Genomes and Genes
Affiliation: Centre Hospitalier Universitaire
- 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...
- Dominant optic atrophyGuy 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...
- Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respirationClaire Angebault
INSERM U771, Angers 49000, France
BMC Res Notes 4:557. 2011..Leber's hereditary optic neuropathy (LHON) is caused by mutations in the complex I subunits of the respiratory chain. Although patients have been treated with idebenone since 1992, the efficacy of the drug is still a matter of debate...
- X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findingsDominique Bonneau
Service de Genetique Medicale, Centre Hospitalier Universitaire d Angers, Angers, France
Ann Neurol 51:340-9. 2002....
- [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....
- [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...
- [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...
- Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicityVirginie 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...
- OPA1-associated disorders: phenotypes and pathophysiologyPatrizia 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...
- Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A diseaseVirginie 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...
- Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud 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...
- 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...
- Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc 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...
- [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....
- Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutationVirginie 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...
- Genetically determined optic neuropathiesDan 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...
- A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2KJulien 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...
- Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical dataMarc Ferre
CNRS 6214 INSERM 1083, Angers University, Angers, France Department of Biochemistry and Genetics, University Hospital, Angers, France
Hum Mutat 36:20-5. 2015..The updated OPA1 LSDB (http://opa1.mitodyn.org/) should prove useful for molecular diagnoses, large-scale variant statistics, and genotype-phenotype correlations in ADOA studies. ..
- OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao De La Barca
Centre Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France UMR CNRS 6214 Inserm 1083, Universite d Angers, Angers, France
Neurobiol Dis 90:20-6. 2016..Thus, OPA1-related disorders may serve as a paradigm in the wider context of neurodegenerative syndromes, particularly for the development of novel therapeutic strategies against these diseases. ..
- The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular modelSamuel Frey
UMR CNRS 6214 INSERM U1083, Mitovasc Institute, Angers University, Angers, France
Biochim Biophys Acta 1863:284-291. 2017..Therefore KB may constitute an alternative and promising therapy for MELAS syndrome, and could be beneficial for other mitochondrial diseases caused by complex I deficiency...
- 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...
- Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELASValérie 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...
- Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathyCédric 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...
- The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stressJuan Manuel Chao De La Barca
1 PREMMi Pôle de Recherche et d Enseignement en Médecine Mitochondriale, Institut MITOVASC, CNRS 6214, INSERM U1083, Universite d Angers, Angers, France 2 Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France
Brain . 2016....
- Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutationsPhilippe Codron
PREMMi Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083, Universite d Angers, CHU d Angers, Angers, France
J Peripher Nerv Syst 21:365-369. 2016..Such alterations could be useful biomarkers helping to distinguish MFN2 mutations from variants, a growing challenge with the advent of next generation sequencing into routine clinical practice...
- Evaluation of the colorectal cancer risk conferred by rare UNC5C allelesSebastien 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)...
- Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXELudovic 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....
- OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesPatrizia 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...
- Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasiaAnouck 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...
- Arithmetic word-problem-solving in Huntington's diseasePhilippe 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...
- The neural substrates of script knowledge deficits as revealed by a PET study in Huntington's diseasePhilippe 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...
- Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: implication for neonatal screening of congenital adrenal hyperplasiaFrédérique 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...
- The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 genePatrizia 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...
- [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...
- [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...
- Endocrine function in a 48,XXYY adult with type 2 diabetes: case report with a review of the literatureS 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...
- Cognitive changes in asymptomatic carriers of the Huntington disease mutation geneC 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....
- Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiencyGéraldine Leman
Angers University, Angers, France UMR CNRS 6214 INSERM U1083, Angers F 49000, France
Int J Biochem Cell Biol 65:91-103. 2015..Moreover, these data suggest that the use of antioxidants may be particularly relevant for patients displaying a CI assembly defect. ..
- Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndromeIsabelle 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...
- A gene for Leber's congenital amaurosis maps to chromosome 17pA 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...
- Dermatologic features of Smith-Magenis syndromeMorgane Guerin-Moreau
Department of Dermatology, University Hospital of Angers, Angers, France
Pediatr Dermatol 32:337-41. 2015..It remains to be determined whether the combination of the two kinds of signs could contribute to early diagnosis of the syndrome. ..
- A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test resultsFabrice 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...
- Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literatureEdouard 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...
- Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A diseaseDominique 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...
- Perrault syndrome: report of four new cases, review and exclusion of candidate genesSandrine 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...
- Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected familyEstelle 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...
- No evidence of genetic heterogeneity in dominant optic atrophyD 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...
- Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophyC Verny
Departement de Neurologie, Centre Hospitalier Universitaire, INSERM U694, Angers, France
Neurology 70:1152-3. 2008
- Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin
Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France UMR CNRS 6214 INSERM 1083 and PREMMI, University of Angers, 49933 Angers Cedex 9, France
Am J Hum Genet 99:695-703. 2016..These clinical, biochemical, and experimental findings support our finding of UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation. ..
- Refsum's disease may mimic familial Guillain Barre syndromeChristophe 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....
- Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2Agnes Guichet
Service de Genetique Medicale, CHU Angers, France
Prenat Diagn 24:828-32. 2004....
- X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusP 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...
- Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitisC Verny
Departement de Neurologie, Centre Hospitalier Universitaire, 49033 Angers, France
Diabetes Metab 34:620-6. 2008....
- Genetic heterogeneity of Usher syndrome type 1 in French familiesD 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)..
- Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophyOlivier 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...
- Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasiaMarie Claire Vincent
Arch Dermatol 138:1256-8. 2002
- Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato
Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
Hum Mutat 23:147-59. 2004....
- Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa 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...
- OPA1 R445H mutation in optic atrophy associated with sensorineural deafnessPatrizia 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...
- Schimke immunoosseous dysplasia: suggestions of genetic diversityJ 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...
- Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelismVirginie 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....
- Mitochondrial dynamics and disease, OPA1Aurelien 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...
- Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristicsGuillaume 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...
- Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation familyBruno Mortemousque
Service d Ophtalmologie, Centre Hospitalier et Universitaire Bordeaux, Bordeaux, France
Arch Ophthalmol 122:1527-33. 2004....
- Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesisAurelien Olichon
Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération, Universite Paul Sabatier, Toulouse, France
J Cell Physiol 211:423-30. 2007....
- Reversible optic neuropathy with OPA1 exon 5b mutationKaren 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...
- Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel
Laboratoire de Genetique Medicale, Faculte de Medecine, Hopitaux Universitaires de Strasbourg, Strasbourg, France
Am J Hum Genet 80:1-11. 2007....
- [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
- External and internal geometry of European adultsSamuel 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...
- Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid 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...
- Decrease in serum leptin after prolonged physical activity in menDanielle 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...
- Retinal angioma in a patient with Cowden diseaseJean 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...
- BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome familiesCorinne 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...
- Heterogeneity of NSD1 alterations in 116 patients with Sotos syndromePascale Saugier-Veber
Department of Genetics, Rouen University Hospital, University of Rouen, Rouen, France
Hum Mutat 28:1098-107. 2007....
- USH1A: chronicle of a slow deathSylvie Gerber
Am J Hum Genet 78:357-9. 2006
- Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeTetsuya Niihori
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Nat Genet 38:294-6. 2006....
- Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletionDominique 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...
- Eight previously unidentified mutations found in the OA1 ocular albinism geneHélène 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...
- Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresiaDominique Bonneau
Am J Med Genet A 131:204. 2004
- BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne 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...
- Allelic loss on chromosomes 2q21 and 19p 13.2 in oxyphilic thyroid tumorsKarmen 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...
- Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis 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...
- Microchimerism from a dizygotic twin in juvenile ulcerative lichen planusPierre Vabres
Lancet 359:1861-2. 2002