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La ricerca find articoli where soggetti phrase all words 'SYNDROME CRITICAL REGION' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 77 riferimenti
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    1. Lindsay, EA
      Chromosomal microdeletions: Dissecting del22q11 syndrome

      NATURE REVIEWS GENETICS
    2. Marcelis, C; Schrander-Stumpel, C; Engelen, J; Schoonbrood-Lenssen, A; Willemse, A; Beemer, F; Sigaudy, S; Missirian, C; Philip, N; Fryns, JP
      Wolf-Hirschhorn (4p) syndrome in adults

      GENETIC COUNSELING
    3. Wirth, J; Back, E; Huttenhofer, A; Nothwang, HG; Lich, C; Gross, S; Menzel, C; Schinzel, A; Kioschis, P; Tommerup, N; Ropers, HH; Horsthemke, B; Buiting, K
      A translocation breakpoint cluster disrupts the newly defined 3 ' end of the SNURF-SNRPN transcription unit on chromosome 15

      HUMAN MOLECULAR GENETICS
    4. Naf, D; Wilson, LA; Bergstrom, RA; Smith, RS; Goodwin, NC; Verkerk, A; van Ommen, GJ; Ackerman, SL; Frankel, WN; Schimenti, JC
      Mouse models for the Wolf-Hirschhorn deletion syndrome

      HUMAN MOLECULAR GENETICS
    5. Chung, MY; Lu, JH; Weng, YY; Hwang, BT
      Absence of mutations in human ubiquitin fusion-degradation protein gene intetralogy of Fallot

      JOURNAL OF MOLECULAR MEDICINE-JMM
    6. Casas, C; Martinez, S; Pritchard, MA; Fuentes, JJ; Nadal, M; Guimera, J; Arbones, M; Florez, J; Soriano, E; Estivill, X; Alcantara, S
      Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressedin the primitive ventricle of the heart and during neurogenesis

      MECHANISMS OF DEVELOPMENT
    7. Botta, A; Tandoi, C; Fini, G; Calabrese, G; Dallapiccola, B; Novelli, G
      Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)

      GENE
    8. Cairns, NJ
      Molecular neuropathology of transgenic mouse models of Down syndrome

      JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT
    9. Woods, YL; Rena, G; Morrice, N; Barthel, A; Becker, W; Guo, SD; Unterman, TG; Cohen, P
      The kinase DYRK1A phosphorylates the transcription factor FKHR at Ser(329)in vitro, a novel in vivo phosphorylation site

      BIOCHEMICAL JOURNAL
    10. Woods, YL; Cohen, P; Becker, W; Jakes, R; Goedert, M; Wang, XM; Proud, CG
      The kinase DYRK phosphorylates protein-synthesis initiation factor eIF2B epsilon at Ser(539) and the microtubule-associated protein tau at Thr(212): potential role for DYRK as a glycogen synthase kinase 3-priming kinase

      BIOCHEMICAL JOURNAL
    11. Capone, GT
      Down syndrome: Advances in molecular biology and the neurosciences

      JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
    12. Lorain, S; Lecluse, Y; Scamps, C; Mattei, MG; Lipinski, M
      Identification of human and mouse HIRA-interacting protein-5 (HIRIP5), twomammalian representatives in a family of phylogenetically conserved proteins with a role in the biogenesis of Fe/S proteins

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    13. Graef, IA; Gastier, JM; Francke, U; Crabtree, GR
      Evolutionary relationships among Rel domains indicate functional diversification by recombination

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    14. Shannon, NL; Maltby, EL; Rigby, AS; Quarrell, WJ
      An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality

      JOURNAL OF MEDICAL GENETICS
    15. Ungaro, P; Christian, SL; Fantes, JA; Mutirangura, A; Black, S; Reynolds, J; Malcolm, S; Dobyns, WB; Ledbetter, DH
      Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

      JOURNAL OF MEDICAL GENETICS
    16. Yang, EJ; Ahn, YS; Chung, KC
      Protein kinase Dyrk1 activates cAMP response element-binding protein during neuronal differentiation in hippocampal progenitor cells

      JOURNAL OF BIOLOGICAL CHEMISTRY
    17. Ermak, G; Morgan, TE; Davies, KJA
      Chronic overexpression of the calcineurin inhibitory gene DSCR1 (Adapt78) is associated with Alzheimer's disease

      JOURNAL OF BIOLOGICAL CHEMISTRY
    18. Hanel, ML; Wevrick, R
      The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome

      CLINICAL GENETICS
    19. Van Amelsvoort, T; Daly, E; Robertson, D; Suckling, J; Ng, V; Critchley, H; Owen, MJ; Henry, J; Murphy, KC; Murphy, DGM
      Structural brain abnormalities associated with deletion at chromosome 22q11 - Quantitative neuroimaging study of adults with velo-cardio-facial syndrome

      BRITISH JOURNAL OF PSYCHIATRY
    20. Geiger, JN; Knudsen, GT; Panek, L; Pandit, AK; Yoder, MD; Lord, KA; Creasy, CL; Burns, BM; Gaines, P; Dillon, SB; Wojchowski, DM
      mDYRK3 kinase is expressed selectively in late erythroid progenitor cells and attenuates colony-forming unit-erythroid development

      BLOOD
    21. Bielinska, B; Blaydes, SM; Buiting, K; Yang, T; Krajewska-Walasek, M; Horsthemke, B; Brannan, CI
      De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

      NATURE GENETICS
    22. Shang, EY; Wang, XY; Huang, JH; Yoshida, W; Kuroiwa, A; Wolgemuth, DJ
      Murine MyaK, a member of a family of yeast YAK1-related genes, is highly expressed in hormonally modulated epithelia in the reproductive system and in the embryonic central nervous system

      MOLECULAR REPRODUCTION AND DEVELOPMENT
    23. Wieczorek, D; Krause, M; Majewski, F; Albrecht, B; Horn, D; Riess, O; Gillessen-Kaesbach, G
      Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

      EUROPEAN JOURNAL OF HUMAN GENETICS
    24. Shaikh, TH; Kurahashi, H; Saitta, SC; O'Hare, AM; Hu, P; Roe, BA; Driscoll, DA; McDonald-McGinn, DM; Zackai, EH; Budarf, ML; Emanuel, BS
      Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome:genomic organization and deletion endpoint analysis

      HUMAN MOLECULAR GENETICS
    25. Scambler, PJ
      The 22q11 deletion syndromes

      HUMAN MOLECULAR GENETICS
    26. Lee, S; Kozlov, S; Hernandez, L; Chamberlain, SJ; Brannan, CI; Stewart, CL; Wevrick, R
      Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype

      HUMAN MOLECULAR GENETICS
    27. Kentrup, H; Joost, HG; Heimann, G; Becker, W
      Minibrain/DYRK1A-gene: Candidate gene for mental retardation in Down syndrome?

      KLINISCHE PADIATRIE
    28. Glenn, CC; Deng, G; Michaelis, RC; Tarleton, J; Phelan, MC; Surh, L; Yang, TP; Driscoll, DJ
      DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting

      PRENATAL DIAGNOSIS
    29. Kohlschmidt, N; Zielinski, J; Brude, E; Schafer, D; Olert, J; Hallermann, C; Coerdt, W; Arnemann, J
      Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS)

      PRENATAL DIAGNOSIS
    30. Zollino, M; Di Stefano, C; Zampino, G; Mastroiacovo, P; Wright, TJ; Sorge, G; Selicorni, A; Tenconi, R; Zappala, A; Battaglia, A; Di Rocco, M; Palka, G; Pallotta, R; Altherr, MR; Neri, G
      Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. Epstein, JA; Buck, CA
      Transcriptional regulation of cardiac development: Implications for congenital heart disease and DiGeorge syndrome

      PEDIATRIC RESEARCH
    32. Nemtsova, MV
      Genomic imprinting and human hereditary disorders

      MOLECULAR BIOLOGY
    33. Himpel, S; Tegge, W; Frank, R; Leder, S; Joost, HG; Becker, W
      Specificity determinants of substrate recognition by the protein kinase DYRK1A

      JOURNAL OF BIOLOGICAL CHEMISTRY
    34. Trost, M; Kochs, G; Haller, O
      Characterization of a novel serine/threonine kinase associated with nuclear bodies

      JOURNAL OF BIOLOGICAL CHEMISTRY
    35. Pfeifer, K
      Mechanisms of genomic imprinting

      AMERICAN JOURNAL OF HUMAN GENETICS
    36. Sankaranarayanan, K
      Ionizing radiation and genetic risks - X. The potential "disease phenotypes" of radiation-induced genetic damage in humans: perspectives from human molecular biology and radiation genetics

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    37. Pucharcos, C; Fuentes, JJ; Casas, C; de la Luna, S; Alcantara, S; Arbones, ML; Soriano, E; Estivill, X; Pritchard, M
      Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    38. Edelmann, L; Pandita, RK; Spiteri, E; Funke, B; Goldberg, R; Palanisamy, N; Chaganti, RSK; Magenis, E; Shprintzen, RJ; Morrow, BE
      A common molecular basis for rearrangement disorders on chromosome 22q11

      HUMAN MOLECULAR GENETICS
    39. Mann, MRW; Bautolomei, MS
      Towards a molecular understanding of Prader-Willi and Angelman syndromes

      HUMAN MOLECULAR GENETICS
    40. Okui, M; Ide, T; Morita, K; Funakoshi, E; Ito, F; Ogita, K; Yoneda, Y; Kudoh, J; Shimizu, N
      High-level expression of the Mnb/Dyrk1A gene in brain and heart during ratearly development

      GENOMICS
    41. Guimera, J; Casas, C; Estivill, X; Pritchard, M
      Human minibrain homologue (MNBH/DYRK1): Characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome

      GENOMICS
    42. Lipinski, M
      Syndromes associated with a 22q11 deletion: the end of the road?

      M S-MEDECINE SCIENCES
    43. Gosset, P; Ait-Ghezala, G; Sinet, PM; Creau, N
      Isolation and analysis of chromosome 21 genes potentially involved in DownSyndrome

      JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT
    44. Novelli, G; Amati, F; Dallapiccola, B
      UFD1L and CDC45L - a role in DiGeorge syndrome and related phenotypes?

      TRENDS IN GENETICS
    45. Kozma, C; Chong, SS; Meck, JM
      Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    46. Becker, W; Joost, HG
      Structural and functional characteristics of Dyrk, a novel subfamily of protein kinases with dual specificity

      PROGRESS IN NUCLEIC ACID RESEARCH AND JOLECULAR BIOLOGY, VOL 62
    47. Gutierrez-Angulo, M; Ramos, AL; Davalos, N; Sanchez-Corona, J; Rivera, H
      An extra idic(21)(q22.1) in a child with some features of Down's syndrome

      CLINICAL GENETICS
    48. Farrell, MJ; Stadt, H; Wallis, KT; Scambler, P; Hixon, RL; Wolfe, R; Leatherbury, L; Kirby, ML
      HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation

      CIRCULATION RESEARCH
    49. Miyata, Y; Nishida, E
      Distantly related cousins of MAP kinase: Biochemical properties and possible physiological functions

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    50. Leder, S; Weber, Y; Altafaj, X; Estivill, X; Joost, HG; Becker, W
      Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    51. Aita, VM; Liu, JJ; Knowles, JA; Terwilliger, JD; Baltazar, R; Grunn, A; Loth, JE; Kanyas, K; Lerer, B; Endicott, J; Wang, ZY; Penchaszadeh, G; Gilliam, TC; Baron, M
      A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus

      AMERICAN JOURNAL OF HUMAN GENETICS
    52. LINDSAY EA; BALDINI A
      CONGENITAL HEART-DEFECTS AND 22Q11 DELETIONS - WHICH GENES COUNT

      Molecular medicine today
    53. TOOMES C; DIXON MJ
      REFINEMENT OF A TRANSLOCATION BREAKPOINT ASSOCIATED WITH BLEPHAROPHIMOSIS-PTOSIS EPICANTHUS INVERSUS SYNDROME TO A 280-KB INTERVAL AT CHROMOSOME 3Q23

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

      Genomics (San Diego, Calif.)
    55. KIROV N; SHTILBANS A; RUSHLOW C
      ISOLATION AND CHARACTERIZATION OF A NEW GENE ENCODING A MEMBER OF THEHIRA FAMILY OF PROTEINS FROM DROSOPHILA-MELANOGASTER

      Gene
    56. LLEVADOT R; ESTIVILL X; SCAMBLER P; PRITCHARD M
      ISOLATION AND GENOMIC CHARACTERIZATION OF THE TUPLE1 HIRA GENE OF THEPUFFERFISH FUGU RUBRIPES/

      Gene
    57. 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
    58. LORAIN S; QUIVY JP; MONIERGAVELLE F; SCAMPS C; LECLUSE Y; ALMOUZNI G; LIPINSKI M
      CORE HISTONES AND HIRIP3, A NOVEL HISTONE-BINDING PROTEIN, DIRECTLY INTERACT WITH WD REPEAT PROTEIN HIRA

      Molecular and cellular biology
    59. SABRY MA; ZAKI M; HASSAN SJA; RAMADAN DG; RASOOL MAA; ALAWADI SA; ALSALEH Q
      KENNY-CAFFEY-SYNDROME IS PART OF THE CATCH-22 HAPLOINSUFFICIENCY CLUSTER

      Journal of Medical Genetics
    60. BECKER W; WEBER Y; WETZEL K; EIRMBTER K; TEJEDOR FJ; JOOST HG
      SEQUENCE CHARACTERISTICS, SUBCELLULAR-LOCALIZATION, AND SUBSTRATE-SPECIFICITY OF DYRK-RELATED KINASES, A NOVEL FAMILY OF DUAL-SPECIFICITY PROTEIN-KINASES

      The Journal of biological chemistry
    61. TSUKAHARA F; URAKAWA I; HATTORI M; HIRAI M; OHBA K; YOSHIOKA T; SAKAKI Y; MURAKI T
      MOLECULAR CHARACTERIZATION OF THE MOUSE MTPRD GENE, A HOMOLOG OF HUMAN TPRD - UNIQUE GENE-EXPRESSION SUGGESTING ITS CRITICAL ROLE IN THE PATHOPHYSIOLOGY OF DOWN-SYNDROME

      Journal of Biochemistry
    62. WANG J; KUDOH J; SHINTANI A; MINOSHIMA S; SHIMIZU N
      IDENTIFICATION OF 2 NOVEL 5'-NONCODING EXONS IN HUMAN MNB DYRK GENE AND ALTERNATIVELY SPLICED TRANSCRIPTS/

      Biochemical and biophysical research communications (Print)
    63. Rahmani, Z; Lopes, C; Rachidi, M; Delabar, JM
      Expression of the Mnb (dyrk) protein in adult and embryonic mouse tissues

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    64. WILMING LG; SNOEREN CAS; VANRIJSWIJK A; GROSVELD F; MEIJERS C
      THE MURINE HOMOLOG OF HIRA, A DIGEORGE-SYNDROME CANDIDATE GENE, IS EXPRESSED IN EMBRYONIC STRUCTURES AFFECTED IN HUMAN CATCH22 PATIENTS

      Human molecular genetics
    65. BUDARF ML; EMANUEL BS
      PROGRESS IN THE AUTOSOMAL SEGMENTAL ANEUSOMY SYNDROMES (SASS) - SINGLE OR MULTILOCUS DISORDERS

      Human molecular genetics
    66. SMITH DJ; RUBIN EM
      FUNCTIONAL SCREENING AND COMPLEX TRAITS - HUMAN 21Q22.2 SEQUENCES AFFECTING LEARNING IN MICE

      Human molecular genetics
    67. TAYLOR C; WADEY R; ODONNELL H; ROBERTS C; MATTEI MG; KIMBER WL; WYNSHAWBORIS A; SCAMBLER PJ
      CLONING AND MAPPING OF MURINE DGCR2 AND ITS HOMOLOGY TO THE SEZ-12 SEIZURE-RELATED PROTEIN

      Mammalian genome
    68. KING BH; STATE MW; SHAH B; DAVANZO P; DYKENS E
      MENTAL-RETARDATION - A REVIEW OF THE PAST 10 YEARS .1.

      Journal of the American Academy of Child and Adolescent Psychiatry
    69. MEHRAEIN Y; WIPPERMANN CF; MICHELBEHNKE I; THI KNN; HILLIG U; GIERSBERG M; AULEPP U; BARTH H; FITZ B; REHDER H
      MICRODELETION 22Q11 IN COMPLEX CARDIOVASCULAR MALFORMATIONS

      Human genetics
    70. SCARTEZZINI P; EGEO A; COLELLA S; FUMAGALLI P; ARRIGO P; NIZETIC D; TARAMELLI R; RASOREQUARTINO A
      CLONING A NEW HUMAN GENE FROM CHROMOSOME 21Q22.3 ENCODING A GLUTAMIC ACID-RICH PROTEIN EXPRESSED IN HEART AND SKELETAL-MUSCLE

      Human genetics
    71. GOLDMUNTZ E; EMANUEL BS
      GENETIC-DISORDERS OF CARDIAC MORPHOGENESIS - THE DIGEORGE AND VELOCARDIOFACIAL SYNDROMES

      Circulation research
    72. CARLSON C; SIROTKIN H; PANDITA R; GOLDBERG R; MCKIE J; WADEY R; PATANJALI SR; WEISSMAN SM; ANYANEYEBOA K; WARBURTON D; SCAMBLER P; SHPRINTZEN R; KUCHERLAPATI R; MORROW BE
      MOLECULAR DEFINITION OF 22Q11 DELETIONS IN 151 VELO-CARDIO-FACIAL-SYNDROME PATIENTS

      American journal of human genetics
    73. LEWIN MB; LINDSAY EA; BALDINI A
      22Q11 DELETIONS AND CARDIAC DISEASE

      Progress in pediatric cardiology
    74. LLEVADOT R; SCAMBLER P; ESTIVILL X; PRITCHARD M
      GENOMIC ORGANIZATION OF TUPLE1 HIRA - A GENE IMPLICATED IN DIGEORGE-SYNDROME/

      Mammalian genome
    75. BLOUIN JL; SAIL GD; ANTONARAKIS SE
      MAPPING OF THE HUMAN HOLOCARBOXYLASE SYNTHETASE GENE (HCS) TO THE DOWN-SYNDROME CRITICAL REGION OF CHROMOSOME 21Q22

      Annales de genetique
    76. DALLAPICCOLA B; PIZZUTI A; NOVELLI G
      HOW MANY BREAKS DO WE NEED TO CATCH ON 22Q11

      American journal of human genetics
    77. SCOTT JA; WENGER SL; STEELE MW; CHAKRAVARTI A
      DOWN-SYNDROME CONSEQUENT TO A CRYPTIC MATERNAL 12P-21Q-CHROMOSOME TRANSLOCATION

      American journal of medical genetics


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Documento generato il 04/08/20 alle ore 16:47:29