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La ricerca find articoli where authors phrase all words ' Lich, C' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 12 riferimenti
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    1. 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
    2. Runte, M; Farber, C; Lich, C; Zeschnigk, M; Buchholz, T; Smith, A; Van Maldergem, L; Burger, J; Muscatelli, F; Gillessen-Kaesbach, G; Horsthemke, B; Buiting, K
      Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

      EUROPEAN JOURNAL OF HUMAN GENETICS
    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. Buiting, K; Barnicoat, A; Lich, C; Pembrey, M; Malcolm, S; Horsthemke, B
      Disruption of the bipartite imprinting center in a family with Angelman syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    5. Buiting, K; Farber, C; Kroisel, P; Wagner, K; Brueton, L; Robertson, ME; Lich, C; Horsthemke, B
      Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling

      CLINICAL GENETICS
    6. Gillessen-Kaesbach, G; Demuth, S; Thiele, H; Theile, U; Lich, C; Horsthemke, B
      A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Buiting, K; Lich, C; Cottrell, S; Barnicoat, A; Horsthemke, B
      A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

      HUMAN GENETICS
    8. 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
    9. 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
    10. ZESCHNIGK M; LICH C; BUITING K; DOERFLER W; HORSTHEMKE B
      A SINGLE-TUBE PCR TEST FOR THE DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME BASED ON ALLELIC METHYLATION DIFFERENCES AT THE SNRPN LOCUS

      European journal of human genetics
    11. BURGER J; BUITING K; DITTRICH B; GROSS S; LICH C; SPERLING K; HORSTHEMKE B; REIS A
      DIFFERENT MECHANISMS AND RECURRENCE RISKS OF IMPRINTING DEFECTS IN ANGELMAN-SYNDROME

      American journal of human genetics
    12. HORSTHEMKE B; MAATKIEVIT A; SLEEGERS E; VANDENOUWELAND A; BUITING K; LICH C; MOLLEVANGER P; BEVERSTOCK G; GILLESSENKAESBACH G; SCHWANITZ G
      FAMILIAL TRANSLOCATIONS INVOLVING 15Q11-Q13 CAN GIVE RISE TO INTERSTITIAL DELETIONS CAUSING PRADER-WILLI OR ANGELMAN SYNDROME

      Journal of Medical Genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/20 alle ore 07:57:51