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    1. Nicholls, RD; Knepper, JL
      Genome organization, function and imprinting in Prader-Willi and Angelman syndromes

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Chai, JH; Locke, DP; Ohta, T; Greally, JM; Nicholls, RD
      Retrotransposed genes such as Frat3 in the mouse Chromosome 7C Prader-Willi syndrome region acquire the imprinted status of their insertion site

      MAMMALIAN GENOME
    3. Gray, TA; Azama, K; Whitmore, K; Min, A; Abe, S; Nicholls, RD
      Phylogenetic conservation of the makorin-2 gene, encoding a multiple zinc-finger protein, antisense to the RAF1 proto-oncogene

      GENOMICS
    4. Crooijmans, RPMA; Dijkhof, RJM; Veenendaal, T; van der Poel, JJ; Nicholls, RD; Bovenhuis, H; Groenen, MAM
      The gene orders on human chromosome 15 and chicken chromosome 10 reveal multiple inter- and intrachromosomal rearrangements

      MOLECULAR BIOLOGY AND EVOLUTION
    5. Gray, TA; Nicholls, RD
      Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames

      RNA-A PUBLICATION OF THE RNA SOCIETY
    6. Ji, YG; Eichler, EE; Schwartz, S; Nicholls, RD
      Structure of chromosomal duplicons and their role in mediating human genomic disorders

      GENOME RESEARCH
    7. Ji, YG; Rebert, NA; Joslin, JM; Higgins, MJ; Schultz, RA; Nicholls, RD
      Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

      GENOME RESEARCH
    8. Gray, TA; Hernandez, L; Carey, AH; Schaldach, MA; Smithwick, MJ; Rus, K; Graves, JAM; Stewart, CL; Nicholls, RD
      The ancient source of a distinct gene family encoding proteins featuring RING and C3H zinc-finger motifs with abundant expression in developing brainand nervous system

      GENOMICS
    9. Nicholls, RD
      Mosaicism in Prader-Willi syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Greally, JM; Gray, TA; Gabriel, JM; Song, LQ; Zemel, S; Nicholls, RD
      Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center (vol 96, pg 14430, 1999)

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    11. Nicholls, RD
      The impact of genomic imprinting for neurobehavioral and developmental disorders

      JOURNAL OF CLINICAL INVESTIGATION
    12. Nicholls, RD
      Incriminating gene suspects, Prader-Willi style

      NATURE GENETICS
    13. Jong, MTC; Gray, TA; Ji, YG; Glenn, CC; Saitoh, S; Driscoll, DJ; Nicholls, RD
      A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

      HUMAN MOLECULAR GENETICS
    14. Jong, MTC; Carey, AH; Caldwell, KA; Lau, MH; Handel, MA; Driscoll, DJ; Stewart, CL; Rinchik, EM; Nicholls, RD
      Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region

      HUMAN MOLECULAR GENETICS
    15. Ji, YG; Walkowicz, MJ; Buiting, K; Johnson, DK; Tarvin, RE; Rinchik, EM; Horsthemke, B; Stubbs, L; Nicholls, RD
      The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

      HUMAN MOLECULAR GENETICS
    16. Walkowicz, M; Ji, YG; Ren, XJ; Horsthemke, B; Russell, LB; Johnson, D; Rinchik, EM; Nicholls, RD; Stubbs, L
      Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice

      MAMMALIAN GENOME
    17. Nicholls, RD; Ohta, T; Gray, TA
      Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models

      ACTA PAEDIATRICA
    18. Gray, TA; Smithwick, MJ; Schaldach, MA; Martone, DL; Graves, JAM; McCarrey, JR; Nicholls, RD
      Concerted regulation and molecular evolution of the duplicated SNRPB '/B and SNRPN loci

      NUCLEIC ACIDS RESEARCH
    19. Nicholls, RD
      Peer review under review

      SCIENCE
    20. Greally, JM; Gray, TA; Gabriel, JM; Song, LQ; Zemel, S; Nicholls, RD
      Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    21. Gabriel, JM; Merchant, M; Ohta, T; Ji, Y; Caldwell, RG; Ramsey, MJ; Tucker, JD; Longnecker, R; Nicholls, RD
      A transgene insertion creating a heritable chromosome deletion mouse modelof Prader-Willi and Angelman syndromes

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    22. Smilinich, NJ; Day, CD; Fitzpatrick, GV; Caldwell, GM; Lossie, AC; Cooper, PR; Smallwood, AC; Joyce, JA; Schofield, PN; Reik, W; Nicholls, RD; Weksberg, R; Driscoll, DJ; Maher, ER; Shows, TB; Higgins, MJ
      A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    23. Gray, TA; Saitoh, S; Nicholls, RD
      An imprinted, mammalian bicistronic transcript encodes two independent proteins

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    24. Amos-Landgraf, JM; Ji, YG; Gottlieb, W; Depinet, T; Wandstrat, AE; Cassidy, SB; Driscoll, DJ; Rogan, PK; Schwartz, S; Nicholls, RD
      Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. Ohta, T; Buiting, K; Kokkonen, H; McCandless, S; Heeger, S; Leisti, H; Driscoll, DJ; Cassidy, SB; Horsthemke, B; Nicholls, RD
      Molecular mechanism of Angelman syndrome in two large families involves animprinting mutation

      AMERICAN JOURNAL OF HUMAN GENETICS
    26. Ohta, T; Gray, TA; Rogan, PK; Buiting, K; Gabriel, JM; Saitoh, S; Muralidhar, B; Bilienska, B; Krajewska-Walasek, M; Driscoll, DJ; Horsthemke, B; Butler, MG; Nicholls, RD
      Imprinting-mutation mechanisms in Prader-Willi syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    27. GUIDA LC; CHARLTON P; GILBERT DJ; JENKINS NA; COPELAND NG; NICHOLLS RD
      GENETIC-MAPPING OF THE GALANIN-GMAP (GALN) GENE TO MOUSE-CHROMOSOME-19

      Mammalian genome
    28. GABRIEL JM; GRAY TA; STUBBS L; SAITOH S; OHTA T; NICHOLLS RD
      STRUCTURE AND FUNCTION CORRELATIONS AT THE IMPRINTED MOUSE SNRPN LOCUS

      Mammalian genome
    29. NICHOLLS RD
      STRANGE BEDFELLOWS - PROTEIN-DEGRADATION AND NEUROLOGICAL DYSFUNCTION

      Neuron (Cambridge, Mass.)
    30. BUITING K; GROSS S; JI Y; SENGER G; NICHOLLS RD; HORSTHEMKE B
      EXPRESSED COPIES OF THE MN7 (D15F37) GENE FAMILY MAP CLOSE TO THE COMMON DELETION BREAKPOINTS IN THE PRADER-WILLI ANGELMAN-SYNDROMES/

      Cytogenetics and cell genetics
    31. NICHOLLS RD; SAITOH S; HORSTHEMKE B
      IMPRINTING IN PRADER-WILLI AND ANGELMAN-SYNDROMES

      Trends in genetics
    32. Gabriel, JM; Higgins, MJ; Gebuhr, TC; Shows, TB; Saitoh, S; Nicholls, RD
      A model system to study genomic imprinting of human genes

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    33. ROBINSON WP; DUTLY F; NICHOLLS RD; BERNASCONI F; PENAHERRERA M; MICHAELIS RC; ABELIOVICH D; SCHINZEL AA
      THE MECHANISMS INVOLVED IN FORMATION OF DELETIONS AND DUPLICATIONS OF15Q11-Q13

      Journal of Medical Genetics
    34. FRIDMAN C; VARELA MC; NICHOLLS RD; KOIFFMANN CP
      UNUSUAL CLINICAL-FEATURES IN AN ANGELMAN-SYNDROME PATIENT WITH UNIPARENTAL DISOMY DUE TO A TRANSLOCATION 15Q15Q

      Clinical genetics
    35. BUITING K; DITTRICH B; GROSS S; LICH C; FARBER C; BUCHHOLZ T; SMITH E; REIS A; BURGER J; NOTHEN MM; BARTHWITTE U; JANSSEN B; ABELIOVICH D; LERER I; VANDENOUWELAND AMW; HALLEY DJJ; SCHRANDERSTUMPEL C; SMEETS H; MEINECKE P; MALCOLM S; GARDNER A; LALANDE M; NICHOLLS RD; FRIEND K; SCHULZE A; MATTHIJS G; KOKKONEN H; HILBERT P; VANMALDERGEM L; GLOVER G; CARBONELL P; WILLEMS P; GILLESSENKAESBACH G; HORSTHEMKE B
      SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS

      American journal of human genetics
    36. GLENN CC; DRISCOLL DJ; YANG TP; NICHOLLS RD
      GENOMIC IMPRINTING - POTENTIAL FUNCTION AND MECHANISMS REVEALED BY THE PRADER-WILLI AND ANGELMAN SYNDROMES

      Molecular human reproduction
    37. OHTA T; SAITOH S; BUITING K; GABRIEL JM; SCHWARTZ S; CASSIDY SB; ROGAN PK; GLENN CC; DRISCOLL DJ; HORSTHEMKE B; NICHOLLS RD
      IMPRINTING MUTATIONS IN PRADER-WILLI (AND ANGELMAN) SYNDROME EXEMPLIFY A NEW GENETIC MECHANISM

      American journal of medical genetics
    38. SPRITZ RA; BAILIN T; NICHOLLS RD; LEE ST; PARK SK; MASCARI MJ; BUTLER MG
      HYPOPIGMENTATION IN THE PRADER-WILLI-SYNDROME CORRELATES WITH P-GENE DELETION BUT NOT WITH HAPLOTYPE OF THE HEMIZYGOTIC P-ALLELE

      American journal of medical genetics
    39. CONNERTONMOYER KJ; NICHOLLS RD; SCHWARTZ S; DRISCOLL DJ; HENDRICKSON JE; WILLIAMS CA; PAULI RM
      UNEXPECTED FAMILIAL RECURRENCE IN ANGELMAN SYNDROME

      American journal of medical genetics
    40. CASSIDY SB; FORSYTHE M; HEEGER S; NICHOLLS RD; SCHORK N; BENN P; SCHWARTZ S
      COMPARISON OF PHENOTYPE BETWEEN PATIENTS WITH PRADER-WILLI-SYNDROME DUE TO DELETION 15Q AND UNIPARENTAL DISOMY-15

      American journal of medical genetics
    41. SAITOH S; BUITING K; CASSIDY SB; CONROY JM; DRISCOLL DJ; GABRIEL JM; GILLESSENKAESBACH G; GLENN CC; GREENSWAG LR; HORSTHEMKE B; KONDO I; KUWAJIMA K; NIIKAWA N; ROGAN PK; SCHWARTZ S; SEIP J; WILLIAMS CA; NICHOLLS RD
      CLINICAL SPECTRUM AND MOLECULAR DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME PATIENTS WITH AN IMPRINTING MUTATION

      American journal of medical genetics
    42. NICHOLLS RD
      VALUE FOR MONEY IN US LABORATORIES

      Nature
    43. AMOSLANDGRAF JM; JI Y; WANDSTRAT AE; DRISCOLL DJ; SCHWARTZ S; NICHOLLS RD
      RECOMBINATION BETWEEN LARGE, TRANSCRIPTIONALLY ACTIVE REPEATED ELEMENTS AT THE PROXIMAL AND DISTAL BREAKPOINTS IN PRADER-WILLI AND ANGELMAN-SYNDROMES

      American journal of human genetics
    44. ZARAGOZA MV; SURTI U; REDLINE RW; NICHOLLS RD; HASSOLD TJ
      EXPRESSION OF IMPRINTED LOCI IN HUMAN PLACENTA - TRANSCRIPTION OF MATERNALLY-EXPRESSED LOCI IN COMPLETE HYDATIDIFORM MOLES

      American journal of human genetics
    45. JI Y; WALKOWICZ MJ; BUITING K; RINCHIK EM; AMOSLANDGRAF JM; TARVIN RE; HORSTHEMKE B; JOHNSON DK; STUBBS L; NICHOLLS RD
      CHARACTERIZATION OF A LARGE TRANSCRIPT ASSOCIATED WITH NEUROMUSCULAR TREMOR, RUNTING, JUVENILE LETHALITY, AND SPERM DEFECTS IN JDF2 MICE

      American journal of human genetics
    46. JOHNSON DK; DAHAR MS; REBERT NA; NICHOLLS RD
      A MOUSE MODEL FOR ANGELMAN-SYNDROME

      American journal of human genetics
    47. GABRIEL JM; GRAY TA; OHTA T; STUBBS L; NICHOLLS RD
      STRUCTURE FUNCTION CORRELATIONS IN THE IMPRINTED MOUSE SNRPN GENE LOCUS/

      American journal of human genetics
    48. GRAY TA; MARTIN CL; NICHOLLS RD
      MAKORIN - THE SOURCE FOR A FAMILY OF RETROPOSED RING ZINC-FINGER GENES

      American journal of human genetics
    49. SAITOH S; WADA T; DRISCOLL DJ; SCHWARTZ S; NICHOLLS RD
      LIGATION-MEDIATED METHYLATION-PCR FOR RAPID MOLECULAR DIAGNOSIS OF PRADER-WILLI AND ANGELMAN-SYNDROMES

      American journal of human genetics
    50. HIGGINS MJ; COOPER PR; NOWAK NJ; REID LH; CRIDERMILLER SJ; DAVIES C; GABRIEL JM; NICHOLLS RD; DEJONG P; EVANS G; WEISSMANN BE; SHOWS TB
      LOSS OF IMPRINTING AT A NOVEL DIFFERENTIALLY-METHYLATED 11P15.5 CPG-ISLAND AND IGF2 IN A BWS FETUS WITH AN INVERSION CHROMOSOME-11

      American journal of human genetics
    51. OHTA T; BUITING K; KOKKONEN H; SAITOH S; MCCANDLESS S; CASSIDY SB; DRISCOLL DJ; HORSTHEMKE B; NICHOLLS RD
      MOLECULAR ANALYSIS IN 2 LARGE AS IMPRINTING MUTATION (IM) FAMILIES AND IDENTIFICATION OF MICRODELETION JUNCTIONS IN AS AND PWS IM FAMILIES

      American journal of human genetics
    52. CONROY JM; GREBE TA; BECKER LA; TSUCHIYA K; NICHOLLS RD; BUITING K; HORSTHEMKE B; CASSIDY SB; SCHWARTZ S
      BALANCED TRANSLOCATION 46,XY,T(2-15)(Q37.2-Q11.2) ASSOCIATED WITH ATYPICAL PRADER-WILLI-SYNDROME

      American journal of human genetics
    53. GUNAYAYGUN M; CASSIDY SB; NICHOLLS RD
      PRADER-WILLI AND OTHER SYNDROMES ASSOCIATED WITH OBESITY AND MENTAL-RETARDATION

      Behavior genetics
    54. DITTRICH B; BUITING K; KORN B; RICKARD S; BUXTON J; SAITOH S; NICHOLLS RD; POUSTKA A; WINTERPACHT A; ZABEL B; HORSTHEMKE B
      IMPRINT SWITCHING ON HUMAN-CHROMOSOME-15 MAY INVOLVE ALTERNATIVE TRANSCRIPTS OF THE SNRPN GENE

      Nature genetics
    55. SUN YM; NICHOLLS RD; BUTLER MG; SAITOH S; HAINLINE BE; PALMER CG
      BREAKAGE IN THE SNRPN LOCUS IN A BALANCED 46,XY,T(15-19) PRADER-WILLI-SYNDROME PATIENT

      Human molecular genetics
    56. NICHOLLS RD; AMOSLANDGRAF J; WANDSTRAT AE; SCHWARTZ S; CASSIDY SB; JI Y; DRISCOLL DJ; GLENN CC; SUN Y; PALMER CG; BUITING K; HORSTHEMKE B; SAITOH S
      MECHANISMS INVOLVED IN PRADER-WILLI AND ANGELMAN SYNDROME (VOL 64, PG573, 1996)

      American journal of medical genetics
    57. NICHOLLS RD; AMOSLANDGRAF J; WANDSTRAT AE; SCHWARTZ S; CASSIDY SB; JI Y; DRISCOLL DJ
      MECHANISMS INVOLVED IN PRADER-WILLI AND ANGELMAN SYNDROME

      American journal of medical genetics
    58. SCHWARTZ S; GREBE T; WOLFF D; BECKER L; CONROY J; NICHOLLS RD; HORSTHEMKE B; BUITING K; CASSIDY SB
      AN UNUSUAL TRANSLOCATION WITHIN THE PRADER-WILLI ANGELMAN SYNDROME CRITICAL REGION IN 15Q11-15Q13 ASSOCIATED WITH CLINICAL PRADER-WILLI-SYNDROME/

      American journal of medical genetics
    59. ROGAN PK; MASCARI MJ; LADDA RL; WOODAGE T; TRENT RJ; SMITH A; LAI LW; ERICKSON RP; CASSIDY SB; PETERSEN MB; MIKKELSEN M; DRISCOLL DJ; NICHOLLS RD; BUTLER MG
      COINHERITANCE OF OTHER CHROMOSOME-15 ABNORMALITIES WITH PRADER-WILLI-SYNDROME - GENETIC RISK-ESTIMATION AND MAPPING

      American journal of medical genetics
    60. MOWERYRUSHTON PA; DRISCOLL DJ; NICHOLLS RD; LOCKER J; SURTI U
      DNA METHYLATION PATTERNS IN HUMAN TISSUES OF UNIPARENTAL ORIGIN USINGA ZINC-FINGER GENE (ZNF127) FROM THE ANGELMAN PRADER-WILLI REGION/

      American journal of medical genetics
    61. SAITOH S; BUITING K; ROGAN PK; BUXTON JL; DRISCOLL DJ; ARNEMANN J; KONIG R; MALCOLM S; HORSTHEMKE B; NICHOLLS RD
      MINIMAL DEFINITION OF THE IMPRINTING CENTER AND FIXATION OF A CHROMOSOME 15Q11-Q13 EPIGENOTYPE BY IMPRINTING MUTATIONS

      Proceedings of the National Academy of Sciences of the United Statesof America
    62. WHITE LM; ROGAN PK; NICHOLLS RD; WU BL; KORF B; KNOLL JHM
      ALLELE-SPECIFIC REPLICATION OF 15Q11-Q13 LOCI - A DIAGNOSTIC-TEST FORDETECTION OF UNIPARENTAL DISOMY

      American journal of human genetics
    63. CASSIDY SB; BEAUDET AL; KNOLL JHM; LEDBETTER DH; NICHOLLS RD; SCHWARTZ S; BUTLER MG; WATSON M
      DIAGNOSTIC TESTING FOR PRADER-WILLI AND ANGELMAN SYNDROMES - REPORT OF THE ASHC ACMC TEST AND TECHNOLOGY-TRANSFER COMMITTEE/

      American journal of human genetics
    64. GLENN CC; SAITOH S; JONG MTC; FILBRANDT MM; SURTI U; DRISCOLL DJ; NICHOLLS RD
      GENE STRUCTURE, DNA METHYLATION, AND IMPRINTED EXPRESSION OF THE HUMAN SNRPN GENE

      American journal of human genetics
    65. OSKAM L; HARTSKEERL RA; HERMANS CJ; DEWIT MYL; JARINGS GH; NICHOLLS RD; KLATSER PR
      A 46 KDA INTEGRAL MEMBRANE-PROTEIN FROM MYCOBACTERIUM-LEPRAE RESEMBLES A NUMBER OF BACTERIAL AND MAMMALIAN MEMBRANE-TRANSPORT PROTEINS

      Microbiology
    66. BUITING K; SAITOH S; GROSS S; DITTRICH B; SCHWARTZ S; NICHOLLS RD; HORSTHEMKE B
      INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15

      Nature genetics
    67. BUITING K; SAITOH S; GROSS S; BITTRICH B; SCHWARTZ S; NICHOLLS RD; HORSTHEMKE B
      INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15 (VOL 9, PG 395, 1995)

      Nature genetics
    68. LEE ST; NICHOLLS RD; JONG MTC; FUKAI K; SPRITZ RA
      ORGANIZATION AND SEQUENCE OF THE HUMAN P-GENE AND IDENTIFICATION OF ANEW FAMILY OF TRANSPORT PROTEINS

      Genomics
    69. CASSIDY SB; FORSYTHE M; HEEGER S; NICHOLLS RD; SCHWARTZ S
      PHENOTYPIC DIFFERENCES BETWEEN PATIENTS WITH PRADER-WILLI-SYNDROME DUE TO DELETION 15Q AND UNIPARENTAL DISOMY-15

      American journal of human genetics
    70. KNOLL JHM; ROGAN PK; NICHOLLS RD; WU B; KORF B; WHITE L
      ALLELE-SPECIFIC REPLICATION OF 15Q11Q13 LOCI - A DIAGNOSTIC-TEST FOR DETECTION OF UNIPARENTAL DISOMY

      American journal of human genetics
    71. CONROY J; GREBE TA; WOLFF D; BECKER L; NICHOLLS RD; HORSTHEMKE B; BUITING K; CASSIDY SB; SCHWARTZ S
      AN UNUSUAL TRANSLOCATION WITHIN THE PRADER-WILLI ANGELMAN SYNDROME CRITICAL REGION ASSOCIATED WITH CLINICAL PRADER-WILLI-SYNDROME/

      American journal of human genetics
    72. GABRIEL J; AMOSLANDGRAF J; BROWN C; HIGGINS M; SHOWS T; WILLARD HF; SAITOH S; NICHOLLS RD
      A SOMATIC-CELL HYBRID MODEL TO STUDY GENOMIC IMPRINTING

      American journal of human genetics
    73. SAITOH S; ROGAN PK; BUITING K; SCHWARTZ S; CASSIDY SB; GLENN CC; DRISCOLL DJ; HORSTHEMKE B; NICHOLLS RD
      MINIMAL DEFINITION OF THE IMPRINTING CENTER AND FIXATION OF A CHROMOSOME 15Q11-Q13 EPIGENOTYPE BY IMPRINTING MUTATIONS

      American journal of human genetics
    74. SUN Y; NICHOLLS RD; DLOUHY SR; VANCE GH; HEEREMA NA; PALMER CG
      BREAKPOINT AND GENE-EXPRESSION ANALYSIS IN A PRADER-WILLI PATIENT WITH A T(15-19)(Q12-Q13.41)

      American journal of human genetics
    75. DRISCOLL DJ; FILBRANDT M; GLENN CC; GRAY BA; BLAYDES SM; NICHOLLS RD; WHIDDEN EW; ZORI RT; WILLIAMS CA
      DISTRIBUTION OF GENOTYPIC CLASSES IN ANGELMAN SYNDROME

      American journal of human genetics
    76. GLENN CC; SURTI U; SAITOH S; NICHOLLS RD; DRISCOLL DJ
      THE IMPRINTED SNRPN GENE IS EXPRESSED IN BOTH OVARIAN TERATOMAS AND HYDATIDIFORM MOLES

      American journal of human genetics
    77. 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
    78. GABRIEL J; GOTTLIEB W; GARCIA A; ROGAN PK; SAITOH S; NICHOLLS RD
      A COMMON INSERTION DELETION POLYMORPHISM IN THE PRADER-WILLI-SYNDROMEMINIMAL CRITICAL REGION/

      Human molecular genetics
    79. NICHOLLS RD
      COMMENTARY - RECOMBINATION MODEL FOR GENERATION OF A SUBMICROSCOPIC DELETION IN FAMILIAL ANGELMAN SYNDROME

      Human molecular genetics
    80. NICHOLLS RD; JONG MTC; GLENN CC; CAREY AH; SAITOH S; PORTER KA; CEDAR H; STUBBS L; LAU ME; STEWART C; RINCHIK EM; DRISCOLL DJ
      COMPLEX MOLECULAR MECHANISMS AND MULTIPLE GENES ARE INVOLVED IN PRADER-WILLI AND ANGELMAN SYNDROMES

      Journal of cellular biochemistry
    81. ROGAN PK; MASCARI MJ; LADDA RL; WOODAGE T; TRENT RJ; SMITH A; LAI LW; ERICKSON RP; CASSIDY SB; PETERSEN MB; MIKKELSEN M; DRISCOLL DJ; NICHOLLS RD
      PERTURBED RECOMBINATION OF CHROMOSOME-15 IN PRADER-WILLI PATIENTS WITH MATERNAL DISOMY

      Cytogenetics and cell genetics
    82. NICHOLLS RD
      IMPRINTING - THE EMBRYO AND ADULT POINT-OF-VIEW

      Trends in genetics
    83. NICHOLLS RD
      IMPRINTING - THE EMBRYO AND ADULT POINT-OF-VIEW

      Trends in genetics
    84. LEE ST; NICHOLLS RD; BUNDEY S; LAXOVA R; MUSARELLA M; SPRITZ RA
      MUTATIONS OF THE P-GENE IN OCULOCUTANEOUS ALBINISM, OCULAR ALBINISM, AND PRADER-WILLI-SYNDROME PLUS ALBINISM

      The New England journal of medicine
    85. NICHOLLS RD
      NEW INSIGHTS REVEAL COMPLEX MECHANISMS INVOLVED IN GENOMIC IMPRINTING

      American journal of human genetics
    86. GLENN CC; NICHOLLS RD; ROBINSON WP; SAITOH S; NIIKAWA N; SCHINZEL A; HORSTHEMKE B; DRISCOLL DJ
      MODIFICATION OF 15Q11-Q13 DNA METHYLATION IMPRINTS IN UNIQUE ANGELMANAND PRADER-WILLI PATIENTS

      Human molecular genetics
    87. GLENN CC; PORTER KA; JONG MTC; NICHOLLS RD; DRISCOLL DJ
      FUNCTIONAL IMPRINTING AND EPIGENETIC MODIFICATION OF THE HUMAN SNRPN GENE

      Human molecular genetics
    88. HOLDENER BC; BROWN SDM; ANGEL JM; NICHOLLS RD; KELSEY G; MAGNUSON T
      MOUSE CHROMOSOME-7

      Mammalian genome
    89. POLVI A; ARMSTRONG E; LAI C; LEMKE G; HUEBNER K; SPRITZ RA; GUIDA LC; NICHOLLS RD; ALITALO K
      THE HUMAN TYR03 GENE AND PSEUDOGENE ARE LOCATED IN CHROMOSOME 15Q14-Q25

      Gene
    90. CLAYTONSMITH J; DRISCOLL DJ; WATERS MF; WEBB T; ANDREWS T; MALCOLM S; PEMBREY ME; NICHOLLS RD
      DIFFERENCE IN METHYLATION PATTERNS WITHIN THE D15S9 REGION OF CHROMOSOME 15Q11-13 IN 1ST COUSINS WITH ANGELMAN SYNDROME AND PRADER-WILLI-SYNDROME

      American journal of medical genetics
    91. KITSBERG D; SELIG S; BRANDEIS M; SIMON I; KESHET I; DRISCOLL DJ; NICHOLLS RD; CEDAR H
      ALLELE-SPECIFIC REPLICATION TIMING OF IMPRINTED GENE REGIONS

      Nature
    92. NICHOLLS RD
      BEATING FRAUD

      Nature
    93. CULIAT CT; STUBBS L; NICHOLLS RD; MONTGOMERY CS; RUSSELL LB; JOHNSON DK; RINCHIK EM
      CONCORDANCE BETWEEN ISOLATED CLEFT-PALATE IN MICE AND ALTERATIONS WITHIN A REGION INCLUDING THE GENE ENCODING THE BETA(3)-SUBUNIT OF THE TYPE-A GAMMA-AMINOBUTYRIC-ACID RECEPTOR

      Proceedings of the National Academy of Sciences of the United Statesof America
    94. LEE ST; NICHOLLS RD; SPRITZ RA
      MUTATIONS OF THE P-GENE IN TYPE-II OCULOCUTANEOUS ALBINISM, PRADER-WILLI-SYNDROME PLUS ALBINISM, AND AUTOSOMAL RECESSIVE OCULAR ALBINISM

      American journal of human genetics
    95. DRISCOLL DJ; PORTER KA; GLENN CC; WILLIAMS CA; ZORI R; WHIDDEN E; GOTTLIEB W; FILBRANDT M; BOWERS L; GRAY B; NICHOLLS RD
      MOLECULAR, CLINICAL AND CYTOGENETIC STUDIES OF THE ANGELMAN AND PRADER-WILLI SYNDROMES

      American journal of human genetics
    96. MASCARI MJ; LADDA RL; WOODAGE T; TRENT RJ; LAI LW; ERICKSON RP; CASSIDY SB; PETERSEN MB; MIKKELSEN M; DRISCOLL DJ; NICHOLLS RD; ROGAN PK
      PERTURBED RECOMBINATION OF CHROMOSOME-15 IN PRADER-WILLI PATIENTS WITH MATERNAL DISOMY

      American journal of human genetics
    97. GOTTLIEB W; ROGAN PK; DRISCOLL DJ; NICHOLLS RD
      ANALYSIS OF CHROMOSOME-BREAKAGE MECHANISMS IN PRADER-WILLI AND ANGELMAN SYNDROMES

      American journal of human genetics
    98. CAREY AH; LAU MH; JONG MTC; WARREN G; NICHOLLS RD; STEWART CL
      ANALYSIS OF 2 NOVEL ZINC-FINGER GENES, ZNF127 AND ZNF127-L1, EXPRESSED DURING MOUSE DEVELOPMENT

      American journal of human genetics
    99. PORTER KA; GLENN CC; NICHOLLS RD; DRISCOLL DJ
      PARENT SPECIFIC DNA METHYLATION AND GENE-EXPRESSION AT HUMAN SNRPN

      American journal of human genetics
    100. JONG MTC; CAREY AH; STEWART CL; RINCHIK EM; GLENN CC; DRISCOLL DJ; NICHOLLS RD
      THE ZNF127 GENE ENCODES A NOVEL C3HC4 ZINC-FINGER PROTEIN AND ITS EXPRESSION IS REGULATED BY GENOMIC IMPRINTING

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/10/20 alle ore 10:26:25