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    1. Francke, U
      Human genetics around the world

      GENETICS IN MEDICINE
    2. Fulmer-Smentek, SB; Francke, U
      Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region

      HUMAN MOLECULAR GENETICS
    3. Wan, MM; Zhao, KJ; Lee, SSJ; Francke, U
      MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

      HUMAN MOLECULAR GENETICS
    4. Van Raay, TJ; Wang, YK; Stark, MR; Rasmussen, JT; Francke, U; Vetter, ML; Rao, MS
      frizzled 9 is expressed in neural precursor cells in the developing neuraltube

      DEVELOPMENT GENES AND EVOLUTION
    5. Kaplan, P; Wang, PP; Francke, U
      Williams (Williams Beuren) syndrome: A distinct neurobehavioral disorder

      JOURNAL OF CHILD NEUROLOGY
    6. Kerr, AM; Nomura, Y; Armstrong, D; Anvret, M; Belichenko, PV; Budden, S; Cass, H; Christodoulou, J; Clarke, A; Ellaway, C; d'Esposito, M; Francke, U; Hulten, M; Julu, P; Leonard, H; Naidu, S; Schanen, C; Webb, T; Engerstrom, IW; Yamashita, Y; Segawa, M
      Guidelines for reporting clinical features in cases with MECP2 mutations

      BRAIN & DEVELOPMENT
    7. 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
    8. Gastier, JM; Berg, MA; Vesterhus, P; Reiter, EO; Francke, U
      Diverse deletions in the growth hormone receptor gene cause growth hormoneinsensitivity syndrome

      HUMAN MUTATION
    9. Huang, MM; Tsuboi, S; Wong, A; Yu, XJ; Oh-Eda, M; Derry, JM; Francke, U; Fukuda, M; Weinberg, KI; Kohn, DB
      Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins

      GENE THERAPY
    10. Ferguson, PJ; Blanton, SH; Saulsbury, FT; McDuffie, MJ; Lemahieu, V; Gastier, JM; Francke, U; Borowitz, SM; Sutphen, JL; Kelly, TE
      Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. de los Santos, T; Schweizer, J; Rees, CA; Francke, U
      Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Francke, U
      My year as 1999 ASHG President

      AMERICAN JOURNAL OF HUMAN GENETICS
    13. Peoples, R; Franke, Y; Wang, YK; Perez-Jurado, L; Paperna, T; Cisco, M; Francke, U
      A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome-deletion region at 7q11.23

      AMERICAN JOURNAL OF HUMAN GENETICS
    14. Amir, RE; Van den Veyver, IB; Wan, M; Tran, CQ; Francke, U; Zoghbi, HY
      Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

      NATURE GENETICS
    15. Lemahieu, V; Gastier, JM; Francke, U
      Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

      HUMAN MUTATION
    16. Schweizer, J; Zynger, D; Francke, U
      In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit

      HUMAN MOLECULAR GENETICS
    17. Francke, U
      Williams-Beuren syndrome: genes and mechanisms

      HUMAN MOLECULAR GENETICS
    18. Wang, YK; Sporle, R; Paperna, T; Schughart, K; Francke, U
      Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome

      GENOMICS
    19. Ring, HZ; Vameghi-Meyers, V; Nikolic, JM; Min, HS; Black, DL; Francke, U
      Mapping of the KHSRP gene to a region of conserved synteny on human chromosome 19p13.3 and mouse chromosome 17

      GENOMICS
    20. Ring, HZ; Vameghi-Meyers, V; Min, HS; Nikolic, JM; Black, DL; Francke, U
      The mouse Fubp gene maps near the distal end of chromosome 3

      GENOMICS
    21. Ring, HZ; Chang, H; Guilbot, A; Brice, A; LeGuern, E; Francke, U
      The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie Tooth disease linked to 5q

      HUMAN GENETICS
    22. Jurado, LAP; Wang, YK; Francke, U; Cruces, J
      TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog

      CYTOGENETICS AND CELL GENETICS
    23. Franke, Y; Peoples, RJ; Francke, U
      Identification of GTF2IRD 1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23

      CYTOGENETICS AND CELL GENETICS
    24. Rosenbloom, AL; Guevara-Aguirre, J; Rosenfeld, RG; Francke, U
      Commentary - Growth hormone receptor deficiency in Ecuador

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    25. Wan, MM; Lee, SSJ; Zhang, XY; Houwink-Manville, I; Song, HR; Amir, RE; Budden, S; Naidu, S; Pereira, JLP; Lo, IFM; Zoghbi, HY; Schanen, NC; Francke, U
      Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots

      AMERICAN JOURNAL OF HUMAN GENETICS
    26. Schrijver, I; Liu, W; Brenn, T; Furthmayr, H; Francke, U
      Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes

      AMERICAN JOURNAL OF HUMAN GENETICS
    27. Friedman, JM; Blitzer, M; Elsas, LJ; Francke, U; Willard, HF
      Clinical objectives in medical genetics for undergraduate medical students

      GENETICS IN MEDICINE
    28. HITOSHI Y; LORENS J; KITADA SI; FISHER J; LABARGE M; RING HZ; FRANCKE U; REED JC; KINOSHITA S; NOLAN GP
      TOSO, A CELL-SURFACE, SPECIFIC REGULATOR OF FAS-INDUCED APOPTOSIS IN T-CELLS

      Immunity
    29. YANG T; ADAMSON TE; RESNICK JL; LEFF S; WEVRICK R; FRANCKE U; JENKINS NA; COPELAND NG; BRANNAN CI
      A MOUSE MODEL FOR PRADER-WILLI-SYNDROME IMPRINTING-CENTER MUTATIONS

      Nature genetics
    30. JURADO LAP; WANG YK; PEOPLES R; COLOMA A; CRUCES J; FRANCKE U
      A DUPLICATED GENE IN THE BREAKPOINT REGIONS OF THE 7Q11.23 WILLIAMS-BEUREN-SYNDROME DELETION ENCODES THE INITIATOR BINDING-PROTEIN TFII-I AND BAP-135, A PHOSPHORYLATION TARGET OF BTK

      Human molecular genetics
    31. WITONSKY S; FRANCKE U; WOYCHIK RP; WILKINSON JE
      IMMUNOPATHOLOGY OF WISKOTT-ALDRICH TRANSGENIC MICE

      The FASEB journal
    32. RING HZ; VAMEGHIMEYERS V; WANG WD; CRABTREE GR; FRANCKE U
      5 SWI SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN (SMARC) GENES ARE DISPERSED IN THE HUMAN GENOME/

      Genomics (San Diego, Calif.)
    33. BURWINKEL B; MIGLIERINI G; JENNE DE; GILBERT DJ; COPELAND NG; JENKINS NA; RING HZ; FRANCKE U; KILIMANN MW
      STRUCTURE OF THE HUMAN PARALEMMIN GENE (PALM), MAPPING TO HUMAN-CHROMOSOME 19P13.3 AND MOUSE-CHROMOSOME-10, AND EXCLUSION OF CODING MUTATIONS IN GRIZZLED, MOCHA, JITTERY, AND HESITANT MICE

      Genomics
    34. WANG YK; PEREZJURADO LA; FRANCKE U
      A MOUSE SINGLE-COPY GENE, GTF2I, THE HOMOLOG OF HUMAN GTF2I, THAT IS DUPLICATED IN THE WILLIAMS-BEUREN-SYNDROME DELETION REGION

      Genomics
    35. Wan, MH; Cravatt, BF; Ring, HJZ; Zhang, XY; Francke, U
      Conserved chromosomal location and genomic structure of human and mouse fatty-acid amide hydrolase genes and evaluation of clasper as a candidate neurological mutation

      GENOMICS
    36. Paperna, T; Peoples, R; Wang, YK; Kaplan, P; Francke, U
      Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2)are localized within the Williams-Beuren syndrome deletion

      GENOMICS
    37. SCHIEVINK WI; MEYER F; SCHRIJVER I; FRANCKE U
      A SYNDROME OF SPONTANEOUS SPINAL CEREBROSPINAL-FLUID LEAKS AND SKELETAL FEATURES OF MARFAN-SYNDROME

      Annals of neurology
    38. BABCOCK D; GASNER C; FRANCKE U; MASLEN C
      A SINGLE MUTATION THAT RESULTS IN AN ASP TO HIS SUBSTITUTION AND PARTIAL EXON SKIPPING IN A FAMILY WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY

      Human genetics
    39. COLLODBEROUD G; BEROUD C; ADES L; BLACK C; BOXER M; BROCKS DJH; HOLMAN KJ; DEPAEPE A; FRANCKE U; GRAU U; HAYWARD C; KLEIN HG; LIU WG; NUYTINCK L; PELTONEN L; PEREZ ABA; RANTAMAKI T; JUNIEN C; BOILEAU C
      MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE

      Nucleic acids research
    40. Peoples, RJ; Cisco, MJ; Kaplan, P; Francke, U
      Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23

      CYTOGENETICS AND CELL GENETICS
    41. HWANG BJ; TOERING S; FRANCKE U; CHU G
      P48 ACTIVATES A UV-DAMAGED-DNA BINDING-FACTOR AND IS DEFECTIVE IN XERODERMA-PIGMENTOSUM GROUP-E CELL THAT LACK BINDING-ACTIVITY

      Molecular and cellular biology
    42. WAN MH; FRANCKE U
      EVALUATION OF 2 X-CHROMOSOMAL CANDIDATE GENES FOR RETT-SYNDROME - GLUTAMATE DEHYDROGENASE-2 (GLUD2) AND RAB GDP-DISSOCIATION INHIBITOR (GDI1)

      American journal of medical genetics
    43. HEIDARY G; HAMPTON LL; SCHANEN NC; RIVKIN MJ; DARRAS BT; BATTEY J; FRANCKE U
      EXCLUSION OF THE GASTRIN-RELEASING PEPTIDE RECEPTOR (GRPR) LOCUS AS ACANDIDATE GENE FOR RETT-SYNDROME

      American journal of medical genetics
    44. LI LM; FRANCKE U; COHEN SN
      THE TSG101 TUMOR SUSCEPTIBILITY GENE IS LOCATED IN CHROMOSOME-11 BANDP15 AND IS MUTATED IN HUMAN BREAST-CANCER (VOL 88, PG 143, 1997)

      Cell
    45. ROSENBLOOM AL; GUEVARAAGUIRRE J; BERG MA; FRANCKE U
      STATURE IN ECUADORIANS HETEROZYGOUS FOR GROWTH-HORMONE RECEPTOR GENE E180 SPLICE MUTATION DOES NOT DIFFER FROM THAT OF HOMOZYGOUS NORMAL RELATIVES

      The Journal of clinical endocrinology and metabolism
    46. Wojcik, R; Berg, MA; Esposito, N; Geffner, ME; Sakati, N; Reiter, EO; Dower, S; Francke, U; Postel-Vinay, MC; Finidori, J
      Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    47. FRANCKE U; BAKER B
      MOLECULAR CHARACTERIZATION OF DROSOPHILA AND HUMAN CHECK POINT KINASE-1 (CHK1) GENE

      Developmental biology (Print)
    48. SCHANEN C; FRANCKE U
      A SEVERELY AFFECTED MALE BORN INTO A RETT-SYNDROME KINDRED SUPPORTS X-LINKED INHERITANCE AND ALLOWS EXTENSION OF THE EXCLUSION MAP

      American journal of human genetics
    49. LIU WG; QIAN CP; FRANCKE U
      SILENT MUTATION INDUCES EXON SKIPPING OF FIBRILLIN-1 GENE IN MARFAN-SYNDROME

      Nature genetics
    50. SCHANEN NC; HOFFERBERT S; HEIDARY G; ZOGHBI H; FRANCKE U
      MOLECULAR-GENETICS OF RETT-SYNDROME

      European child & adolescent psychiatry
    51. WANG YK; SAMOS CH; PEOPLES R; PEREZJURADO LA; NUSSE R; FRANCKE U
      A NOVEL HUMAN HOMOLOG OF THE DROSOPHILA FRIZZLED WNT RECEPTOR GENE BINDS WINGLESS PROTEIN AND IS IN THE WILLIAMS-SYNDROME DELETION AT 7Q11.23

      Human molecular genetics
    52. WEVRICK R; FRANCKE U
      AN IMPRINTED MOUSE TRANSCRIPT HOMOLOGOUS TO THE HUMAN IMPRINTED IN PRADER-WILLI-SYNDROME (IPW) GENE

      Human molecular genetics
    53. HOFFERBERT S; SCHANEN NC; CHEHAB F; FRANCKE U
      TRINUCLEOTIDE REPEATS IN THE HUMAN GENOME - SIZE DISTRIBUTIONS FOR ALL POSSIBLE TRIPLETS AND DETECTION OF EXPANDED DISEASE ALLELES IN A GROUP OF HUNTINGTON DISEASE INDIVIDUALS BY THE REPEAT EXPANSION DETECTIONMETHOD

      Human molecular genetics
    54. WEDEMEYER N; PEOPLES R; HIMMELBAUER H; LEHRACH H; FRANCKE U; WANKER EE
      LOCALIZATION OF THE HUMAN HIP1 GENE CLOSE TO THE ELASTIN (ELN) LOCUS ON 7Q11.23

      Genomics
    55. CARMECI C; THOMPSON DA; RING HJZ; FRANCKE U; WEIGEL RJ
      IDENTIFICATION OF A GENE (GPR30) WITH HOMOLOGY TO THE G-PROTEIN-COUPLED RECEPTOR SUPERFAMILY ASSOCIATED WITH ESTROGEN-RECEPTOR EXPRESSION IN BREAST-CANCER

      Genomics
    56. SHANG J; LI X; RING HZ; CLAYTON DA; FRANCKE U
      BACKFOOT, A NOVEL HOMEOBOX GENE, MAPS TO HUMAN-CHROMOSOME-5 (BFT) ANDMOUSE CHROMOSOME-13 (BFT)

      Genomics
    57. LIU WG; FARACO J; QIAN CP; FRANCKE U
      THE GENE FOR MICROFIBRIL-ASSOCIATED PROTEIN-1 (MFAP1) IS LOCATED SEVERAL MEGABASES CENTROMERIC TO FBN1 AND IS NOT MUTATED IN MARFAN-SYNDROME

      Human genetics
    58. SCHRIJVER I; LIU WG; FRANCKE U
      THE PATHOGENICITY OF THE PRO1148ALA SUBSTITUTION IN THE FBN1 GENE - CAUSING OR PREDISPOSING TO MARFAN-SYNDROME AND AORTIC-ANEURYSM, OR CLINICALLY INNOCENT

      Human genetics
    59. JURADO LAP; ARGENTE J; BARRIOS V; POZO J; MUNOZ MT; HERNANDEZ M; FRANCKE U
      MOLECULAR DIAGNOSIS AND ENDOCRINE EVALUATION OF A PATIENT WITH A HOMOZYGOUS 7.0 KB DELETION OF THE GROWTH-HORMONE (GH) GENE-CLUSTER - RESPONSE TO BIOSYNTHETIC GH THERAPY

      Journal of pediatric endocrinology & metabolism
    60. HOFFERBERT S; SCHANEN NC; BUDDEN SS; FRANCKE U
      IS RETT-SYNDROME CAUSED BY A TRIPLET REPEAT EXPANSION

      Neuropediatrics
    61. FANG JM; LI X; SMILEY E; FRANCKE U; MECHAM RP; BONADIO J
      MOUSE LATENT TGF-BETA BINDING-PROTEIN-2 - MOLECULAR-CLONING AND DEVELOPMENTAL EXPRESSION

      Biochimica et biophysica acta, N. Gene structure and expression
    62. LI LM; LI X; FRANCKE U; COHEN SN
      THE TSG101 TUMOR SUSCEPTIBILITY GENE IS LOCATED IN CHROMOSOME-11 BANDP15 AND IS MUTATED IN HUMAN BREAST-CANCER

      Cell
    63. ZHOU YD; BARNARD M; TIAN H; LI X; RING HZ; FRANCKE U; SHELTON J; RICHARDSON J; RUSSELL DW; MCKNIGHT SL
      MOLECULAR CHARACTERIZATION OF 2 MAMMALIAN BHLH-PAS DOMAIN PROTEINS SELECTIVELY EXPRESSED IN THE CENTRAL-NERVOUS-SYSTEM

      Proceedings of the National Academy of Sciences of the United Statesof America
    64. GEBE JA; KIENER PA; RING HJZ; LI X; FRANCKE U; ARUFFO A
      MOLECULAR-CLONING, MAPPING TO HUMAN-CHROMOSOME-1 Q21-Q23, AND CELL-BINDING CHARACTERISTICS OF SP-ALPHA, A NEW MEMBER OF THE SCAVENGER-RECEPTOR-CYSTEINE-RICH (SRCR) FAMILY OF PROTEINS

      The Journal of biological chemistry
    65. HUANG MM; WONG A; WEINBERG KI; FRANCKE U; KOHN DB
      EXPRESSION OF HUMAN WISKOTT-ALDRICH-SYNDROME PROTEIN IN PATIENTS PRIMARY HEMATOPOIETIC-CELLS AND EBV-TRANSDUCED CELL-LINES AFTER RETROVIRALVECTOR-MEDIATED GENE TRANSDUCTION

      Blood
    66. YANG T; ADAMSON T; WEYRICK R; FRANCKE U; BRANNAN CI
      A MOUSE MODEL FOR PRADER-WILLI-SYNDROME

      American journal of human genetics
    67. WANG YK; FRANCKE U
      A MOUSE HOMOLOG OF THE HUMAN FRIZZLED RECEPTOR GENE, FZD3, THAT IS DELETED IN WILLIAMS-SYNDROME PATIENTS

      American journal of human genetics
    68. LIU W; OEFNER P; QIAN C; ODOM R; FRANCKE U
      DENATURING HPLC IDENTIFIED NOVEL FBN1 MUTATIONS, POLYMORPHISMS AND SEQUENCE VARIANTS IN MARFAN-SYNDROME PATIENTS

      American journal of human genetics
    69. MASLEN CL; BABCOCK D; GASNER C; FRANCKE U
      CHARACTERIZATION OF A SINGLE MUTATION THAT RESULTS IN AN ASPARTIC-ACID TO HISTIDINE SUBSTITUTION AND PARTIAL EXON SKIPPING IN A PATIENT WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY

      American journal of human genetics
    70. PEOPLES RJ; FRANCKE U
      A RARE RECESSIVE SKELETAL DYSPLASIA AND INFANTILE OBESITY - UNIPARENTAL DISOMY (UPD) RULED OUT

      American journal of human genetics
    71. SCHANEN NC; DAHLE EJR; CAPOZZOLI F; HOLM VA; ZOGHBI HY; FRANCKE U
      A NEW RETT-SYNDROME FAMILY CONSISTENT WITH X-LINKED INHERITANCE EXPANDS THE X-CHROMOSOME EXCLUSION MAP

      American journal of human genetics
    72. FRANCKE U
      WISKOTT-ALDRICH SYNDROME - A DEFECT IN SIGNAL-TRANSDUCTION TO THE CYTOSKELETON IN HEMATOPOIETIC-CELLS

      Molecular biology of the cell
    73. GRATAS C; LI X; WANG YP; FRANCKE U; BECKER D
      CHROMOSOMAL ASSIGNMENT OF 3 HUMAN MELANOCYTE-SPECIFIC GENES

      International journal of oncology
    74. LIU WG; QIAN CP; COMEAU K; BRENN T; FURTHMAYR H; FRANCKE U
      MUTANT FIBRILLIN-1 MONOMERS LACKING EGF-LIKE DOMAINS DISRUPT MICROFIBRIL ASSEMBLY AND CAUSE SEVERE MARFAN-SYNDROME

      Human molecular genetics
    75. ELLISON JW; LI X; FRANCKE U; SHAPIRO LJ
      RAPID EVOLUTION OF HUMAN PSEUDOAUTOSOMAL GENES AND THEIR MOUSE HOMOLOGS

      Mammalian genome
    76. GIACALONE J; LI X; LEHRACH H; FRANCKE U
      HIGH-DENSITY RADIATION HYBRID MAP OF HUMAN-CHROMOSOME-18 AND CONTIG OF 18P

      Genomics
    77. COETZEE T; LI X; FUJITA N; MARCUS J; SUZUKI K; FRANCKE U; POPKO B
      MOLECULAR-CLONING, CHROMOSOMAL MAPPING, AND CHARACTERIZATION OF THE MOUSE UDP-GALACTOSE-CERAMIDE GALACTOSYLTRANSFERASE GENE

      Genomics
    78. MARESCO DL; CHANG E; THEIL KS; FRANCKE U; ANDERSON CL
      THE 3 GENES OF THE HUMAN FCGR1 GENE FAMILY ENCODING FC-GAMMA-RI FLANKTHE CENTROMERE OF CHROMOSOME-1 AT 1P12 AND 1Q21

      Cytogenetics and cell genetics
    79. SCHANEN NC; SCHERER SW; TSUI LC; FRANCKE U
      ASSIGNMENT OF THE 5-HYDROXYTRYPTAMINE (SEROTONIN) RECEPTOR 5A GENE (HTR5A) TO HUMAN-CHROMOSOME BAND 7Q36.1

      Cytogenetics and cell genetics
    80. WEVRICK R; FRANCKE U
      DIAGNOSTIC-TEST FOR THE PRADER-WILLI-SYNDROME BY SNRPN EXPRESSION IN BLOOD

      Lancet
    81. SYMONS M; DERRY JMJ; KARLAK B; JIANG S; LEMAHIEU V; MCCORMICK F; FRANCKE U; ABO A
      WISKOTT-ALDRICH SYNDROME PROTEIN, A NOVEL EFFECTOR FOR THE GTPASE CDC42HS, IS IMPLICATED IN ACTIN POLYMERIZATION

      Cell
    82. BRENN T; AOYAMA T; FRANCKE U; FURTHMAYR H
      DERMAL FIBROBLAST-CULTURE AS A MODEL SYSTEM FOR STUDIES OF FIBRILLIN ASSEMBLY AND PATHOGENETIC MECHANISMS - DEFECTS IN DISTINCT GROUPS OF INDIVIDUALS WITH MARFANS-SYNDROME

      Laboratory investigation
    83. LARRICK JW; LEE J; MA SW; LI X; FRANCKE U; WRIGHT SC; BALINT RF
      STRUCTURAL, FUNCTIONAL-ANALYSIS AND LOCALIZATION OF THE HUMAN CAP18 GENE

      FEBS letters
    84. JURADO LAP; PEOPLES R; KAPLAN P; HAMEL BCJ; FRANCKE U
      MOLECULAR DEFINITION OF THE CHROMOSOME-7 DELETION IN WILLIAMS-SYNDROME AND PARENT-OF-ORIGIN EFFECTS ON GROWTH

      American journal of human genetics
    85. PEOPLES R; PEREZJURADO L; WANG YK; KAPLAN P; FRANCKE U
      THE GENE FOR REPLICATION FACTOR-C SUBUNIT-2 (RFC2) IS WITHIN THE 7Q11.23 WILLIAMS-SYNDROME DELETION

      American journal of human genetics
    86. DIETZ H; FRANCKE U; FURTHMAYR H; FRANCOMANO C; DEPAEPE A; DEVEREUX R; RAMIREZ F; PYERITZ R
      THE QUESTION OF HETEROGENEITY IN MARFAN-SYNDROME

      Nature genetics
    87. DERRY JMJ; KERNS JA; WEINBERG KI; OCHS HD; VOLPINI V; ESTIVILL X; WALKER AP; FRANCKE U
      WASP GENE-MUTATIONS IN WISKOTT-ALDRICH SYNDROME AND X-LINKED THROMBOCYTOPENIA

      Human molecular genetics
    88. YAMAMOTO R; LI X; WINTER S; FRANCKE U; KILIMANN MW
      PRIMARY STRUCTURE OF HUMAN AMPHIPHYSIN, THE DOMINANT - AUTOANTIGEN OFPARANEOPLASTIC STIFF-MAN SYNDROME, AND MAPPING OF ITS GENE (AMPH) TO CHROMOSOME 7P13-P14

      Human molecular genetics
    89. DERRY JMJ; KERNS JA; FRANCKE U
      RBM3, A NOVEL HUMAN GENE IN XP11.23 WITH A PUTATIVE RNA-BINDING DOMAIN

      Human molecular genetics
    90. LAUREYS G; VERSTEEG R; SPELEMAN F; VANDERDRIFT P; FRANCKE U; OPDENAKKER G; VANROY N
      CHARACTERIZATION OF THE CHROMOSOME BREAKPOINTS IN A PATIENT WITH A CONSTITUTIONAL TRANSLOCATION T(1-17)(P36.31-P36.13-Q11.2-Q12) AND NEUROBLASTOMA

      European journal of cancer
    91. LAUREYS G; SPELEMAN F; VERSTEEG R; VANDERDRIFT P; CHAN A; LEROY J; FRANCKE U; OPDENAKKER G; VANROY N
      CONSTITUTIONAL TRANSLOCATION T(1-17)(P36.31-P36.13-Q11.2Q12.1) IN A NEUROBLASTOMA PATIENT. ESTABLISHMENT OF SOMATIC-CELL HYBRIDS AND IDENTIFICATION OF PND A12M2 ON CHROMOSOME-1 AND NF1/SCYA7 ON CHROMOSOME-17 AS BREAKPOINT FLANKING SINGLE-COPY MARKERS/

      Oncogene
    92. LI X; YIN W; PEREZJURADO L; BONADIO J; FRANCKE U
      MAPPING OF HUMAN AND MURINE GENES FOR LATENT TGF-BETA BINDING PROTEIN-2 (LTBP2)

      Mammalian genome
    93. ZHU Q; ZHANG M; BLASE RM; DERRY JMJ; CHEN SH; FRANCKE U; OCHS HD
      MUTATION ANALYSIS OF THE WISKOTT-ALDRICH SYNDROME GENE

      The FASEB journal
    94. DERRY JMJ; JESS U; FRANCKE U
      CLONING AND CHARACTERIZATION OF A NOVEL ZINC-FINGER GENE IN XP11.2

      Genomics
    95. DERRY JMJ; WIEDEMANN P; BLAIR P; WANG Y; KERNS JA; LEMAHIEU V; GODFREY VL; WILKINSON JE; FRANCKE U
      THE MOUSE HOMOLOG OF THE WISKOTT-ALDRICH SYNDROME PROTEIN (WASP) GENEIS HIGHLY CONSERVED AND MAPS NEAR THE SCURFY (SF) MUTATION ON THE X-CHROMOSOME

      Genomics
    96. LI X; LUNA J; LOMBROSO PJ; FRANCKE U
      MOLECULAR-CLONING OF THE HUMAN HOMOLOG OF A STRIATUM-ENRICHED PHOSPHATASE (STEP) GENE AND CHROMOSOMAL MAPPING OF THE HUMAN AND MURINE LOCI

      Genomics
    97. FARACO J; BASHIR M; ROSENBLOOM J; FRANCKE U
      CHARACTERIZATION OF THE HUMAN GENE FOR MICROFIBRIL-ASSOCIATED GLYCOPROTEIN (MFAP2), ASSIGNMENT TO CHROMOSOME 1P36.1-P35, AND LINKAGE TO D1S170

      Genomics
    98. ROSENBLOOM AL; BERG MA; KASATKINA EP; VOLKOVA TN; SKOROBOGATOVA VF; SOKOLOVSKAYA VN; FRANCKE U
      SEVERE GROWTH-HORMONE INSENSITIVITY (LARON SYNDROME) DUE TO NONSENSE MUTATION OF THE GH RECEPTOR IN BROTHERS FROM RUSSIA

      Journal of pediatric endocrinology & metabolism
    99. LI X; FRANCKE U
      ASSIGNMENT OF THE GENE SLC1A2 CODING FOR THE HUMAN GLUTAMATE TRANSPORTER EAAT2 TO HUMAN-CHROMOSOME-11 BANDS P13-P12

      Cytogenetics and cell genetics
    100. LI X; ROSAHL TW; SUDHOF TC; FRANCKE U
      MAPPING OF SYNAPSIN-II (SYN2) GENES TO HUMAN-CHROMOSOME-3P AND MOUSE CHROMOSOME-6 BAND-F

      Cytogenetics and cell genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/10/20 alle ore 05:06:13