A Verloes

Summary

Country: Belgium

Publications

  1. ncbi request reprint Agenesis of the corpus callosum, camptodactyly and obesity
    A Verloes
    Wallonia Centre for Human Genetics, Liege University, CHU Sart Tilman, Belgium
    Clin Dysmorphol 9:107-9. 2000
  2. ncbi request reprint Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma
    A Verloes
    Wallonia Center for Human Genetics, Liege University, Liege, Belgium
    Am J Med Genet 86:454-8. 1999
  3. ncbi request reprint Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
    A Verloes
    Wallonia Center for Human Genetics, Liege University, Belgium
    Am J Med Genet 90:407-22. 2000
  4. ncbi request reprint 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
  5. ncbi request reprint 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
  6. ncbi request reprint New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy
    A Verloes
    Wallonia Centre for Human Genetics, Liege University, Belgium
    Clin Dysmorphol 10:29-31. 2001
  7. ncbi request reprint Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens
    A Verloes
    Wallonia Centre for Human Genetics, , CHU Sart Tilman, B-4000, , Belgium
    Ann Genet 44:59-62. 2001
  8. ncbi request reprint Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
    J Poncin
    Department of Medical Genetics, University Hospital, Univeristé de Liège, Belgium
    Hum Mutat 13:54-60. 1999
  9. ncbi request reprint A new form of mandibulofacial dysostosis with macroblepharon and macrostomia
    A Verloes
    Centre for Human Genetics, Liege University, CHU Sart Tilman, Belgium
    Clin Dysmorphol 6:21-4. 1997
  10. ncbi request reprint Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia
    A Verloes
    Wallonia Centre for Human Genetics, , , Belgium
    Am J Med Genet 101:209-12. 2001

Collaborators

Detail Information

Publications28

  1. ncbi request reprint Agenesis of the corpus callosum, camptodactyly and obesity
    A 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...
  2. ncbi request reprint Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma
    A 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)..
  3. ncbi request reprint Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
    A 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...
  4. ncbi request reprint 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
    ....
  5. ncbi request reprint 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...
  6. ncbi request reprint New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy
    A Verloes
    Wallonia Centre for Human Genetics, Liege University, Belgium
    Clin Dysmorphol 10:29-31. 2001
    ....
  7. ncbi request reprint Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens
    A 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...
  8. ncbi request reprint Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
    J 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...
  9. ncbi request reprint A new form of mandibulofacial dysostosis with macroblepharon and macrostomia
    A Verloes
    Centre for Human Genetics, Liege University, CHU Sart Tilman, Belgium
    Clin Dysmorphol 6:21-4. 1997
    ....
  10. ncbi request reprint Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia
    A 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...
  11. ncbi request reprint Precocious puberty associated with partial trisomy 18q and monosomy 11q
    L 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...
  12. ncbi request reprint Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation
    E 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...
  13. ncbi request reprint MECP2 is highly mutated in X-linked mental retardation
    P 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...
  14. ncbi request reprint Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
    A 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...
  15. pmc Autism, language delay and mental retardation in a patient with 7q11 duplication
    C Depienne
    J Med Genet 44:452-8. 2007
    ..However, only four patients with a duplication of the WBCR have been reported to date: one with severe language delay and the three others with variable developmental, psychomotor and language delay...
  16. pmc Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
    W 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...
  17. pmc Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
    B 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...
  18. pmc Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
    L 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...
  19. pmc PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
    B Keren
    Laboratoire de Biochimie Genetique, Hopital Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    J Med Genet 41:e117. 2004
  20. pmc A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation
    D Genevieve
    J Med Genet 41:e77. 2004
  21. ncbi request reprint Clinical and genetic heterogeneity of Seckel syndrome
    L Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, 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...
  22. pmc Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
    L 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...
  23. ncbi request reprint Neuroimaging fails to identify asymptomatic carriers of familial porencephaly
    C Vilain
    Department of Medical Genetics, Hopital Erasme, Universite Libre de Bruxelles, 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...
  24. ncbi request reprint Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita
    A 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...
  25. pmc Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis
    B 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...
  26. ncbi request reprint The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    L 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...
  27. pmc p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H 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...
  28. ncbi request reprint Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
    J 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...