Dominique Bonneau

Summary

Affiliation: Centre Hospitalier Universitaire
Country: France

Publications

  1. pmc Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
    Marie Morimoto
    Provincial Medical Genetics Program, Department of Medical Genetics, Children s and Women s Health Centre of BC, 4500 Oak Street, Room C234, Vancouver, BC, V6H 3N1, Canada
    Orphanet J Rare Dis 7:70. 2012
  2. pmc Dominant optic atrophy
    Guy Lenaers
    Institut des Neurosciences de Montpellier, U1051 de l INSERM, Université de Montpellier I et II, BP 74103, F 34091 Montpellier cedex 05, France
    Orphanet J Rare Dis 7:46. 2012
  3. pmc Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration
    Claire Angebault
    INSERM U771, Angers 49000, France
    BMC Res Notes 4:557. 2011
  4. ncbi request reprint [Medical genetics consultation]
    Dominique Bonneau
    Département de biochimie et de génétique, CHU d Angers, 49933 Angers Cedex 9
    Rev Prat 61:522-5. 2011
  5. ncbi request reprint [Genetics of specific language impairments]
    D Bonneau
    Service de Genetique, Centre Hospitalier Universitaire d Angers, 4, rue Larrey, 49033 Angers, France
    Arch Pediatr 11:1213-6. 2004
  6. ncbi request reprint X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings
    Dominique Bonneau
    Service de Genetique Medicale, Centre Hospitalier Universitaire d Angers, Angers, France
    Ann Neurol 51:340-9. 2002
  7. doi request reprint [Genetic testing in the context of the revision of the French law on bioethics]
    D Bonneau
    INSERM U 694, Service de Genetique, CHU d Angers, 4 rue Larrey, 49933 Angers Cedex 9, France
    Pathol Biol (Paris) 58:396-401. 2010
  8. doi request reprint Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity
    Virginie Guillet
    INSERM, U694, Angers, F 49000, France
    Mitochondrion 10:115-24. 2010
  9. doi request reprint OPA1-associated disorders: phenotypes and pathophysiology
    Patrizia Amati-Bonneau
    INSERM U694, Angers, France
    Int J Biochem Cell Biol 41:1855-65. 2009
  10. doi request reprint Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease
    Virginie Guillet
    INSERM, U694, Angers, 49000, France
    Neurogenetics 11:127-33. 2010

Detail Information

Publications75

  1. pmc Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
    Marie Morimoto
    Provincial Medical Genetics Program, Department of Medical Genetics, Children s and Women s Health Centre of BC, 4500 Oak Street, Room C234, Vancouver, BC, V6H 3N1, Canada
    Orphanet J Rare Dis 7:70. 2012
    ..However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown...
  2. pmc Dominant optic atrophy
    Guy Lenaers
    Institut des Neurosciences de Montpellier, U1051 de l INSERM, Université de Montpellier I et II, BP 74103, F 34091 Montpellier cedex 05, France
    Orphanet J Rare Dis 7:46. 2012
    ..The disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain...
  3. pmc Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration
    Claire Angebault
    INSERM U771, Angers 49000, France
    BMC Res Notes 4:557. 2011
    ..abstract:..
  4. ncbi request reprint [Medical genetics consultation]
    Dominique Bonneau
    Département de biochimie et de génétique, CHU d Angers, 49933 Angers Cedex 9
    Rev Prat 61:522-5. 2011
    ..A specific aspect of genetic counselling is that it is aimed at healthy or affected individuals taking into account all the members of their family...
  5. ncbi request reprint [Genetics of specific language impairments]
    D Bonneau
    Service de Genetique, Centre Hospitalier Universitaire d Angers, 4, rue Larrey, 49033 Angers, France
    Arch Pediatr 11:1213-6. 2004
    ..Finally, a specific gene (FOXP2) has been identified on the long arm of chromosome 7 in a family affected with SLI, and several regions of the genome, i.e. 7q31, 16q and 19q, have been found to be strongly linked to SLI...
  6. ncbi request reprint X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings
    Dominique Bonneau
    Service de Genetique Medicale, Centre Hospitalier Universitaire d Angers, Angers, France
    Ann Neurol 51:340-9. 2002
    ....
  7. doi request reprint [Genetic testing in the context of the revision of the French law on bioethics]
    D Bonneau
    INSERM U 694, Service de Genetique, CHU d Angers, 4 rue Larrey, 49933 Angers Cedex 9, France
    Pathol Biol (Paris) 58:396-401. 2010
    ....
  8. doi request reprint Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity
    Virginie Guillet
    INSERM, U694, Angers, F 49000, France
    Mitochondrion 10:115-24. 2010
    ..Mitochondrial genetic variations may therefore be predisposing factors in EMB-induced ocular injury...
  9. doi request reprint OPA1-associated disorders: phenotypes and pathophysiology
    Patrizia Amati-Bonneau
    INSERM U694, Angers, France
    Int J Biochem Cell Biol 41:1855-65. 2009
    ..Finally, OPA1 represents an important new paradigm for emerging neurodegenerative diseases affecting mitochondrial structure, plasticity and functions...
  10. doi request reprint Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease
    Virginie Guillet
    INSERM, U694, Angers, 49000, France
    Neurogenetics 11:127-33. 2010
    ..Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that MFN2 plays a role in controlling ATP/ADP exchanges...
  11. doi request reprint Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
    Julien Cassereau
    INSERM, U694, 4 rue Larrey, Angers, 49933, France
    Neurogenetics 10:145-50. 2009
    ..Thus, besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume...
  12. doi request reprint Hereditary optic neuropathies share a common mitochondrial coupling defect
    Arnaud Chevrollier
    Institut National de la Sante et de la Recherche Medicale, U694, Départment de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France
    Ann Neurol 63:794-8. 2008
    ..Interestingly, the energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and autosomal dominant optic atrophy patients with a more complex phenotype, the so-called plus phenotype...
  13. ncbi request reprint Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
    Marc Ferre
    INSERM, U694, Angers, F 49000, France
    Hum Mutat 30:E692-705. 2009
    ..Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease...
  14. doi request reprint [From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders]
    Guy Lenaers
    Centre Hospitalier Universitaire d Angers, 49933 Angers Cedex 9, France
    Med Sci (Paris) 26:836-41. 2010
    ....
  15. doi request reprint Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation
    Virginie Guillet
    Unité Mixte de Recherche Centre National de Recherche Scientifique CNRS 6214, Institut National de Santé et de Recherche Me dicale INSERM U771, Angers, France
    FASEB J 25:1618-27. 2011
    ..Our results show that the R94Q MFN2 mutation induces a combined defect of complexes II and V linked to the opening of mK(ATP), which could participate in the pathophysiology of the disease...
  16. doi request reprint Genetically determined optic neuropathies
    Dan Milea
    Department of Ophthalmology, Angers University Hospital, Angers, France
    Curr Opin Neurol 23:24-8. 2010
    ..The present review focuses on recent advances in the knowledge of hereditary optic neuropathies resulting from retinal ganglion cell degeneration, mostly due to mitochondrial dysfunctions...
  17. pmc A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
    Julien Cassereau
    INSERM, U771, Angers, F 49000, France
    Orphanet J Rare Dis 6:87. 2011
    ..Locus-specific databases (LSDB) established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases...
  18. pmc Is ABCC6 a genuine mitochondrial protein?
    Marc Ferre
    CNRS 6214 INSERM 1083, Angers University, Angers, France
    BMC Res Notes 6:427. 2013
    ..Circ Res 2012, 111:516-520. We present complementary information based on a bioinformatics analysis, which was not performed in the article cited, to examine the suggestion that ABCC6 is localized to mitochondria...
  19. pmc Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS
    Valérie Desquiret-Dumas
    Department of Biochemistry and Genetics, Angers University Hospital, School of Medicine, Angers, F 49000, France
    Biochim Biophys Acta 1822:1019-29. 2012
    ..Thus, metabolically induced heteroplasmy shifting and l-arginine therapy may constitute promising therapeutic strategies against MELAS...
  20. doi request reprint Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy
    Cédric Lamirel
    Departement d Ophtalmologie, CHU, 4 rue Larrey, F 49033 Angers, France
    J Neurol Neurosurg Psychiatry 81:578-80. 2010
    ..The visual loss related to LHON could have been triggered in the setting of the chronic papilloedema, associated with the intracranial hypertension...
  21. doi request reprint Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE
    Ludovic Martin
    Department of Dermatology, University of Angers, CHU d Angers, 4 rue Larrey, F 49933 Angers Cedex 9, France
    Arch Dermatol 144:301-6. 2008
    ....
  22. doi request reprint Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
    Anouck Schneider
    Service de Genetique, UFR de Medecine, Reims CHU, Hopital Maison Blanche, 45 rue Cognacq Jay, Reims, France
    Eur J Hum Genet 16:680-7. 2008
    ..67+/-0.10 Mb, respectively. The paternal origin of the deleted chromosome 14 was established by genotyping of microsatellites for patient 1 and the phenotype of terminal del(14)(q32) was compared to maternal uniparental disomy 14...
  23. ncbi request reprint OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
    Patrizia Amati-Bonneau
    Département de Biochimie et Génétique, Centre Hospitalier Universitaire d Angers, Angers, France
    Brain 131:338-51. 2008
    ..Our results show that certain OPA1 mutations exert a dominant negative effect responsible for multi-systemic disease, closely related to classical mitochondrial cytopathies, by a mechanism involving mtDNA instability...
  24. ncbi request reprint Arithmetic word-problem-solving in Huntington's disease
    Philippe Allain
    Neuropsychological Unit, Department of Neurology, University Hospital of Angers, France
    Brain Cogn 57:1-3. 2005
    ..In these patients, impairments in planning solvable word problems were more frequent when lesions were in the lateral prefrontal regions...
  25. ncbi request reprint The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
    Patrizia Amati-Bonneau
    INSERM E0018 et Laboratoire de Biochimie et Biologie moléculaire, CHU Angers, Angers, France
    Am J Ophthalmol 136:1170-1. 2003
    ..To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness...
  26. ncbi request reprint Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: implication for neonatal screening of congenital adrenal hyperplasia
    Frédérique Gatelais
    Department of Pediatrics, University Hospital, 15 Rue Larrey, 49000 Angers, France
    Pediatr Res 56:701-5. 2004
    ..50, p <0.001). Multiple courses of steroids in preterm infants decrease 17-OHP values by approximately 30% in filter-paper blood, thus raising the risk of false-negative results in screening programs for CAH...
  27. doi request reprint The neural substrates of script knowledge deficits as revealed by a PET study in Huntington's disease
    Philippe Allain
    Departement de Neurologie, CHU Angers, France
    Neuropsychologia 49:2673-84. 2011
    ..Previous neuropsychological investigations have suggested that both the prefrontal cortex and the basal ganglia are involved in the management of script event knowledge required in planning behavior...
  28. ncbi request reprint [An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]
    C Verny
    Departement de Neurologie, Centre Hospitalier Universitaire, Paris
    Rev Neurol (Paris) 161:451-4. 2005
    ..The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sjogren syndrome and Friedreich's ataxia...
  29. ncbi request reprint [Processing of "scripts" and frontal lobe function in Huntington's disease]
    P Allain
    Unité de Neuropsychologie, Departement de Neurologie, CHU, Angers
    Rev Neurol (Paris) 160:434-40. 2004
    ..In these patients, impairment in script sequencing is related to lesions in the lateral prefrontal regions...
  30. ncbi request reprint Endocrine function in a 48,XXYY adult with type 2 diabetes: case report with a review of the literature
    S Dubois
    Department of Endocrinology, Diabetes and Nutrition, University Hospital of Angers, France
    Ann Endocrinol (Paris) 68:384-8. 2007
    ..We compare the phenotypic, behavioral and pathological features of the syndrome in our patient with other reports in the literature...
  31. ncbi request reprint Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene
    C Verny
    Centre National de Référence pour les Maladies Neurogénétiques et Mitochondriales de l Adulte, Centre Hospitalier Universitaire, Angers, France
    Eur J Neurol 14:1344-50. 2007
    ....
  32. doi request reprint Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome
    Isabelle Pénisson-Besnier
    Departement de Neurologie, CHU Angers, Angers, France
    Am J Med Genet A 146:464-7. 2008
    ..The natural history of SGBS in adults is poorly known, and this case raises the question of a possible vascular risk associated with the disease...
  33. ncbi request reprint A gene for Leber's congenital amaurosis maps to chromosome 17p
    A Camuzat
    , INSERM U 393, , Paris, France
    Hum Mol Genet 4:1447-52. 1995
    ..The genetic heterogeneity of LCA will complicate the prenatal detection of this frequent cause of congenital blindness...
  34. pmc A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results
    Fabrice Airaud
    CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, Nantes Cedex 1, France
    World J Gastroenterol 18:5635-9. 2012
    ..Furthermore, the discordant results observed between replication error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome...
  35. pmc Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles
    Sebastien Kury
    Sébastien Küry, Céline Garrec, Fabrice Airaud, Flora Breheret, Virginie Guibert, Cécile Frenard, Stéphane Bezieau, CHU Nantes, Service de Genetique Medicale, 44093 Nantes Cedex 1, France
    World J Gastroenterol 20:204-13. 2014
    ..To evaluate the risk associated with variants of the UNC5C gene recently suspected to predispose to familial colorectal cancer (CRC)...
  36. doi request reprint Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature
    Edouard Cottereau
    Service de Genetique, Centre Hospitalo Universitaire, and UMR INSERM U930, Faculte de Medecine, Universite Francois Rabelais, Tours, France
    Am J Med Genet C Semin Med Genet 163:92-105. 2013
    ..We present here the results of the analysis of 42 patients belonging to 31 families and including five fetuses and three deceased neonates...
  37. ncbi request reprint Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease
    Dominique Loiseau
    Institut National de la Santé et de la Recherche Médicale U694, Angers, France
    Ann Neurol 61:315-23. 2007
    ..Mutations of the mitofusin 2 gene (MFN2) may account for at least a third of the cases of Charcot-Marie-Tooth disease type 2 (CMT2). This study investigates mitochondrial cellular bioenergetics in MFN2-related CMT2A...
  38. doi request reprint Perrault syndrome: report of four new cases, review and exclusion of candidate genes
    Sandrine Marlin
    Hopital Trousseau, Service de Genetique, APHP, Paris, France
    Am J Med Genet A 146:661-4. 2008
    ..Moreover we excluded GJB2, POLG, and FOXL2 as candidate genes in Perrault syndrome...
  39. doi request reprint Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family
    Estelle Colin
    CHU Angers Département de Biochimie et de Génétique, Angers, France
    Prenat Diagn 32:692-4. 2012
    ..We describe prenatal diagnosis of CHARGE syndrome confirmed by identification of a mutation in CHD7 gene in a previously unaffected family. © 2012 John Wiley & Sons, Ltd...
  40. doi request reprint Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy
    C Verny
    Departement de Neurologie, Centre Hospitalier Universitaire, INSERM U694, Angers, France
    Neurology 70:1152-3. 2008
  41. pmc No evidence of genetic heterogeneity in dominant optic atrophy
    D Bonneau
    , INSERM U393, , Paris, France
    J Med Genet 32:951-3. 1995
    ..Multipoint analysis supports the mapping of the disease gene to the genetic interval defined by loci D3S1314 and D3S1265. The present study provides three new markers closely linked to the disease gene for future genetic studies in OPA...
  42. ncbi request reprint Refsum's disease may mimic familial Guillain Barre syndrome
    Christophe Verny
    Centre national de référence des maladies neurogénétiques et cytopathies mitochondriales de l adulte, Centre Hospitalier Universitaire, Angers, France
    Neuromuscul Disord 16:805-8. 2006
    ....
  43. ncbi request reprint Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2
    Agnes Guichet
    Service de Genetique Medicale, CHU Angers, France
    Prenat Diagn 24:828-32. 2004
    ....
  44. ncbi request reprint X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    P Saugier-Veber
    Service de Genetique, Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393 Paris, France
    Nat Genet 6:257-62. 1994
    ..63, theta = 0.00). It appears, therefore, that SPG2 and PMD are allelic disorders...
  45. ncbi request reprint Genetic heterogeneity of Usher syndrome type 1 in French families
    D Larget-Piet
    Service de Genetique, INSERM U 393, Hopital des Enfants Malades, Paris, France
    Genomics 21:138-43. 1994
    ..90). Consistent with this, nonsignificant lod score values for linkage to either USH1B or USH1C were found in this group.(ABSTRACT TRUNCATED AT 250 WORDS)..
  46. ncbi request reprint Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis
    C Verny
    Departement de Neurologie, Centre Hospitalier Universitaire, 49033 Angers, France
    Diabetes Metab 34:620-6. 2008
    ....
  47. ncbi request reprint Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
    Mitsuhiro Kato
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Hum Mutat 23:147-59. 2004
    ....
  48. ncbi request reprint Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy
    Olivier Baris
    INSERM E 00 18, Laboratoire de Biochimie et Biologie Moleculaire, CHU Angers, France
    Hum Mutat 21:656. 2003
    ..These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy...
  49. ncbi request reprint Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family
    Bruno Mortemousque
    Service d Ophtalmologie, Centre Hospitalier et Universitaire Bordeaux, Bordeaux, France
    Arch Ophthalmol 122:1527-33. 2004
    ....
  50. ncbi request reprint Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis
    Aurelien Olichon
    Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération, Universite Paul Sabatier, Toulouse, France
    J Cell Physiol 211:423-30. 2007
    ....
  51. ncbi request reprint Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia
    Marie Claire Vincent
    Arch Dermatol 138:1256-8. 2002
  52. ncbi request reprint Mitochondrial dynamics and disease, OPA1
    Aurelien Olichon
    Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération, Universite Paul Sabatier, 118 route de Narbonne, 31062 Toulouse, France
    Biochim Biophys Acta 1763:500-9. 2006
    ..This review will focus on data concerning the function of OPA1, mutations in which cause optic atrophy, with respect to the underlying pathophysiological processes...
  53. ncbi request reprint OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
    Patrizia Amati-Bonneau
    INSERM U694, Laboratoire de Biochimie et Biologie Moleculaire, Centre Hospitalier Universitaire, F 49033 Angers, France
    Ann Neurol 58:958-63. 2005
    ..In addition, OPA1 was found to be widely expressed in the sensory and neural cochlear cells of the guinea pig. Thus, optic atrophy and deafness may be related to energy defects due to a fragmented mitochondrial network...
  54. ncbi request reprint Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism
    Virginie Laurier
    Laboratoire de Génétique Médicale EA 3949, Faculté de médecine de Strasbourg, Universite Louis Pasteur, Strasbourg, France
    Eur J Hum Genet 14:1195-203. 2006
    ....
  55. doi request reprint Reversible optic neuropathy with OPA1 exon 5b mutation
    Karen Cornille
    Institut National de la Santé et de la Recherche Médicale U583, Institut des Neurosciences de Montpellier, Université de Montpellier I et II, Montpellier, France
    Ann Neurol 63:667-71. 2008
    ..These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation...
  56. ncbi request reprint Schimke immunoosseous dysplasia: suggestions of genetic diversity
    J Marietta Clewing
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Mutat 28:273-83. 2007
    ..This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD...
  57. ncbi request reprint Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort
    Haifa Hichri
    Laboratoire de Diagnostic Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Eur J Hum Genet 13:607-16. 2005
    ..This study underlines the genetic heterogeneity of the BBS and the involvement of possibly unidentified genes...
  58. ncbi request reprint Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics
    Guillaume Bouguen
    Service des Maladies de l Appareil digestif, Centre Hospitalier Universitaire Pontchaillou, 2 rue Henri Le Guilloux, Rennes, France
    Dis Colon Rectum 50:1612-7. 2007
    ..This study was designed to establish the prevalence of germ-line MYH mutations in a series of 56 consecutive patients with no detectable APC mutation and describe the phenotype of those with MYH mutations...
  59. ncbi request reprint Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus
    Pierre Vabres
    Lancet 359:1861-2. 2002
  60. ncbi request reprint Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome
    Pascale Saugier-Veber
    Department of Genetics, Rouen University Hospital, University of Rouen, Rouen, France
    Hum Mutat 28:1098-107. 2007
    ....
  61. pmc USH1A: chronicle of a slow death
    Sylvie Gerber
    Am J Hum Genet 78:357-9. 2006
  62. pmc Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
    Corinne Stoetzel
    Laboratoire de Genetique Medicale, Faculte de Medecine, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Am J Hum Genet 80:1-11. 2007
    ....
  63. ncbi request reprint [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]
    Helene Dollfus
    Laboratoire de génétique médicale EA3949, Faculte de Medecine, Universite Louis Pasteur, Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, Avenue Moliere, 67098 Strasbourg Cedex, France
    Med Sci (Paris) 22:901-4. 2006
  64. ncbi request reprint External and internal geometry of European adults
    Samuel Bertrand
    Laboratoire de Biomécanique LBM, ENSAM, CNRS UMR 8005, 151 bd de l Hopital, 75013 Paris, France
    Ergonomics 49:1547-64. 2006
    ..This study resulted in a unique geometrical database enabling improvement for numerical models of the human body for crash test simulation and offering numerous possibilities in the anthropometry field...
  65. ncbi request reprint BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
    Corinne Stoetzel
    EA Laboratoire de Génétique Médicale, Faculte de Medecine, Universite Louis Pasteur, 11 rue Humann, 67000 Strasbourg, France
    J Hum Genet 51:81-4. 2006
    ..Two of the three families have homozygous mutations and one has a heterozygous mutation. Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions...
  66. ncbi request reprint Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
    David Baux
    Centre Hospitalier Universitaire CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 28:781-9. 2007
    ..We have identified a previously unrecognized cysteine rich structural domain, containing 12 dicysteine repeats, and show that three missense mutations result in the loss of one of a pair of the defining cysteine-cysteine pairs...
  67. ncbi request reprint Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
    Dominique Bremond-Gignac
    Department of Ophthalmology, Robert Debre Hospital, AP HP, Paris, France
    Eur J Hum Genet 13:409-13. 2005
    ..Molecular and follow-up data on the original WAGRO case are briefly presented...
  68. ncbi request reprint Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia
    Dominique Bonneau
    Am J Med Genet A 131:204. 2004
  69. ncbi request reprint BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
    Corinne Stoetzel
    Laboratoire de Génétique Médicale EA 3949, Faculté de médecine de Strasbourg, Universite Louis Pasteur, 67085 Strasbourg, France
    Nat Genet 38:521-4. 2006
    ..In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants...
  70. ncbi request reprint Allelic loss on chromosomes 2q21 and 19p 13.2 in oxyphilic thyroid tumors
    Karmen Stankov
    Dipartimento di Medicina Interna, Cardioangiologia ed Epatologia, Unita Operativa di Genetica Medica, Policlinico S Orsola Malpighi, Bologna, Italy
    Int J Cancer 111:463-7. 2004
    ..This led to the exclusion of linkage with the NMTC1 locus and to the refutation of the digenic inheritance hypothesis at least in this family...
  71. ncbi request reprint Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families
    Louis Viollet
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U393 Hôpital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Eur J Hum Genet 12:483-8. 2004
    ..Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations...
  72. ncbi request reprint Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Nat Genet 38:294-6. 2006
    ....
  73. pmc Eight previously unidentified mutations found in the OA1 ocular albinism gene
    Hélène Mayeur
    EA no 2502 du ministère de la Recherche, de l Enseignement Supérieur et la Technologie, Centre de Recherches Thérapeutiques en Ophtalmologie, Universite Rene Descartes Paris V, Faculté de Médecine René Descartes Site Necker, Paris, France
    BMC Med Genet 7:41. 2006
    ..This disease is primarily caused by mutations in the OA1 gene...
  74. ncbi request reprint Retinal angioma in a patient with Cowden disease
    Jean Jacques Gicquel
    Department of Ophthalmology, CHU Jean Bernard, Poitiers, France
    Am J Ophthalmol 135:400-2. 2003
    ..To report a rare case of ocular localization of Cowden disease...
  75. ncbi request reprint Decrease in serum leptin after prolonged physical activity in men
    Danielle Gomez-Merino
    Department of Physiology, IMASSA CERMA, Bretigny sur Orge, France
    Med Sci Sports Exerc 34:1594-9. 2002
    ..This study was designed to determine whether serum leptin levels were affected by a 5-d military course after 3 wk of combat training...