Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where authors phrase all words ' Lyonnet, S' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 155 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Fuchs, S; Amiel, J; Claudel, S; Lyonnet, S; Corvol, P; Pinet, F
      Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: Evidence for selective lossof G(i) coupling

      MOLECULAR MEDICINE
    2. Amiel, J; Bougeard, G; Francannet, C; Raclin, V; Munnich, A; Lyonnet, S; Frebourg, T
      TP63 gene mutation in ADULT syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Colleaux, L; Rio, M; Heuertz, S; Moindrault, S; Turleau, C; Ozilou, C; Gosset, P; Raoult, O; Lyonnet, S; Cormier-Daire, V; Amiel, J; Le Merrer, M; Picq, M; de Blois, MC; Prieur, M; Romana, S; Cornelis, F; Vekemans, M; Munnich, A
      A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Holder-Espinasse, M; de Blois, MC; Faivre, L; Romana, S; Uteza, Y; Munnich, A; Lyonnet, S; Cormier-Daire, V; Amiel, J
      Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

      CLINICAL DYSMORPHOLOGY
    5. Amiel, J; Faivre, L; Marianowskl, R; Bonnet, D; Couly, G; Manach, Y; Le Merrer, M; Cormier-Daire, V; Munnich, A; Lyonnet, S
      Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases

      CLINICAL DYSMORPHOLOGY
    6. Korsch, E; Steinkuhle, J; Massin, M; Lyonnet, S; Touraine, RL
      Impaired autonomic control of the heart by SOX10 mutation

      EUROPEAN JOURNAL OF PEDIATRICS
    7. Pinson, S; Creange, A; Barbarot, S; Stalder, JF; Chaix, Y; Rodriguez, D; Sanson, M; Bernheim, A; D'Incan, M; Doz, F; Stoll, C; Combemale, P; Kalifa, C; Zeller, J; Teillac-Hamel, D; Lyonnet, S; Zerah, M; Lacour, JP; Guillot, B; Wolkenstein, P
      Neurofibromatosis 1: recommendations for management

      ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
    8. Amiel, J; Attie-Bitach, T; Marianowski, R; Cormier-Daire, V; Abadie, V; Bonnet, D; Gonzales, M; Chemouny, S; Brunelle, F; Munnich, A; Manach, Y; Lyonnet, S
      Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Salomon, R; Tellier, AL; Attie-Bitach, T; Amiel, J; Vekemans, M; Lyonnet, S; Dureau, P; Niaudet, P; Gubler, MC; Broyer, M
      PAX2 mutations in oligomeganephronia

      KIDNEY INTERNATIONAL
    10. Holder-Espinasse, M; Abadie, V; Cormier-Daire, V; Beyler, C; Manach, Y; Munnich, A; Lyonnet, S; Couly, G; Amiel, J
      Pierre Robin sequence: A series of 117 consecutive cases

      JOURNAL OF PEDIATRICS
    11. De Leersnyder, H; de Blois, MC; Claustrat, B; Romana, S; Albrecht, U; von Kleist-Retzow, JC; Delobel, B; Viot, G; Lyonnet, S; Vekemans, M; Munnich, A
      Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

      JOURNAL OF PEDIATRICS
    12. Boudjemline, Y; Fermont, L; Le Bidois, J; Lyonnet, S; Sidi, D; Bonnet, D
      Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study

      JOURNAL OF PEDIATRICS
    13. Bahuau, M; Pelet, A; Vidaud, D; Lamireau, T; Le Bail, B; Munnich, A; Vidaud, M; Lyonnet, S; Lacombe, D
      GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

      JOURNAL OF MEDICAL GENETICS
    14. Edery, P; Le Deist, F; Briard, ML; Debre, M; Munnich, A; Griscelli, C; Fischer, A; Lyonnet, S
      B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

      JOURNAL OF MEDICAL GENETICS
    15. Imessaoudene, B; Bonnefont, JP; Royer, G; Cormier-Daire, V; Lyonnet, S; Lyon, G; Munnich, A; Amiel, J
      MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

      JOURNAL OF MEDICAL GENETICS
    16. Amiel, J; Lyonnet, S
      Hirschsprung disease, associated syndromes, and genetics: a review

      JOURNAL OF MEDICAL GENETICS
    17. Castanet, M; Polak, M; Bonaiti-Pellie, C; Lyonnet, S; Czernichow, P; Leger, J
      Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    18. Sandrini, F; Farmakidis, C; Kirschner, LS; Wu, SM; Tullio-Pelet, A; Lyonnet, S; Metzger, DL; Bourdony, CJ; Tiosano, D; Chan, WY; Stratakis, CA
      Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotropin

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    19. Kenwrick, S; Woffendin, H; Jakins, T; Shuttleworth, SG; Mayer, E; Greenhalgh, L; Whittaker, J; Rugolotto, S; Bardaro, T; Esposito, T; D'Urso, M; Soli, F; Turco, A; Smahi, A; Hamel-Teillac, D; Lyonnet, S; Bonnefont, JP; Munnich, A; Aradhya, S; Kashork, CD; Shaffer, LG; Nelson, DL; Levy, M; Lewis, RA
      Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    20. Amiel, J; Espinosa-Parrilla, Y; Steffann, J; Gosset, P; Pelet, A; Prieur, M; Boute, O; Choiset, A; Lacombe, D; Philip, N; Le Merrer, M; Tanaka, H; Till, M; Touraine, R; Toutain, A; Vekemans, M; Munnich, A; Lyonnet, S
      Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures

      AMERICAN JOURNAL OF HUMAN GENETICS
    21. Aggoun, Y; Sidi, D; Levy, BI; Lyonnet, S; Kachaner, J; Bonnet, D
      Mechanical properties of the common carotid artery in Williams syndrome

      HEART
    22. Tullio-Pelet, A; Salomon, R; Hadj-Rabia, S; Mugnier, C; de Laet, MH; Chaouachi, B; Bakiri, F; Brottier, P; Cattolico, L; Penet, C; Begeot, M; Naville, D; Nicolino, M; Chaussain, JL; Weissenbach, J; Munnich, R; Lyonnet, S
      Mutant WD-repeat protein in triple-A syndrome

      NATURE GENETICS
    23. Hadj-Rabia, S; Salomon, R; Pelet, A; Penet, C; Rotschild, A; de Laet, MH; Chaouachi, B; Hannachi, R; Bakiri, F; Brauner, R; Chaussain, JL; Munnich, A; Lyonnet, S
      Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    24. Amiel, J; Audollent, S; Joly, D; Dureau, P; Salomon, R; Tellier, AL; Auge, J; Bouissou, F; Antignac, C; Gubler, MC; Eccles, MR; Munnich, A; Vekemans, M; Lyonnet, S; Attie-Bitach, T
      PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism

      EUROPEAN JOURNAL OF HUMAN GENETICS
    25. Pingault, V; Guiochon-Mantel, A; Bondurand, N; Faure, C; Lacroix, C; Lyonnet, S; Goosens, M; Landrieu, P
      Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation

      ANNALS OF NEUROLOGY
    26. Abadie, V; Wiener-Vacher, S; Morisseau-Durand, MP; Poree, C; Amiel, J; Amanou, L; Peigne, C; Lyonnet, S; Manac'h, Y
      Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development

      EUROPEAN JOURNAL OF PEDIATRICS
    27. Faivre, L; Bonnefont, JP; Lyonnet, S; Munnich, A; Vekemans, M
      Improvement of cystic fibrosis using antitumoral drugs: a hypothesis

      MEDICAL HYPOTHESES
    28. Lohmann, L; Chelloug, N; Rosales, B; Guerin, C; Lyonnet, S; Jonveaux, P; Simon-Bouy, B
      Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report

      PRENATAL DIAGNOSIS
    29. Tellier, AL; Amiel, J; Delezoide, AL; Audollent, S; Auge, J; Esnault, D; Encha-Razavi, F; Munnich, A; Lyonnet, S; Vekemans, M; Attie-Bitach, T
      Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Castanet, M; Lyonnet, S; Bonaiti-Pellie, C; Polak, M; Czernichow, P; Leger, J
      Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism

      NEW ENGLAND JOURNAL OF MEDICINE
    31. Bolk, S; Pelet, A; Hofstra, RMW; Angrist, M; Salomon, R; Croaker, D; Buys, CHCM; Lyonnet, S; Chakravarti, A
      A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    32. Cormier-Daire, V; Chauvet, ML; Lyonnet, S; Briard, ML; Munnich, A; Le Merrer, M
      Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

      JOURNAL OF MEDICAL GENETICS
    33. Sanlaville, D; Aubry, MC; Dumez, Y; Nolen, MC; Amiel, J; Pinson, MP; Lyonnet, S; Munnich, A; Vekemans, M; Morichon-Delvallez, N
      Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up

      JOURNAL OF MEDICAL GENETICS
    34. Bahuau, M; Laurendeau, I; Pelet, A; Assouline, B; Lamireau, T; Taine, L; Bail, B; Vergnes, P; Gallet, S; Vidaud, M; Lyonnet, S; Lacombe, D; Vidaud, D
      Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

      JOURNAL OF MEDICAL GENETICS
    35. Cross, SJ; Ching, YH; Li, QY; Armstrong-Buisseret, L; Spranger, S; Lyonnet, S; Bonnet, D; Penttinen, M; Jonveaux, P; Leheup, B; Mortier, G; Van Ravenswaaij, C; Gardiner, CA; Brook, JD; Newbury-Ecob, R
      The mutation spectrum in Holt-Oram syndrome

      JOURNAL OF MEDICAL GENETICS
    36. Touraine, RL; Attie-Bitach, T; Manceau, E; Korsch, E; Sarda, P; Pingault, V; Encha-Razavi, F; Pelet, A; Auge, J; Nivelon-Chevallier, A; Holschneider, AM; Munnes, M; Doerfler, W; Goossens, M; Munnich, A; Vekemans, M; Lyonnet, S
      Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

      AMERICAN JOURNAL OF HUMAN GENETICS
    37. Takahashi, M; Iwashita, T; Santoro, M; Lyonnet, S; Lenoir, GM; Billaud, M
      Co-segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss-of-function?

      HUMAN MUTATION
    38. Lyonnet, S; Morichon, N; Dommergues, M; Dumez, Y; Briard, ML; Vekemans, M; Munnich, A
      Role of genetics

      ARCHIVES DE PEDIATRIE
    39. Manouvrier-Hanu, S; Holder-Espinasse, M; Lyonnet, S
      Genetics of limb anomalies in humans

      TRENDS IN GENETICS
    40. Hadj-Rabia, S; Bodemer, C; De Prost, Y; Lyonnet, S
      Prenatal diagnosis in dermatology

      ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
    41. Dridi, SM; Ghomrasseni, S; Bonnet, D; Aggoun, Y; Vabres, P; Bodemer, C; Lyonnet, S; de Prost, Y; Fraitag, S; Pellat, B; Sidi, D; Godeau, G
      Skin elastic fibers in Williams syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    42. Amiel, J; de Lonlay, P; Francannet, C; Picard, A; Bruel, H; Rabier, D; Le Merrer, M; Verhoeven, N; Jakobs, C; Lyonnet, S; Munnich, A
      Facial anomalies in D-2-hydroxyglutaric aciduria

      AMERICAN JOURNAL OF MEDICAL GENETICS
    43. Amiel, J; Cormier-Daire, V; Journeau, P; Mussat, P; Munnich, A; Lyonnet, S
      Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

      JOURNAL OF MEDICAL GENETICS
    44. Bonnet, D; Fermont, L; Kachaner, J; Sidi, D; Amiel, J; Lyonnet, S; Munnich, A
      Tricuspid atresia and conotruncal malformations in five families

      JOURNAL OF MEDICAL GENETICS
    45. Myers, SM; Salomon, R; Goessling, A; Pelet, A; Eng, C; von Deimling, A; Lyonnet, S; Mulligan, LM
      Investigation of germline GFR alpha-1 mutations in Hirschsprung disease

      JOURNAL OF MEDICAL GENETICS
    46. Faivre, L; Delezoide, AL; Narcy, F; Razavi, F; Bouvier, R; Cormier-Daire, V; Briard, ML; Lyonnet, S; Vekemans, M; Munnich, A; Le Merrer, M
      A new lethal syndrome of exomphalos, short limbs, and macrogonadism

      JOURNAL OF MEDICAL GENETICS
    47. Picard, C; Couderc, S; Skojaei, T; Salomon, R; de Lonlay, P; Le Merrer, M; Munnich, A; Lyonnet, S; Amiel, J
      Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement

      CLINICAL GENETICS
    48. Baud, O; Cormier-Daire, V; Lyonnet, S; Desjardins, L; Turleau, C; Doz, F
      Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion

      CLINICAL GENETICS
    49. Kara-Mostefa, A; Raoul, O; Lyonnet, S; Amiel, J; Munnich, A; Vekemans, M; Magnier, S; Ossareh, B; Bonnefont, JP
      Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

      AMERICAN JOURNAL OF HUMAN GENETICS
    50. Baala, L; Rabia, SH; Zlotogora, J; Kabbaj, K; Chhoul, H; Munnich, A; Lyonnet, S; Sefiani, A
      Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13

      AMERICAN JOURNAL OF HUMAN GENETICS
    51. CHESSA M; BUTERA G; BONHOEFFER P; ISERIN L; KACHANER J; LYONNET S; MUNNICH A; SIDI D; BONNET D
      RELATION OF GENOTYPE 22Q11 DELETION TO PHENOTYPE OF PULMONARY VESSELSIN TETRALOGY OF FALLOT AND PULMONARY ATRESIA-VENTRICULAR SEPTAL-DEFECT

      HEART
    52. PINGAULT V; BONDURAND N; KUHLBRODT K; GOERICH DE; PREHU MO; PULITI A; HERBARTH B; HERMANSBORGMEYER I; LEGIUS E; MATTHIJS G; AMIEL J; LYONNET S; CECCHERINI I; ROMEO G; SMITH JC; READ AP; WEGNER M; GOOSSENS M
      SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE

      Nature genetics
    53. SAUGIERVEBER P; MARTIN C; LEMEUR N; LYONNET S; MUNNICH A; DAVID A; HENOCQ A; HERON D; JONVEAUX P; ODENT S; MANOUVRIER S; MONCLA A; MORICHON N; PHILIP N; SATGE D; TOSI M; FREBOURG T
      IDENTIFICATION OF NOVEL L1CAM MUTATIONS USING FLUORESCENCE-ASSISTED MISMATCH ANALYSIS

      Human mutation
    54. CORMIERDAIRE V; SUPERTIFURGA A; MUNNICH A; LYONNET S; GIEDION A; MAROTEAUX P; LEMERRER M
      CLINICAL HOMOGENEITY OF THE STUVE-WIEDEMANN-SYNDROME AND OVERLAP WITHTHE SCHWARTZ-JAMPEL-SYNDROME TYPE-2

      European journal of human genetics
    55. PINGAULT V; BONDURAND N; KUHLBRODT K; GOERICH DE; PREHU MO; PULITI A; LEMORT N; LEGIUS E; MATTHIJS G; AMIEL J; LYONNET S; CECCHERINI I; ROMEO G; CLAYTONSMITH J; READ AP; WEGNER M; GOOSSENS M
      MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE

      European journal of human genetics
    56. VIOT G; BRISSET S; FERT S; OZILOU C; ALLARD L; DEBLOIS MC; RAOUL O; LEMERRER M; LYONNET S; MUNNICH A
      CHROMOSOME ANALYSIS ON FIBROBLASTS OF PATIENTS WITH MCA MR SYNDROME/

      European journal of human genetics
    57. SALOMON R; DORAY B; AMIEL J; PELET A; ATTIE T; BACHY B; MUNNICH A; LYONNET S
      RET LIGANDS (GDNF, NEURTURIN) MUTATIONS IN COMBINATION WITH RET MUTATIONS - A MODEL OF MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE

      European journal of human genetics
    58. DORAY B; SALOMON R; AMIEL J; PELET A; TOURAINE R; BILLAUD M; ATTIE T; BACHY B; MUNNICH A; LYONNET S
      MUTATION OF THE RET LIGAND, NEURTURIN, SUPPORTS MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE

      Human molecular genetics (Print)
    59. DORAY B; SALOMON R; AMIEL J; PELET A; TOURAINE R; BILLAUD M; ATTIE T; BACHY B; MUNNICH A; LYONNET S
      MUTATION OF THE RET LIGAND, NEURTURIN, SUPPORTS MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE (VOL 7, PG 1449, 1998)

      Human molecular genetics (Print)
    60. LIMAL JM; BONNET D; LEBOUC Y; LEHEUP B; LYONNET S
      NOONAN-SYNDROME - AN ENIGMA

      Archives de pediatrie
    61. AMIEL J; LACOMBE D; ATTIE T; MUNNICH A; LYONNET S
      FROM CONGENITAL-MALFORMATIONS TO TUMORS I N CHILDREN

      Archives de pediatrie
    62. Salomon, R; Amiel, J; Attie, T; Pelet, A; Munnich, A; Lyonnet, S
      Molecular insights in a multigenic malformation: Hirschsprung disease.

      PATHOLOGIE BIOLOGIE
    63. ISERIN L; DELONLAY P; VIOT G; SIDI D; KACHANER J; MUNNICH A; LYONNET S; VEKEMANS M; BONNET D
      PREVALENCE OF THE MICRODELETION 22Q11 IN NEWBORN-INFANTS WITH CONGENITAL CONOTRUNCAL CARDIAC ANOMALIES

      European journal of pediatrics
    64. CORMIERDAIRE V; MUNNICH A; LYONNET S; RUSTIN P; DELEZOIDE AL; MAROTEAUX P; LEMERRER M
      PRESENTATION OF 6 CASES OF STUVE-WIEDEMANN-SYNDROME

      Pediatric radiology
    65. VABRES P; DELONLAY P; AMIEL J; LYONNET S; MUNNICH A; DEPROST Y
      BLUE-RED AND FUSCO-CERULEUS MACULES - EARLY CUTANEOUS SIGNS OF NEUROFIBROMATOSIS TYPE-I IN CHILDHOOD

      Annales de dermatologie et de venereologie
    66. DELONLAYDEBENEY P; DEBLOIS MC; BONNET D; AMIEL J; ABADIE V; PICQ M; LYONNET S; SIDI D; MUNNICH A; VEKEMANS M; CORMIERDAIRE V
      EBSTEIN ANOMALY ASSOCIATED WITH REARRANGEMENTS OF CHROMOSOMAL REGION 11Q

      American journal of medical genetics
    67. CORMIERDAIRE V; SUPERTIFURGA A; MUNNICH A; LYONNET S; RUSTIN P; DELEZOIDE AL; DELONLAY P; GIEDION A; MAROTEAUX P; LEMERRER M
      CLINICAL HOMOGENEITY OF THE STUVE-WIEDEMANN-SYNDROME AND OVERLAP WITHTHE SCHWARTZ-JAMPEL-SYNDROME TYPE-2

      American journal of medical genetics
    68. TELLIER AL; CORMIERDAIRE V; ABADIE V; AMIEL J; SIGAUDY S; BONNET D; DELONLAYDEBENEY P; MORRISSEAUDURAND MP; HUBERT P; MICHEL JL; JAN D; DOLLFUS H; BAUMANN C; LABRUNE P; LACOMBE D; PHILIP N; LEMERRER M; BRIARD ML; MUNNICH A; LYONNET S
      CHARGE SYNDROME - REPORT OF 47 CASES AND REVIEW

      American journal of medical genetics
    69. BAHUAU M; HOUDAYER C; ASSOULINE B; BLANCHETBARDON C; LEMERRER M; LYONNET S; GIRAUD S; RECAN D; LAKHDAR H; VIDAUD M; VIDAUD D
      NOVEL RECURRENT NONSENSE MUTATION CAUSING NEUROFIBROMATOSIS TYPE-1 (NF1) IN A FAMILY SEGREGATING BOTH NF1 AND NOONAN-SYNDROME

      American journal of medical genetics
    70. Attie-Bitach, T; Abitbol, M; Gerard, M; Delezoide, AL; Auge, J; Pelet, A; Amiel, J; Pachnis, V; Munnich, A; Lyonnet, S; Vekemans, M
      Expression of the RET proto-oncogene in human embryos

      AMERICAN JOURNAL OF MEDICAL GENETICS
    71. PELET A; GENESTE O; EDERY P; PASINI A; CHAPPUIS S; ATTIE T; MUNNICH A; LENOIR G; LYONNET S; BILLAUD M
      VARIOUS MECHANISMS CAUSE RET-MEDIATED SIGNALING DEFECTS IN HIRSCHSPRUNGS-DISEASE

      The Journal of clinical investigation
    72. VIOTSZOBOSZLAI G; AMIEL J; DOZ F; PRIEUR M; COUTURIER J; ZUCKER JN; HENRY I; MUNNICH A; VEKEMANS M; LYONNET S
      WILMS-TUMOR AND GONADAL-DYSGENESIS IN A CHILD WITH THE 2Q37.1 DELETION SYNDROME

      Clinical genetics
    73. Soussi, T; Lyonnet, S; Billaud, M
      Ret (Rearranged during transfection)

      BULLETIN DU CANCER
    74. AMIEL J; SALOMON R; ATTIE T; PELET A; TRANG H; MOKHTARI M; GAULTIER C; MUNNICH A; LYONNET S
      MUTATIONS OF THE RET-GDNF SIGNALING PATHWAY IN ONDINES-CURSE

      American journal of human genetics
    75. Pasini, A; Chappuis-Flament, S; Geneste, O; Fournier, L; Schuffenecker, I; Michiels, FM; Feunteun, J; Pelet, A; Lyonnet, S; De Vita, G; Santoro, M; Lenoir, GM; Giraud, S; Billaud, M
      RET, hereditary cancers and congenital malformation: A deregulation model of a tyrosine kinase receptor in human pathology

      EUROCANCER 98
    76. LI QY; NEWBURYECOB RA; TERRETT JA; WILSON DI; CURTIS ARJ; YI CH; GEBUHR T; BULLEN PJ; ROBSON SC; STRACHAN T; BONNET D; LYONNET S; YOUNG ID; RAEBURN JA; BUCKLER AJ; LAW DJ; BROOK JD
      HOLT-ORAM SYNDROME IS CAUSED BY MUTATIONS IN TBX5, A MEMBER OF THE BRACHYURY (T) GENE FAMILY

      Nature genetics
    77. BIDAUD C; SALOMON R; VANCAMP G; PELET A; ATTIE T; ENG C; BONDUELLE M; AMIEL J; NIHOULFEKETE C; WILLEMS PJ; MUNNICH A; LYONNET S
      ENDOTHELIN-3 GENE-MUTATIONS IN ISOLATED AND SYNDROMIC HIRSCHSPRUNG-DISEASE

      European journal of human genetics
    78. BIDAUD C; SALOMON R; EDERY P; VANCAMP G; PELET A; BONDUELLE M; NIHOULFEKETE C; WILLEMS PJ; MUNNICH A; LYONNET S
      MUTATIONS OF THE EDN3 GENE IN ISOLATED AND SYNDROMIC HIRSCHSPRUNGS-DISEASE

      Gastroenterologie clinique et biologique
    79. CHESSA M; AGGOUN Y; BONHOEFFER P; BUTERA G; LYONNET S; BONNET D
      GENETIC-HETEROGENEITY IN INTERATRIAL DEFE CT

      Rivista italiana di pediatria
    80. EDERY P; ENG C; MUNNICH A; LYONNET S
      RET IN HUMAN-DEVELOPMENT AND ONCOGENESIS

      BioEssays
    81. CORMIERDAIRE V; LEMERRER M; GIGAREL N; MORICHON N; PRIEUR M; LYONNET S; VEKEMANS M; MUNNICH A
      PREZYGOTIC ORIGIN OF THE ISOCHROMOSOME-12P IN PALLISTER-KILLIAN-SYNDROME

      American journal of medical genetics
    82. BONNET D; CORMIERDAIRE V; KACHANER J; SZEZEPANSKI I; SOUILLARD P; SIDI D; MUNNICH A; LYONNET S
      MICROSATELLITE DNA MARKERS DETECTS 95-PERCENT OF CHROMOSOME 22Q11 DELETIONS

      American journal of medical genetics
    83. ATTIE T; SALOMON R; VEKEMANS M; LYONNET S
      THE RET GENE IN RENAL DEVELOPMENT AND ORG ANOGENESIS

      Annales de pediatrie
    84. BADERMEUNIER B; TCHERNIA G; MIELOT F; FONTAINE JL; THOMAS C; LYONNET S; LAVERGNE JM; DOMMERGUES JP
      OCCURRENCE OF MYELOPROLIFERATIVE DISORDER IN PATIENTS WITH NOONAN-SYNDROME

      The Journal of pediatrics
    85. DELONLAYDEBENEY P; CORMIERDAIRE V; AMIEL J; ABADIE V; ODENT S; PAUPE A; COUDERC S; TELLIER AL; BONNET D; PRIEUR M; VEKEMANS M; MUNNICH A; LYONNET S
      FEATURES OF DIGEORGE-SYNDROME AND CHARGE ASSOCIATION IN 5 PATIENTS

      Journal of Medical Genetics
    86. AMIEL J; ATTIE T; SALOMON R; EDERY P; PELET A; NIHOULFEKETE C; MUNNICH A; LYONNET S
      MOLECULAR-BASIS OF HIRSCHSPRUNGS-DISEASE

      Gut
    87. BOLK S; PELET A; HOFSTRA RMW; SALOMON B; ANGRIST M; BUYS CHCM; LYONNET S; CHAKRAVARTI A
      MULTIGENIC INHERITANCE OF HIRSCHSPRUNG-DISEASE

      American journal of human genetics
    88. CORMIERDAIRE V; CHAUVET ML; LYONNET S; MUNNICH A; LEMERRER M
      THE GENITOPATELLAR SYNDROME - A NEW ENTITY WITH ABSENT PATELLA, SCROTAL HYPOPLASIA, DYSPLASTIC KIDNEYS, FACIAL DYSMORPHISM AND MENTAL-RETARDATION

      American journal of human genetics
    89. DELONLAYDEBENEY P; CORMIERDAIRE V; AMIEL J; ABADIE V; BONNET D; PRIEUR M; VEKEMANS M; MUNNICH A; LYONNET S
      DIGEORGE-SYNDROME AND CHARGE ASSOCIATION IN 5 PATIENTS

      American journal of human genetics
    90. EDERY P; PEDRONNO S; TOUTAIN A; SANNIER N; LYONNET S; MUNNICH A; VEKEMANS M; DEBLOIS MC
      TETRASOMY 9P - PARENTAL ORIGIN AND MECHANISM OF THE ISOCHROMOSOME 9P IN TETRASOMY 9P

      American journal of human genetics
    91. ATTIE T; AUGE J; DELEZOIDE AL; MUNNICH A; LYONNET S; VEKEMANS M
      EXPRESSION OF GENES INVOLVED IN THE RET SIGNALING PATHWAY DURING EARLY HUMAN EMBRYOGENESIS

      American journal of human genetics
    92. AMIEL J; SALOMON R; ATTIE T; MOKHTARI M; TRANG H; GAULTIER C; MUNNICH A; LYONNET S
      IMPAIRED RET SIGNALING PATHWAY IN CONGENITAL CENTRAL HYPOVENTILATION SYNDROME

      American journal of human genetics
    93. PELET A; GENESTE O; EDERY P; CHAPPUIS S; PASINI A; ATTIE T; MUNNICH A; LENOIR G; LYONNET S; BILLAUD M
      VARIOUS MECHANISMS CAUSE RET-MEDIATED SIGNALING DEFECTS IN HIRSCHSPRUNG-DISEASE

      American journal of human genetics
    94. DORAY B; SALOMAN R; PELET A; AMIEL J; MUNNICH A; LYONNET S
      EXCLUSION OF ENDOTHELIN-1 AS A CANDIDATE GENE IN MAJOR BRANCHIAL ARCHANOMALY SYNDROMES IN HUMAN

      American journal of human genetics
    95. BIENVENU T; BOUSQUET S; LYONNET S; KAPLAN JC; BELDJORD C
      1283-DEL-A - A NOVEL MUTATION IN EXON-8 OF THE CYSTIC-FIBROSIS GENE

      Human heredity
    96. SALOMON R; ATTIE T; PELET A; BIDAUD C; ENG C; AMIEL J; SARNACKI S; GOULET O; RICOUR C; NIHOULFEKETE C; MUNNICH A; LYONNET S
      GERMLINE MUTATIONS OF THE RET LIGAND GDNF ARE NOT SUFFICIENT TO CAUSEHIRSCHSPRUNG DISEASE

      Nature genetics
    97. VILLARD L; GECZ J; MATTEI JF; FONTES M; SAUGIERVEBER P; MUNNICH A; LYONNET S
      XNP MUTATION IN A LARGE FAMILY WITH JUBERG-MARSIDI SYNDROME

      Nature genetics
    98. EDERY P; ATTIE T; AMIEL J; PELET A; ENG C; HOFSTRA RMW; MARTELLI H; BIDAUD C; MUNNICH A; LYONNET S
      MUTATION OF THE ENDOTHELIN-3 GENE IN THE WAARDENBURG-HIRSCHSPRUNG DISEASE (SHAH-WAARDENBURG SYNDROME)

      Nature genetics
    99. AMIEL J; ATTIE T; JAN D; PELET A; EDERY P; BIDAUD C; LACOMBE D; TAM P; SIMEONI J; FLORI E; NIHOULFEKETE C; MUNNICH A; LYONNET S
      HETEROZYGOUS ENDOTHELIN RECEPTOR-B (EDNRB) MUTATIONS IN ISOLATED HIRSCHSPRUNG DISEASE

      Human molecular genetics
    100. BONNET JP; TILL M; EDERY P; ATTIE T; LYONNET S
      WAARDENBURG-HIRSCHSPRUNG DISEASE IN 2 SISTERS - A POSSIBLE CLUE TO THE GENETICS OF THIS ASSOCIATION

      European journal of pediatric surgery


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/02/20 alle ore 08:33:48