Affiliation: University of Cambridge
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS 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...
- Neural cell adhesion molecule L1: relating disease to functionS 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...
- Neural cell recognition molecule L1: relating biological complexity to human disease mutationsS 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...
- Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophyJ Amiel
J Med Genet 38:850-2. 2001
- Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genesS 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...
- A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic comaB 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
- A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS 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...
- Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null alleleI Perrault
, , , 75743 Paris Cedex 15, France
J Med Genet 40:e90. 2003
- Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA 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...
- A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuriaJ Jaruzelska
Institute of Human Genetics, Polish Academy of Sciences, Poznan
Hum Mol Genet 1:763-4. 1992
- Preimplantation genetic diagnosis for autosomal recessive polycystic kidney diseaseN 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...
- PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ 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...
- A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3A 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...
- Pierre Robin sequence: a series of 117 consecutive casesM 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...
- SHOX point mutations in dyschondrosteosisC Huber
J Med Genet 38:323. 2001
- Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardationM Rio
INSERM U393, HÄµpital 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...
- Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ 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...
- Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotypeG Joly
, , Institut Curie, INSERM U509, Paris, France
Clin Genet 60:212-9. 2001....
- TP63 gene mutation in ADULT syndromeJ 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...
- Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literatureD 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...
- 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...
- Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromesN 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...
- Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL 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...
- [Preimplantation genetic diagnosis (PGD): results from a Parisian center]E Feyereisen
, , 157, rue de la Porte-de-Trivaux, 92141 Clamart Cedex
J Gynecol Obstet Biol Reprod (Paris) 35:356-72. 2006..It might be a realistic alternative to prenatal diagnosis for patients carrier of chromosomal rearrangements, single gene defects, X-linked disesases or mitochondrial DNA disorders...
- Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal developmentC Bouchet
Department of Genetics, , Paris, France
J Med Genet 43:788-92. 2006..CONCLUSION: These data suggest that a prenatal diagnosis for MELAS syndrome might be helpful for at-risk families...
- Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusL De Pontual
, , INSERM, AP-HP, , INSERM U-393, Paris, France
J Med Genet 43:419-23. 2006..It seems likely that there are both RET dependent and RET independent HSCR cases...
- Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentD 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...
- [A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]J-M Lapierre
, , 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...
- Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3L 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...
- Identification of seven novel mutations in the GAN geneP 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...
- In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL 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...
- Mild phenotype in a 15-year-old boy with Pallister-Killian syndromeD 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...
- Clinical and genetic heterogeneity of Seckel syndromeL Faivre
, , 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...
- Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR geneJ-M Rozet
J Med Genet 39:284-5. 2002
- Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyP 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...
- Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosisP 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...
- X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signalingR 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...
- Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ 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...
- Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemiaB Gilbert-Dussardier
INSERM U 393, Department of Genetics, , Paris
Hum Mutat 8:74-6. 1996
- XNP mutation in a large family with Juberg-Marsidi syndromeL Villard
Nat Genet 12:359-60. 1996
- Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin geneE Souied
Genetics Laboratory INSERM U 393, Hopital des Enfants Malades, Paris, France
Am J Ophthalmol 121:19-25. 1996....
- X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusP Saugier-Veber
Service de Genetique, Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 393 Paris, France
Nat Genet 6:257-62. 1994..63, theta = 0.00). It appears, therefore, that SPG2 and PMD are allelic disorders...
- Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 casesP 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...
- [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...
- A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patientsE 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...
- Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiencyT 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...
- Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase geneD 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...
- A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuriaC 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...
- Two distinct mutations at a single BamHI site in phenylketonuriaD 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...
- Mutations of the TWIST gene in the Saethre-Chotzen syndromeV El Ghouzzi
Unité Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Institut Necker, Paris, France
Nat Genet 15:42-6. 1997....
- Sequence and structure of the human OXA1L gene and its upstream elementsA 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...
- Mutant WD-repeat protein in triple-A syndromeA 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...
- A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31V 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...
- Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decayZ 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...
- A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiencyI 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...
- Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brainR 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...
- Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2S Aradhya
Am J Med Genet 91:241-4. 2000
- Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber
Laboratoire de Genetique Moleculaire, CHU de Rouen, France
Hum Mutat 12:259-66. 1998....
- Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung diseaseB 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...
- A retGC-1 mutation in autosomal dominant cone-rod dystrophyI Perrault
Am J Hum Genet 63:651-4. 1998
- 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...
- Various mechanisms cause RET-mediated signaling defects in Hirschsprung's diseaseA 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...
- Endothelin-3 gene mutations in isolated and syndromic Hirschsprung diseaseC 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...
- Site specific screening for point mutations in ornithine transcarbamylase deficiencyD Feldmann
Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U 12, Paris, France
J Med Genet 29:471-5. 1992....