Research Topics
Species | A VerloesSummaryCountry: Belgium Publications
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Detail Information
Publications
Agenesis of the corpus callosum, camptodactyly and obesityA Verloes
Wallonia Centre for Human Genetics, Liege University, CHU Sart Tilman, Belgium
Clin Dysmorphol 9:107-9. 2000..Although this child shares features with acrocallosal syndrome and Camera-Marugo-Cohen syndrome, we think that this combination of anomalies allows the delineation of a new MCA/MR syndrome, possibly recessively inherited...- Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the dermaA Verloes
Wallonia Center for Human Genetics, Liege University, Liege, Belgium
Am J Med Genet 86:454-8. 1999..This entity may be designed as the koraxitrachitic syndrome (kappaomicronrhoalphaxi:grapnel- taurhoalphachiiotatauepsilonsigma: roughness).. - Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasiaA Verloes
Wallonia Center for Human Genetics, Liege University, Belgium
Am J Med Genet 90:407-22. 2000..The relationships to similar syndromes (i.e., Saint-Martin-Gardner-Morrisson syndrome, serpentine fibula syndrome, atelosteogenesis type 3, boomerang dysplasia, and Yunis-Varon syndrome) are discussed... - Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?A Verloes
Wallonia Centre for Human Genetics, Liege University, Liege, Belgium
Eur J Hum Genet 9:1-4. 2001.... - New dysostosis showing multilevel absence of vertebral pedicles: unique developmental anomaly of vertebral arches?A Verloes
Wallonia Centre for Human Genetics, Liege University, Liege, Belgium
Am J Med Genet 95:473-6. 2000..Because the anomalies affect multiple levels, we highly suspect a genetic basis to this unusual dysostosis affecting the development of the posterior sclerotomes... - New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathyA Verloes
Wallonia Centre for Human Genetics, Liege University, Belgium
Clin Dysmorphol 10:29-31. 2001.... - Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogensA Verloes
Wallonia Centre for Human Genetics, , CHU Sart Tilman, B-4000, , Belgium
Ann Genet 44:59-62. 2001..Episphalosomic syndrome shows some clinical overlap with Fanconi anemia, but lacks its cytogenetic hallmark. The hematological complications of Fanconi anemia have not been reported in this entity... - Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseasesJ Poncin
Department of Medical Genetics, University Hospital, Univeristé de Liège, Belgium
Hum Mutat 13:54-60. 1999..We observed no significant correlation between the nature or position of mutation and the clinical status. We have also detected 6 intragenic polymorphisms and DNA sequence variants and have analyzed their frequencies in our population... - A new form of mandibulofacial dysostosis with macroblepharon and macrostomiaA Verloes
Centre for Human Genetics, Liege University, CHU Sart Tilman, Belgium
Clin Dysmorphol 6:21-4. 1997.... - Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemiaA Verloes
Wallonia Centre for Human Genetics, , , Belgium
Am J Med Genet 101:209-12. 2001..Psychomotor development was moderately delayed. No mutations were found in exons of BKT and PAX-5 genes. This unreported constellation could represent a novel, autosomal recessive syndrome... - Precocious puberty associated with partial trisomy 18q and monosomy 11qL Mutesa
Center for Human Genetics, CHU Sart Tilman, University of Liege, Belgium
Genet Couns 18:201-7. 2007..Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,der(11)t(11;18)(q24;q13). To the best of our knowledge, this is the first report of precocious puberty associated with either dup(18q) or del(11q) syndromes... - Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere
Department of Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
Hum Mol Genet 10:1591-600. 2001..Furthermore, we propose that in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect... - MECP2 is highly mutated in X-linked mental retardationP Couvert
INSERM Unité 129 ICGM, CHU Cochin 24 Rue du Faubourg Saint Jacques, 75014 Paris, France
Hum Mol Genet 10:941-6. 2001..Therefore, implementation of systematic screening of MECP2 in MR patients should result in significant progress in the field of molecular diagnosis and genetic counseling of mental handicap... - Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variabilityA Delahaye
Medical Genetics Department, Robert Debre University Hospital, Paris, France
Clin Genet 72:112-21. 2007..These familial reports describe the intrafamilial variability of CHARGE syndrome, and underline the presence of CHD7 mutations in patients who do not fit the 'classical clinical criteria' for CHARGE syndrome... 
Autism, language delay and mental retardation in a patient with 7q11 duplicationC Depienne
J Med Genet 44:452-8. 2007..These findings also support the existence of one or several genes in 7q11.23 sensitive to gene dosage and involved in the development of language and social interaction...- Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert
J Med Genet 43:e22. 2006..Our data confirm the broad clinical spectrum of CS with some patients lacking even the characteristic facial gestalt and pigmentary retinopathy at school age... - Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr
Regional Genetic Service, Central Manchester University Hospital NHS Trust, Manchester, UK
J Med Genet 43:401-5. 2006..Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRAS gene on chromosome 11p13.3 have been found to cause CS... - Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 geneL Van Maldergem
Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
J Med Genet 43:148-52. 2006..Our results confirm that BGS in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses RTS and RAPADILINO syndrome... - PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experienceB Keren
, , 48, , 75019 Paris, France
J Med Genet 41:e117. 2004 - A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardationD Genevieve
J Med Genet 41:e77. 2004 - Clinical and genetic heterogeneity of Seckel syndromeL Faivre
, , Paris, France
Am J Med Genet 112:379-83. 2002..These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition... - Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyL Van Maldergem
Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
J Med Genet 39:722-33. 2002..The higher prevalence of intellectual impairment and the increased risk of premature death in BSCL2 compared to BSCL1 emphasise the importance of molecular diagnosis of this syndrome and have clear implications for genetic counselling... - Neuroimaging fails to identify asymptomatic carriers of familial porencephalyC Vilain
Department of Medical Genetics, , , Belgium
Am J Med Genet 112:198-202. 2002..These investigations failed to show any congenital abnormalities. We conclude that cerebral imaging is unreliable to detect obligate carriers of familial porencephaly... - Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenitaA Terrinoni
Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK
J Invest Dermatol 117:1391-6. 2001..This study establishes useful diagnostic criteria for pachyonychia congenita types 1 and 2, which will help limit unnecessary DNA analysis in the diagnosis and management of this genetically heterogeneous group of genodermatoses... - Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosisB D Gelb
Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA
Am J Hum Genet 62:848-54. 1998..This patient represents the first case of paternal uniparental disomy of chromosome 1 and provides conclusive evidence that paternally derived genes on human chromosome 1 are not imprinted... - The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeL Crisponi
Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
Nat Genet 27:159-66. 2001..FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat... - p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven
Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 69:481-92. 2001..There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS... - Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13J Magre
INSERM U 402, Faculte de Medecine Saint Antoine, Universite Pierre et Marie Curie, 27 rue Chaligny, 75012 Paris, France
Nat Genet 28:365-70. 2001..These findings are of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance...