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La ricerca find articoli where authors phrase all words ' Spinner, NB' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 62 riferimenti
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    1. Barlow, GM; Chen, XN; Shi, ZY; Lyons, GE; Kurnit, DM; Celle, L; Spinner, NB; Zackai, E; Pettenati, MJ; Van Riper, AJ; Vekemans, MJ; Mjaatvedt, CH; Korenberg, JR
      Down syndrome congenital heart disease: A narrowed region and a candidate gene

      GENETICS IN MEDICINE
    2. Spinner, NB; Colliton, RP; Crosnier, C; Krantz, ID; Hadchouel, M; Meunier-Rotival, M
      Jagged1 mutations in Alagille syndrome

      HUMAN MUTATION
    3. Morrissette, JJD; Colliton, RP; Spinner, NB
      Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

      HUMAN MOLECULAR GENETICS
    4. Piccoli, DA; Spinner, NB
      Alagille syndrome and the Jagged1 gene

      SEMINARS IN LIVER DISEASE
    5. Morrissette, JJD; Celle, L; Owens, NL; Shields, CL; Zackai, EH; Spinner, NB
      Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Heritage, ML; MacMillan, JC; Colliton, RP; Genin, A; Spinner, NB; Anderson, GJ
      Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

      HUMAN MUTATION
    7. Ozoren, N; Fisher, MJ; Kim, K; Liu, CX; Genin, A; Shifman, Y; Dicker, DT; Spinner, NB; Lisitsyn, NA; El-Deiry, WS
      Homozygous deletion of the death receptor DR4 gene in a nasopharyngeal cancer cell line is associated with TRAIL resistance

      INTERNATIONAL JOURNAL OF ONCOLOGY
    8. Ming, JE; Blagowidow, N; Knoll, JHM; Rollings, L; Fortina, P; McDonald-McGinn, DM; Spinner, NB; Zackai, EH
      Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Spinner, NB
      CADASIL: Notch signaling defect or protein accumulation problem?

      JOURNAL OF CLINICAL INVESTIGATION
    10. Hodes, ME; Woodward, K; Spinner, NB; Emanuel, BS; Enrico-Simon, A; Kamholz, J; Stambolian, D; Zackai, EH; Pratt, VM; Thomas, IT; Crandall, K; Dlouhy, SR; Malcolm, S
      Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Warburton, PE; Dolled, M; Mahmood, R; Alonso, A; Li, SL; Naritomi, K; Tohma, T; Nagai, T; Hasegawa, T; Ohashi, H; Govaerts, LCP; Eussen, BHJ; Van Hemel, JO; Lozzio, C; Schwartz, S; Dowhanick-Morrissette, JJ; Spinner, NB; Rivera, H; Crolla, JA; Yu, CY; Warburton, D
      Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Felix, CA; Hosler, MR; Slater, DJ; Megonigal, MD; Lovett, BD; Williams, TM; Nowell, PC; Spinner, NB; Owens, NL; Hoxie, J; Croce, CM; Lange, BJ; Rappaport, EF
      Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints

      MOLECULAR DIAGNOSIS
    13. Loomes, KM; Underkoffler, LA; Morabito, J; Gottlieb, S; Piccoli, DA; Spinner, NB; Baldwin, HS; Oakey, RJ
      The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome

      HUMAN MOLECULAR GENETICS
    14. Gecz, J; Baker, E; Donnelly, A; Ming, JE; McDonald-McGinn, DM; Spinner, NB; Zackai, EH; Sutherland, GR; Mulley, JC
      Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

      HUMAN GENETICS
    15. Emerick, KM; Rand, EB; Goldmuntz, E; Krantz, ID; Spinner, NB; Piccoli, DA
      Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis

      HEPATOLOGY
    16. Krantz, ID; Smith, R; Colliton, RP; Tinkel, H; Zackai, EH; Piccoli, DA; Goldmuntz, E; Spinner, NB
      Jagged1 mutations in patients ascertained with isolated congenital heart defects

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. Ordentlich, P; Downes, M; Xie, W; Genin, A; Spinner, NB; Evans, RM
      Unique forms of human and mouse nuclear receptor corepressor SMRT

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    18. Spinner, NB
      Alagille syndrome and the notch signaling pathway: New insights into humandevelopment

      GASTROENTEROLOGY
    19. SEIDNER G; ALVAREZ MG; YEH JI; ODRISCOLL KR; KLEPPER J; STUMP TS; WANG D; SPINNER NB; BIRNBAUM MJ; DEVIVO DC
      GLUT-1 DEFICIENCY SYNDROME CAUSED BY HAPLOINSUFFICIENCY OF THE BLOOD-BRAIN-BARRIER HEXOSE CARRIER

      Nature genetics
    20. LOOMES KM; SPINNER NB; PICCOLI DA; OAKEY RJ; PHIL D
      JAGGED1 EXPRESSION IN THE DEVELOPING LIVER - CORRELATION WITH HISTOLOGIC FEATURES IN ALAGILLE-SYNDROME

      Hepatology
    21. SHORE EM; XU MQ; SHAH PB; JANOFF HB; HAHN GV; DEARDORFF MA; SOVINSKY L; SPINNER NB; ZASLOFF MA; WOZNEY JM; KAPLAN FS
      THE HUMAN BONE MORPHOGENETIC PROTEIN-4 (BMP-4) GENE - MOLECULAR-STRUCTURE AND TRANSCRIPTIONAL REGULATION

      Calcified tissue international
    22. PENG Y; GENIN A; SPINNER NB; DIAMOND RH; TAUB R
      THE GENE ENCODING HUMAN NUCLEAR-PROTEIN TYROSINE PHOSPHATASE, PRL-1 -CLONING, CHROMOSOMAL LOCALIZATION, AND IDENTIFICATION OF AN INTRON ENHANCER

      The Journal of biological chemistry
    23. KRANTZ I; SPINNER NB; COLLITON R; GENIN A; PICCOLI DA
      MOLECULAR ANALYSIS OF JAGGEDI IN 26 ALAGILLE SYNDROME FAMILIES DEMONSTRATES THAT NEARLY ALL MUTATIONS ARE PRIVATE AND RESULT IN PREMATURE PROTEIN TERMINATION AND LOSS OF THE TRANSMEMBRANE DOMAIN

      Gastroenterology
    24. KRANTZ ID; COLLITON RP; GENIN A; RAND EB; LI LH; PICCOLI DA; SPINNER NB
      SPECTRUM AND FREQUENCY OF JAGGED1 (JAG1) MUTATIONS IN ALAGILLE-SYNDROME PATIENTS AND THEIR FAMILIES

      American journal of human genetics
    25. WU GS; BURNS TF; MCDONALD ER; JIANG W; MENG R; KRANTZ ID; KAO G; GAN DD; ZHOU JY; MUSCHEL R; HAMILTON SR; SPINNER NB; MARKOWITZ S; WU G; ELDEIRY WS
      KILLER DR5 IS A DNA DAMAGE-INDUCIBLE P53-REGULATED DEATH RECEPTOR GENE/

      Nature genetics
    26. RYAN SG; CHANCE PF; ZOU CH; SPINNER NB; GOLDEN JA; SMIETANA S
      EPILEPSY AND MENTAL-RETARDATION LIMITED TO FEMALES - AN X-LINKED DOMINANT DISORDER WITH MALE SPARING

      Nature genetics
    27. ODA T; ELKAHLOUN AG; PIKE BL; OKAJIMA K; KRANTZ ID; GENIN A; PICCOLI DA; MELTZER PS; SPINNER NB; COLLINS FS; CHANDRASEKHARAPPA SC
      MUTATIONS IN THE HUMAN JAGGED1 GENE ARE RESPONSIBLE FOR ALAGILLE-SYNDROME

      Nature genetics
    28. LI LH; KRANTZ ID; DENG Y; GENIN A; BANTA AB; COLLINS CC; QI M; TRASK BJ; KUO WL; COCHRAN J; COSTA T; PIERPONT MEM; RAND EB; PICCOLI DA; HOOD L; SPINNER NB
      ALAGILLE-SYNDROME IS CAUSED BY MUTATIONS IN HUMAN JAGGED1, WHICH ENCODES A LIGAND FOR NOTCH1

      Nature genetics
    29. ZIMMERMAN JE; BUI QT; STEINGRIMSSON E; NAGLE DL; FU WL; GENIN A; SPINNER NB; COPELAND NG; JENKINS NA; BUCAN M; BONINI NM
      CLONING AND CHARACTERIZATION OF 2 VERTEBRATE HOMOLOGS OF THE DROSOPHILA EYES ABSENT GENE

      PCR methods and applications
    30. PENG Y; SCHWARZ EJ; LAZAR MA; GENIN A; SPINNER NB; TAUB R
      CLONING, HUMAN CHROMOSOMAL ASSIGNMENT, AND ADIPOSE AND HEPATIC EXPRESSION OF THE CL-6 INSIG1 GENE/

      Genomics
    31. KRANTZ ID; RAND EB; GENIN A; HUNT P; JONES M; LOUIS AA; GRAHAM JM; BHATT S; PICCOLI DA; SPINNER NB
      DELETIONS OF 20P12 IN ALAGILLE-SYNDROME - FREQUENCY AND MOLECULAR CHARACTERIZATION

      American journal of medical genetics
    32. KRANTZ ID; PICCOLI DA; SPINNER NB
      ALAGILLE SYNDROME

      Journal of Medical Genetics
    33. FELIX CA; KIM CS; MEGONIGAL MD; SLATER DJ; JONES DH; SPINNER NB; STUMP T; HOSLER MR; NOWELL PC; LANGE BJ; RAPPAPORT EF
      PANHANDLE POLYMERASE CHAIN-REACTION AMPLIFIES MLL GENOMIC TRANSLOCATION BREAKPOINT INVOLVING UNKNOWN PARTNER GENE

      Blood
    34. KRANTZ ID; LI L; COLLITON RP; GENIN A; RAND E; PICCOLI DA; HOOD L; SPINNER NB
      MUTATIONS IN JAGGED1 (JAG1) CAUSE ALAGILLE-SYNDROME

      American journal of human genetics
    35. TINKEL HJ; GENIN A; KLINE R; ZACKAI EH; MICHAELIS RC; HOBBS N; KRANTZ ID; SPINNER NB
      CHROMOSOME-20 DELETIONS AND RELATIONSHIP TO PHENOTYPE

      American journal of human genetics
    36. SCHNUR RE; REED LA; BARNOSKI BL; MCMORROW LE; SPINNER NB; HEYMANN WR
      EPIDERMAL NEVUS SYNDROME MIMICKING HYPOMELANOSIS OF ITO IN AFRICAN-AMERICAN CHILDREN

      American journal of human genetics
    37. ZACKAI EH; STAMBOLIAN D; ENRICO A; MCDONALDMCGINN DM; KAMHOLZ J; EMANUEL BS; SPINNER NB
      FAMILIAL PELIZAEUS-MERZBACHER-DISEASE WITH A PERICENTRIC-INVERSION OFTHE X-CHROMOSOME [INV(X)(P11.4Q22.1)] RESULTING IN PLP GENE

      American journal of human genetics
    38. LI L; KRANTZ ID; DENG Y; GENIN A; BANTA AB; QI M; TOROKSTORB B; MILNER L; TRASK BJ; PICCOLI DA; SPINNER NB; HOOD L
      HUMAN JAGGED-1 (JAG1) - FUNCTIONS IN REGULATION OF MYELOID PROGENITOR-CELL DIFFERENTIATION AND ROLES IN ETIOLOGY OF DEVELOPMENTAL ABNORMALITIES SUCH AS SEEN IN ALAGILLE-SYNDROME

      American journal of human genetics
    39. BASSON CT; MACRAE CA; SCHOENBERGFEJZO M; MORTON CC; SPINNER NB; GENIN A; KRUG E; SEIDMAN JG; SEIDMAN CE
      IDENTIFICATION, CHARACTERIZATION, AND CHROMOSOMAL LOCALIZATION OF THEHUMAN HOMOLOG (HES) OF ES 130/

      Genomics
    40. BINGHAM PM; SPINNER NB; SOVINSKY L; ZACKAI EH; CHANCE PF
      INFANTILE SPASMS ASSOCIATED WITH PROXIMAL DUPLICATION OF CHROMOSOME 15Q

      Pediatric neurology
    41. PELLEGRINO JE; SCHNUR RE; BOGHOSIANSELL L; STRATHDEE G; OVERHAUSER J; SPINNER NB; STUMP T; GRACE K; ZACKAI EH
      ABLEPHARON MACROSTOMIA SYNDROME WITH ASSOCIATED CUTIS LAXA - POSSIBLELOCALIZATION TO 18Q

      Human genetics
    42. KRANTZ ID; GENIN A; PICCOLI DA; COLLINS CC; RAO PN; SPINNER NB
      INVESTIGATION OF SNAP-25 AND PLCB4 AS CANDIDATE GENES FOR ALAGILLE SYNDROME

      Cytogenetics and cell genetics
    43. BERRY GT; MALLEE JJ; KWON HM; RIM JS; MULLA WR; MUENKE M; SPINNER NB
      THE HUMAN OSMOREGULATORY NA+ MYO-INOSITOL COTRANSPORTER GENE (SLC5A3)- MOLECULAR-CLONING AND LOCALIZATION TO CHROMOSOME-21/

      Genomics
    44. PELLEGRINO JE; SCHNUR RE; KLINE R; ZACKAI EH; SPINNER NB
      MOSAIC LOSS OF 15Q11Q13 IN A PATIENT WITH HYPOMELANOSIS OF ITO - IS THERE A ROLE FOR THE P-GENE

      Human genetics
    45. SPINNER NB; GENIN A; OWENS NL; SOVINSKY L; JONES M; GRAHAM J; PICCOLI D; RAND E
      PREVALENCE OF CYTOGENETIC DELETIONS AND IDENTIFICATION OF A SUBMICROSCOPIC DELETION OF 20P12 IN A PATIENT WITH ALAGILLE SYNDROME

      Cytogenetics and cell genetics
    46. SPINNER NB; ZACKAI E; KLINE R; DECHENG S; KNOLL J
      SUPERNUMERARY INV DUP(15) IN A PATIENT WITH ANGELMAN SYNDROME AND DEL(15)(Q11Q13)

      Cytogenetics and cell genetics
    47. SPINNER NB; ZACKAI E; CHENG SD; KNOLL JHM
      SUPERNUMERARY INV DUP(15) IN A PATIENT WITH ANGELMAN SYNDROME AND A DELETION OF 15Q11-]13

      American journal of medical genetics
    48. BERRY GT; MALLEE JJ; KWON HM; RIM JS; MULLA WR; MUENKE M; SPINNER NB
      HUMAN OSMOREGULATORY NA+ MYO-INOSITOL COTRANSPORTER GENE MAPS TO CHROMOSOME-21, 21Q22.1/

      Pediatric research
    49. RAND EB; SPINNER NB; PICCOLI DA; WHITINGTON PF; TAUB R
      MOLECULAR ANALYSIS OF 24 ALAGILLE SYNDROME FAMILIES IDENTIFIES A SINGLE SUBMICROSCOPIC DELETION AND FURTHER LOCALIZES THE ALAGILLE REGION WITHIN 20P12

      American journal of human genetics
    50. SPINNER NB; RAND EB; GENIN A; JONES M; HUNT P; MULLA W; PRETCHER J; PICCOLI DA
      DEFINING THE ALAGILLE SYNDROME CRITICAL REGION ON 20P USING A TRANSLOCATION BREAKPOINT AND OVERLAPPING DELETIONS

      American journal of human genetics
    51. BASON L; KRANTZ I; PRETCHER J; SPINNER NB; ZACKAI EH
      CYTOGENETIC ANALYSIS AS PART OF THE WORK-UP FOR SHORT STATURE IN THE ABSENCE OF DEVELOPMENTAL DELAY OR DYSMORPHIA

      American journal of human genetics
    52. ZACKAI EH; MCDONALDMCGINN DM; BASON L; BINGHAM P; PELLEGRINO J; BIEGEL J; WOLFF DJ; YOUNKIN D; CHANCE PF; SPINNER NB
      MOLECULAR-GENETICS GUIDES CLINICAL GENETICIST - BEDSIDE TO BENCH NOW A 2-WAY STREET

      American journal of human genetics
    53. MULLA WR; KLINE R; GENIN A; WHITEMAN DAH; JONES MC; RAND EB; HANNA JS; SPINNER NB
      CHROMOSOME 20P DELETIONS - MOLECULAR CYTOGENETIC ANALYSIS AND CORRELATION WITH PHENOTYPE

      American journal of human genetics
    54. RAND EB; SPINNER NB; PICCOLI DA; WHITINGTON PF; TAUB R
      MOLECULAR SCREENING OF 24 CYTOGENETICALLY NORMAL ALAGILLE-SYNDROME (AGS) FAMILIES IDENTIFIES A SINGLE SUBMICROSCOPIC DELETION AND FURTHER LOCALIZES THE AGS REGION

      American journal of human genetics
    55. LEE ST; NICHOLLS RD; SCHNUR RE; GUIDA LC; LUKUO J; SPINNER NB; ZACKAI EH; SPRITZ RA
      DIVERSE MUTATIONS OF THE P-GENE AMONG AFRICAN-AMERICANS WITH TYPE-II (TYROSINASE-POSITIVE) OCULOCUTANEOUS ALBINISM (OCA2)

      Human molecular genetics
    56. CHENG SD; SPINNER NB; ZACKAI EH; KNOLL JHM
      CYTOGENETIC AND MOLECULAR CHARACTERIZATION OF INVERTED DUPLICATED CHROMOSOMES 15 FROM 11 PATIENTS

      American journal of human genetics
    57. SPINNER NB; RAND EB; FORTINA P; GENIN A; TAUB R; SEMERARO A; PICCOLI A
      CYTOLOGICALLY BALANCED T(2,20) IN A 2-GENERATION FAMILY WITH ALAGILLE-SYNDROME - CYTOGENETIC AND MOLECULAR STUDIES

      American journal of human genetics
    58. ROBIN NH; MAGNUSSON M; MCDONALDMCGINN D; ZACKAI EH; SPINNER NB
      DE-NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 3, 46, XX, DEL(3) (Q25.1Q26.1)

      Clinical genetics
    59. SPINNER NB; FORTINA P; GENIN A; SURREY S; PICCOLI DA
      LOCALIZATION OF THE ALAGILLE SYNDROME (SYNDROMIC BILE-DUCT PAUCITY) LOCUS TO 20P12 BY BALANCED TRANSLOCATION

      American journal of human genetics
    60. MCDONALDMCGINN DM; GRACE K; SPINNER NB; EMANUEL BS; ZACKAI EH
      CLINICAL AND CYTOGENETIC VARIABILITY IN TRISOMY-8 MOSAICISM

      American journal of human genetics
    61. CHENG SD; SPINNER NB; ZACKAI EH; KNOLL JHM
      MOLECULAR CHARACTERIZATION OF INVERTED DUPLICATED CHROMOSOME-15S AND THEIR SIGNIFICANCE

      American journal of human genetics
    62. MCLEAN SD; SAAL HM; SPINNER NB; EMANUEL BS; DRISCOLL DA
      VELO-CARDIO-FACIAL SYNDROME - INTRAFAMILIAL VARIABILITY OF THE PHENOTYPE

      American journal of diseases of children [1960]


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Documento generato il 13/08/20 alle ore 19:32:00