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    1. Hussain, NK; Jenna, S; Glogauer, M; Quinn, CC; Wasiak, S; Guipponi, M; Antonarakis, SE; Kay, BK; Stossel, TP; Lamarche-Vane, N; McPherson, PS
      Endocytic protein intersectin-I regulates actin assembly via Cdc42 and N-WASP

      NATURE CELL BIOLOGY
    2. Deutsch, S; Iseli, C; Bucher, P; Antonarakis, SE; Scott, HS
      A cSNP map and database for human chromosome 21

      GENOME RESEARCH
    3. Antonarakis, SE
      BACking up the promises

      NATURE GENETICS
    4. Scott, HS; Kudoh, J; Wattenhofer, M; Shibuya, K; Berry, A; Chrast, R; Guipponi, M; Wang, J; Kawasaki, K; Asakawa, S; Minoshima, S; Younus, F; Mehdi, SQ; Radhakrishna, U; Papasavvas, MP; Gehrig, C; Rossier, C; Korostishevsky, M; Gal, A; Shimizu, N; Bonne-Tamir, B; Antonarakis, SE
      Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

      NATURE GENETICS
    5. Heino, M; Peterson, P; Kudoh, J; Shimizu, N; Antonarakis, SE; Scott, HS; Krohn, K
      APECED mutations in the autoimmune regulator (AIRE) gene

      HUMAN MUTATION
    6. Masmoudi, S; Antonarakis, SE; Schwede, T; Ghorbel, AM; Gratri, M; Pappasavas, MP; Drira, M; Elgaied-Boutila, A; Wattenhofer, M; Rossier, C; Scott, HS; Ayadi, H; Guipponi, M
      Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

      HUMAN MUTATION
    7. Radhakrishna, U; Senol, S; Herken, H; Gucuyener, K; Gehrig, C; Blouin, JL; Akarsu, NA; Antonarakis, SE
      An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree

      EUROPEAN JOURNAL OF HUMAN GENETICS
    8. Antonarakis, SE
      Chromosome 21: from sequence to applications

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    9. Reymond, A; Friedli, M; Henrichsen, CN; Chapot, F; Deutsch, S; Ucla, C; Rossier, C; Lyle, R; Guipponi, M; Antonarakis, SE
      From PREDs and open reading frames to cDNA isolation: Revisiting the humanchromosome 21 transcription map

      GENOMICS
    10. Paoloni-Giacobino, A; Chen, HM; Peitsch, MC; Rossier, C; Antonarakis, SE
      Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 (vol 44, pg 309, 1997)

      GENOMICS
    11. Bartoloni, L; Blouin, JL; Maiti, AK; Sainsbury, A; Rossier, C; Gehrig, C; She, JX; Marron, MP; Lander, ES; Meeks, M; Chung, E; Armengot, M; Jorissen, M; Scott, HS; Delozier-Blanchet, CD; Gardiner, RM; Antonarakis, SE
      Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia

      GENOMICS
    12. Paoloni-Giacobino, A; Rossier, C; Papasavvas, MP; Antonarakis, SE
      Frequency of replication/transcription errors in (A)/(T) runs of human genes

      HUMAN GENETICS
    13. Neerman-Arbez, M; de Moerloose, P; Honsberger, A; Parlier, G; Arnuti, B; Biron, C; Borg, JY; Eber, S; Meili, E; Peter-Salonen, K; Ripoll, L; Vervel, C; d'Oiron, R; Staeger, P; Antonarakis, SE; Morris, MA
      Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes

      HUMAN GENETICS
    14. Wattenhofer, M; Shibuya, K; Kudoh, J; Lyle, R; Michaud, J; Rossier, C; Kawasaki, K; Asakawa, S; Minoshima, S; Berry, A; Bonne-Tamir, B; Shimizu, N; Antonarakis, SE; Scott, HS
      Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains

      HUMAN GENETICS
    15. Marneros, AG; Mehenni, H; Reichenberger, E; Antonarakis, SE; Krieg, T; Olsen, BR
      Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome

      CYTOGENETICS AND CELL GENETICS
    16. Aapola, U; Lyle, R; Krohn, K; Antonarakis, SE; Peterson, P
      Isolation and initial characterization of the mouse Dnmt3/gene

      CYTOGENETICS AND CELL GENETICS
    17. Antonarakis, SE; Lyle, R; Chrast, R; Scott, HS
      Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

      BRAIN RESEARCH REVIEWS
    18. Ben-Yosef, T; Wattenhofer, M; Riazuddin, S; Ahmed, ZM; Scot, HS; Kudoh, J; Shibuya, K; Antonarakis, SE; Bonne-Tamir, B; Radhakrishna, U; Naz, S; Ahmed, Z; Riazuddin, S; Pandya, A; Nance, WE; Wilcox, ER; Friedman, TB; Morell, RJ
      Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

      JOURNAL OF MEDICAL GENETICS
    19. Attanasio, C; de Moerloose, P; Antonarakis, SE; Morris, MA; Neerman-Arbez, M
      Activation of multiple cryptic donor splice sites by the common congenitalafibrinogenemia mutation, FGA IVS4+1 G -> T

      BLOOD
    20. Eliez, S; Antonarakis, SE; Morris, MA; Dahoun, SP; Reiss, AL
      Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome - A preliminary study

      ARCHIVES OF GENERAL PSYCHIATRY
    21. Pulver, AE; Mulle, J; Nestadt, G; Swartz, KL; Blouin, JL; Dombroski, B; Liang, KY; Housman, DE; Kazazian, HH; Antonarakis, SE; Lasseter, VK; Wolyniec, PS; Thornquist, MH; McGrath, JA
      Genetic heterogeneity in schizophrenia: stratification of genome scan datausing co-segregating related phenotypes

      MOLECULAR PSYCHIATRY
    22. Lynn, A; Kashuk, C; Petersen, MB; Bailey, JA; Cox, DR; Antonarakis, SE; Chakravarti, A
      Patterns of meiotic recombination on the long arm of human chromosome 21

      GENOME RESEARCH
    23. Chrast, R; Scott, HS; Papasavvas, MP; Rossier, C; Antonarakis, ES; Barras, C; Davisson, MT; Schmidt, C; Estivill, X; Dierssen, M; Pritchard, M; Antonarakis, SE
      The mouse brain transcriptome by SAGE: Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

      GENOME RESEARCH
    24. Antonarakis, SE; McKusick, VA
      OMIM passes the 1,000-disease-gene mark

      NATURE GENETICS
    25. den Dunnen, JT; Antonarakis, SE
      Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

      HUMAN MUTATION
    26. Eliez, S; Palacio-Espasa, F; Spira, A; Lacroix, M; Pont, C; Luthi, F; Robert-Tissot, C; Feinstein, C; Schorderet, DF; Antonarakis, SE; Cramer, B
      Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychoiogical and language phenotypes

      EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
    27. Kibar, Z; Dube, MP; Powell, J; McCuaig, C; Hayflick, SJ; Zonana, J; Hovnanian, A; Radhakrishna, U; Antonarakis, SE; Benohanian, A; Sheeran, AD; Stephan, ML; Gosselin, R; Kelsell, DP; Christianson, AL; Fraser, FC; Kaloustian, VMD; Rouleau, GA
      Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

      EUROPEAN JOURNAL OF HUMAN GENETICS
    28. Blouin, JL; Meeks, M; Radhakrishna, U; Sainsbury, A; Gehring, C; Sail, GD; Bartoloni, L; Dombi, V; O'Rawe, A; Walne, A; Chung, E; Afzelius, BA; Armengot, M; Jorissen, M; Schidlow, DV; van Maldergem, L; Walt, H; Gardiner, RM; Probst, D; Guerne, PA; Delozier-Blanchet, CD; Antonarakis, SE
      Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

      EUROPEAN JOURNAL OF HUMAN GENETICS
    29. Chrast, R; Scott, HS; Madani, R; Huber, L; Wolfer, DP; Prinz, M; Aguzzi, A; Lipp, HP; Antonarakis, SE
      Mice trisomic for a bacterial artificial chromosome with the single-minded2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

      HUMAN MOLECULAR GENETICS
    30. Bartoloni, T; Wattenhofer, M; Kudoh, J; Berry, A; Shibuya, K; Kawasaki, K; Wang, J; Asakawa, S; Talior, I; Bonne-Tamir, B; Rossier, C; Michaud, J; McCabe, ERB; Minoshima, S; Shimizu, N; Scott, HS; Antonarakis, SE
      Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency

      GENOMICS
    31. 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
    32. Michaud, J; Kudoh, J; Berry, A; Bonne-Tamir, B; Lalioti, MD; Rossier, C; Shibuya, K; Kawasaki, K; Asakawa, S; Minoshima, S; Shimizu, N; Antonarakis, SE; Scott, HS
      Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein

      GENOMICS
    33. Aapola, U; Shibuya, K; Scott, HS; Ollila, J; Vihinen, M; Heino, M; Shintani, A; Kawasaki, K; Minoshima, S; Krohn, K; Antonarakis, SE; Shimizu, N; Kudoh, J; Peterson, P
      Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family

      GENOMICS
    34. Guipponi, H; Yaspo, ML; Riesselman, L; Chen, HM; De Sario, A; Roizes, S; Antonarakis, SE
      Genomic structure of a copy of the human TPTE gene which encompasses 87 khon the short arm of chromosome 21

      HUMAN GENETICS
    35. Antonarakis, SE; Krawczak, M; Cooper, DN
      Disease-causing mutations in the human genome

      EUROPEAN JOURNAL OF PEDIATRICS
    36. Maiti, AK; Bartoloni, L; Mitchison, HM; Meeks, M; Chung, E; Spiden, S; Gehrig, C; Rossier, C; DeLozier-Blanchet, CD; Blouin, JL; Gardiner, RM; Antonarakis, SE
      No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)

      CYTOGENETICS AND CELL GENETICS
    37. Scott, HS; Antonarakis, SE; Mittaz, L; Lalioti, MD; Younus, F; Mohyuddin, A; Mehdi, SQ; Gal, A
      Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3

      GENETICS IN OTORHINOLARYNGOLOGY
    38. Hattori, M; Fujiyama, A; Taylor, TD; Watanabe, H; Yada, T; Park, HS; Toyoda, A; Ishii, K; Totoki, Y; Choi, DK; Groner, Y; Soeda, E; Ohki, M; Takagi, T; Sakaki, Y; Taudien, S; Blechschmidt, K; Polley, A; Menzel, U; Delabar, J; Kumpf, K; Lehmann, R; Patterson, D; Reichwald, K; Rump, A; Schillhabel, M; Schudy, A; Zimmermann, W; Rosenthal, A; Kudoh, J; Schibuya, K; Kawasaki, K; Asakawa, S; Shintani, A; Sasaki, T; Nagamine, K; Mitsuyama, S; Antonarakis, SE; Minoshima, S; Shimizu, N; Nordsiek, G; Hornischer, K; Brant, P; Scharfe, M; Schon, O; Desario, A; Reichelt, J; Kauer, G; Blocker, H; Ramser, J; Beck, A; Klages, S; Hennig, S; Riesselmann, L; Dagand, E; Haaf, T; Wehrmeyer, S; Borzym, K; Gardiner, K; Nizetic, D; Francis, F; Lehrach, H; Reinhardt, R; Yaspo, ML
      The DNA sequence of human chromosome 21 (vol 405, pg 311, 2000)

      NATURE
    39. Hattori, M; Fujiyama, A; Taylor, TD; Watanabe, H; Yada, T; Park, HS; Toyoda, A; Ishii, K; Totoki, Y; Choi, DK; Soeda, E; Ohki, M; Takagi, T; Sakaki, Y; Taudien, S; Blechschmidt, K; Polley, A; Menzel, U; Delabar, J; Kumpf, K; Lehmann, R; Patterson, D; Reichwald, K; Rump, A; Schillhabel, M; Schudy, A; Zimmermann, W; Rosenthal, A; Kudoh, J; Shibuya, K; Kawasaki, K; Asakawa, S; Shintani, A; Sasaki, T; Nagamine, K; Mitsuyama, S; Antonarakis, SE; Minoshima, S; Shimizu, N; Nordsiek, G; Hornischer, K; Brandt, P; Scharfe, M; Schon, O; Desario, A; Reichelt, J; Kauer, G; Blocker, H; Ramser, J; Beck, A; Klages, S; Hennig, S; Riesselmann, L; Dagand, E; Haaf, T; Wehrmeyer, S; Borzym, K; Gardiner, K; Nizetic, D; Francis, F; Lehrach, H; Reinhardt, R; Yaspo, ML
      The DNA sequence of human chromosome 21

      NATURE
    40. Pitkanen, J; Doucas, V; Sternsdorf, T; Nakajima, T; Aratani, S; Jensen, K; Will, H; Vahamurto, P; Ollila, J; Vihinen, M; Scott, HS; Antonarakis, SE; Kudoh, J; Shimizu, N; Krohn, K; Peterson, P
      The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

      JOURNAL OF BIOLOGICAL CHEMISTRY
    41. Heino, M; Peterson, P; Sillanpaa, N; Guerin, S; Wu, L; Anderson, G; Scott, HS; Antonarakis, SE; Kudoh, J; Shimizu, N; Jenkinson, EJ; Naquet, P; Krohn, KJE
      RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse

      EUROPEAN JOURNAL OF IMMUNOLOGY
    42. Neerman-Arbez, M; de Moerloose, P; Bridel, C; Honsberger, A; Schonborner, A; Rossier, C; Peerlinck, K; Claeyssens, S; Di Michele, D; d'Oiron, R; Dreyfus, M; Laubriat-Bianchin, M; Dieval, J; Antonarakis, SE; Morris, MA
      Mutations in the fibrinogen A alpha gene account for the majority of casesof congenital afibrinogenemia

      BLOOD
    43. Levinson, DF; Holmans, P; Straub, RE; Owen, MJ; Wildenauer, DB; Gejman, PV; Pulver, AE; Laurent, C; Kendler, KS; Walsh, D; Norton, N; Williams, NM; Schwab, SG; Lerer, B; Mowry, BJ; Sanders, AR; Antonarakis, SE; Blouin, JL; DeLeuze, JF; Mallet, J
      Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: Schizophrenia linkage collaborative group III

      AMERICAN JOURNAL OF HUMAN GENETICS
    44. Wang, SY; Cruts, M; Del-Favero, J; Zhang, Y; Tissir, F; Potier, MC; Patterson, D; Nizetic, D; Bosch, A; Chen, HM; Bennett, L; Estivill, X; Kessling, A; Antonarakis, SE; van Broeckhoven, C
      A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

      GENOME RESEARCH
    45. Heino, M; Scott, HS; Chen, QY; Peterson, P; Maenpaa, U; Papasavvas, MP; Mittaz, L; Barras, C; Rossier, C; Chrousos, GP; Stratakis, CA; Nagamine, K; Kudoh, J; Shimizu, N; Maclaren, N; Antonarakis, SE; Krohn, K
      Mutation analyses of North American APS-1 patients

      HUMAN MUTATION
    46. Neerman-Arbez, M; Antonarakis, SE; Honsberger, A; Morris, MA
      The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster

      EUROPEAN JOURNAL OF HUMAN GENETICS
    47. Lalioti, MD; Scott, HS; Antonarakis, SE
      Altered spacing of promoter elements due to the dodecamer repeat expansioncontributes to reduced expression of the cystatin B gene in EPM1

      HUMAN MOLECULAR GENETICS
    48. Chrast, R; Scott, HS; Antonarakis, SE
      Linearization and purification of BAC DNA for the development of transgenic mice

      TRANSGENIC RESEARCH
    49. Chen, HM; Rossier, C; Morris, MA; Scott, HS; Gos, A; Bairoch, A; Antonarakis, SE
      A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

      HUMAN GENETICS
    50. Roessler, E; Mittaz, L; Du, YZ; Scott, HS; Chang, J; Rossier, C; Guipponi, M; Matsuda, SPT; Muenke, M; Antonarakis, SE
      Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

      HUMAN GENETICS
    51. Groner, Y; Antonarakis, SE; Levanon, D
      EMBO Workshop Molecular Biology of Chromosome 21 and Down Syndrome - Summary report

      CYTOGENETICS AND CELL GENETICS
    52. Bartoloni, L; Blouin, JLC; Sainsbury, AJ; Gos, A; Morris, MA; Affara, NA; DeLozier-Blanchet, CD; Antonarakis, SE
      Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

      CYTOGENETICS AND CELL GENETICS
    53. Antonarakis, SE; Blouin, JL; Lasseter, VK; Gehrig, C; Radhakrishna, U; Nestadt, G; Housman, DE; Kazazian, HH; Kalman, K; Gutman, G; Fantino, E; Chandy, KG; Gargus, JJ; Arm, E
      Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

      AMERICAN JOURNAL OF MEDICAL GENETICS
    54. Curtis, L; Blouin, JL; Radhakrishna, U; Gehrig, C; Lasseter, VK; Wolyniec, P; Nestadt, G; Dombroski, B; Kazazian, HH; Pulver, AE; Housman, D; Bertrand, D; Antonarakis, SE
      No evidence for linkage between schizophrenia and markers at chromosome 15q13-14

      AMERICAN JOURNAL OF MEDICAL GENETICS
    55. Neerman-Arbez, M; Honsberger, A; Antonarakis, SE; Morris, MA
      Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrogenemia (vol 103, pg 215, 1999)

      JOURNAL OF CLINICAL INVESTIGATION
    56. Neerman-Arbez, M; Honsberger, A; Antonarakis, SE; Morris, MA
      Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia

      JOURNAL OF CLINICAL INVESTIGATION
    57. Neerman-Arbez, M; Johnson, KM; Morris, MA; McVey, JH; Peyvandi, F; Nichols, WC; Ginsburg, D; Rossier, C; Antonarakis, SE; Tuddenham, EGD
      Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V factor VIII deficiency

      BLOOD
    58. Heino, M; Peterson, P; Kudoh, J; Nagamine, K; Lagerstedt, A; Ovod, V; Ranki, A; Rantala, I; Nieminen, M; Tuukkanen, J; Scott, HS; Antonarakis, SE; Shimizu, N; Krohn, K
      Autoimmune regulator is expressed in the cells regulating immune tolerancein thymus medulla

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    59. Mittaz, L; Rossier, C; Heino, M; Peterson, P; Krohn, KJE; Gos, A; Morris, MA; Kudoh, J; Shimizu, N; Antonarakis, SE; Scott, HS
      Isolation and characterization of the mouse Aire gene

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    60. Radhakrishna, U; Bornholdt, D; Scott, HS; Patel, UC; Rossier, C; Engel, H; Bottani, A; Chandal, D; Blouin, JL; Solanki, JV; Grzeschik, KH; Antonarakis, SE
      The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

      AMERICAN JOURNAL OF HUMAN GENETICS
    61. ANTONARAKIS SE
      MOLECULAR-GENETICS OF COAGULATION-FACTOR-VIII GENE AND HEMOPHILIA-A

      Haemophilia
    62. BLOUIN JL; DOMBROSKI BA; NATH SK; LASSETER VK; WOLYNIEC PS; NESTADT G; THORNQUIST M; ULLRICH G; MCGRATH J; KASCH L; LAMACZ M; THOMAS MG; GEHRIG C; RADHAKRISHNA U; SNYDER SE; BALK KG; NEUFELD K; SWARTZ KL; DEMARCHI N; PAPADIMITRIOU GN; DIKEOS DG; STEFANIS CN; CHAKRAVARTI A; CHILDS B; HOUSMAN DE; KAZAZIAN HH; ANTONARAKIS SE; PULVER AE
      SCHIZOPHRENIA SUSCEPTIBILITY LOCI ON CHROMOSOMES 13Q32 AND 8P21

      Nature genetics
    63. ANTONARAKIS SE; VANAELST L
      MIND THE GAP, RHO, RAB AND GDI

      Nature genetics
    64. BUELL GN; TALABOT F; GOS A; LORENZ J; LAI E; MORRIS MA; ANTONARAKIS SE
      GENE STRUCTURE AND CHROMOSOMAL LOCALIZATION OF THE HUMAN P2X(7) RECEPTOR

      Receptors & channels
    65. THEOPHILUS BDM; ENAYAT MS; HIGUCHI M; KAZAZIAN HH; ANTONARAKIS SE; HILL FGH
      INDEPENDENT OCCURRENCE OF THE NOVEL ARG(2163) TO HIS MUTATION IN THE FACTOR-VIII GENE IN 3 UNRELATED FAMILIES WITH HEMOPHILIA-A WITH DIFFERENT PHENOTYPES

      Human mutation
    66. ANTONARAKIS SE
      RECOMMENDATIONS FOR A NOMENCLATURE SYSTEM FOR HUMAN GENE-MUTATIONS

      Human mutation
    67. ANTONARAKIS SE
      RECOMMENDATIONS FOR A NOMENCLATURE SYSTEM FOR HUMAN GENE-MUTATIONS

      Human mutation
    68. IVES JH; DAGNABRICARELLI F; BASSO G; ANTONARAKIS SE; JEE R; COTTER F; NIZETIC D
      INCREASED LEVELS OF A CHROMOSOME 21-ENCODED TUMOR INVASION AND METASTASIS FACTOR (TIAM1) MESSENGER-RNA IN BONE-MARROW OF DOWN-SYNDROME CHILDREN DURING THE ACUTE-PHASE OF AML(M7)

      Genes, chromosomes & cancer
    69. NEERMANARBEZ M; MORRIS MA; NICHOLS WC; GINSBURG D; TUDDENHAM EGD; ANTONARAKIS SE
      MUTATION ANALYSIS OF THE ERGIC53 GENE IN 39 FAMILIES WITH COMBINED DEFICIENCY OF COAGULATION-FACTOR-V AND COAGULATION-FACTOR-VIII (F5F8D)

      European journal of human genetics
    70. ANTONARAKIS SE; NAGAMINE K; PETERSON P; ROSATELLI MC; LALIOTI MD; MULLIS PE; BETTERLE C; COHEN A; SERI M; LERONE M; ROMEO G; CAO A; KUDOH J; KROHN KJE; SHIMIZU N; SCOTT HS
      IDENTIFICATION OF A POTENTIAL TRANSCRIPTION REGULATOR MUTATED IN AUTOIMMUNE POLYGLANDULAR DISEASE-1

      European journal of human genetics
    71. BLOUIN JL; WOLYNIEC P; NATH S; LASSETER VK; GEHRIG C; RADHAKRISHNA U; KAZAZIAN HH; DOMBROSKI B; HOUSMAN D; WOLYNIEC P; NESTADT G; CHAKRAVARTI A; PULVER AE; ANTONARAKIS SE
      A POTENTIAL SCHIZOPHRENIA SUSCEPTIBILITY LOCUS ON CHROMOSOME 13Q

      European journal of human genetics
    72. SCOTT HS; PAPASAVVAS MP; ROSSIER C; MICHAUD J; CHRAST R; VELCULESCU VE; TOTH Z; DAHOUN S; BARRAS C; BUELL G; FEGER G; ANTONARAKIS SE
      A GLOBAL COMPARISON OF GENE-EXPRESSION PATTERNS BETWEEN DOWN-SYNDROMEAND NORMAL-CELLS BY SERIAL ANALYSIS OF GENE-EXPRESSION (SAGE)

      European journal of human genetics
    73. UPPALA R; BLOUIN JL; SOLANKI JV; ANTONARAKIS SE
      THE GENE FOR ONE FORM OF AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY TYPE-B (PAP-B) MAPS TO CHROMOSOME 7P13

      European journal of human genetics
    74. MEHENNI H; CHERGUI R; BLOUIN JL; ANTONARAKIS SE; MORRIS MA
      A FAMILY WITH AUTOSOMAL-DOMINANT POLYPOSIS-COLI AND COWDEN-DISEASE UNLINKED TO THE APC, PTEN, AND HMPS LOCI

      European journal of human genetics
    75. FRENNY S; RADHAKRISHNA U; BLOUIN JL; MORRIS MA; GOS A; SHETH JJ; HYDRABADI V; MULTANI AS; ANTONARAKIS SE
      MOLECULAR, CYTOGENETIC AND FISH ANALYSIS OF A TANDEM TRANSLOCATION OFCHROMOSOME-21 T(21-21) (Q22.3-Q22.3) IN A MILDLY-AFFECTED PATIENT WITH DOWN-SYNDROME

      European journal of human genetics
    76. LALIOTI MD; SCOTT HS; GENTON P; GRID D; OUAZZANI R; MRABET A; IBRAHIM S; GOUIDER R; DRAVET C; CHKILI T; BOTTANI A; BURESI C; MALAFOSSE A; ANTONARAKIS SE
      THE EXPANDED DODECAMER REPEAT IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) IS UNSTABLE, SHOWS NO CORRELATION WITH AGE-OF-ONSET, AND RESULTS IN REDUCED EXPRESSION OF REPORTER GENES IN-VITRO

      European journal of human genetics
    77. GUIPPONI M; SCOTT HS; CHEN HM; SCHEBESTA A; ROSSIER C; ANTONARAKIS SE
      CLONING OF 2 HUMAN-CHROMOSOME-21 GENES ENCODING A POTENTIAL PHOSPHODIESTERASE AND AN INTERSECTIN HOMOLOG WITH ALTERNATIVE SPLICING IN A STOP CODON

      European journal of human genetics
    78. CHRAST R; SCOTT HS; ANTONARAKIS SE
      OPTIMIZED PROTOCOL FOR LINEARIZATION AND PURIFICATION OF BAC CLONES FOR TG MICE GENERATION

      European journal of human genetics
    79. BLOUIN JL; ANTONARAKIS SE; SAIL GD; GUIPPONI M; ROSSIER C; PAPPASAVAS MP; ANTONARAKIS SE
      ISOLATION OF THE HUMAN BACH1 TRANSCRIPTION REGULATOR GENE, WHICH MAPSTO CHROMOSOME 21Q22.1

      European journal of human genetics
    80. MITTAZ L; ROESSLER E; SCOTT HS; ROSSIER C; GUIPPONI M; ANTONARAKIS SE; MUENKE M
      STRUCTURE OF THE HUMAN LANOSTEROL SYNTHASE GENE AND ITS ANALYSIS AS ACANDIDATE FOR HOLOPROSENCEPHALY

      European journal of human genetics
    81. Delabar, J; Antonarakis, SE; Brahe, C; Estivill, X; Pritchard, M; Fisher, E; Kessling, A; Yaspo, ML; Nizetic, D; Bricarelli, D; Oliva, R; Petersen, MB; Potier, MC; Roizes, G; Van Broeckhoven, C; Sverdlov, E; Yurov, Y
      Construction of a high resolution map of chromosome 21 integrating genetic, physical, overlap and transcriptional data

      HUMAN GENOME ANALYSIS
    82. SCOTT HS; HEINO M; PETERSON P; MITTAZ L; LALIOTI MD; BETTERLE C; COHEN A; SERI M; LERONE M; ROMEO G; COLLIN P; SALO M; METCALFE R; WEETMAN A; PAPASAVVAS MP; ROSSIER C; NAGAMINE K; KUDOH J; SHIMIZU N; KROHN KJE; ANTONARAKIS SE
      COMMON MUTATIONS IN AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS ECTODERMAL DYSTROPHY PATIENTS OF DIFFERENT ORIGINS

      Molecular endocrinology
    83. GUIPPONI M; SCOTT HS; CHEN H; SCHEBESTA A; ROSSIER C; ANTONARAKIS SE
      2 ISOFORMS OF A HUMAN INTERSECTIN (ITSN) PROTEIN ARE PRODUCED BY BRAIN-SPECIFIC ALTERNATIVE SPLICING IN A STOP CODON

      Genomics (San Diego, Calif.)
    84. ANTONARAKIS SE
      10 YEARS OF GENOMICS, CHROMOSOME-21, AND DOWN-SYNDROME

      Genomics (San Diego, Calif.)
    85. LAPENTA V; SOSSI V; GOSSET P; VAYSSETTES C; VITALI T; RABATEL N; TASSONE F; BLOUIN JL; SCOTT HS; ANTONARAKIS SE; CREAU N; BRAHE C
      CONSTRUCTION OF A 2.5-MB INTEGRATED PHYSICAL AND GENE MAP OF DISTAL 21Q22.3

      Genomics
    86. SCOTT HS; ANTONARAKIS SE; LALIOTI MD; ROSSIER C; SILVER PA; HENRY MF
      IDENTIFICATION AND CHARACTERIZATION OF 2 PUTATIVE HUMAN ARGININE METHYLTRANSFERASES (HRMT1L1 AND HRMT1L2)

      Genomics
    87. DAHMANE N; GHEZALA GA; GOSSET P; CHAMOUN Z; DUFRESNEZACHARIA MC; LOPES C; RABATEL N; GASSANOVAMAUGENRE S; CHETTOUH Z; ABRAMOWSKI V; FAYET E; YASPO ML; KORN B; BLOUIN JL; LEHRACH H; POUTSKA A; ANTONARAKIS SE; SINET PM; CREAU N; DELABAR JM
      TRANSCRIPTIONAL MAP OF THE 2.5-MB CBR-ERG REGION OF CHROMOSOME-21 INVOLVED IN DOWN-SYNDROME

      Genomics
    88. SCOTT HS; KYRIAKOU DS; PETERSON P; HEINO M; TAHTINEN M; KROHN K; CHEN HM; ROSSIER C; LALIOTI MD; ANTONARAKIS SE
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      Genomics
    89. VARGAS FR; ROESSLER E; GAUDENZ K; BELLONI E; WHITEHEAD AS; KIRKE PN; MILLS JL; HOOPER G; STEVENSON RE; CORDEIRO I; CORREIA P; FELIX T; GEREIGE R; CUNNINGHAM ML; CANUN S; ANTONARAKIS SE; STRACHAN T; TSUI LC; SCHERER SW; MUENKE M
      ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY

      Human genetics
    90. BLOUIN JL; SAIL GD; GUIPPONI M; ROSSIER C; PAPPASAVAS MP; ANTONARAKIS SE
      ISOLATION OF THE HUMAN BACH1 TRANSCRIPTION REGULATOR GENE, WHICH MAPSTO CHROMOSOME 21Q22.1

      Human genetics
    91. Guipponi, M; Scott, HS; Kudoh, J; Kawasaki, K; Shibuya, K; Shintani, A; Asakawa, S; Chen, HM; Lalioti, MD; Rossier, C; Minoshima, S; Shimizu, N; Antonarakis, SE
      Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence

      HUMAN GENETICS
    92. Rosatelli, MC; Meloni, A; Meloni, A; Devoto, M; Cao, A; Scott, HS; Peterson, P; Heino, M; Krohn, KJE; Nagamine, K; Kudoh, J; Shimizu, N; Antonarakis, SE
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      HUMAN GENETICS
    93. Guipponi, M; Scott, HS; Hattori, M; Ishii, K; Sakaki, Y; Antonarakis, SE
      Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1 -> q22.2

      CYTOGENETICS AND CELL GENETICS
    94. PETERSON P; NAGAMINE K; SCOTT H; HEINO M; KUDOH J; SHIMIZU N; ANTONARAKIS SE; KROHN KJE
      APECED - A MONOGENIC AUTOIMMUNE-DISEASE PROVIDING NEW CLUES TO SELF-TOLERANCE

      Immunology today
    95. STRATAKIS CA; KIRSCHNER LS; TAYMANS SE; TOMLINSON IPM; MARSH DJ; TORPY DJ; GIATZAKIS C; ECCLES DM; THEAKER J; HOULSTON RS; BLOUIN JL; ANTONARAKIS SE; BASSON CT; ENG C; CARNEY JA
      CARNEY-COMPLEX, PEUTZ-JEGHERS-SYNDROME, COWDEN-DISEASE, AND BANNAYAN-ZONANA-SYNDROME SHARE CUTANEOUS AND ENDOCRINE MANIFESTATIONS, BUT NOT GENETIC-LOCI

      The Journal of clinical endocrinology and metabolism
    96. IVES JH; DAGNABRICARELLI F; BASSO G; ANTONARAKIS SE; COTTER F; NIZETIC D
      INCREASED LEVELS OF A CHROMOSOME-21 ENCODED TUMOR INVASION AND METASTASIS FACTOR (TIAM1) MESSENGER-RNA IN BONE-MARROW OF DOWN-SYNDROME CHILDREN DURING THE ACUTE-PHASE OF AML(M7)

      British Journal of Haematology
    97. KARAYIORGOU M; GOGOS JA; GALKE BL; WOLYNIEC PS; NESTADT G; ANTONARAKIS SE; KAZAZIAN HH; HOUSMAN DE; PULVER AE
      IDENTIFICATION OF SEQUENCE VARIANTS AND ANALYSIS OF THE ROLE OF THE CATECHOL-O-METHYL-TRANSFERASE GENE IN SCHIZOPHRENIA SUSCEPTIBILITY

      Biological psychiatry
    98. Mehenni, H; Gehrig, C; Nezu, J; Oku, A; Shimane, M; Rossier, C; Guex, N; Blouin, JL; Scott, HS; Antonarakis, SE
      Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

      AMERICAN JOURNAL OF HUMAN GENETICS
    99. LALIOTI MD; SCOTT HS; GENTON P; GRID D; OUAZZANI R; MRABET A; IBRAHIM S; GOUIDER R; DRAVET C; CHKILI T; BOTTANI A; BURESI C; MALAFOSSE A; ANTONARAKIS SE
      A PCR AMPLIFICATION METHOD REVEALS INSTABILITY OF THE DODECAMER REPEAT IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) AND NO CORRELATION BETWEEN THE SIZE OF THE REPEAT AND AGE AT ONSET

      American journal of human genetics
    100. NAGAMINE K; PETERSON P; SCOTT HS; KUDOH J; MINOSHIMA S; HEINO M; KROHN KJE; LALIOTI MD; MULLIS PE; ANTONARAKIS SE; KAWASAKI K; ASAKAWA S; ITO F; SHIMIZU N
      POSITIONAL CLONING OF THE APECED GENE

      Nature genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/10/20 alle ore 15:54:58