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La ricerca find articoli where soggetti phrase all words 'ANGELMAN SYNDROMES' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 59 riferimenti
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    1. Pujana, MA; Nadal, M; Gratacos, M; Peral, B; Csiszar, K; Gonzalez-Sarmiento, R; Sumoy, L; Estivill, X
      Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26

      GENOME RESEARCH
    2. El-Maarri, O; Buiting, K; Peery, EG; Kroisel, PM; Balaban, B; Wagner, K; Urman, B; Heyd, J; Lich, C; Brannan, CI; Walter, J; Horsthemke, B
      Maternal methylation imprints on human chromosome 15 are established during or after fertilization

      NATURE GENETICS
    3. Bussey, KJ; Lawce, HJ; Himoe, E; Shu, XO; Heerema, NA; Perlman, EJ; Olson, SB; Magenis, RE
      SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development

      GENES CHROMOSOMES & CANCER
    4. Bliek, J; Maas, SM; Ruijter, JM; Hennekam, RCM; Alders, M; Westerveld, A; Mannens, MMAM
      Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

      HUMAN MOLECULAR GENETICS
    5. 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
    6. Balmer, D; LaSalle, JM
      Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 butnot intron 7

      HUMAN GENETICS
    7. Fuller, BB; Spaulding, DT; Smith, DR
      Regulation of the catalytic activity of preexisting tyrosinase in Black and Caucasian human melanocyte cell cultures

      EXPERIMENTAL CELL RESEARCH
    8. Silverstein, S; Lerer, I; Buiting, K; Abeliovich, D
      The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. Wylie, AA; Murphy, SK; Orton, TC; Jirtle, RL
      Novel imprinted DLK11 GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF21 H19 regulation

      GENOME RESEARCH
    10. 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
    11. Butler, MG; Thompson, T
      Prader-Willi syndrome: Clinical and genetic findings

      ENDOCRINOLOGIST
    12. Cassidy, SB
      Clinical and laboratory diagnosis of Prader-Willi syndrome

      ENDOCRINOLOGIST
    13. Lee, PDK; Allen, DB; Angulo, MA; Cappa, M; Carrel, AL; Castro-Magana, M; Chiumello, G; Davies, PSW; Eiholzer, U; Grugni, G; Hauffa, BP; Hintz, RL; Lammer, C; Mogul, HR; Myers, SE; Partsch, CJ; Pescovitz, OH; Ritzen, EM; Rosenfeld, RG; Sipila, I; Wilson, DM
      Consensus statement - Prader-Willi syndrome: Growth hormone (GH)/insulin-like growth factor axis deficiency and GH treatment

      ENDOCRINOLOGIST
    14. Muscatelli, F; Abrous, DN; Massacrier, A; Boccaccio, I; La Moal, M; Cau, P; Cremer, H
      Disruption of the mouse Necdin gene results in hypothalamic and behavioralalterations reminiscent of the human Prader-Willi syndrome

      HUMAN MOLECULAR GENETICS
    15. Cattanach, BM; Peters, J; Ball, S; Rasberry, C
      Two imprinted gene mutations: three phenotypes

      HUMAN MOLECULAR GENETICS
    16. 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
    17. Muralidhar, B; Marney, A; Butler, MG
      Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities

      GENETICS IN MEDICINE
    18. Smith, A
      The diagnosis of Prader-Willi syndrome

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    19. 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
    20. Buiting, K; Korner, C; Ulrich, B; Wahle, E; Horsthemke, B
      The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11 -> q13

      CYTOGENETICS AND CELL GENETICS
    21. Akefeldt, A; Tornhage, CJ; Gillberg, C
      A woman with Prader-Willi syndrome gives birth to a healthy baby girl

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    22. Buiting, K; Dittrich, B; Dworniczak, B; Lerer, I; Abeliovich, D; Cottrell, S; Temple, IK; Harvey, JF; Lich, C; Gross, S; Horsthemke, B
      A 28-kb deletion spanning D15S63 (PW71) in five families: A rare neutral variant?

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. FIELDSTONE A; ZIPF WB; SARTER MF; BERNTSON GG
      FOOD-INTAKE IN PRADER-WILLI-SYNDROME AND CONTROLS WITH OBESITY AFTER ADMINISTRATION OF A BENZODIAZEPINE RECEPTOR AGONIST

      Obesity research
    24. CHRISTIAN SL; BHATT NK; MARTIN SZ; SUTCLIFFE JS; KUBOTA T; HUANG B; MUTIRANGURA A; CHINAULT AC; BEAUDET AL; LEDBETTER DH
      INTEGRATED YAC CONTIG MAP OF THE PRADER-WILLI ANGELMAN-REGION ON CHROMOSOME-15Q11-Q13 WITH AVERAGE STS SPACING OF 35-KB/

      PCR methods and applications
    25. KLOSOWSKI S; DELOBEL B; MORISOT C; KONGOLO G; BIANCALANA V; THELLIEZ P; DJEBARA A; CROQUETTE MF; DEROUBAIX P
      UNUSUAL MECHANISM IN PRADER-WILLI-SYNDROME - CONSEQUENCES FOR GENETIC-COUNSELING

      Archives de pediatrie
    26. MONAGHAN KG; VANDYKE DL; FELDMAN GL
      PRADER-WILLI-LIKE-SYNDROME IN A PATIENT WITH AN XQ23Q25 DUPLICATION

      American journal of medical genetics
    27. REPETTO GR; WHITE LM; BADER PJ; JOHNSON D; KNOLL JHM
      INTERSTITIAL DUPLICATIONS OF CHROMOSOME REGION 15Q11Q13 - CLINICAL AND MOLECULAR CHARACTERIZATION

      American journal of medical genetics
    28. Akefeldt, A; Ekman, R; Gillberg, C; Mansson, JE
      Cerebrospinal fluid monoamines in Prader-Willi syndrome

      BIOLOGICAL PSYCHIATRY
    29. STATE MW; KING BH; DYKENS E
      MENTAL-RETARDATION - A REVIEW OF THE PAST 10 YEARS .2.

      Journal of the American Academy of Child and Adolescent Psychiatry
    30. FIELDSTONE A; ZIPF WB; SCHWARTZ HC; BERNTSON GG
      FOOD PREFERENCES IN PRADER-WILLI-SYNDROME, NORMAL-WEIGHT AND OBESE CONTROLS

      International journal of obesity
    31. BUCHHOLZ T; JACKSON J; SMITH A
      METHYLATION ANALYSIS AT 3 DIFFERENT LOCI WITHIN THE IMPRINTED REGION OF CHROMOSOME 15Q11-13

      American journal of medical genetics
    32. ELIEZ S; MORRIS MA; DAHOUNHADORN S; DELOZIERBLANCHET CD; GOS A; SIZONENKO P; ANTONARAKIS SE
      FAMILIAL TRANSLOCATION T(Y-15)(Q12-P11) AND DE-NOVO DELETION OF THE PRADER-WILLI-SYNDROME (PWS) CRITICAL REGION ON 15Q11-Q13

      American journal of medical genetics
    33. BARABASH A; ROBLEDO M; SANZ R; RENEDO M; RAMOS C; AYUSO C; BENITEZ J
      A CLINICAL, CYTOGENETIC AND MOLECULAR STU DY OF 10 PATIENTS WITH THE PRADER-WILLI-SYNDROME

      Medicina Clinica
    34. ARRIETA I; NUNEZ T; GIL A; FLORES P; DENANCLARES GP; MARTINEZ B
      A CASE OF PRADER-WILLI-SYNDROME ASSOCIATED WITH MOSAICISM - CYTOGENETIC AND FISH STUDY

      Genes & genetic systems
    35. 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
    36. LINDGREN AC; GRANDELL U; RITZEN EM; ANVRET M
      DIAGNOSIS OF THE PRADER-WILLI-SYNDROME BY PROVING THE ABSENCE OF THE UNMETHYLATED PW71 DNA FRAGMENT

      Acta paediatrica
    37. VGONTZAS AN; KALES A; SEIP J; MASCARI MJ; BIXLER EO; MYERS DC; VELABUENO A; ROGAN PK
      RELATIONSHIP OF SLEEP ABNORMALITIES TO PATIENT GENOTYPES IN PRADER-WILLI-SYNDROME

      American journal of medical genetics
    38. ABELIOVICH D; DAGAN J; LERER I; SILBERSTEIN S; KATZNELSON MBM; FRYDMAN M
      T(15-21)(Q15-Q22.1)PAT RESULTING IN PARTIAL TRISOMY AND PARTIAL MONOSOMY OF CHROMOSOME-15 AND CHROMOSOME-21 IN 2 OFFSPRING

      American journal of medical genetics
    39. KUBOTA T; SUTCLIFFE JS; ARADHYA S; GILLESSENKAESBACH G; CHRISTIAN SL; HORSTHEMKE B; BEAUDET AL; LEDBETTER DH
      VALIDATION STUDIES OF SNRPN METHYLATION AS A DIAGNOSTIC-TEST FOR PRADER-WILLI-SYNDROME

      American journal of medical genetics
    40. BUTLER MG
      MOLECULAR DIAGNOSIS OF PRADER-WILLI-SYNDROME - COMPARISON OF CYTOGENETIC AND MOLECULAR-GENETIC DATA INCLUDING PARENT OF ORIGIN DEPENDENT METHYLATION DNA PATTERNS

      American journal of medical genetics
    41. WEVRICK R; FRANCKE U
      DIAGNOSTIC-TEST FOR THE PRADER-WILLI-SYNDROME BY SNRPN EXPRESSION IN BLOOD

      Lancet
    42. KUBOTA T; ARADHYA S; MACHA M; SMITH ACM; SURH LC; SATISH J; VERP MS; NEE HL; JOHNSON A; CHRISTIAN SL; LEDBETTER DH
      ANALYSIS OF PARENT OF ORIGIN SPECIFIC DNA METHYLATION AT SNRPN AND PW71 IN TISSUES - IMPLICATION FOR PRENATAL-DIAGNOSIS

      Journal of Medical Genetics
    43. 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
    44. ABELIOVICH D; DAGAN J; WERNER M; LERER I; SHAPIRA Y; MEINER V
      SIMULTANEOUS FORMATION OF INV DUP(15) AND DUP(15Q) IN A GIRL WITH DEVELOPMENTAL DELAY - ORIGIN OF THE ABNORMAL CHROMOSOMES

      European journal of human genetics
    45. CLARKE DJ; BOER H; WEBB T
      GENETIC AND BEHAVIORAL ASPECTS OF PRADER-WILLI-SYNDROME - A REVIEW WITH A TRANSLATION OF THE ORIGINAL PAPER

      Mental handicap research
    46. GUNARATNE PH; NAKAO M; LEDBETTER DH; SUTCLIFFE JS; CHINAULT AC
      TISSUE-SPECIFIC AND ALLELE-SPECIFIC REPLICATION TIMING CONTROL IN THEIMPRINTED HUMAN PRADER-WILLI-SYNDROME REGION

      Genes & development
    47. CLARKE DJ; WEBB T; BACHMANNCLARKE JP
      PRADER-WILLI-SYNDROME AND PSYCHOTIC SYMPTOMS - REPORT OF A FURTHER CASE

      Irish journal of psychological medicine
    48. LIN MS; ZHANG A; FUJIMOTO A
      ASYNCHRONOUS DNA-REPLICATION BETWEEN 15Q11.2Q12 HOMOLOGS - CYTOGENETIC EVIDENCE FOR MATERNAL IMPRINTING AND DELAYED REPLICATION

      Human genetics
    49. 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
    50. RINCHIK EM; CARPENTER DA; HANDEL MA
      PLEIOTROPY IN MICRODELETION SYNDROMES - NEUROLOGIC AND SPERMATOGENIC ABNORMALITIES IN MICE HOMOZYGOUS FOR THE P(6H) DELETION ARE LIKELY DUETO DYSFUNCTION OF A SINGLE-GENE

      Proceedings of the National Academy of Sciences of the United Statesof America
    51. JOHNSON DK; STUBBS LJ; CULIAT CT; MONTGOMERY CS; RUSSELL LB; RINCHIK EM
      MOLECULAR ANALYSIS OF 36 MUTATIONS AT THE MOUSE PINK-EYED DILUTION (P) LOCUS

      Genetics
    52. AKEFELDT A; ANVRET M; GRANDELL U; NORDLINDER R; GILLBERG C
      PARENTAL EXPOSURE TO HYDROCARBONS IN PRADER-WILLI-SYNDROME

      Developmental Medicine and Child Neurology
    53. BUITING K; DITTRICH B; ROBINSON WP; GUITART M; ABELIOVICH D; LERER I; HORSTHEMKE B
      DETECTION OF ABERRANT DNA METHYLATION IN UNIQUE PRADER-WILLI-SYNDROMEPATIENTS AND ITS DIAGNOSTIC IMPLICATIONS

      Human molecular genetics
    54. DITTRICH B; BUITING K; GROSS S; HORSTHEMKE B
      AN INSERTION DELETION POLYMORPHISM AT THE D15S63 LOCUS IN THE CRITICAL PRADER-WILLI-SYNDROME REGION IN 15Q11-13/

      Human genetics
    55. LERER I; MEINER V; PASHUTLAVON I; ABELIOVICH D
      MOLECULAR DIAGNOSIS OF PRADER-WILLI-SYNDROME - PARENT-OF-ORIGIN DEPENDENT METHYLATION SITES AND NONISOTOPIC DETECTION OF (CA)(N) DINUCLEOTIDE REPEAT POLYMORPHISMS

      American journal of medical genetics
    56. OETTING WS; KING RA
      MOLECULAR-BASIS OF OCULOCUTANEOUS ALBINISM

      Journal of investigative dermatology
    57. TOHMA T; TAMURA T; OHTA T; SOEJIMA H; KUBOTA T; JINNO Y; TSUKAMOTO K; NAKAMURA Y; NARITOMI K; NIIKAWA N
      COSMID CLONES FROM MICRODISSECTED HUMAN CHROMOSOMAL REGION-15Q11-Q13

      Japanese journal of human genetics
    58. NAKATSU Y; TYNDALE RF; DELOREY TM; DURHAMPIERRE D; GARDNER JM; MCDANEL HJ; NGUYEN Q; WAGSTAFF J; LALANDE M; SIKELA JM; OLSEN RW; TOBIN AJ; BRILLIANT MH
      A CLUSTER OF 3 GABA(A) RECEPTOR SUBUNIT GENES IS DELETED IN A NEUROLOGICAL MUTANT OF THE MOUSE P-LOCUS

      Nature
    59. LAI LW; ERICKSON RP; CASSIDY SB
      CLINICAL CORRELATES OF CHROMOSOME-15 DELETIONS AND MATERNAL DISOMY INPRADER-WILLI-SYNDROME

      American journal of diseases of children [1960]


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/05/20 alle ore 23:43:46