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    1. Mahieu-Caputo, D; Sonigo, P; Amiel, J; Simon, I; Aubry, MC; Lemerrer, M; Delezoide, AL; Gigarel, N; Dommergues, M; Dumez, Y
      Prenatal diagnosis of sporadic Apert syndrome: A sequential diagnostic approach combining three-dimensional computed tomography and molecular biology

      FETAL DIAGNOSIS AND THERAPY
    2. Wysolmerski, JJ; Cormier, S; Philbrick, WM; Dann, P; Zhang, JP; Roume, J; Delezoide, AL; Silve, C
      Absence of functional type 1 parathyroid hormone (PTH)/PTH-related proteinreceptors in humans is associated with abnormal breast development and tooth impaction

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    3. Fougerousse, F; Anderson, LVB; Delezoide, AL; Suel, L; Durand, M; Beckmann, JS
      Calpain3 expression during human cardiogenesis

      NEUROMUSCULAR DISORDERS
    4. Thiery, E; Gosset, P; Damotte, D; Delezoide, AL; de Saint-Sauveur, N; Vayssettes, C; Creau, N
      Developmentally regulated expression of the murine ortholog of the potassium channel KIR4.2 (KCNJ15)

      MECHANISMS OF DEVELOPMENT
    5. Rachidi, M; Lopes, C; Gassanova, S; Sinet, PM; Vekemans, M; Attie, T; Delezoide, AL; Delabar, JM
      Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development

      MECHANISMS OF DEVELOPMENT
    6. Guipponi, M; Brunschwig, K; Chamoun, Z; Scott, HS; Shibuya, K; Kudoh, J; Delezoide, AL; El Samadi, S; Chettouh, Z; Rossier, C; Shimizu, N; Mueller, F; Delabar, JM; Antonarakis, SE
      C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning

      GENOMICS
    7. Legeai-Mallet, L; Rossi, A; Benoist-Lasselin, C; Piazza, R; Malet, JF; Delezoide, AL; Munnich, A; Bonaventure, J; Zylberberg, L
      EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses

      JOURNAL OF BONE AND MINERAL RESEARCH
    8. Fert-Ferrer, S; Guichet, A; Tantau, J; Delezoide, AL; Ozilou, C; Romana, SP; Gosset, P; Viot, G; Loison, S; Moraine, C; Morichon-Delvallez, N; Turleau, C; Vekemans, M; Prieur, M
      Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features

      PRENATAL DIAGNOSIS
    9. 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
    10. Mahieu-Caputo, D; Dommergues, M; Delezoide, AL; Lacoste, M; Cai, Y; Narcy, F; Jolly, D; Gonzales, M; Dumez, Y; Gubler, MC
      Twin-to-twin transfusion syndrome - Role of the fetal renin-angiotensin system

      AMERICAN JOURNAL OF PATHOLOGY
    11. Benachi, A; Delezoide, AL; Chailley-Heu, B; Preece, M; Bourbon, JR; Ryder, T
      Ultrastructural evaluation of lung maturation in a sheep model of diaphragmatic hernia and tracheal occlusion

      AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
    12. Odent, S; Attie-Bitach, T; Blayau, M; Mathieu, M; Auge, J; Delezoide, AL; Le Gall, JY; Le Marec, B; Munnich, A; David, V; Vekemans, M
      Expression of the Sonic hedgehog (SHH) gene during early human developmentand phenotypic expression of new mutations causing holoprosencephaly

      HUMAN MOLECULAR GENETICS
    13. Odent, S; Attie-Bitach, T; Blayau, M; Mathieu, M; Auge, J; Delezoide, AL; Le Gall, JY; Le Marec, B; Munnich, A; David, V; Vekemans, M
      Expression of the Sonic hedgehog (SHH) gene during early human developmentand phenotypic expression of new mutations causing holoprosencephaly (vol 8, pg 1683, 1999)

      HUMAN MOLECULAR GENETICS
    14. Lajeunie, E; Cameron, R; El Ghouzzi, V; de Parseval, N; Journeau, P; Gonzales, M; Delezoide, AL; Bonaventure, J; Le Merrer, M; Renier, D
      Clinical variability in patients with Apert's syndrome

      JOURNAL OF NEUROSURGERY
    15. Odent, S; Loget, P; Le Marec, B; Delezoide, AL; Maroteaux, P
      Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia

      JOURNAL OF MEDICAL GENETICS
    16. 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
    17. BENACHI A; CHAILLEYHEU B; DELEZOIDE AL; DOMMERGUES M; BRUNELLE F; DUMEZ Y; BOURBON JR
      LUNG GROWTH AND MATURATION AFTER TRACHEAL OCCLUSION IN DIAPHRAGMATIC-HERNIA

      American journal of respiratory and critical care medicine
    18. LAURENT A; ROUILLAC C; DELEZOIDE AL; GIOVANGRANDI Y; VEKEMANS M; BELLET D; ABITBOL M; VIDAUD M
      INSULIN-LIKE-4 (INSL4) GENE-EXPRESSION IN HUMAN EMBRYONIC AND TROPHOBLASTIC TISSUES

      Molecular reproduction and development
    19. LOPES C; DELEZOIDE AL; GASSANOVAMAUGENRE S; VEKEMANS M; SINET PM; DELABAR JM
      A NOVEL TRANSCRIPT CER-11 FROM THE DOWN-SYNDROME CHROMOSOMAL REGION, CHARACTERIZATION AND PATTERN OF EXPRESSION

      European journal of human genetics
    20. BURLET P; HUBER C; BERTRANDY S; LUDOSKY MA; ZWAENEPOEL I; CLERMONT O; ROUME J; DELEZOIDE AL; CARTAUD J; MUNNICH A; LEFEBVRE S
      THE DISTRIBUTION OF SMN PROTEIN COMPLEX IN HUMAN FETAL TISSUES AND ITS ALTERATION IN SPINAL MUSCULAR-ATROPHY

      Human molecular genetics (Print)
    21. LOPES C; GASSANOVAMAUGENRE S; VACHER S; DAHMANE N; MOUN ZC; DUFRESNEZACHARIA MC; CHETTOUH Z; DELEZOIDE AL; VEKEMANS M; CHARRON G; BLOCH B; SINET PM; DELABAR JM
      EXPRESSION MAPPING OF NEW TRANSCRIPTS FROM THE DOWN-SYNDROME CHROMOSOMAL REGION

      European journal of neuroscience
    22. DELEZOIDE AL; BENOISTLASSELIN C; LEGEAIMALLET L; LEMERRER M; MUNNICH A; VEKEMANS M; BONAVENTURE J
      SPATIOTEMPORAL EXPRESSION OF FGFR-1, FGFR-2 AND FGFR-3 GENES DURING HUMAN EMBRYO-FETAL OSSIFICATION

      Mechanisms of development
    23. FOUGEROUSSE F; DURAND M; SUEL L; POURQUIE O; DELEZOIDE AL; ROMERO NB; ABITBOL M; BECKMANN JS
      EXPRESSION OF GENES (CAPN3, SGCA, SGCB, AND TTN) INVOLVED IN PROGRESSIVE MUSCULAR-DYSTROPHIES DURING EARLY HUMAN-DEVELOPMENT

      Genomics
    24. SONIGO PC; RYPENS FF; CARTERET M; DELEZOIDE AL; BRUNELLE FO
      MR-IMAGING OF FETAL CEREBRAL ANOMALIES

      Pediatric radiology
    25. CORMIERDAIRE V; MUNNICH A; LYONNET S; RUSTIN P; DELEZOIDE AL; MAROTEAUX P; LEMERRER M
      PRESENTATION OF 6 CASES OF STUVE-WIEDEMANN-SYNDROME

      Pediatric radiology
    26. 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
    27. 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
    28. LEGEAIMALLET L; BENOISTLASSELIN C; DELEZOIDE AL; MUNNICH A; BONAVENTURE J
      FIBROBLAST-GROWTH-FACTOR RECEPTOR 3 MUTATIONS PROMOTE APOPTOSIS BUT DO NOT ALTER CHONDROCYTE PROLIFERATION IN THANATOPHORIC DYSPLASIA (VOL 273, PG 13007, 1998)

      The Journal of biological chemistry
    29. LEGEAIMALLET L; BENOISTLASSELIN C; DELEZOIDE AL; MUNNICH A; BONAVENTURE J
      FIBROBLAST GROWTH-FACTOR RECEPTOR-3 MUTATIONS PROMOTE APOPTOSIS BUT DO NOT ALTER CHONDROCYTE PROLIFERATION IN THANATOPHORIC DYSPLASIA

      The Journal of biological chemistry
    30. DELEZOIDE AL; LASSELINBENOIST C; LEGEAIMALLET L; BRICE P; SENEE V; YAYON A; MUNNICH A; VEKEMANS M; BONAVENTURE J
      ABNORMAL FGFR-3 EXPRESSION IN CARTILAGE OF THANATOPHORIC DYSPLASIA FETUSES

      Human molecular genetics
    31. MORNET E; MULLER F; LENVOISEFURET A; DELEZOIDE AL; COL JY; SIMONBOUY B; SERRE JL
      SCREENING OF THE C677T MUTATION ON THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN FRENCH PATIENTS WITH NEURAL-TUBE DEFECTS

      Human genetics
    32. CESSOT F; THEOPHILE D; BEAUVAIS AM; DELEZOIDE AL; VEKEMANS M
      DETECTION OF CHROMOSOME ANEUPLOIDIES BY USING FLUORESCENCE IN-SITU HYBRIDIZATION ON FETAL TISSUE-SECTIONS

      Annales de pathologie
    33. BENACHI A; DOMMERGUES M; DELEZOIDE AL; BOURBON J; DUMEZ Y; BRUNNELLE F
      TRACHEAL OBSTRUCTION IN EXPERIMENTAL, DIAPHRAGMATIC-HERNIA - AN ENDOSCOPIC APPROACH IN THE FETAL LAMB

      Prenatal diagnosis
    34. LOSHKAJIAN A; ROUME J; STANESCU V; DELEZOIDE AL; STAMPF F; MAROTEAUX P
      FAMILIAL BLOMSTRAND CHONDRODYSPLASIA WITH ADVANCED SKELETAL MATURATION - FURTHER DELINEATION

      American journal of medical genetics
    35. ROSSI A; BONAVENTURE J; DELEZOIDE AL; SUPERTIFURGA A; CETTA G
      UNDERSULFATION OF CARTILAGE PROTEOGLYCANS EX-VIVO AND INCREASED CONTRIBUTION OF AMINO-ACID SULFUR TO SULFATION IN-VITRO IN MCALISTER-DYSPLASIA ATELOSTEOGENESIS TYPE-2

      European journal of biochemistry
    36. FAIVRE L; DELEZOIDE AL; NARCY F; RAZAVI F; BOUVIER R; BRIARD ML; MAROTEAUX P; MUNNICH A; VEKEMANS M; LEMERRER M
      EXOMPHALOS, SHORT LIMBS AND MACROGONADISM IN 7 FETUSES - A NOVEL LETHAL SYNDROME

      American journal of human genetics
    37. 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
    38. BENOISTLASSELIN C; BONAVENTURE J; VEKEMANS M; DELEZOIDE AL
      FIBROBLAST GROWTH-FACTOR RECEPTOR EXPRESSION IN DEVELOPING HUMAN SKELETON

      American journal of human genetics
    39. LEGEAIMALLET L; BENOISTLASSELIN G; DELEZOIDE AL; YAYON A; MUNNICH A; BONAVENTURE J
      FGFR-3 MUTATIONS IN THANATOPHORIC DYSPLASIA FETUSES DO NOT IMPAIR CHONDROCYTE PROLIFERATION BUT PROMOTE APOPTOSIS

      American journal of human genetics
    40. GAILLARD D; BOUVIER R; SCHEINER C; NESSMANN C; DELEZOIDE AL; DECHELOTTE P; LEHEUP B; CORDIER MP; CARLES D; LALLEMAND A
      MECONIUM ILEUS AND INTESTINAL ATRESIA IN FETUSES AND NEONATES

      PEDIATRIC PATHOLOGY & LABORATORY MEDICINE
    41. ROUSSEAU F; ELGHOUZZI V; DELEZOIDE AL; LEGEAIMALLET L; LEMERRER M; MUNNICH A; BONAVENTURE J
      MISSENSE FGFR3 MUTATIONS CREATE CYSTEINE RESIDUES IN THANATOPHORIC DWARFISM TYPE-I (TD1)

      Human molecular genetics
    42. SONIGO P; ELMALEH A; FERMONT L; DELEZOIDE AL; MIRLESSE V; BRUNELLE F
      PRENATAL MRI DIAGNOSIS OF FETAL CEREBRAL TUBEROUS SCLEROSIS

      Pediatric radiology
    43. DOMMERGUES M; MAHIEUCAPUTO D; FALLETBIANCO C; MIRLESSE V; AUBRY MC; DELEZOIDE AL; DUMEZ Y; LEBON P
      FETAL SERUM INTERFERON-ALPHA SUGGESTS VIRAL-INFECTION AS THE ETIOLOGYOF UNEXPLAINED LATERAL CEREBRAL VENTRICULOMEGALY

      Prenatal diagnosis
    44. RYPENS F; SONIGO P; AUBRY MC; DELEZOIDE AL; CESSOT F; BRUNELLE F
      PRENATAL MR DIAGNOSIS OF A THICK CORPUS-CALLOSUM

      American journal of neuroradiology
    45. ROSSI A; BONAVENTURE J; DELEZOIDE AL; CETTA G; SUPERTIFURGA A
      UNDERSULFATION OF PROTEOGLYCANS SYNTHESIZED BY CHONDROCYTES FROM A PATIENT WITH ACHONDROGENESIS TYPE 1B HOMOZYGOUS FOR AN L483P SUBSTITUTION IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER

      The Journal of biological chemistry
    46. SOUSAUVA M; TOUCHOT A; FERMONT L; PIOT D; DELEZOIDE AL; SERRAF A; LACOURGAYET F; ROUSSIN R; BRUNIAUX J; PLANCHE C
      AORTICO-LEFT VENTRICULAR TUNNEL IN FETUSES AND INFANTS

      The Annals of thoracic surgery
    47. ROUSSEAU F; SAUGIER P; LEMERRER M; MUNNICH A; DELEZOIDE AL; MAROTEAUX P; BONAVENTURE J; NARCY F; SANAK M
      STOP CODON FGFR3 MUTATIONS IN THANATOPHORIC DWARFISM TYPE-1

      Nature genetics
    48. DOMMERGUES M; MANDELBROT L; DELEZOIDE AL; AUBRY MC; FERMONT L; CAPUTOMAHIEU D; DUMEZ Y
      TWIN-TO-TWIN TRANSFUSION SYNDROME - SELECTIVE FETICIDE BY EMBOLIZATION OF THE HYDROPIC FETUS

      Fetal diagnosis and therapy
    49. GERARD M; ABITBOL M; DELEZOIDE AL; DUFIER JL; MALLET J; VEKEMANS M
      PAX-GENES EXPRESSION DURING HUMAN EMBRYON IC-DEVELOPMENT, A PRELIMINARY-REPORT

      Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
    50. BONAVENTURE J; COHENSOLAL L; RITVANIEMI P; VANMALDERGEM L; KADHOM N; DELEZOIDE AL; MAROTEAUX P; PROCKOP DJ; ALAKOKKO L
      SUBSTITUTION OF ASPARTIC-ACID FOR GLYCINE AT POSITION-310 IN TYPE-II COLLAGEN PRODUCES ACHONDROGENESIS-II, AND SUBSTITUTION OF SERINE AT POSITION-805 PRODUCES HYPOCHONDROGENESIS - ANALYSIS OF GENOTYPE-PHENOTYPE RELATIONSHIPS

      Biochemical journal
    51. DOMMERGUES M; LEMERRER M; COULY G; DELEZOIDE AL; DUMEZ Y
      PRENATAL-DIAGNOSIS OF CLEFT-LIP AT 11 MENSTRUAL WEEKS USING EMBRYOSCOPY IN THE VANDERWOUDE SYNDROME

      Prenatal diagnosis
    52. ABITBOL M; GERARO M; ROUSTAN P; SAHLY I; DELEZOIDE AL; VEKEMANS M; DUFLER JL
      PAX-6 GENE-EXPRESSION PATTERN DURING HUMAN EMBRYONIC-DEVELOPMENT

      Investigative ophthalmology & visual science
    53. ABITBOL M; GERARD MM; DELEZOIDE AL; SAHLY I; RIBEAUDEAU F; MALLET J; VEKEMANS M; DUFIER JL
      PAX6-GENE EXPRESSION DURING HUMAN EMBRYONIC-DEVELOPMENT AT THE CELLULAR-LEVEL

      Vision research
    54. ABITBOL M; GERARD M; DELEZOIDE AL; SAHLY I; RIBEAUDEAU F; MALLET J; VEKEMANS M; DUFIER JL
      PAX6-GENE EXPRESSION DURING HUMAN EMBRYONIC-DEVELOPMENT AT THE CELLULAR-LEVEL

      American journal of human genetics
    55. GERARD M; ABITBOL M; DELEZOIDE AL; MALLET J; VEKEMANS M
      CELLULAR PAX3-GENE EXPRESSION DURING HUMAN EMBRYONIC-DEVELOPMENT

      American journal of human genetics
    56. DOMMERGUES M; PETITJEAN J; AUBRY MC; DELEZOIDE AL; NARCY F; FALLETBIANCO C; FREYMUTH F; DUMEZ Y; LEBON P
      FETAL ENTEROVIRAL INFECTION WITH CEREBRAL VENTRICULOMEGALY AND CARDIOMYOPATHY

      Fetal diagnosis and therapy
    57. DELEZOIDE AL; VEKEMANS M
      WAARDENBURG SYNDROME IN MAN AND SPLOTCH MUTANTS IN THE MOUSE - A PARADIGM OF THE USEFULNESS OF LINKAGE AND SYNTENY HOMOLOGIES IN MOUSE AND MAN FOR THE GENETIC-ANALYSIS OF HUMAN CONGENITAL-MALFORMATIONS

      Biomedicine & pharmacotherapy
    58. WERNER H; MIRLESSE V; JACQUEMARD F; SONIGO P; DELEZOIDE AL; GONZALES M; BRUNELLE F; FERMONT L; DAFFOS F
      PRENATAL-DIAGNOSIS OF TUBEROUS SCLEROSIS - USE OF MAGNETIC-RESONANCE-IMAGING AND ITS IMPLICATIONS FOR PROGNOSIS

      Prenatal diagnosis
    59. VERLOES A; NARCY F; GRATTAGLIANO B; DELEZOIDE AL; GUIBAUD P; SCHAAPS JP; LEMERRER M; MAROTEAUX P
      OSTEOCRANIOSTENOSIS

      Journal of Medical Genetics
    60. VANDERHEIJDEN BJ; CARLUS C; NARCY F; BAVOUX F; DELEZOIDE AL; GUBLER MC
      PERSISTENT ANURIA, NEONATAL DEATH, AND RENAL MICROCYSTIC LESIONS AFTER PRENATAL EXPOSURE TO INDOMETHACIN

      American journal of obstetrics and gynecology
    61. ABITBOL M; MENINI C; DELEZOIDE AL; RHYNER T; VEKEMANS M; MALLET J
      NUCLEUS BASALIS MAGNOCELLULARIS AND HIPPOCAMPUS ARE THE MAJOR SITES OF FMR-1 EXPRESSION IN THE HUMAN FETAL BRAIN

      Nature genetics
    62. MORICHONDELVALLEZ N; DELEZOIDE AL; VEKEMANS M
      HOLOPROSENCEPHALY AND SACRAL AGENESIS IN A FETUS WITH A TERMINAL DELETION 7Q36-]7QTER

      Journal of Medical Genetics


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Documento generato il 07/06/20 alle ore 04:50:55