Alain Verloes

Summary

Country: France

Publications

  1. ncbi request reprint Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Nat Genet 38:294-6. 2006
  2. ncbi request reprint Spectrum of epilepsy in terminal 1p36 deletion syndrome
    Nadia Bahi-Buisson
    Department of Pediatric Neurology, Hopital Necker Enfants Malades, AP HP, Universite Paris V, Paris, France, and INSERM, U663, Paris, France
    Epilepsia 49:509-15. 2008
  3. doi request reprint [Diagnostic investigations for an unexplained developmental disability]
    A Verloes
    Département de génétique, CHU Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    Arch Pediatr 19:194-207. 2012
  4. ncbi request reprint Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
    Alain Verloes
    Clinical Genetics Unit, APHP Robert DEBRE University Hospital, Paris, France
    Am J Med Genet A 140:1285-96. 2006
  5. ncbi request reprint [RAS signalling pathway and its syndromes]
    A Verloes
    Département de génétique, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    Arch Pediatr 14:586-9. 2007
  6. doi request reprint Congenital absence of the left pericardium and diaphragmatic defect in sibs
    Alain Verloes
    Department of Genetics, APHP Robert Debré Hospital, Paris, France
    Eur J Med Genet 53:133-5. 2010
  7. ncbi request reprint [X chromosome]
    Alain Verloes
    Département de génétique, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris 75, France
    Presse Med 36:1S7-13. 2007
  8. doi request reprint [Sensible guidelines for the evaluation of mental retardation]
    A Verloes
    Département de génétique, Hopital Robert Debre, AP HP, 48, boulevard Serurier, 75019 Paris, France
    Arch Pediatr 15:708-10. 2008
  9. doi request reprint Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene
    Andrée Delahaye
    AP HP, Hopital Jean Verdier, Service d Histologie, Embryologie, et Cytogénétique, Bondy, France
    Am J Med Genet A 158:2430-8. 2012
  10. pmc Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis
    Anne Claude Tabet
    AP HP, Cytogenetics Unit, Department of Genetics, Robert Debre Hospital, Paris, France
    Am J Med Genet A 152:1781-8. 2010

Detail Information

Publications85

  1. ncbi request reprint Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Nat Genet 38:294-6. 2006
    ....
  2. ncbi request reprint Spectrum of epilepsy in terminal 1p36 deletion syndrome
    Nadia Bahi-Buisson
    Department of Pediatric Neurology, Hopital Necker Enfants Malades, AP HP, Universite Paris V, Paris, France, and INSERM, U663, Paris, France
    Epilepsia 49:509-15. 2008
    ..Previous reports have summarized the seizures types occurring in 1p36 deletion syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8 years) with confirmed 1p36 deletion...
  3. doi request reprint [Diagnostic investigations for an unexplained developmental disability]
    A Verloes
    Département de génétique, CHU Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    Arch Pediatr 19:194-207. 2012
    ..We recommend MRI imaging only if head size is abnormal, if neurological examination is abnormal, or regression occurs if walking is not achieved by 2 years, or if development is severely delayed...
  4. ncbi request reprint Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
    Alain Verloes
    Clinical Genetics Unit, APHP Robert DEBRE University Hospital, Paris, France
    Am J Med Genet A 140:1285-96. 2006
    ..Types MKB and V are newly described here...
  5. ncbi request reprint [RAS signalling pathway and its syndromes]
    A Verloes
    Département de génétique, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    Arch Pediatr 14:586-9. 2007
  6. doi request reprint Congenital absence of the left pericardium and diaphragmatic defect in sibs
    Alain Verloes
    Department of Genetics, APHP Robert Debré Hospital, Paris, France
    Eur J Med Genet 53:133-5. 2010
    ..This appears to be the first familial report of this rare association...
  7. ncbi request reprint [X chromosome]
    Alain Verloes
    Département de génétique, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris 75, France
    Presse Med 36:1S7-13. 2007
    ..Contrasting with outosomal disorders, the difference between recessivity and dominance is often relative, as heterozygous women con disclose a phenotype comparable to affected males, as a result of random X inactivation...
  8. doi request reprint [Sensible guidelines for the evaluation of mental retardation]
    A Verloes
    Département de génétique, Hopital Robert Debre, AP HP, 48, boulevard Serurier, 75019 Paris, France
    Arch Pediatr 15:708-10. 2008
  9. doi request reprint Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene
    Andrée Delahaye
    AP HP, Hopital Jean Verdier, Service d Histologie, Embryologie, et Cytogénétique, Bondy, France
    Am J Med Genet A 158:2430-8. 2012
    ..Histopathological features of Axenfeld-Rieger anomaly were clearly identifiable before the beginning of the third-trimester of gestation...
  10. pmc Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis
    Anne Claude Tabet
    AP HP, Cytogenetics Unit, Department of Genetics, Robert Debre Hospital, Paris, France
    Am J Med Genet A 152:1781-8. 2010
    ..We discuss the possible implication of UTRN in arthrogryposis associated with duplications spanning the 6q23q26 region...
  11. doi request reprint A familial syndromal form of omphalocele
    Marylin Port-Lis
    Clinical Genetics Unit, University Hospital, Pointe à Pitre University Hospital, Guadalupe Island, France
    Eur J Med Genet 54:337-40. 2011
    ....
  12. pmc Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome
    Caroline Nava
    Department of Genetics, AP HP, Hopital Robert Debre, Paris, France
    J Med Genet 44:763-71. 2007
    ..Although some associated features appear to be characteristic of a specific gene, no simple rule exists to distinguish NS from CFC easily...
  13. doi request reprint Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome
    Laila Rifai
    Department of Medical Genetics, AP HP Robert DEBRE University Hospital, Paris, France
    Am J Med Genet A 152:111-7. 2010
    ..We recommend considering cytogenetic and/or molecular screening for del(2q32) in patients with developmental disability and ectodermal dysplasia-like phenotype, including thin skin, oligodontia, dysplastic teeth, and sparse hair...
  14. ncbi request reprint Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins
    Dominique Bremond-Gignac
    Department of Ophthalmology, Robert Debre Hospital, Paris, France
    Am J Med Genet A 134:422-5. 2005
    ....
  15. pmc Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother
    Anne Claude Tabet
    AP HP, Robert Debre Hospital, Department of Genetics, Cytogenetics Unit, Paris, France
    Eur J Hum Genet 20:540-6. 2012
    ..We discuss the clinical and genetic implications of two different 16p chromosomal rearrangements in this family, and suggest that the 16p11.2 deletion in the father predisposed to the formation of the duplication in his twin children...
  16. doi request reprint Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication
    Jérôme Rambaud
    Department of Genetics, APHP Robert DEBRE University Hospital, Paris, France
    Am J Med Genet A 158:2277-82. 2012
    ..2). The proposita is the first reported individual with distal phalangeal agenesis and anonychia, and trisomy 4p and partial trisomy 9p due to 3:1 segregation of a maternal reciprocal translocation...
  17. ncbi request reprint Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
    Luigi Titomanlio
    Clinical Genetics Unit, Robert Debre Hospital, Paris, France
    Am J Med Genet A 137:332-5. 2005
    ..Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as "3MC syndrome" (Malpuech-Michels-Mingarelli-Carnevale syndrome)...
  18. doi request reprint Craniosynostosis: A rare complication of pycnodysostosis
    Sara Osimani
    Department of Genetics, AP HP Robert DEBRE University Hospital, Paris, France
    Eur J Med Genet 53:89-92. 2010
    ..We strongly suggest including systematic examination of fundus oculi and monitoring of OFC in the systematic clinical follow-up of these patients...
  19. ncbi request reprint A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria
    Luigi Titomanlio
    Clinical Genetics Unit, Robert Debre Hospital, Paris, France
    Am J Med Genet A 138:1-5. 2005
    ..Neuropathologic examination showed bilateral fronto-parietal cerebral polymicrogyria. This syndrome appears to represent a new variant of congenital sclerotic bone disorder of unknown origin. Autosomal recessive inheritance is possible...
  20. doi request reprint A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features
    Céline Poirsier-Violle
    Department of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debre Hospital, Paris, France
    Eur J Med Genet 56:226-8. 2013
    ..Three genes (KATA2, KCNH4, and STAT5B) may contribute to intellectual deficiency. Further observations will be necessary to confirm the specificity of the facial Gestalt...
  21. pmc Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
    Andrée Delahaye
    AP HP, Hopital Jean Verdier, Service d Histologie, Embryologie, et Cytogénétique, Bondy, France
    Eur J Hum Genet 20:527-33. 2012
    ..In addition to their importance for diagnosis and genetic counselling, these data may help identify genes involved in ocular development...
  22. doi request reprint Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome
    Valérie Bélien
    Medical Genetics, Hopital Robert Debre, Paris, France
    Am J Med Genet A 146:1871-4. 2008
    ..21, not encompassing the DiGeorge critical region (RP11-154H4 + , TBX1-). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q...
  23. doi request reprint Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
    Lilia Kraoua
    Department of Genetics, AP HP Robert Debré Hospital, Paris, France
    Am J Med Genet A 158:2407-11. 2012
    ..Among 17 patients with NRAS-mutated JMML, none had clinical features suggestive of NS. None of the 11 JMML patients for which germline DNA was available had a constitutional NRAS mutation...
  24. ncbi request reprint A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region
    Luigi Titomanlio
    Department of Child Neurology, AP HP Robert Debré Hospital, Paris, France
    Eur J Hum Genet 14:971-4. 2006
    ..European Journal of Human Genetics (2006) 14, 971-974. doi:10.1038/sj.ejhg.5201635; published online 17 May 2006...
  25. ncbi request reprint CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
    Boris Keren
    Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debre University Hospital, 48 Boulevard Serurier, 75019 Paris, France
    Am J Med Genet A 143:1514-8. 2007
  26. ncbi request reprint CHARGE syndrome: an update
    Damien Sanlaville
    INSERM U781, Genetic Department, AP HP Necker Enfants Malades Hospital, Paris, France
    Eur J Hum Genet 15:389-99. 2007
    ..We review available data on its molecular pathology as well as cytogenetic and molecular evidences for genetic heterogeneity within CHARGE syndrome...
  27. ncbi request reprint Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?
    Alain Verloes
    Clinical Genetic Unit, Hopital Robert Debre, boulevard Serurier, FR 75019 Paris, France
    Am J Med Genet A 137:199-203. 2005
    ..quot; Genealogical data are consistent with AR or XLR inheritance. No mutations were found in the coding sequence of filamin A...
  28. ncbi request reprint Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis
    Marie Gonzales
    Department of Pathologic Embryology and Cytogenetics, Hopital Saint Antoine, Paris, France
    Am J Med Genet A 136:373-6. 2005
    ..Combined with the latter cases, these four new patients allow delineation of a specific lethal AR syndrome with ossification defect of the axial skeleton and renal dysplasia. We propose to name this entity diaphanospondylodysostosis...
  29. doi request reprint The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement
    Isabelle Bailleul-Forestier
    Paediatric Dentistry Department, Paris 7 University AP HP, Hotel Dieu, Garanciere, Paris, France
    Eur J Med Genet 51:383-408. 2008
    ..A better knowledge of the dental phenotype may contribute to an earlier diagnosis of some MCA syndromes involving teeth anomalies. They may serve as a diagnostic indicator or help confirm a syndrome diagnosis...
  30. doi request reprint Aphallia, lung agenesis and multiple defects of blastogenesis
    Marion Gerard-Blanluet
    Department of Medical Genetics, APHP Robert Debré Hospital, Paris, France
    Fetal Pediatr Pathol 30:22-6. 2011
    ....
  31. doi request reprint Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases
    Essam Al Ageeli
    Department of Medical Genetics, APHP Robert DEBRE University Hospital, and Paris VII Denis Diderot University, Paris, France Jazan University, Faculty of Medicine, Jazan, Saudi Arabia
    Eur J Med Genet 57:5-14. 2014
    ..Duplications are clinically characterized by a variable phenotype that includes central hypotonia, developmental delay, speech delay, seizure, minor dysmorphic features and autism...
  32. doi request reprint Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome
    Chloé Quelin
    Clinical Genetics Unit, Rennes Sud University Hospital, Rennes, France
    Eur J Med Genet 55:81-90. 2012
    ..This latter malformation proves that SLOS phenotypically overlaps with Pallister-Hall syndrome which remains clinically a major differential diagnosis of SLOS...
  33. doi request reprint Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
    S Passemard
    Department of Clinical Genetics, U676, Hopital Robert Debre, APHP, 75019 Paris, France
    Neurology 73:962-9. 2009
    ..To determine the spectrum of clinical, neuropsychological, and neuroradiologic features in patients with autosomal recessive primary microcephaly (MCPH) due to ASPM gene mutations...
  34. ncbi request reprint Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family
    Christine Deffert
    Molecular Genetics Laboratory, Hopital Henri Mondor, Creteil, AP HP, France
    Am J Med Genet A 143:208-13. 2007
  35. doi request reprint Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome
    Fabien Guimiot
    Department of Developmental Biology, AP HP Robert Debré Hospital, Denis Diderot University, Paris, France
    Am J Med Genet A 149:1108-15. 2009
    ....
  36. ncbi request reprint Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?
    Alice Hadchouel
    Clinical Genetic Unit, Genetic Department, Hopital Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    Eur J Med Genet 48:367-76. 2005
    ....
  37. ncbi request reprint Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome
    Damien Sanlaville
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 13:690-3. 2005
    ..They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication...
  38. doi request reprint Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency
    Marion Gerard-Blanluet
    Department of Clinical Genetics, APHP Robert Debré Hospital, Paris, France
    Am J Med Genet A 152:2870-4. 2010
    ..This combination of anomalies may represent a localized deficiency in the development of somitic mesoderm mesenchyme during early embryogenesis...
  39. ncbi request reprint Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
    Dominique Bremond-Gignac
    Department of Ophthalmology, Robert Debre Hospital, AP HP, Paris, France
    Eur J Hum Genet 13:409-13. 2005
    ..Molecular and follow-up data on the original WAGRO case are briefly presented...
  40. doi request reprint A new lysosomal storage disorder resembling Morquio syndrome in sibs
    Laurence Perrin
    Departments of Genetics, AP HP Robert DEBRE University Hospital, Paris, France
    Eur J Med Genet 55:157-62. 2012
    ..We hypothesize that these two boys have a distinct autosomal recessive or X-linked lysosomal storage disorder of unknown origin that shares clinical and radiological features with Morquio disease...
  41. ncbi request reprint Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
    Alain Verloes
    Clinical Genetic Unit, Genetic Federation, Hopital Robert Debre, 75019 Paris, France
    Ann Genet 46:449-52. 2003
    ..The only differential diagnosis is Crisfield-Dretakis-Sharpe syndrome, a combination of lateral gaze palsy, ptosis, and scoliosis without hypotonia, recessively inherited...
  42. doi request reprint Many roads lead to primary autosomal recessive microcephaly
    Angela M Kaindl
    INSERM, U676, Paris, France
    Prog Neurobiol 90:363-83. 2010
    ....
  43. doi request reprint A long-term competent chimeric immune system in a dizygotic dichorionic twin
    Valerie Biran
    NSERM, U676, AVENIR RO5230HS Team, Paris, France
    Pediatrics 128:e458-63. 2011
    ....
  44. doi request reprint [From Noonan syndrome to juvenile myelomonocytic leukemia]
    H Cave
    AP HP, Département de génétique, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris et INSERM U718
    Arch Pediatr 15:812-3. 2008
  45. doi request reprint Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3
    A Delahaye
    Histology Embryology Cytogenetics Department, APHP Jean Verdier University Hospital, UFR SMBH, Paris 13 University, Bondy, France
    Eur J Med Genet 52:328-32. 2009
    ..Among the three genes in the minimal critical region (from the centromere to the telomere: SHANK3, ACR and RABL2B), the defect in the SHANK3 gene is considered to be the cause of the neurobehavioral symptoms...
  46. ncbi request reprint Hypertrichosis, Fallot tetralogy, growth and developmental delay
    Alain Verloes
    Clinical Genetic Unit, Robert Debré Hospital and INSERM E9935, Paris, France
    Clin Dysmorphol 13:247-50. 2004
    ..This appears to be a "new" entity within the group of syndromal hypertrichoses, possibly pathogenetically related to, but clinically distinct from Ambras or Oliver-McFarlane syndromes...
  47. doi request reprint Pseudoaminopterin syndrome
    Lilia Kraoua
    Department of Genetics, APHP Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France
    Am J Med Genet A 158:2233-8. 2012
    ....
  48. doi request reprint Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients
    Manuel Schiff
    Department of pediatric neurology and metabolic diseases, APHP Robert DEBRE University Hospital, Paris, France
    Eur J Med Genet 53:303-8. 2010
    ..Whereas isolated PAFAH1B1 deletion causes lissencephaly, YWHAE is a candidate for the dysmorphic phenotype associated with MDS...
  49. doi request reprint Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders
    Christel Depienne
    INSERM U679, AP HP, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Biol Psychiatry 66:349-59. 2009
    ..However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD...
  50. ncbi request reprint Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome
    Hélène De Leersnyder
    Department of Genetics, Hospital Robert Debre, 75019 Paris, France
    Mol Cell Endocrinol 252:88-91. 2006
    ..Considering that clock genes mediate generation of circadian rhythms, we suggest that haploinsufficiency for a circadian system gene mapping to chromosome 17p11.2 may cause the inversion of circadian rhythm in SMS...
  51. ncbi request reprint Updated diagnostic criteria for CHARGE syndrome: a proposal
    Alain Verloes
    Clinical Genetics Unit, Hopital Robert Debre, Paris, France
    Am J Med Genet A 133:306-8. 2005
  52. ncbi request reprint Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome
    Alain Verloes
    Clinical Genetic Unit, Hospital Robert Debre, Paris, France
    Am J Med Genet A 127:277-87. 2004
    ..Despite the existence of two familial reports, recurrence risk is probably much lower than 25%, although exact figures cannot be extracted from the available literature...
  53. ncbi request reprint The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene
    Yves Sznajer
    Department of Medical Genetics, AP HP Robert DEBRE University Hospital, Paris, France
    Pediatrics 119:e1325-31. 2007
    ..We report the heart defects and links to gene dysfunction in cardiac development in a large cohort of patients with type 1 Noonan syndrome...
  54. pmc Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
    Marie Cognet
    Unité INSERM U 781, Universite Paris Descartes, Paris, France
    Eur J Hum Genet 19:602-6. 2011
    ..3 Mb at the MYCN locus. We found no mutations or deletions in this region, supporting the hypothesis of genetic heterogeneity in FS...
  55. ncbi request reprint Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)
    Yves Sznajer
    Clinical Genetics Unit, INSERM E9935, Hopital Robert Debre, 48 Boulevard Serurier, 75019, Paris, France
    Eur J Pediatr 162:863-7. 2003
    ..The absence of mutations of the DKC1gene in patients with Hoyeraal-Hreidarsson syndrome emphasises the probable implication of one or more other loci...
  56. doi request reprint Microcephaly
    Sandrine Passemard
    Department of Genetics, Hopital Robert Debre, Paris, France Inserm U676 and Medical School, Denis Diderot Paris VII University, Paris, France
    Handb Clin Neurol 111:129-41. 2013
    ..Microcephaly can be associated with hundreds of syndromal congenital anomalies, including many chromosomal disorders. Genetic etiologies of developmental microcephalies are reviewed...
  57. doi request reprint Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
    Carine Le Goff
    Département de génétique, Unité INSERM U781, Universite Paris Descartes, Sorbonne Paris Cité, Hopital Necker Enfants Malades, Paris, France
    Nat Genet 44:85-8. 2012
    ..We also observed decreased expression of downstream TGF-β target genes, supporting the idea of impaired TGF-β-mediated transcriptional control in individuals with Myhre syndrome...
  58. ncbi request reprint Severely delayed epiphyseal ossification dysplasia with normal stature
    Clarisse Baumann
    Clinical Genetic Unit, Hopital Robert Debre, Paris, France
    Am J Med Genet A 120:553-6. 2003
    ..This disorder was not associated with abnormal endocrine function or abnormal Ca/P metabolism. This epiphyseal disorder is compatible with autosomal recessive inheritance...
  59. 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...
  60. pmc VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling
    Sandrine Passemard
    INSERM, U676, Paris, France
    J Clin Invest 121:3071-87. 2011
    ..These results demonstrate that VIP blockade induces microcephaly through Mcph1 signaling and suggest that VIP/Mcph1/Chk1 signaling is key for normal cortical development...
  61. doi request reprint The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders
    Isabelle Bailleul-Forestier
    Paediatric Dentistry Department, Paris 7 University, AP HP, Hôtel Dieu Garancière, Paris, France
    Eur J Med Genet 51:273-91. 2008
    ..And in a second part, the review focus on genetic syndromes with dental involvement...
  62. ncbi request reprint Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae
    Alain Verloes
    Clinical Genetic Unit, Hopital Robert Debre, Paris, France
    Am J Med Genet 113:362-6. 2002
    ..These two patients could belongs to the A4 group in the classification of Maroteaux and Spranger [1991: Pediatr Radiol 2l:293-297], and illustrate the difficulties of a clinical classification of SMD...
  63. pmc PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
    B Keren
    Laboratoire de Biochimie Genetique, Hopital Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    J Med Genet 41:e117. 2004
  64. ncbi request reprint Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
    A 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...
  65. ncbi request reprint Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias
    A Verloes
    Clinical Genetic Unit, INSERM E9935, Hopital Robert Debre, Paris, France
    Clin Dysmorphol 13:205-11. 2004
    ..This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder...
  66. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  67. ncbi request reprint Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 143:799-807. 2007
    ....
  68. ncbi request reprint New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 128:414-7. 2004
    ..Differential diagnosis is discussed and the possibility of the report of a new autosomal recessive syndrome with variable expressivity is raised...
  69. ncbi request reprint Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome
    Vincent El Ghouzzi
    Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, 75015 Paris, France
    Hum Mol Genet 12:357-64. 2003
    ..We conclude that DMC syndrome is consequent upon loss of function of a gene that we propose to name Dymeclin, which may have a role in process of intracellular digestion of proteins...
  70. ncbi request reprint Should chromosome breakage studies be performed in patients with VACTERL association?
    Laurence Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 137:55-8. 2005
    ....
  71. ncbi request reprint Specific genetic disorders and autism: clinical contribution towards their identification
    David Cohen
    Service de Psychiatrie de l Enfant et de l Adolescent, Groupe Hospitalier Pitie Salpetriere, Paris
    J Autism Dev Disord 35:103-16. 2005
    ....
  72. ncbi request reprint A congenital left ventricular diverticulum combined with a complex malformation syndrome
    Martial M Massin
    Division of Paediatric Cardiology, University of Liège at CHR Citadelle, Belgium
    Acta Cardiol 58:207-8. 2003
    ..To our knowledge this case report is the first description of an association with such a malformation syndrome...
  73. doi request reprint Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
    Anouck Schneider
    Service de Genetique, UFR de Medecine, Reims CHU, Hopital Maison Blanche, 45 rue Cognacq Jay, Reims, France
    Eur J Hum Genet 16:680-7. 2008
    ..67+/-0.10 Mb, respectively. The paternal origin of the deleted chromosome 14 was established by genotyping of microsatellites for patient 1 and the phenotype of terminal del(14)(q32) was compared to maternal uniparental disomy 14...
  74. ncbi request reprint CEMARA: a Web dynamic application within a N-tier architecture for rare diseases
    Claude Messiaen
    Paris Descartes University, UPRESS EA 4067 and Service de Biostatistique et d Informatique Médicale, APHP Necker Enfants Malades Hospital, Paris France
    Stud Health Technol Inform 136:51-6. 2008
    ..A description of CEMARA is provided as well as its cooperation with Orphanet and Genatlas, and a presentation of 11803 current records collected by more than 300 health care professionals belonging to more than 70 sites...
  75. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
    ..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
  76. pmc Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
    Joseph D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 144:484-91. 2007
    ..Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes...
  77. pmc The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
    Charles E Schwartz
    J Med Genet 44:472-7. 2007
    ..Thus, it seems that these two X-linked mental retardation syndromes are allelic, with mutations in the MED12 gene...
  78. doi request reprint Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    J Hum Genet 53:834-41. 2008
    ..These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome...
  79. pmc Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
    Corinne Stoetzel
    Laboratoire de Genetique Medicale, Faculte de Medecine, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Am J Hum Genet 80:1-11. 2007
    ....
  80. ncbi request reprint Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
    Claire L Navarro
    INSERM U491, Génétique Médicale et Développement, Faculte de Medecine de Marseille, Hopital d Enfants de la Timone, Marseille, France
    Hum Mol Genet 13:2493-503. 2004
    ..RD is thus one of the most deleterious laminopathies identified so far in humans caused by (primary or secondary) A-type Lamin defects and nuclear structural and functional alterations...
  81. ncbi request reprint Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals
    Gilles Morin
    Clinical Genetic Unit, Department of Paediatrics, University Hospital, Amiens, France
    Clin Dysmorphol 12:237-40. 2003
    ..We report here two unrelated patients with identical features, thus confirming the status of this rare disorder of unknown aetiology...
  82. ncbi request reprint Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review
    Laura Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas ECEMC del Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 122:119-24. 2003
    ..A high resolution G-band karyotype also showed in Case II and III an abnormal chromosome 22, studied by FISH techniques which confirmed a der(22)t(12;22)(q24.3;q13.3) in both cases...
  83. ncbi request reprint Brain anomalies in encephalocraniocutaneous lipomatosis
    Ute Moog
    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
    Am J Med Genet A 143:2963-72. 2007
    ..These data provide evidence that the brain anomalies in ECCL are not primary brain malformations but arise secondary to a mesenchymal defect affecting mostly neural crest derivatives...
  84. ncbi request reprint Orofaciodigital syndrome with cerebral dysgenesis
    Gaetan Lesca
    Clinical Genetics Department, Hotel Dieu, Lyon, France
    Am J Med Genet A 140:757-63. 2006
    ....
  85. ncbi request reprint CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature
    Celine Dupont
    Service d Histologie Embryologie Cytogénétique Biologie de la Reproduction, Hopital Jean Verdier AP HP, Avenue du 14 Juillet 93143, Bondy Cedex, France
    Eur J Hum Genet 11:452-6. 2003
    ....