. Rimoin, 1998, American journal of human genetics.

Urine volume and catecholamine excretion in man.

J. Leroy, A. D. De Schaepdryver, 1961, Acta cardiologica.

Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes

R. Saul, V. Proud, J. Leroy, 2006 .

MRI findings in a neonate with cerebellar agenesis.

J. Leroy, R. Van Coster, P. Vanhaesebrouck, 1998, Pediatric neurology.

Deficiency of Arylsulphatase A in Leucocytes and Skin Fibroblasts in Juvenile Metachromatic Leucodystrophy

J. Leroy, J. Dumon, J. Radermecker, 1970, Nature.

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.

B. Loeys, J. Leroy, M. Lemmerling, 1999, American journal of medical genetics.

Episiotomy and neonatal lidocaine intoxication

P. Govaert, J. Leroy, P. Vanhaesebrouck, 1991, European Journal of Pediatrics.

Alkaline Phosphatase: Properties in Crude Homogenates of Human Diploid Fibroblasts

J. Leroy, A. V. Van Elsen, F. J. Vanneuville, 1977 .

Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome.

J. Leroy, K. Adriaenssens, R. de Hauwere, 1973, Jornal de Pediatria.

Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.

F. Meire, J. Leroy, A. Smets, 1996, American journal of medical genetics.