Genomes and Genes
- Polyalanine expansions in humanJeanne 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...
- Prenatal diagnosis of respiratory chain deficiency by direct mutation screeningJ Amiel
Département de Génétique et Unité INSERM U 393, 149 rue de Sevres, 75743 Paris Cedex 15, France
Prenat Diagn 21:602-4. 2001..The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD...
- 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...
- Hirschsprung disease, associated syndromes and genetics: a reviewJ Amiel
Université Paris 5 Descartes, Faculte de Medecine, INSERM U 781, AP HP, Hopital Necker Enfant Malades, Paris, France
J Med Genet 45:1-14. 2008..Hitherto, 10 genes and five loci have been found to be involved in HSCR development...
- 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...
- [Intellectual development of children with microdeletion 22q11.2: single-institution longitudinal study of 44 patients]J Amiel
Département de génétique, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris, France
Arch Pediatr 9:102s-103s. 2002
- 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 dysfunctionJeanne 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...
- 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...
- Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndromeJ Amiel
, , Paris, France
Am J Med Genet 99:124-7. 2001....
- PMX2B, a new candidate gene for Hirschsprung's diseaseH K Benailly
Département de génétique, Hopital Necker Enfants Malades, Paris, France
Clin Genet 64:204-9. 2003..The present observation suggests that PMX2B haploinsuffciency might predispose to HSCR...
- Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlationC 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...
- Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardationG 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...
- Renal coloboma syndromeP Dureau
Service d Ophtalmologie, Hopital Necker Enfants Malades, Paris, France
Ophthalmology 108:1912-6. 2001..To characterize the ocular features of renal coloboma syndrome...
- 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...
- Spectrum of NSD1 mutations in Sotos and Weaver syndromesM 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...
- 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...
- Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variabilityA Delahaye
Medical Genetics Department, Robert Debre University Hospital, Paris, France
Clin Genet 72:112-21. 2007..These familial reports describe the intrafamilial variability of CHARGE syndrome, and underline the presence of CHD7 mutations in patients who do not fit the 'classical clinical criteria' for CHARGE syndrome...
- 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...
- 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...
- Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural developmentV Abadie
Department of Paediatrics, Hopital Necker Enfants Malades, Paris, France
Eur J Pediatr 159:569-74. 2000..All children of this series had an atypical pattern of postural behaviour that we consider to be related to their vestibular anomalies. Residual otolith function seems to have a positive influence for postural development...
- A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardationL Colleaux
INSERM U393, Hopital Necker Enfants Malades, Paris, France
Eur J Hum Genet 9:319-27. 2001....
- 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
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...
- PAX2 mutations in oligomeganephroniaR Salomon
Pediatric Nephrologic Department, Necker Enfants Malades Hospital, Paris, France
Kidney Int 59:457-62. 2001..Heterozygous Pax2 mutants in mice are characterized by renal hypoplasia and retinal defects, and in humans, PAX2 mutations have been described in the renal-coloboma syndrome...
- Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseaseR 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...
- Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literatureD Genevieve
Département de génétique, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet A 129:64-8. 2004....
- A CGH study of 27 patients with CHARGE associationD Sanlaville
Département de Génétique Hôpital Necker Enfants Malades, Paris, France
Clin Genet 61:135-8. 2002..It is expected that more stringent diagnostic criteria of CHARGE association could define a more homogeneous group of patients where a single genetic cause might be identified...
- Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardationM 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...
- 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...
- Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersM 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...
- Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ 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...
- 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...
- Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphismC Cretolle
Département de génétique, Hôpital Necker Enfants Malades and INSERM U781, Paris, France
Am J Med Genet A 143:871-4. 2007....
- 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...
- MECP2 mutation in non-fatal, non-progressive encephalopathy in a maleB 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...
- Expression of the RET proto-oncogene in human embryosT 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)...
- Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case reportM 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...
- Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung diseaseT Attie
Unite de Recherches sur les Handicaps Genetiques de l Enfant, Paris, France
Hum Mol Genet 4:2407-9. 1995
- Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluidM Essaoui
Service de Gynecologie Obstetrique, Hopital Necker Enfants Malades, AP HP, Paris, France
Eur J Med Genet 56:502-5. 2013..Taking into account this observation, we discuss the difficulties of genetic counseling and management concerning heterokaryotypic monozygotic twins...
- Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung diseaseT Attie
Service de Genetique Medicale, INSERM U 393, Institut Necker, Hopital des Enfants Malades, Paris, France
Hum Mol Genet 4:1381-6. 1995....
- CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb developmentG Pinto
Pediatric Endocrinology Unit, Necker Enfants Malades Hospital, Paris, France
J Clin Endocrinol Metab 90:5621-6. 2005....
- Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathyI 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...
- 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...
- Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)J Amiel
Unité de Recherces sur les Handicaps Génétiques de l Enfant INSERM U 393, Service de Génétique Médicale and Clinique Chirurgicale Infantile, Hopital des Enfants Malades, Paris, France
Clin Dysmorphol 7:17-20. 1998..These data, together with the wide spectrum of mutant alleles reported in mi mice (which have pigmentary disorders), suggest that MITF could be regarded as a candidate gene in various pigmentation disorders in man...
- [Malformation syndromes associated with childhood cancer: an update]L De Pontual
Service de Pediatrie, Hopital Jean Verdier, AP HP, Universite Paris XIII, 14, Avenue du 14 Juillet, 93143 Bondy, France
Arch Pediatr 17:1220-7. 2010..These rare diagnoses are commonly missed. In this article, we reviewed the spectrum of these tumour predisposition syndromes...
- An overview of isolated and syndromic oesophageal atresiaD Genevieve
Département de Génétique et unité INSERM U 781, Paris, France
Clin Genet 71:392-9. 2007....
- [Genetic and molecular bases of neurocristopathies]H C Etchevers
INSERM U781, Universite Paris V, Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
Arch Pediatr 14:668-72. 2007
- [Enigmatic lymphatic diseases involving the lung]N Khen-Dunlop
Service de Chirurgie Viscerale Pediatrique, Hopital Necker Enfants Malades, 149, rue de Sevres, 75015 Paris, France Electronic address
Rev Pneumol Clin 69:260-4. 2013..However, lymphatic vessels complexity and its proximity with the venous system suggest the need for further researches, especially in the comprehension of pulmonary symptoms. ..
- Hirschsprung disease, associated syndromes, and genetics: a reviewJ Amiel
, , , , 75743 Paris Cedex 15, France
J Med Genet 38:729-39. 2001..So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance...
- CHARGE syndrome: report of 47 cases and reviewA L Tellier
Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant, INSERM U 393, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet 76:402-9. 1998....
- Refinement of cortical dysgeneses spectrum associated with TUBA1A mutationsN Bahi-Buisson
Pediatric Neurology Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
J Med Genet 45:647-53. 2008....
- A review of craniofacial disorders caused by spliceosomal defectsD Lehalle
Department of Genetics, APHP, Hopital Necker Enfants Malades, Paris, France
Clin Genet 88:405-15. 2015....
- [Characteristics of encrustation of ureteric stents in patients with urinary stones]H Bouzidi
Service de Biochimie A, Groupe Hospitalier Necker Enfants Malades, France, 149, rue de Sevres, 75743 Paris Cedex 15, France
Prog Urol 18:230-7. 2008..The goal of this prospective study was to characterize ureteral stents encrustation in stone formers...
- Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung diseaseA Pelet
J Med Genet 42:e18. 2005
- SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseV Pingault
INSERM U468, Hopital Henri Mondor, Creteil, France
Nat Genet 18:171-3. 1998..Our findings further define the locus heterogeneity of Waardenburg-Hirschsprung syndromes, and point to an essential role of SOX10 in the development of two neural crest-derived human cell lineages...
- Mutations of the RET-GDNF signaling pathway in Ondine's curseJ Amiel
Am J Hum Genet 62:715-7. 1998
- Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndromeS Manouvrier-Hanu
Consultation de Génétique Clinique, Hopital Jeanne de Flandre, CHRU, Lille, France
J Med Genet 36:775-8. 1999..As this mutation occurs in a protein domain with no predicted function, it could be responsible for a conformational change affecting the protein catalytic function, since a non-polar amino acid is replaced by a charged residue...
- Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategyT Bienvenu
Laboratoire de Biochimie et Génétique Moléculaire and INSERM U129 ICGM, Hopital Cochin, 123 Boulevard de Port Royal, 75014 Paris, France
Hum Mutat 18:251-2. 2001....
- Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysisE Bitoun
Wellcome Trust Centre for Human Genetics, Oxford, UK
Prenat Diagn 22:121-6. 2002..Direct SPINK5 mutation analysis in families at risk for NS represents the first early, rapid and reliable method for prenatal diagnosis of this life threatening form of ichthyosis...
- Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophyJ Amiel
J Med Genet 38:850-2. 2001
- Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome)L Sztriha
Department of Paediatrics, FMHS, UAE University, Al Ain, United Arab Emirates
Neuropediatrics 34:322-5. 2003..Mutations in ZFHX1 B can lead to neurological disorders in addition to dysmorphic features, megacolon, and other malformations...
- Embryonic expression of the human MID1 gene and its mutations in Opitz syndromeL Pinson
J Med Genet 41:381-6. 2004
- Establishment of two new human bladder carcinoma cell lines, CAL 29 and CAL 185. Comparative study of cell scattering and epithelial to mesenchyme transition induced by growth factorsN Cattan
, Centre Antoine Lacassagne, Av Valombrose, Nice, 06189, France
Br J Cancer 85:1412-7. 2001..In conclusion, these two new cell lines could be good models to dissect the molecular mechanisms involved in invasion and metastasis development in human bladder cancer...
- Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome?J Amiel
J Med Genet 39:148-52. 2002
- Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial studyC Tonetti
, , Creteil, France
J Inherit Metab Dis 24:833-42. 2001..The father was treated with folic acid, which partially improved biochemical abnormalities. The impact of these mutations is discussed...
- Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi couplingS Fuchs
INSERM Unit 36, College de France, Paris
Mol Med 7:115-24. 2001..EDNRB mutations are found in 5% of familial or sporadic HSCR. Only few EDNRB mutations found in HSCR have been explored and some of them seem to be non fonctional variants...
- Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromesC Gicquel
J Med Genet 41:e4. 2004
- Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literatureB Isidor
Department of Pediatric Hepatology, Bicetre University Hospital, France
J Pediatr Gastroenterol Nutr 45:261-4. 2007