A Munnich

Summary

Country: France

Publications

  1. ncbi Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
    J M Rozet
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 6:291-5. 1998
  2. 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
  3. ncbi Spectrum of retGC1 mutations in Leber's congenital amaurosis
    I Perrault
    , INSERM U393, , Paris, France
    Eur J Hum Genet 8:578-82. 2000
  4. ncbi 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
  5. pmc Spectrum of NSD1 mutations in Sotos and Weaver syndromes
    M Rio
    Unité de Recherche sur les Handicaps Génétiques de l Enfant, INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:436-40. 2003
  6. ncbi First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency
    P F Ray
    Département de génétique et unité U393, Hopital Necker Enfants Malades, 75743 Paris Cedex 15, France
    Prenat Diagn 20:1048-54. 2000
  7. pmc Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
    M Rio
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 39:266-70. 2002
  8. 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
  9. ncbi Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
    J Amiel
    , , Paris, France
    Am J Med Genet 99:124-7. 2001
  10. pmc Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
    I Valnot
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, Hopital Necker Enfants Malades, 75743 Paris, France
    Am J Hum Genet 67:1104-9. 2000

Collaborators

Detail Information

Publications77

  1. ncbi Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
    J M Rozet
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 6:291-5. 1998
    ..Conversely, all mutations identified in FFM were missense mutations affecting uncharged amino acids. These results provide the first genotype-phenotype correlations in ABCR gene mutations...
  2. 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...
  3. ncbi Spectrum of retGC1 mutations in Leber's congenital amaurosis
    I Perrault
    , INSERM U393, , Paris, France
    Eur J Hum Genet 8:578-82. 2000
    ....
  4. ncbi 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...
  5. pmc Spectrum of NSD1 mutations in Sotos and Weaver syndromes
    M Rio
    Unité de Recherche sur les Handicaps Génétiques de l Enfant, INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:436-40. 2003
    ..We suggest therefore considering macrocephaly and facial gestalt as mandatory criteria for the diagnosis of Sotos syndrome and overgrowth and advanced bone age as minor criteria...
  6. ncbi First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency
    P F Ray
    Département de génétique et unité U393, Hopital Necker Enfants Malades, 75743 Paris Cedex 15, France
    Prenat Diagn 20:1048-54. 2000
    ..The second cycle resulted in the birth of a baby boy devoid of the OTC mutation. This constitutes the first birth following PGD carried out by a French team...
  7. pmc Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
    M Rio
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 39:266-70. 2002
    ..We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation...
  8. 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
  9. ncbi Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
    J Amiel
    , , Paris, France
    Am J Med Genet 99:124-7. 2001
    ....
  10. pmc Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
    I Valnot
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, Hopital Necker Enfants Malades, 75743 Paris, France
    Am J Hum Genet 67:1104-9. 2000
    ..Interestingly, the clinical presentation of SCO1-deficient patients markedly differs from that of patients harboring mutations in other COX assembly and/or maturation genes...
  11. ncbi A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
    L Colleaux
    INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 9:319-27. 2001
    ....
  12. ncbi 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
  13. ncbi Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
    R Salomon
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Hopital des Enfants Malades, Institut Necker, Paris, France
    Nat Genet 14:345-7. 1996
    ..These data prompted us to hypothesize that mutations of the gene encoding GDNF could either cause or modulate the HSCR phenotype in some cases...
  14. ncbi 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...
  15. doi The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
    N Brahimi
    AP HP, Hopital Necker Enfants Malades, Département de génétique, Batiment Lavoisier 3 è Etage, 149 rue de Sevres, Paris F 75015, France
    Mol Genet Metab 97:221-6. 2009
    ..6 Mb of DNA covering the DGUOK locus. In conclusion, we report a new DGUOK splice site mutation that provide insight into a critical protein domain (dGK kinase domain) and the first founder mutation in a North-African population...
  16. ncbi Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency
    J C Von Kleist-Retzow
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U393, Hopital des Enfants Malades, Paris, France
    Biochim Biophys Acta 1455:35-44. 1999
    ..Our findings indicate a genetic heterogeneity of COX deficiencies and are suggestive of a prominent involvement of nuclear genes acting on the assembly and maintenance of cytochrome c oxidase...
  17. ncbi Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
    V El Ghouzzi
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut Necker, Paris, France
    Eur J Hum Genet 7:27-33. 1999
    ..Finally, since no TWIST mutations were detected in 40 cases of isolated coronal craniosynostosis, the present study suggests that TWIST mutations are specific to Saethre-Chotzen syndrome...
  18. pmc Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1
    C Thauvin-Robinet
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 39:714-7. 2002
    ..Continuing studies will hopefully lead to the identification of the disease causing gene...
  19. doi Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH
    M Rio
    Département de génétique, Universite Paris Descartes, Hopital Necker Enfants Malades, AP HP, Paris, France
    Clin Genet 84:31-6. 2013
    ..We also discuss that the MYTL1L and the SNTG2 genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins...
  20. ncbi 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...
  21. ncbi 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
    ....
  22. ncbi 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...
  23. ncbi Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
    G Borck
    INSERM U393 et Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    Clin Genet 66:122-7. 2004
    ..This study will hopefully contribute to the delineation of new contiguous gene syndromes and the identification of new imprinted regions...
  24. ncbi 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...
  25. 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...
  26. ncbi 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...
  27. ncbi Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation
    C Cretolle
    Universite Paris Descartes, Faculte de Medecine, INSERM U781, Site Necker, Paris, France
    Hum Mutat 29:903-10. 2008
    ..No obvious genotype-phenotype correlation can be drawn thus far. Genetic heterogeneity is suspected, since at least 19 of the 24 patients without HLXB9 gene mutation harbor subtle phenotypic variations...
  28. ncbi 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...
  29. 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...
  30. ncbi Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
    I Perrault
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, Hopital des Enfants Malades, Paris, France
    Nat Genet 14:461-4. 1996
    ....
  31. 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...
  32. 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...
  33. doi A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome
    Z Assouline
    Universite Paris Descartes, Paris, France
    Biochim Biophys Acta 1822:1062-9. 2012
    ..We also report the association of abnormal brain MRI images with this characteristic BN-PAGE profile as the hallmarks of NDUFS4 mutations and the first founder NDUFS4 mutations in the North-African population...
  34. ncbi 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...
  35. 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...
  36. pmc Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
    P Benit
    Unité de Recherche sur les Handicaps Génétiques de l Enfant INSERM U393 and Département de Génétique, Hopital Necker Enfants Malades, Paris Cedex 15, France
    J Med Genet 41:14-7. 2004
    ..The reasons for these differences are uncertain...
  37. 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...
  38. ncbi Multiple displacement amplification improves PGD for fragile X syndrome
    P Burlet
    Faculte de Medecine, Universite Paris Descartes, Unité INSERM U781 Institut de Recherche Necker Enfants Malades, Service de Genetique Medicale, Hôpital Necker Enfants Malades Assistance Publique Hôpitaux de Paris, Paris, France
    Mol Hum Reprod 12:647-52. 2006
    ..Embryonic transfers were carried out in all but one PGD cycles. One biochemical and one clinical pregnancy resulted, and a healthy child was born. This single diagnosis procedure could be suitable to most patients carrying FXS...
  39. pmc NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
    G Borck
    INSERM U393 and Département de Génétique Médicale, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 41:e128. 2004
  40. pmc No evidence of genetic heterogeneity in dominant optic atrophy
    D Bonneau
    , INSERM U393, , Paris, France
    J Med Genet 32:951-3. 1995
    ..Multipoint analysis supports the mapping of the disease gene to the genetic interval defined by loci D3S1314 and D3S1265. The present study provides three new markers closely linked to the disease gene for future genetic studies in OPA...
  41. 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...
  42. pmc Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
    M L Jacquemont
    INSERM U781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    J Med Genet 43:843-9. 2006
    ..3 deletions. Many other chromosomal imbalances have been described. However, most of them remain undetectable using routine karyotype analysis, thus impeding diagnosis and genetic counselling...
  43. ncbi A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
    S Lyonnet
    Départment de pédiatrie, l Enfant INSERM U 12 Hôpital des Enfants Malades, Paris, France
    Nat Genet 4:346-50. 1993
    ..2, a region to which other neural crest defects have been mapped...
  44. ncbi 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...
  45. ncbi 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
    ....
  46. ncbi Expression of the RET proto-oncogene in human embryos
    T Attie-Bitach
    Départment de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 80:481-6. 1998
    ..e., multiple endocrine neoplasia syndromes and Hirschsprung disease)...
  47. 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...
  48. ncbi cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)
    L Viollet
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM, Unité 393, IFREM, Institut Necker, Hopital des Enfants Malades, Paris, France
    Genomics 40:185-8. 1997
    ..However, no evidence for a duplication of the Smn gene was found in the mouse, suggesting that the duplication reported in human is a recent evolutionary event...
  49. ncbi The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
    S Gerber
    INSERM U393, Hopital Necker, Paris, France
    Hum Genet 107:276-84. 2000
    ..Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte...
  50. ncbi Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome
    V El Ghouzzi
    , INSERM U-393, Institut Necker, , Paris, France
    FEBS Lett 492:112-8. 2001
    ....
  51. ncbi 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...
  52. ncbi A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34
    B Isidor
    Department of Medical Genetics and INSERM U781, Necker Enfants Malades Hospital, Paris, France
    Hum Genet 121:269-73. 2007
    ..21 at theta = 0 at locus D7S2513) in a 3.4 Mb defined by loci D7S2560 and AC091742. Ongoing studies will hopefully lead to identification of the disease-causing gene...
  53. pmc Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
    S Lebon
    INSERM U393, Department of Genetics, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    J Med Genet 40:896-9. 2003
    ..The recurrent mutations consistently involved T-->C transitions (p<10(-4)). This study supports the view that an efficient molecular screening should be based on an accurate identification of respiratory chain enzyme deficiency...
  54. 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...
  55. ncbi Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases
    J Amiel
    , H pital Necker-Enfants Malades, Paris, France
    Clin Dysmorphol 10:15-8. 2001
    ..A total of seven cases of HMC syndrome in five families have been hitherto reported. Here, we report two unrelated cases and put emphasis on the possible normal psychomotor development in this syndrome...
  56. ncbi 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...
  57. ncbi Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
    S Gerber
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 9:561-71. 2001
    ..In total, eight distinct mutations (5 out of 8 truncating) in 8/93 patients were found. So far this gene accounts for eight out of 142 LCA cases in our series (5.6%)...
  58. doi 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...
  59. pmc MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
    B Imessaoudene
    Département de Génétique and INSERM U 393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Med Genet 38:171-4. 2001
    ..This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females...
  60. ncbi A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
    I Valnot
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U393, Hopital des Enfants Malades, Paris, France
    Hum Genet 104:460-6. 1999
    ....
  61. ncbi 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
    ....
  62. ncbi A gene for hereditary multiple exostoses maps to chromosome 19p
    M Le Merrer
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Hopital des Enfants Malades, Paris, France
    Hum Mol Genet 3:717-22. 1994
    ....
  63. ncbi 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...
  64. ncbi Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease
    S Gerber
    INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Genomics 48:139-42. 1998
    ..The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease...
  65. ncbi Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
    F Rousseau
    Service de Genetique, INSERM U 393, CNRS ER 88, Institut Necker, Hopital des Enfants Malades, Paris, France
    Nature 371:252-4. 1994
    ..Thus it appears that recurrent mutations of a single amino acid in the transmembrane domain of the FGFR3 protein account for all cases (23/23) of achondroplasia in our series...
  66. ncbi Variable outcome of growth hormone administration in respiratory chain deficiency
    S Romano
    Department of Medical Genetics and INSERM U 781, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Mol Genet Metab 93:195-9. 2008
    ..In all patients, no benefit was observed concerning growth response as growth speed remained unchanged. These observations question the use of GH as a treatment of growth retardation for patients with OXPHOS deficiency...
  67. 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...
  68. ncbi Respiratory chain deficiency in Alpers syndrome
    M Gauthier-Villars
    Department of Medical Genetics and INSERM U-393, , Paris, France
    Neuropediatrics 32:150-2. 2001
    ....
  69. 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...
  70. ncbi Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human
    P Rustin
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, Hopital des Enfants Malades, Paris, France
    Biochim Biophys Acta 1361:185-97. 1997
    ....
  71. pmc High incidence of SHOX anomalies in individuals with short stature
    C Huber
    Department of Medical Genetics and INSERM U781, Hopital Necker Enfants Malades, 149 rue de Sévres 75015 Paris, France
    J Med Genet 43:735-9. 2006
    ..To study the SHOX gene and the PAR1 region in individuals with short stature...
  72. ncbi Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report
    M Holder-Espinasse
    Department of Genetics, Necker Enfants-Malades Hospital, Paris, France
    Clin Dysmorphol 10:253-5. 2001
    ..We discuss differential diagnoses such as Setleis, Char and Lacrimo-Auriculo-Dento-Digital (LADD) syndromes. This may represent a novel entity for which parental consanguinity would support an autosomal recessive mode of inheritance...
  73. ncbi A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36
    I Maystadt
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, F 75743 Paris Cedex 15, France
    Neurology 67:120-4. 2006
    ..To describe the clinical features of a novel variant of autosomal recessive lower motor neuron disease (LMND) with childhood onset and to map the disease-causing gene...
  74. 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...
  75. ncbi Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)
    J M Rozet
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393, Hopital des Enfants Malades, Paris, France
    Genomics 36:554-6. 1996
  76. ncbi Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
    P Edery
    Service de Génétique Médicale et Unité de Recherches sur les Handicaps Génétiques de l Enfant, Hopital des Enfants Malades, Paris, France
    Nat Genet 12:442-4. 1996
    ..EDN3 thus becomes the third known gene (after RET and EDNRB) predisposing to HSCR, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests...
  77. pmc Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases
    V Cormier-Daire
    J Med Genet 40:195-200. 2003