Stanislas Lyonnet

Summary

Country: France

Publications

  1. pmc CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
    Ennio Del Giudice
    Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy
    Orphanet J Rare Dis 9:74. 2014
  2. pmc Pathways systematically associated to Hirschsprung's disease
    Raquel M Fernandez
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville IBIS, University Hospital Virgen del Rocío CSIC University of Seville, Av, Manuel Siurot s n, Seville, 41013, Spain
    Orphanet J Rare Dis 8:187. 2013
  3. pmc Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease
    Anne Sophie Jannot
    INSERM U 781, AP HP Hôpital Necker Enfants Malades, Paris, France
    PLoS ONE 8:e62519. 2013
  4. pmc Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling
    Mathieu Clément-Ziza
    Institut Curie, Département de Transfert, 26 Rue d Ulm, F 75248, Paris Cedex 05, France
    BMC Genomics 10:246. 2009
  5. pmc Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
    Loic de Pontual
    Unité INSERM U 781, Universite Paris Descartes, Paris, France
    Nat Genet 43:1026-30. 2011
  6. ncbi request reprint Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction
    Delphine Trochet
    Universite Paris Descartes, Faculté de Médecine INSERM AP HP, Hopital Necker Enfants Malades, INSERM U 393, Paris, France
    Hum Mol Genet 14:3697-708. 2005
  7. ncbi request reprint In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation
    Delphine Trochet
    INSERM U781 et Département de Génétique, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Hum Mutat 30:E421-31. 2009
  8. pmc Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    Jeanne Amiel
    From the Departments of Genetics, Pediatric Radiology and INSERM U 797, Universite Paris Descartes, Faculte de Medecine, Hopitaux de Paris, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:988-93. 2007
  9. ncbi request reprint New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation
    Caroline Schluth
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet A 146:93-6. 2008
  10. pmc Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia
    Simonetta Bandiera
    INSERM U781 Hôpital Necker Enfants Malades, Université Paris Descartes Sorbonne Cité, Institut Imagine, Paris, France
    PLoS ONE 8:e54791. 2013

Detail Information

Publications61

  1. pmc CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
    Ennio Del Giudice
    Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy
    Orphanet J Rare Dis 9:74. 2014
    ..With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder...
  2. pmc Pathways systematically associated to Hirschsprung's disease
    Raquel M Fernandez
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville IBIS, University Hospital Virgen del Rocío CSIC University of Seville, Av, Manuel Siurot s n, Seville, 41013, Spain
    Orphanet J Rare Dis 8:187. 2013
    ..These observations would also explain the reported low reproducibility of associations of individual disease genes across populations. ..
  3. pmc Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease
    Anne Sophie Jannot
    INSERM U 781, AP HP Hôpital Necker Enfants Malades, Paris, France
    PLoS ONE 8:e62519. 2013
    ..This study further ascertains the chromosome-scan dose-dependent methodology used herein as a mean to map the genetic bases of other sub-phenotypes both in Down syndrome and other aneuploidies...
  4. pmc Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling
    Mathieu Clément-Ziza
    Institut Curie, Département de Transfert, 26 Rue d Ulm, F 75248, Paris Cedex 05, France
    BMC Genomics 10:246. 2009
    ..To address this issue, RNA amplification methods have been developed to generate sufficient targets from picogram amounts of total RNA to perform microarray hybridisation...
  5. pmc Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
    Loic de Pontual
    Unité INSERM U 781, Universite Paris Descartes, Paris, France
    Nat Genet 43:1026-30. 2011
    ..These findings identify a regulatory function for miR-17∼92 in growth and skeletal development and represent the first example of an miRNA gene responsible for a syndromic developmental defect in humans...
  6. ncbi request reprint Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction
    Delphine Trochet
    Universite Paris Descartes, Faculté de Médecine INSERM AP HP, Hopital Necker Enfants Malades, INSERM U 393, Paris, France
    Hum Mol Genet 14:3697-708. 2005
    ..Such a tendency to protein misfolding could explain loss of transactivation for alanine expansion mutations. However, additional mechanisms such as toxic gain-of-function may play a role in the pathogenic process...
  7. ncbi request reprint In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation
    Delphine Trochet
    INSERM U781 et Département de Génétique, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Hum Mutat 30:E421-31. 2009
    ..Therefore, PHOX2B misfolding is not the only mechanism leading to dysfunction of the ventilatory autonomic system...
  8. pmc Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    Jeanne Amiel
    From the Departments of Genetics, Pediatric Radiology and INSERM U 797, Universite Paris Descartes, Faculte de Medecine, Hopitaux de Paris, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:988-93. 2007
    ..Moreover, our data may shed new light on the normal processes underlying autonomic nervous system development and maintenance of an appropriate ventilatory neuronal circuitry...
  9. ncbi request reprint New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation
    Caroline Schluth
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet A 146:93-6. 2008
    ..We compared this new case with previous observations of 12q deletions in order to propose phenotype-karyotype correlations...
  10. pmc Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia
    Simonetta Bandiera
    INSERM U781 Hôpital Necker Enfants Malades, Université Paris Descartes Sorbonne Cité, Institut Imagine, Paris, France
    PLoS ONE 8:e54791. 2013
    ..We propose that the involvement of miRNAs in a FRDA-specific regulation of frataxin may provide a rationale to increase residual levels of frataxin through miRNA-inhibitory molecules...
  11. ncbi request reprint Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)
    Delphine Trochet
    Université Paris 5 Descartes, INSERM U 781, AP HP, Hopital Necker Enfant Malades, Paris, France
    Hum Mutat 29:770. 2008
    ..This observation adds the concept of mutational threshold per se to the discussion about dominant and recessive alleles...
  12. ncbi request reprint Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online
    Rana Khaddour
    INSERM U 781, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Hum Mutat 28:523-4. 2007
    ..4050 years) ago. We also identified a common MKS3 splice-site mutation, c.1575+1G>A, in five Pakistani sibships of three unrelated families of Mirpuri origin, with an estimated age-of-mutation of 5 generations (125 years)...
  13. pmc PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome
    Delphine Trochet
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 76:421-6. 2005
    ..These data further highlight the link between congenital malformations and tumor predisposition when a master gene in development is mutated...
  14. ncbi request reprint Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
    Mireille Castanet
    INSERM U457, Hopital Robert Debre, Paris, France
    Eur J Hum Genet 13:232-9. 2005
    ..In conclusion, the present study demonstrates genetic heterogeneity in the TD disorder and suggests the involvement of novel genes...
  15. ncbi request reprint Cholinergic switch associated with morphological differentiation in neuroblastoma
    Franck Bourdeaut
    INSERM U830, Institut Curie, Génétique et biologie des Cancers, Paris, France
    J Pathol 219:463-72. 2009
    ..This switch is associated with a down regulation of DBH that is apparently not strictly dependent upon PHOX2B. Conversely, GATA2 and TFAP2B may play critical roles in maintaining adrenergic features in poorly differentiated tumours...
  16. ncbi request reprint EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
    Christopher T Gordon
    Unité INSERM U781, faculté Paris Descartes, Institut Imagine, Paris, France
    J Med Genet 49:737-46. 2012
    ..In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly delineated...
  17. pmc Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease
    Anne Sophie Jannot
    INSERM U 781, AP HP Hôpital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 20:917-20. 2012
    ..This allows us to conclude that the explanation for this parental asymmetry is that more severe mutations have resulted in a differential reproductive rate between male and female carriers...
  18. ncbi request reprint Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum
    Yolanda Espinosa-Parrilla
    Département de Génétique et Unité INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Prenat Diagn 24:298-301. 2004
    ..Thus, we studied a group of 18 fetuses terminated for ACC and performed mutational analysis of the ZFHX1B gene in six selected cases...
  19. ncbi request reprint PHOX2B gene mutation in a patient with late-onset central hypoventilation
    Ha Trang
    Service de Physiologie, INSERM E 9935, Hopital Robert Debre, Universite Paris 7, Paris, France
    Pediatr Pulmonol 38:349-51. 2004
    ..This finding suggests that some of these cases may be genetically determined and allelic to congenital central hypoventilation syndrome...
  20. ncbi request reprint Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
    Sabina Benko
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 48:825-30. 2011
    ..The supporting cell lineage of the bipotential gonad will differentiate as testicular Sertoli cells if SOX9 is expressed and conversely will differentiate as ovarian granulosa cells when SOX9 expression is switched off...
  21. ncbi request reprint Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome
    Loic de Pontual
    INSERM U781, Hopital Necker Enfants Malades, Paris, 75015, France
    Pediatr Res 64:689-94. 2008
    ..We ruled out PHOX2B, ASCL1, and NECDIN as disease-causing genes by direct sequencing in our series of patients and discuss possible disease-causing mechanisms...
  22. ncbi request reprint Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome
    Damien Sanlaville
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 13:690-3. 2005
    ..They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication...
  23. ncbi request reprint Germline gain-of-function mutations of ALK disrupt central nervous system development
    Loic de Pontual
    Universite Paris Descartes, INSERM U 781, France
    Hum Mutat 32:272-6. 2011
    ....
  24. ncbi request reprint [Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence]
    Sabina Benko
    Département de génétique, Université Paris Descartes et Inserm U 781, Hopital Necker Enfants Malades, Paris Cedex, France
    Biol Aujourdhui 205:111-24. 2011
    ..Here we report in detail how we identified alterations (translocations, deletions, point mutations) in non-coding regions, located far away (more than 1.2 Mb) upstream and downstream of SOX9, in clustered or sporadic SPR cases...
  25. ncbi request reprint Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients
    Daphne Lehalle
    Département de génétique, Hopital Necker Enfants Malades, APHP, Paris, France
    Hum Mutat 35:478-85. 2014
    ..MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle. ..
  26. pmc Nuclear outsourcing of RNA interference components to human mitochondria
    Simonetta Bandiera
    INSERM U781 Hôpital Necker Enfants Malades, Paris, France
    PLoS ONE 6:e20746. 2011
    ..Our data outline the molecular bases for a novel layer of crosstalk between nucleus and mitochondria through a specific subset of human miRNAs that we termed 'mitomiRs'...
  27. ncbi request reprint Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)
    Jeanne Amiel
    Département de Génétique et INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet A 117:18-20. 2003
    ..The screening of the RNX gene in a series of 25 patients with CCHS did not reveal any significant nucleotide variation. We therefore conclude that RNX is not a major gene for CCHS in human...
  28. pmc Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma
    Delphine Trochet
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 74:761-4. 2004
    ..Here, we report on germline mutations of PHOX2B in both a familial case of NB and a patient with the HSCR-NB association. PHOX2B, therefore, stands as the first gene for which germline mutations predispose to NB...
  29. ncbi request reprint Finger creases lend a hand in Kabuki syndrome
    Caroline Michot
    Département de génétique, Unité INSERM U781, Institut Imagine, Hopital Necker Enfants Malades, CLAD Ile de France, Paris, France
    Eur J Med Genet 56:556-60. 2013
    ....
  30. 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...
  31. ncbi request reprint GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays
    Mathieu Clément-Ziza
    Hopital Necker Enfants Malades, Paris, France
    Biotechniques 39:180, 182, 184. 2005
  32. ncbi request reprint Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
    Marine Legendre
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 49:698-707. 2012
    ..Therefore, we performed a detailed clinicopathological survey in our series of fetuses with CHD7 mutations, now extended to 40 cases. CHARGE syndrome is increasingly diagnosed antenatally, but remains challenging in many instances...
  33. ncbi request reprint Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis
    Bogdan Hermeziu
    Pediatric Hepatology, Bicetre University Hospital, Paris, France
    J Pediatr Gastroenterol Nutr 42:114-6. 2006
  34. pmc Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
    Marie Cognet
    Unité INSERM U 781, Universite Paris Descartes, Paris, France
    Eur J Hum Genet 19:602-6. 2011
    ..3 Mb at the MYCN locus. We found no mutations or deletions in this region, supporting the hypothesis of genetic heterogeneity in FS...
  35. ncbi request reprint High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
    Sophie Thomas
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 31:1134-41. 2010
    ..This is the first lethal disease-causing gene to be identified by comprehensive HTS of an entire linkage interval...
  36. ncbi request reprint Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
    Loic de Pontual
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    Hum Mol Genet 12:3173-80. 2003
    ....
  37. pmc Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions
    Mathieu Clément-Ziza
    INSERM U781, Faculte de Medecine, Hopital Necker Enfants Malades, Universite Rene Descartes, 75015, Paris, France
    RNA 14:2698-704. 2008
    ..We assessed several stains in regard of their effect on tissue morphology and RNA integrity and adjusted an ethanolic staining solution of cresyl violet and eosin Y...
  38. ncbi request reprint Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter
    Nicolas Gruchy
    Laboratoire de Cytogenetique, AP HP, Hopital Saint Antoine, Universite Pierre et Marie Curie, Paris, France
    Am J Med Genet A 143:2417-22. 2007
    ..The phenotypic effects of the terminal deletion of 2p in addition to the trisomy are discussed. This is the third patient presenting with a severe clinical phenotype and a de novo inv dup del (2p)...
  39. pmc Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
    Genevieve Baujat
    INSERM U393 and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 74:715-20. 2004
    ..These results suggest that the two disorders may have more similarities than previously thought and that NSD1 could be involved in imprinting of the chromosome 11p15 region...
  40. pmc KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
    Audrey Putoux
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Nat Genet 43:601-6. 2011
    ..Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies...
  41. ncbi request reprint Developmental outcome in Pierre Robin sequence: a longitudinal and prospective study of a consecutive series of severe phenotypes
    Béatrice Thouvenin
    General Pediatrics Department, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet A 161:312-9. 2013
    ..Global developmental quotient scores were lower but not significantly for children with an associated Stickler syndrome than those with isolated PRS. Children with isolated PRS showed good prognosis...
  42. pmc ALDH1A3 mutations cause recessive anophthalmia and microphthalmia
    Lucas Fares-Taie
    INSERM U781 and Department of Genetics, Paris Descartes University, Paris, France
    Am J Hum Genet 92:265-70. 2013
    ..Although the role of retinoic acid signaling in eye development is well established, our findings provide genetic evidence of a direct link between retinoic-acid-synthesis dysfunction and early-eye-development anomalies in humans...
  43. pmc Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes
    Capucine Delnatte
    Department of Genetics, Institut Curie, Paris, France
    Am J Hum Genet 78:1066-74. 2006
    ..We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes...
  44. ncbi request reprint Polyalanine expansions in human
    Jeanne Amiel
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Hum Mol Genet 13:R235-43. 2004
    ..The function of polyalanine stretches is largely unknown. This paper aims to review the rapidly growing evidences for a disease-causing mechanism common to expansion of homopolymeric tracts whatever the amino acid involved is...
  45. ncbi request reprint Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease
    Smail Hadj-Rabia
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Gastroenterology 127:1386-90. 2004
    ..We considered claudin-1 to be a strong candidate gene based on its mapping to the minimum interval and on the expression pattern of the mouse ortholog...
  46. ncbi request reprint Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form
    Julie Salomon
    Department of Pediatric Gastroenterology, Hepatology and Nutrition, Assistance Publique Hopitaux de Paris, Necker Enfants Malades Hospital, Universite Paris Descartes, Sorbonne Paris Cité, 149 rue de Sevres, 75015, Paris, France
    Hum Genet 133:299-310. 2014
    ..Our findings should help improve the diagnosis of CTE, guide toward strategies of long-term PN management, and limit indications for intestinal transplantation to life-threatening PN complications...
  47. ncbi request reprint Disruption of long-distance highly conserved noncoding elements in neurocristopathies
    Jeanne Amiel
    Department of Genetics, University Paris Descartes and INSERM U 781, Necker Enfants Malades APHP, Paris, France
    Ann N Y Acad Sci 1214:34-46. 2010
    ....
  48. ncbi request reprint Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion
    Daphne Lehalle
    Département de Génétique Histologie Embryologie Cytogénétique, Hopital Necker Enfants Malades, Paris, France INSERM U781, Université Sorbonne Paris Cité, Institut Imagine, Paris, France
    Am J Med Genet A 164:1310-7. 2014
    ..In addition, we discuss the potential involvement in the clinical spectrum presented by the patient of five of the deleted genes, namely DAAM1, PLEKHG3, SPTB, AKAP5, and ARID4A...
  49. pmc A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
    Sophie Thomas
    INSERM U781, H pital Necker Enfants Malades, Paris, France Universit Paris Descartes, Paris Sorbonne, France
    Hum Mutat . 2013
    ..This study identifies PDE6D as a novel JS disease gene and provides the first evidence of prenyl-binding dependent trafficking in ciliopathies. This article is protected by copyright. All rights reserved...
  50. pmc Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
    Caroline Michot
    INSERM U781, Département de génétique, Universite Paris Descartes, Sorbonne Paris Cité, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 90:740-5. 2012
    ..However, resistance to parathyroid hormone and thyrotropin was consistently observed in the five cases with PRKAR1A mutations. Finally, our study further supports the key role of the cAMP signaling pathway in skeletogenesis...
  51. ncbi request reprint Enhancer mutations and phenotype modularity
    Christopher T Gordon
    University Paris Descartes Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hopital Necker Enfants Malades, Paris, France
    Nat Genet 46:3-4. 2014
    ..A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis. ..
  52. ncbi request reprint Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls
    Naziha Khen-Dunlop
    Department of Pediatric Surgery, Necker Enfants Malades Hospital, Paris, France
    J Urol 177:1107-11. 2007
    ..Of several surgical treatments sigmoid vaginoplasty is among the few that provide a functional self-lubricating neovagina. We evaluated the results of sigmoid neovagina in girls affected by the Rokitansky syndrome...
  53. ncbi request reprint Discontinuity in the fall of left-handedness in a French population: a May '68 effect?
    François X Coudé
    Hopital Necker, Paris, France
    Laterality 11:33-5. 2006
    ..This phenomenon was not continuous, and a dramatic drop at age 30-40 years might be attributed to changes in educational management during the 1960s, especially after the events of May 1968 in France...
  54. ncbi request reprint Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
    David Attias
    Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris, France
    Circulation 120:2541-9. 2009
    ..TGFBR2 mutations were recognized recently among patients with a Marfan-like phenotype. The associated clinical and prognostic spectra remain unclear...
  55. ncbi request reprint Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
    Sabina Benko
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Nat Genet 41:359-64. 2009
    ..Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements...
  56. ncbi request reprint Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature
    D Genevieve
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet A 129:64-8. 2004
    ....
  57. ncbi request reprint Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
    Slimane Allali
    Department of Genetics, INSERM U781, Universite Paris Descartes, Hopital Necker, Paris, France
    J Med Genet 48:417-21. 2011
    ..In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2)...
  58. ncbi request reprint A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
    Mireille Castanet
    Paediatric Endocrinology Unit and INSERM U457, Paris, France
    Hum Mol Genet 11:2051-9. 2002
    ..Our observations support the role of TTF-2 in both thyroid and palate development but suggest phenotypic heterogeneity of this syndromic form of CH...
  59. ncbi request reprint Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
    Anne Roubergue
    Department of Neurology, Hopital Saint Antoine, AP HP, Paris, France
    Mov Disord 19:344-6. 2004
    ..These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome...
  60. ncbi request reprint A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf
    Julie Salomon
    Département de génétique, Universite Paris Descartes, Unité INSERM U781, Hopital Necker Enfants Malades, 75015 Paris, France
    Eur J Med Genet 54:319-22. 2011
    ..The c.498insC mutation was found on the background of a minimal common haplotype of 473kb suggesting a very old founder effect (5000-6000 yrs)...
  61. pmc Human neural crest cells display molecular and phenotypic hallmarks of stem cells
    Sophie Thomas
    INSERM, U781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Hum Mol Genet 17:3411-25. 2008
    ..The hNCC molecular profile is thus both unique and globally characteristic of uncommitted stem cells...