B Isidor

Summary

Affiliation: CHU de Nantes
Country: France

Publications

  1. doi request reprint Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?
    Bertrand Isidor
    CHU Nantes, Service de Genetique Medicale, Nantes, France INSERM, UMR S 957, 1 rue Gaston Veil, Nantes, France
    Am J Med Genet A 161:1829-32. 2013
  2. pmc Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
    Mathieu Milh
    INSERM, UMR_S 910 Faculté de médecine, Marseille, France
    Orphanet J Rare Dis 8:80. 2013
  3. pmc Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
    Bertrand Isidor
    Service de Genetique Medicale, CHU Nantes, Nantes, France
    Eur J Hum Genet 21:784-7. 2013
  4. doi request reprint Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance
    Bertrand Isidor
    CHU Nantes, Service de Genetique Medicale, Nantes, France
    Am J Med Genet A 161:1390-3. 2013
  5. doi request reprint Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?
    Bertrand Isidor
    CHU Nantes, Service de Genetique Medicale, Nantes, France INSERM, UMR957, Nantes, France
    Am J Med Genet A 158:1754-8. 2012
  6. doi request reprint Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy
    Bertrand Isidor
    Clinical Genetic Department, Nantes University Hospital, Nantes Cedex, France
    Am J Med Genet A 152:1550-4. 2010
  7. doi request reprint Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
    Bertrand Isidor
    Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes 7, quai Moncousu, 44000 Nantes Cedex, France
    Am J Med Genet A 152:175-80. 2010
  8. doi request reprint Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course
    Bertrand Isidor
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Nantes, France
    Am J Med Genet A 149:2220-5. 2009
  9. doi request reprint Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization
    B Isidor
    Centre Hospitalier Universitaire de Nantes, France
    Am J Med Genet A 149:1734-9. 2009
  10. doi request reprint Inherited 18q23 duplication in a fetus with multiple congenital anomalies
    Bertrand Isidor
    Medical Genetic Department, Nantes University Hospital, Nantes, France
    Eur J Med Genet 51:231-8. 2008

Collaborators

Detail Information

Publications18

  1. doi request reprint Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?
    Bertrand Isidor
    CHU Nantes, Service de Genetique Medicale, Nantes, France INSERM, UMR S 957, 1 rue Gaston Veil, Nantes, France
    Am J Med Genet A 161:1829-32. 2013
    ..To our knowledge, the phenotype we report on has not been described previously, leading us to speculate that this condition may represent a new syndrome...
  2. pmc Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
    Mathieu Milh
    INSERM, UMR_S 910 Faculté de médecine, Marseille, France
    Orphanet J Rare Dis 8:80. 2013
    ..Our objective was to confirm that KCNQ2 was an important gene to include in the diagnosis workup of EOEEs and to fully describe the clinical and EEG features of mutated patients...
  3. pmc Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
    Bertrand Isidor
    Service de Genetique Medicale, CHU Nantes, Nantes, France
    Eur J Hum Genet 21:784-7. 2013
    ..These findings strongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have a role in the pathogenesis of nephroblastomas...
  4. doi request reprint Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance
    Bertrand Isidor
    CHU Nantes, Service de Genetique Medicale, Nantes, France
    Am J Med Genet A 161:1390-3. 2013
    ..This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X-linked mode of inheritance...
  5. doi request reprint Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?
    Bertrand Isidor
    CHU Nantes, Service de Genetique Medicale, Nantes, France INSERM, UMR957, Nantes, France
    Am J Med Genet A 158:1754-8. 2012
    ..Therefore, we propose that these boys show a clinical entity distinct from the actually known genetic inflammatory/rheumatoid-like osteoarthropathies...
  6. doi request reprint Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy
    Bertrand Isidor
    Clinical Genetic Department, Nantes University Hospital, Nantes Cedex, France
    Am J Med Genet A 152:1550-4. 2010
    ..The presence of consanguinity in one of our patients further supports an autosomal recessive mode of inheritance of what, we believe, constitutes a separate and distinct entity...
  7. doi request reprint Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
    Bertrand Isidor
    Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes 7, quai Moncousu, 44000 Nantes Cedex, France
    Am J Med Genet A 152:175-80. 2010
    ..The association of facial anomalies, short stature, hypogonadism, and gait ataxia in a mentally retarded boy should prompt molecular analyses of the CUL4B gene...
  8. doi request reprint Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course
    Bertrand Isidor
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Nantes, France
    Am J Med Genet A 149:2220-5. 2009
    ....
  9. doi request reprint Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization
    B Isidor
    Centre Hospitalier Universitaire de Nantes, France
    Am J Med Genet A 149:1734-9. 2009
    ..Owing to these reports, we propose the hypothesis that hamartomatous skin pedicles and "ABS plus" are different phenotypes of the human disorder resembling disorganization...
  10. doi request reprint Inherited 18q23 duplication in a fetus with multiple congenital anomalies
    Bertrand Isidor
    Medical Genetic Department, Nantes University Hospital, Nantes, France
    Eur J Med Genet 51:231-8. 2008
    ..Subtelomeres analysis by MLPA identified an 18q23 duplication inherited from its healthy father. We describe the anomalies identified and discuss diagnosis and the causability of this telomeric duplication...
  11. doi request reprint Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity
    B Isidor
    Service de Genetique Medicale, Nantes University Hospital, Nantes, France
    Am J Med Genet A 146:1593-7. 2008
    ..Molecular analysis failed to identify mutations in NOG and FLNB. SCT is therefore, genetically heterogeneous. Both dominant and autosomal recessive forms of inheritance should be considered during genetic counseling...
  12. doi request reprint Hyperzincemia and hypercalprotectinemia: unsuccessful treatment with tacrolimus
    B Isidor
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Nantes, France
    Acta Paediatr 98:410-2. 2009
    ..Conclusion: Tacrolimus seems to have a transient effect in the treatment of Hyperzincemia and hyperprolactinemia...
  13. doi request reprint Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly
    J Albuisson
    CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, Nantes Cedex 01, France
    Clin Genet 79:371-7. 2011
    ..We hypothesize that another nearby regulatory sequence, or an undetected position effect between ZRS and SHH, could be responsible for negative familial cases linked to 7q36...
  14. pmc Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13
    Bertrand Isidor
    CHU Nantes, Service de Genetique Medicale, Nantes, F44093, France
    Am J Hum Genet 87:95-100. 2010
    ....
  15. doi request reprint Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma
    Bertrand Isidor
    Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, Nantes Cedex 1, France
    Eur J Med Genet 51:679-84. 2008
    ..In conclusion, this study illustrates the complexity of such rearrangement characterized by array CGH and strengthens that constitutional 1p36.3 rearrangement predisposes to the development of neuroblastoma...
  16. ncbi request reprint Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth
    Cedric Le Caignec
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Nantes, France
    Am J Med Genet A 143:2696-9. 2007
    ..Pre- and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth...
  17. ncbi request reprint Genochondromatosis type II: report of a new patient and further delineation of the phenotype
    Bertrand Isidor
    Medical Genetic Department, Nantes University Hospital, France
    Am J Med Genet A 143:1919-21. 2007
    ..In addition, this report confirms the benign course of this rare disorder and will help accurate genetic counseling...
  18. ncbi request reprint Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
    Alain Verloes
    Clinical Genetics Unit, APHP Robert DEBRE University Hospital, Paris, France
    Am J Med Genet A 140:1285-96. 2006
    ..Types MKB and V are newly described here...