L Faivre

Summary

Affiliation: CHU de Dijon
Country: France

Publications

  1. pmc Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
    L Faivre
    Centre de Genetique, Centre Hospitalier Universitaire, Dijon, France
    Am J Hum Genet 81:454-66. 2007
  2. ncbi request reprint Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism
    Laurence Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 126:308-12. 2004
  3. pmc Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
    Ana Teresa Maia
    Cambridge Research Institute CRUK, Li Ka Shing Centre, Cancer Research UK, Robinson Way, Cambridge, CB2 0RE, UK
    Breast Cancer Res 14:R63. 2012
  4. doi request reprint The new Ghent criteria for Marfan syndrome: what do they change?
    L Faivre
    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Dijon, France
    Clin Genet 81:433-42. 2012
  5. pmc Molecular study of the perforin gene in familial hematological malignancies
    Rim El Abed
    Département d oncologie génétique, de Prévention et Dépistage, Institut Paoli Calmettes, 232 Boulevard Sainte Marguerite, Marseille, 13009, France
    Hered Cancer Clin Pract 9:9. 2011
  6. ncbi request reprint Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation
    Laurence Faivre
    Centre de Genetique Medicale, Hôpital d Enfants, Dijon, France
    Eur J Hum Genet 13:1186-91. 2005
  7. doi request reprint De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
    Laurence Faivre
    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d Enfants, CHU Dijon, Universite de Bourgogne, Dijon F 21000, France
    Eur J Med Genet 53:208-12. 2010
  8. doi request reprint Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
    L Faivre
    Centre de Genetique, CHU Dijon, Dijon, France
    Am J Med Genet A 149:854-60. 2009
  9. ncbi request reprint Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene
    Laurence Faivre
    Centre de Genetique Medicale, Hôpital d Enfants, Dijon, France
    Prenat Diagn 24:393-5. 2004
  10. ncbi request reprint Should chromosome breakage studies be performed in patients with VACTERL association?
    Laurence Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 137:55-8. 2005

Detail Information

Publications75

  1. pmc Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
    L Faivre
    Centre de Genetique, Centre Hospitalier Universitaire, Dijon, France
    Am J Hum Genet 81:454-66. 2007
    ..Exon 24-32 mutations define a high-risk group for cardiac manifestations associated with severe prognosis at all ages...
  2. ncbi request reprint Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism
    Laurence Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 126:308-12. 2004
    ....
  3. pmc Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
    Ana Teresa Maia
    Cambridge Research Institute CRUK, Li Ka Shing Centre, Cancer Research UK, Robinson Way, Cambridge, CB2 0RE, UK
    Breast Cancer Res 14:R63. 2012
    ..We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism...
  4. doi request reprint The new Ghent criteria for Marfan syndrome: what do they change?
    L Faivre
    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Dijon, France
    Clin Genet 81:433-42. 2012
    ..Diagnostic criteria should be a flexible and dynamic tool so that reclassification of patients with alternative diagnosis is possible, requiring regular clinical and aortic follow-up...
  5. pmc Molecular study of the perforin gene in familial hematological malignancies
    Rim El Abed
    Département d oncologie génétique, de Prévention et Dépistage, Institut Paoli Calmettes, 232 Boulevard Sainte Marguerite, Marseille, 13009, France
    Hered Cancer Clin Pract 9:9. 2011
    ..However, overexpression of mutated PRF1 in rat basophilic leukemia cells did not affect the lytic function of perforin differently from the wild type protein...
  6. ncbi request reprint Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation
    Laurence Faivre
    Centre de Genetique Medicale, Hôpital d Enfants, Dijon, France
    Eur J Hum Genet 13:1186-91. 2005
    ....
  7. doi request reprint De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
    Laurence Faivre
    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d Enfants, CHU Dijon, Universite de Bourgogne, Dijon F 21000, France
    Eur J Med Genet 53:208-12. 2010
    ..Phenotypic variability in other patients with interstitial deletions including 15q21.1 band may reflect differences in deletion size and/or cys/trans modifying factors...
  8. doi request reprint Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
    L Faivre
    Centre de Genetique, CHU Dijon, Dijon, France
    Am J Med Genet A 149:854-60. 2009
    ..Using strict definitions, we conclude that patients with FBN1 mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort...
  9. ncbi request reprint Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene
    Laurence Faivre
    Centre de Genetique Medicale, Hôpital d Enfants, Dijon, France
    Prenat Diagn 24:393-5. 2004
    ..It also confirms that the overgrowth is of prenatal onset in those observations...
  10. ncbi request reprint Should chromosome breakage studies be performed in patients with VACTERL association?
    Laurence Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 137:55-8. 2005
    ....
  11. ncbi request reprint High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries
    Laurence Faivre
    Centre de Genetique Medicale, Hôpital d Enfants, Dijon, France
    Haematologica 91:530-3. 2006
    ..Pregnancies in DBA-affected women are at high risk, especially for complications likely to be of vascular-placental origin. Careful monitoring with prevention of severe anemia and early introduction of aspirin is suggested...
  12. ncbi request reprint Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother
    Laurence Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 140:636-9. 2006
  13. pmc Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
    L Faivre
    Centre de Genetique, CHU, Dijon, France
    Eur J Hum Genet 17:491-501. 2009
    ..In conclusion, even if the exons 24-32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant...
  14. doi request reprint Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
    Laurence Faivre
    Genetic Center, Centre Hospitalier Universitaire Dijon, Dijon, France
    Pediatrics 123:391-8. 2009
    ....
  15. ncbi request reprint Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
    A L Mosca
    Département de génétique, CHU Le Bocage, Dijon, France
    Am J Med Genet A 149:475-81. 2009
    ..This case is of interest in the search for candidate genes and emphasizes the importance of the 22q11 region in PMG. It also highlights the efficiency of BACs-array in detecting complex rearrangements...
  16. doi request reprint Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
    P Callier
    Département de génétique, Hopital Le Bocage, Dijon, France
    Am J Med Genet A 146:2109-15. 2008
    ..This observation is of interest since it could be a clue in the search for the genes responsible for Goldenhar syndrome. This study demonstrates the utility of the array-CGH technology in detecting interstitial deletions...
  17. doi request reprint Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis
    C Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, CHU, Dijon, France
    Am J Med Genet A 158:1735-41. 2012
    ..This widely accepted nomenclature would improve the reporting of the molecular defect observed in SMA patients and thus would avoid the commonly used but imprecise terminology "absence of SMN1 exon 7."..
  18. ncbi request reprint Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation
    C Thauvin-Robinet
    Département de génétique, Hôpital d Enfants, Dijon, France
    Prenat Diagn 27:555-9. 2007
    ..Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele...
  19. ncbi request reprint Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly
    C Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Prenat Diagn 21:466-70. 2001
    ..Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly...
  20. doi request reprint Written information to patients in clinical genetics: what's the impact?
    C Cassini
    Centre de Génétique et Centre de Référence Maladies Rares Anomalies du développement et Syndromes Malformatifs, Hôpital d Enfants, CHU du Bocage Dijon, France
    Eur J Med Genet 54:277-80. 2011
    ..Finally, 58% would have preferred a letter sent specifically to them rather than a copy, and suggestions for the contents of such a letter should be further studied...
  21. doi request reprint What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
    F Coron
    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d Enfants, CHU Dijon et Université de Bourgogne, Dijon, France
    Prenat Diagn 32:1318-23. 2012
    ..Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices...
  22. ncbi request reprint Delineation of 15q13.3 microdeletions
    A Masurel-Paulet
    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d Enfants, CHU, Dijon
    Clin Genet 78:149-61. 2010
    ..Besides the classical approximately 1.5 Mb BP4-BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene...
  23. ncbi request reprint Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization
    P Callier
    Département de génétique, CHU Le Bocage, Dijon, France
    Am J Med Genet A 140:1859-63. 2006
    ..The description of additional cases would be useful in order to better characterize the phenotype of patients with proximal interstitial 20q deletion...
  24. doi request reprint The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
    C Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, 10, Bd Maréchal de Lattre de Tassigny, BP 77 908, 21079 Dijon Cedex, France
    J Med Genet 46:752-8. 2009
    ..The high frequency of R117H observed in CF newborn screening has also introduced diagnostic dilemmas. The aim of this study was to evaluate the disease penetrance for R117H in order to improve clinical practice...
  25. doi request reprint The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum
    C Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, 10 bd Maréchal de Lattre de Tassigny, 21034 Dijon Cedex, France
    J Neurol Neurosurg Psychiatry 79:725-8. 2008
    ..Clinical features, including systemic, haematological and neurological abnormalities, usually occur in the first year of life. Adolescent and adult onset presentations are rare...
  26. ncbi request reprint Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
    P Callier
    Département de génétique, Laboratoire de Cytogenetique, CHU Le Bocage, Boulevard Marechal de Lattre de Tassigny 2, Dijon 21034, France
    Am J Med Genet A 137:204-7. 2005
    ..This case is compared with the other of MVA syndrome previously reported in literature. From this case report, we suggest that microcephaly is not mandatory for the diagnosis of MVA syndrome...
  27. ncbi request reprint Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition
    C Thauvin-Robinet
    Centre de Genetique, CHU, Dijon, France
    J Inherit Metab Dis 27:700-4. 2004
  28. ncbi request reprint Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
    P Callier
    Laboratoire de Cytogenetique, Département de génétique, CHU Le Bocage, 2 bd Marechal de Lattre de tassigny, 21034 Dijon Cedex, France
    Eur J Med Genet 50:455-64. 2007
    ..Second, it shows the importance of molecular cytogenetics in the study of de novo apparently balanced translocation with abnormal phenotype...
  29. ncbi request reprint Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH
    Alice Masurel-Paulet
    Centre de Génétique et Centre de Référence Maladies Rares Anomalies du développement et Syndromes Malformatifs, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 149:1504-10. 2009
    ..We suggest that a chromosomal rearrangement should be ruled out when such corpus callosum lesions are identified...
  30. ncbi request reprint 3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors
    Laurent Benoit
    Department of Digestive Surgery, CHU du Bocage, Dijon, France
    J Clin Gastroenterol 41:297-300. 2007
    ..This family report shows that a molecular analysis of the APC gene should be performed in familial desmoid tumors for accurate genetic counseling and follow-up...
  31. ncbi request reprint Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome
    Thierry Rousseau
    Clinique Gynécologique et Obstétricale, Centre Hospitalier Universitaire, Dijon, France
    Prenat Diagn 22:692-6. 2002
    ..Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome...
  32. doi request reprint Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing
    Christel Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, CHU Dijon, France
    Hum Mutat 30:E320-9. 2009
    ....
  33. ncbi request reprint Prenatal diagnosis of Juberg-Hayward syndrome
    Stéphanie Couvreur-Lionnais
    Clinique Gynécologique et Obstétricale, Centre Hospitalier Universitaire, Dijon, France
    Prenat Diagn 25:172-5. 2005
    ..We conclude that the diagnosis of Juberg-Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate...
  34. ncbi request reprint Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
    N Marle
    Département de génétique, Hopital Le Bocage, Universite de Bourgogne, Dijon, France
    Clin Genet 85:233-44. 2014
    ..0006) and number of genes (more or less than 10, p = 0.0009). This study is the largest to date and shows the utility of array-CGH or SNP array in the detection and characterization of de novo sSMC in a prenatal context...
  35. doi request reprint Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
    S Saal
    Centre de Genetique, Hôpital d Enfants, CHU Dijon, France
    Clin Genet 77:258-65. 2010
    ..These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow-up is therefore highly recommended for all OFD I patients...
  36. doi request reprint [Genetic testing in asymptomatic minors: a survey among French geneticists]
    L Joly
    Centre de Génétique et Centre de Référence Maladies Rares Anomalies du développement et Syndromes Malformatifs, Hôpital d Enfants, CHU de Dijon, 10 boulevard Maréchal de Lattre de Tassigny, Dijon Cedex, France
    Arch Pediatr 17:1000-7. 2010
    ....
  37. doi request reprint Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome
    Agnès Atale
    Service de pédiatrie 1, Hôpital d Enfants, Dijon Cedex, France
    Eur J Med Genet 52:23-6. 2009
    ..In conclusion, Pearson syndrome should be screened for in children presenting with the association of growth retardation, anaemia/pancytopaenia, lactic acidosis and tubulopathy, even in the absence of exocrine pancreatic deficiency...
  38. ncbi request reprint Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq
    Christel Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 126:303-7. 2004
    ..We hypothesize that another gene, expressed early in embryogenesis and responsible for cloacal exstrophy, is present in the 9q34.1-qter region...
  39. ncbi request reprint A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders
    Marina Colombani
    Département de génétique, Hôpital d Enfants, Dijon, France
    Prenat Diagn 26:1151-5. 2006
    ..We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester...
  40. ncbi request reprint Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
    Salima El Chehadeh
    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d Enfants, CHU Dijon, Université de Dijon, France
    J Med Genet 47:549-53. 2010
    ....
  41. ncbi request reprint Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis
    Christel Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Prenat Diagn 22:710-4. 2002
    ..This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD...
  42. doi request reprint Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
    P Callier
    Service de Cytogénétique, Plateau Technique de Biologie, CHU, Dijon, France Equipe GAD, EA 4271, Universite de Bourgogne, Dijon, France
    Clin Genet 84:507-21. 2013
    ..The excess of males is in favour of the involvement of other X-linked genes. Although it was impossible to make a diagnosis in 80% of patients, these results will improve genetic counselling in families. ..
  43. ncbi request reprint Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome
    L Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet 99:132-6. 2001
    ..Based on the clinical overlap between the two syndromes, we tested the GNAS1 gene in blood leukocytes and skin fibroblasts of Patient 1, but found no evidence of an activating mutation in the GNAS1 gene...
  44. ncbi request reprint A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome
    Marina Colombani
    Département de génétique, Hôpital d Enfants, 10, Bd Maréchal de Lattre de Tassigny, 21034 Dijon Cedex, France
    Eur J Med Genet 49:466-71. 2006
    ..The mode of inheritance of this syndrome remains unknown since there was no significant family history in all reported cases. The search for infracytogenetic chromosomal imbalance was unsuccessful...
  45. ncbi request reprint Another observation with VATER association and a complex IV respiratory chain deficiency
    Christel Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Eur J Med Genet 49:71-7. 2006
    ..The association of VATER phenotype with a mitochondrial disorder may be coincidental but could also suggest that the presence of multiple malformations is the result of the antenatal expression of RCD...
  46. ncbi request reprint Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?
    Anne Laure Mosca
    Département de génétique, Faculté de Médecine et CHU de Dijon, Dijon, France
    Eur J Med Genet 50:48-53. 2007
    ..Consequently, the reported features in this child are unique and are likely to represent a new syndrome...
  47. ncbi request reprint GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients
    Sandrine Marlin
    Unite de Genetique Medicale, INSERM U587, Hopital d Enfants Armand Trousseau, AP HP, Universite Paris VI, Paris, France
    Arch Otolaryngol Head Neck Surg 131:481-7. 2005
    ..To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with DFNB1...
  48. ncbi request reprint Unique survival in chrondrodysplasia-hermaphrodism syndrome
    Christel Thauvin-Robinet
    Am J Med Genet A 132:335-7. 2005
  49. ncbi request reprint Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
    Joyce So
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 132:1-7. 2005
    ..This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports...
  50. pmc ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
    Nathalie Dagoneau
    Department of Genetics and INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 75:801-6. 2004
    ..We conclude, therefore, that ADAMTS10 plays a major role in growth and in skin, lens, and heart development in humans...
  51. ncbi request reprint Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
    Claire L Navarro
    INSERM U491, Génétique Médicale et Développement, Faculte de Medecine de Marseille, Hopital d Enfants de la Timone, Marseille, France
    Hum Mol Genet 13:2493-503. 2004
    ..RD is thus one of the most deleterious laminopathies identified so far in humans caused by (primary or secondary) A-type Lamin defects and nuclear structural and functional alterations...
  52. ncbi request reprint Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations
    Laurence Faivre
    Département de génétique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Am J Med Genet A 124:48-53. 2004
    ..We conclude that characteristic hand abnormalities are not mandatory for the diagnosis of Desbuquois dysplasia...
  53. ncbi request reprint Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
    Laurence Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Am J Med Genet A 123:204-7. 2003
    ..010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS...
  54. ncbi request reprint Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature
    Laurence Faivre
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 10:699-706. 2002
    ..Moreover, it further delineates a specific phenotype related to trisomy 15q26.1-qter with macrosomia at birth, overgrowth, macrocephaly and mild developmental delay being the major clinical features...
  55. ncbi request reprint Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2
    Laurence Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Hum Genet 110:366-70. 2002
    ..4 cM). We hope that our ongoing studies will lead to the identification of the disease-causing gene...
  56. pmc The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
    Lekbir Baala
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:186-94. 2007
    ..No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3...
  57. ncbi request reprint Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance
    Geraldine Viot
    Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 107:1-4. 2002
    ..This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance...
  58. ncbi request reprint Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity
    Frederic Caux
    Service de Dermatologie, Hôpital Avicenne and ERI 18, Universite Paris 13, Bobigny, France
    Eur J Hum Genet 15:767-73. 2007
    ....
  59. ncbi request reprint Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?
    Christel Thauvin-Robinet
    Eur J Med Genet 50:85-91. 2007
    ..Common features include segmentation abnormalities of the vertebrae and ribs. Here, we report on a fetal case with spondylocostal dysostosis, anal and genitourinary malformations and discuss Casamassima-Morton-Nance syndrome...
  60. ncbi request reprint Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie Dupuis-Girod
    Unité d Immunologie et d Hé matologie pédiatriques, Hopital Necker Enfants Malades, Paris, France
    Pediatrics 109:e97. 2002
    ..In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females...
  61. ncbi request reprint Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14
    Stephan Klebe
    Arch Neurol 64:913-4. 2007
  62. ncbi request reprint Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
    Christel Thauvin-Robinet
    Am J Med Genet A 119:81-4. 2003
  63. ncbi request reprint Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip
    Marianne Leveque
    INSERM U587, Pasteur Institute, Paris, France
    Eur J Hum Genet 15:1145-55. 2007
    ..These results indicate that the new MitoChip platform is a rapid and valuable tool for identification of new mtDNA mutations in deafness...
  64. ncbi request reprint Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients
    Laurence Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Am J Med Genet A 124:54-9. 2004
    ..Our study emphasizes the care of older patients with Desbuquois dysplasia...
  65. pmc Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
    Cynthia F Bartels
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Am J Hum Genet 75:27-34. 2004
    ..We conclude that, although NPR-B is expressed in a number of tissues, its major role is in the regulation of skeletal growth...
  66. ncbi request reprint The Rapp-Hodgkin syndrome results from mutations of the TP63 gene
    Gaelle Bougeard
    INSERM EMI 9906 IFRMP, Faculty of Medicine and Pharmacy, 22 Boulevard Gambetta, 76183 Rouen, France
    Eur J Hum Genet 11:700-4. 2003
    ..This report shows, on a molecular basis, that RHS is also an EEC-like syndrome resulting from mutations of the TP63 gene, and highlights the wide phenotypic spectrum associated to TP63 mutations...
  67. ncbi request reprint Clinical and genetic heterogeneity in Desbuquois dysplasia
    Laurence Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Am J Med Genet A 128:29-32. 2004
    ..3 region. These results allow us to exclude this region as the locus in Desbuquois families with no hand anomalies and demonstrate genetic heterogeneity. Ongoing studies will hopefully lead to the identification of the responsible genes...
  68. ncbi request reprint X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families
    Jörg Fiedler
    University of Ulm, Department of Orthopedics, Division for Biochemistry of Joint and Connective Tissue Diseases, Germany
    Hum Mutat 24:103. 2004
    ..All sequence variations identified are either deletions of complete exons or predicted to result in a premature stop codon or to lead into splicing defects and are associated with a loss of considerable parts of the sedlin protein...
  69. ncbi request reprint Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer-Rokitansky-Kuster-Hauser syndrome
    Marina Colombani
    Acta Paediatr 96:1371-2. 2007
  70. ncbi request reprint A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2
    Melissa Yana Frederic
    INSERM, U 827, Montpellier, F 34000, France
    Hum Mutat 29:33-8. 2008
    ..The database is accessible online at http://www.umd.be (last accessed: 3 July 2007)...
  71. ncbi request reprint [Recommendations for the medical management of aortic complications of Marfan's syndrome]
    Guillaume Jondeau
    Hopital Ambroise Pare, Boulogne
    Arch Mal Coeur Vaiss 99:540-6. 2006
  72. ncbi request reprint A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis
    Anne Donzel-Javouhey
    Am J Med Genet A 140:1603-7. 2006
  73. pmc Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
    Stephan M Tanner
    Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA
    Proc Natl Acad Sci U S A 102:4130-3. 2005
    ..In the diagnosis of juvenile cobalamin deficiency, mutational analysis of the CUBN, AMN, and GIF genes provides a molecular characterization of the underlying defect and may be the diagnostic method of choice...
  74. ncbi request reprint Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients
    Gaetan Lesca
    Service de Génétique Moléculaire et Médicale, Hopital Edouard Herriot, Lyon, France
    Hum Mutat 27:598. 2006
    ..Our results also emphasize the higher prevalence of large insertions/deletions in ENG and the predominance of ACVRL1 over ENG mutations...
  75. 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...