A Munnich

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc A retGC-1 mutation in autosomal dominant cone-rod dystrophy
    I Perrault
    Am J Hum Genet 63:651-4. 1998
  2. pmc Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    S Kenwrick
    Addenbrooke s Hospital, Cambridge, UK
    Am J Hum Genet 69:1210-7. 2001
  3. ncbi request reprint Neural cell adhesion molecule L1: relating disease to function
    S Kenwrick
    Department of Medicine, University of Cambridge, UK
    Bioessays 20:668-75. 1998
  4. ncbi request reprint Neural cell recognition molecule L1: relating biological complexity to human disease mutations
    S Kenwrick
    Wellcome Trust Centre for the Study of Molecular Mechanisms of Disease and Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    Hum Mol Genet 9:879-86. 2000
  5. pmc Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy
    J Amiel
    J Med Genet 38:850-2. 2001
  6. ncbi request reprint Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
    S Aradhya
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 902E, Houston, TX 77030, USA
    Hum Mol Genet 10:2557-67. 2001
  7. ncbi request reprint A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma
    B Segues
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Departement de Pediatrie, Hopital des Enfants Malades, Paris
    Hum Mutat 8:373-4. 1996
  8. ncbi request reprint A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
    S Aradhya
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 10:2171-9. 2001
  9. pmc Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele
    I Perrault
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Med Genet 40:e90. 2003
  10. ncbi request reprint Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    A Smahi
    Department of Genetics, Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERMU 393, Hopital Necker Enfants Malades, Paris, France
    Nature 405:466-72. 2000

Collaborators

Detail Information

Publications64

  1. pmc A retGC-1 mutation in autosomal dominant cone-rod dystrophy
    I Perrault
    Am J Hum Genet 63:651-4. 1998
  2. pmc Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    S Kenwrick
    Addenbrooke s Hospital, Cambridge, UK
    Am J Hum Genet 69:1210-7. 2001
    ..Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation...
  3. ncbi request reprint Neural cell adhesion molecule L1: relating disease to function
    S Kenwrick
    Department of Medicine, University of Cambridge, UK
    Bioessays 20:668-75. 1998
    ..Disease-causing mutations as well as mouse models of L1 disruption can now be used to examine the relevance of L1 binding specificities and signal transduction pathways that have been observed in vitro...
  4. ncbi request reprint Neural cell recognition molecule L1: relating biological complexity to human disease mutations
    S Kenwrick
    Wellcome Trust Centre for the Study of Molecular Mechanisms of Disease and Department of Medicine, University of Cambridge, Addenbrooke s Hospital, UK
    Hum Mol Genet 9:879-86. 2000
    ..In this review we will summarize how the analysis of pathological mutations in L1 is complementing the study of mouse models and in vitro analysis of L1 function...
  5. pmc Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy
    J Amiel
    J Med Genet 38:850-2. 2001
  6. ncbi request reprint Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
    S Aradhya
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 902E, Houston, TX 77030, USA
    Hum Mol Genet 10:2557-67. 2001
    ..Together, these data describe an unusual and complex genomic region that is susceptible to various types of pathogenic and polymorphic rearrangements, including the recurrent lethal deletion associated with IP...
  7. ncbi request reprint A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma
    B Segues
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Departement de Pediatrie, Hopital des Enfants Malades, Paris
    Hum Mutat 8:373-4. 1996
  8. ncbi request reprint A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
    S Aradhya
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 10:2171-9. 2001
    ..Based on these and other recent findings, we propose a model to explain the pathogenesis of this complex disorder...
  9. pmc Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele
    I Perrault
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Med Genet 40:e90. 2003
  10. ncbi request reprint Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    A Smahi
    Department of Genetics, Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERMU 393, Hopital Necker Enfants Malades, Paris, France
    Nature 405:466-72. 2000
    ..Here we show that most cases of IP are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations. As a consequence, NF-kappaB activation is defective in IP cells...
  11. ncbi request reprint A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria
    J Jaruzelska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan
    Hum Mol Genet 1:763-4. 1992
  12. ncbi request reprint Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease
    N Gigarel
    Universite Paris Descartes, Faculte de Medecine, Unité INSERM U781, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Reprod Biomed Online 16:152-8. 2008
    ..This standardized diagnostic procedure allowed the detection of recombination, contamination, and ADO events, providing high assay accuracy with wide applicability...
  13. ncbi request reprint PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism
    J Amiel
    Département de Génétique et Unité INSERM U 393, Paris, France
    Eur J Hum Genet 8:820-6. 2000
    ..Finally, the presence of PAX2 germline mosaicism highlights the difficulties associated with genetic counselling for PAX2 mutations...
  14. pmc A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3
    A Cabot
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut National de la Santé et de la Recherche Médicale U393, Hopital des Enfants Malades, Paris, France
    Am J Hum Genet 64:1141-6. 1999
    ..It is hoped that the complete gene characterization will address the complex pathophysiology of CN...
  15. ncbi request reprint Pierre Robin sequence: a series of 117 consecutive cases
    M Holder-Espinasse
    Department of Genetics, Necker Enfants-Malades Hospital, Paris, France
    J Pediatr 139:588-90. 2001
    ..In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 syndromes represent more than 50% of the diagnoses...
  16. pmc SHOX point mutations in dyschondrosteosis
    C Huber
    J Med Genet 38:323. 2001
  17. ncbi request reprint Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation
    M Rio
    INSERM U393, Hĵpital Necker-Enfants Malades, Paris, France
    Hum Genet 108:511-5. 2001
    ..Our finding emphasizes the potential use of fluorescent genotyping to detect uniparental disomies and suggests that chromosome 17q25 should contain one or several imprinted genes of particular importance for brain development...
  18. pmc Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures
    J Amiel
    Département de génétique, et Unité INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 69:1370-7. 2001
    ..Thus, SMADIP1, which encodes a transcriptional corepressor of Smad target genes, may play a role not only in the patterning of neural-crest-derived cells and of CNS but also in the development of midline structures in humans...
  19. ncbi request reprint Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype
    G Joly
    , , Institut Curie, INSERM U509, Paris, France
    Clin Genet 60:212-9. 2001
    ....
  20. ncbi request reprint TP63 gene mutation in ADULT syndrome
    J Amiel
    Département de génétique, et Unité INSERM U 393, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Eur J Hum Genet 9:642-5. 2001
    ..This finding widens the spectrum of abnormalities to be ascribed to TP63 gene in human and emphasise on the variable roles of the different Tp63 isotypes...
  21. doi request reprint Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature
    D Genevieve
    Département de Génétique et INSERM U781 et Université René Descartes, Paris V, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet A 146:992-6. 2008
    ..Therefore, we propose that recurrence in sibs is due to gonadal mosaicism...
  22. ncbi request reprint Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)
    V Cormier-Daire
    Department of Medical Genetics, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 106:272-4. 2001
    ..However, in 2 of 23 families, linkage studies excluded SHOX as the disease-causing gene, suggesting that this condition is genetically heterogeneous...
  23. pmc Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes
    N Dagoneau
    Department of Genetics and INSERM U781, Universite Paris Descartes, Paris, France
    Am J Hum Genet 80:966-70. 2007
    ..The identification of CRLF1 mutations in Crisponi syndrome supports the key role of the CNTFR pathway in the function of the autonomic nervous system...
  24. ncbi request reprint Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
    L De Pontual
    université Paris René Descartes, Faculte de Medecine, INSERM U 781, AP HP, Hopital Necker Enfant Malades, Paris, France
    Hum Mutat 28:790-6. 2007
    ..These data highlight the pivotal role of the RET gene in both isolated and syndromic HSCR...
  25. ncbi request reprint [Preimplantation genetic diagnosis (PGD): results from a Parisian center]
    E Feyereisen
    Service de gynécologie obstétrique et de médecine de la reproduction, Hopital Antoine Beclere, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex
    J Gynecol Obstet Biol Reprod (Paris) 35:356-72. 2006
    ..The resulting embryos were biopsied on the third day of development and the genetic analysis was performed on the same day. Embryo transfers were carried out on the fourth day...
  26. pmc Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development
    C Bouchet
    Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 43:788-92. 2006
    ..Very few data are available with respect to prenatal diagnosis of this serious disease. The rate of mutant versus wild-type mtDNA (heteroplasmy) in fetal DNA is indeed considered to be a poor indicator of postnatal outcome...
  27. pmc Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus
    L De Pontual
    Universite Paris Descartes, Faculte de Medecine, INSERM, AP HP, Hopital Necker Enfant Malades, INSERM U 393, Paris, France
    J Med Genet 43:419-23. 2006
    ..However, some syndromic forms of HSCR are monogenic entities, for which the disease causing gene is known...
  28. pmc Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
    D Sanlaville
    Département de Génétique et Unité INSERM U 393, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    J Med Genet 43:211-217. 2006
    ..Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown...
  29. ncbi request reprint [A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]
    J M Lapierre
    Service de Cytogénétique, Hopital Necker Enfants Malades, Paris
    Ann Biol Clin (Paris) 62:203-12. 2004
    ..However, technical improvements are still necessary before using it in a clinical setting. Also, further studies are necessary to assess its sensitivity and specificity...
  30. pmc Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3
    L Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:282-4. 2003
    ..5 cM interval defined by loci D17S802 and D17S1822. The present study supports the genetic homogeneity of the clinical subtype with hand anomalies and will hopefully help in identifying the Desbuquois dysplasia gene...
  31. ncbi request reprint Identification of seven novel mutations in the GAN gene
    P Bomont
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch Cedex, C U de Strasbourg, France
    Hum Mutat 21:446. 2003
    ..In addition, the molecular result for an already reported family was re-evaluated. In this family, the R269Q "polymorphism" is in fact the pathogenic mutation...
  32. pmc In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
    L Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:34-6. 2003
    ..This study strongly suggests that AD WMS and Marfan syndrome are allelic conditions at the fibrillin-1 locus and adds to the remarkable clinical heterogeneity of type I fibrillinopathies...
  33. ncbi request reprint Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome
    D Genevieve
    Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet A 116:90-3. 2003
    ..This observation illustrates the phenotypic variability of i(12p) and emphasizes the importance of skin fibroblasts chromosome analysis in patients with pigmentary skin changes...
  34. ncbi request reprint Clinical and genetic heterogeneity of Seckel syndrome
    L Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 112:379-83. 2002
    ..These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition...
  35. pmc Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
    J M Rozet
    J Med Genet 39:284-5. 2002
  36. pmc Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
    P Benit
    INSERM U393, Service de Genetique, Hopital Necker Enfants Malades, 75015 Paris, France
    Am J Hum Genet 68:1344-52. 2001
    ..These results suggest that screening for complex I nuclear gene mutations is of particular interest in patients with complex I deficiency, even when normal respiratory-chain-enzyme activities in cultured fibroblasts are observed...
  37. ncbi request reprint Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis
    P Benit
    Unité de génétique and U 393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Prenat Diagn 21:279-83. 2001
    ..The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease...
  38. ncbi request reprint X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
    R Doffinger
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nat Genet 27:277-85. 2001
    ..We thus report for the first time that impaired but not abolished NF-kappaB signaling in humans results in two related syndromes that associate specific developmental and immunological defects...
  39. ncbi request reprint Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
    J Amiel
    Service de Génétique Médicale and Clinique Chirurgicale Infantile, Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Paris, France
    Hum Mol Genet 5:355-7. 1996
    ..In addition, the present data give further support to the role of the endothelin-signalling pathway in the development of neural crest-derived enteric neurons...
  40. ncbi request reprint Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia
    B Gilbert-Dussardier
    INSERM U 393, Department of Genetics, Hopital des Enfants Malades, Paris
    Hum Mutat 8:74-6. 1996
  41. ncbi request reprint XNP mutation in a large family with Juberg-Marsidi syndrome
    L Villard
    Nat Genet 12:359-60. 1996
  42. ncbi request reprint Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene
    E Souied
    Genetics Laboratory INSERM U 393, Hopital des Enfants Malades, Paris, France
    Am J Ophthalmol 121:19-25. 1996
    ....
  43. ncbi request reprint X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    P Saugier-Veber
    Service de Genetique, Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393 Paris, France
    Nat Genet 6:257-62. 1994
    ..63, theta = 0.00). It appears, therefore, that SPG2 and PMD are allelic disorders...
  44. ncbi request reprint Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases
    P Labrune
    Unité de Recherche sur les Handicaps Génétiques de l Enfant, INSERM U393, Hopital des Enfants Malades, Paris, France
    Hum Genet 94:693-7. 1994
    ..The present study confirms that CN-I is genetically heterogeneous and suggests that different founder effects are involved in Western Europe, the Middle East, and North Africa...
  45. ncbi request reprint [Gene localisation in 12q12 in Holt-Oram atrio-digital syndrome]
    D Bonnet
    , , Paris
    Arch Mal Coeur Vaiss 88:661-6. 1995
    ..The identification of this gene should open wide perspectives for genetic research of cardiac morphogenesis and clarify the molecular mechanisms which govern cardiac septation during embryogenesis...
  46. ncbi request reprint A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
    E Bussaglia
    Molecular Genetics Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain
    Nat Genet 11:335-7. 1995
    ..This observation gives strong support to the view that mutations of the SMN gene are responsible for the SMA phenotype as it is the first frameshift mutation reported in SMA...
  47. ncbi request reprint Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
    T Bourgeron
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, Institut Necker, Hopital des Enfants Malades, Paris, France
    Nat Genet 11:144-9. 1995
    ..This is the first report of a nuclear gene mutation causing a mitochondrial respiratory chain deficiency in humans...
  48. ncbi request reprint Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene
    D Hentzen
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 12, Hopital des Enfants Malades, Paris, France
    Hum Genet 88:153-6. 1991
    ..8-kb abnormal fragment should be investigated on Southern blots of affected individuals...
  49. ncbi request reprint A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria
    C Caillaud
    Unité de Recherches sur les Handicaps, Génétiques de l Enfant, Institut National de la Santé et de la Recherche Médicale U 12, Hopital des Enfants Malades, Paris, France
    J Biol Chem 266:9351-4. 1991
    ..Finally, since none of the 98 PKU patients tested were found to carry this particular deletion, our study suggests that this molecular event probably occurred recently on the background of a haplotype 2 gene in Portugal...
  50. pmc Two distinct mutations at a single BamHI site in phenylketonuria
    D Melle
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 12, Hopital des Enfants Malades, Paris, France
    J Med Genet 28:38-40. 1991
    ..The present study supports the view that the clinical heterogeneity in PKU is accounted for by the large variety of mutant genotypes associated with PAH deficiencies...
  51. ncbi request reprint Mutations of the TWIST gene in the Saethre-Chotzen syndrome
    V El Ghouzzi
    Unité Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Institut Necker, Paris, France
    Nat Genet 15:42-6. 1997
    ....
  52. ncbi request reprint Sequence and structure of the human OXA1L gene and its upstream elements
    A Rotig
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERMU393, Hopital des Enfants Malades, Paris, France
    Biochim Biophys Acta 1361:6-10. 1997
    ..The screening of OXA1L mutation in patients with multiple respiratory chain deficiency is now feasible...
  53. ncbi request reprint Mutant WD-repeat protein in triple-A syndrome
    A Tullio-Pelet
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Paris, France
    Nat Genet 26:332-5. 2000
    ..The expression of the gene in both neuroendocrine and cerebral structures points to a role in the normal development of the peripheral and central nervous systems...
  54. pmc A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31
    V Cormier-Daire
    Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, 75015 Paris, France
    Am J Hum Genet 67:991-3. 2000
    ..1 cM). Ongoing studies may lead to the identification of the disease-causing gene...
  55. ncbi request reprint Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
    Z Urban
    Pacific Biomedical Research Center, University of Hawaii, Honolulu 96822 2321, USA
    Hum Genet 106:577-88. 2000
    ..Given the predominance of PTC mutations in SVAS, we suggest that functional haploinsufficiency may be a pathomechanism underlying most cases of non-syndromic SVAS...
  56. ncbi request reprint A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency
    I Valnot
    INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Hum Mol Genet 9:1245-9. 2000
    ..All three nuclear genes now linked to isolated COX deficiency are involved in the maturation and assembly of COX, emphasizing the major role of such genes in COX pathology...
  57. pmc Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
    R L Touraine
    Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant, Hopital Necker Enfants Malades, 75743 Paris, France
    Am J Hum Genet 66:1496-503. 2000
    ..These data emphasize the important role of SOX10 in early development of both neural-crest-derived tissues, namely melanocytes, autonomic and enteric nervous systems, and glial cells of the central nervous system...
  58. ncbi request reprint Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2
    S Aradhya
    Am J Med Genet 91:241-4. 2000
  59. ncbi request reprint Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis
    P Saugier-Veber
    Laboratoire de Genetique Moleculaire, CHU de Rouen, France
    Hum Mutat 12:259-66. 1998
    ....
  60. ncbi request reprint Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
    B Doray
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U393, Paris, France
    Hum Mol Genet 7:1449-52. 1998
    ..This cascade of independent and additive genetic events fits well with the multigenic pattern of inheritance expected in HSCR, and further support the role of RET ligands in development of the enteric nervous system...
  61. ncbi request reprint SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
    V Belin
    Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U393, Hopital des Enfants Malades, Paris, France
    Nat Genet 19:67-9. 1998
    ..Here, we report large-scale deletions (in seven families) and a nonsense mutation (in one family) of SHOX in patients with DCS and show that Langer mesomelic dwarfism results from homozygous mutations at the DCS locus...
  62. pmc Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease
    A Pelet
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Paris Cedex 15, France
    J Clin Invest 101:1415-23. 1998
    ..Taken together, our data show that allelic heterogeneity at the RET locus in HSCR is associated with various molecular mechanisms responsible for RET dysfunction...
  63. ncbi request reprint Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease
    C Bidaud
    INSERM U 393, Département de Gńétique, and Clinique Chirurgicale Infantile, Hopital des Enfants Malades, Paris, France
    Eur J Hum Genet 5:247-51. 1997
    ..They also suggest the possibility that either recessive or weakly penetrant dominant alleles could occur at the EDN3 locus, depending on the nature of the mutation...
  64. pmc Site specific screening for point mutations in ornithine transcarbamylase deficiency
    D Feldmann
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 12, Paris, France
    J Med Genet 29:471-5. 1992
    ....