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La ricerca find articoli where authors phrase all words ' NORTHRUP H' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 33 riferimenti
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    1. Sohocki, MM; Daiger, SP; Bowne, SJ; Rodriguez, JA; Northrup, H; Heckenlively, JR; Birch, DG; Mintz-Hittner, H; Ruiz, RS; Lewis, RA; Saperstein, DA; Sullivan, LS
      Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

      HUMAN MUTATION
    2. Khare, L; Strizheva, GD; Bailey, JN; Au, KS; Northrup, H; Smith, M; Smalley, SL; Henske, EP
      A novel missense mutation in the GTPase activating protein homology regionof TSC2 in two large families with tuberous sclerosis complex

      JOURNAL OF MEDICAL GENETICS
    3. Arbiser, JL; Yeung, R; Weiss, SW; Arbiser, ZK; Amin, MB; Cohen, C; Frank, D; Mahajan, S; Herron, GS; Yang, JW; Onda, H; Zhang, HB; Bai, XH; Uhlmann, E; Loehr, A; Northrup, H; Au, P; Davis, I; Fisher, DE; Gutmann, DH
      The generation and characterization of a cell line derived from a sporadicrenal angiomyolipoma - Use of telomerase to obtain stable populations of cells from benign neoplasms

      AMERICAN JOURNAL OF PATHOLOGY
    4. Volcik, KA; Blanton, SH; Northrup, H
      Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability

      AMERICAN JOURNAL OF HUMAN GENETICS
    5. Volcik, KA; Blanton, SH; Tyerman, GH; Jong, ST; Rott, EJ; Page, TZ; Romaine, NK; Northrup, H
      Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Astrinidis, A; Khare, L; Carsillo, T; Smolarek, T; Au, KS; Northrup, H; Henske, EP
      Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis

      JOURNAL OF MEDICAL GENETICS
    7. Fletcher, JM; Dennis, M; Northrup, H
      Hydrocephalus

      PEDIATRIC NEUROPSYCHOLOGY
    8. Roach, ES; DiMario, FJ; Kandt, RS; Northrup, H
      Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation

      JOURNAL OF CHILD NEUROLOGY
    9. Au, KS; Hebert, AA; Roach, ES; Northrup, H
      Complete inactivation of the TSC2 gene leads to formation of hamartomas

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Rose, VM; Au, KS; Pollom, G; Roach, ES; Prashner, HR; Northrup, H
      Germ-line mosaicism in tuberous sclerosis: How common?

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. BEAUCHAMP RL; BANWELL A; MCNAMARA P; JACOBSEN M; HIGGINS E; NORTHRUP H; SHORT P; SIMS K; OZELIUS L; RAMESH V
      EXON SCANNING OF THE ENTIRE TSC2 GENE FOR GERMLINE MUTATIONS IN 40 UNRELATED PATIENTS WITH TUBEROUS SCLEROSIS

      Human mutation
    12. Roach, ES; Gomez, MR; Northrup, H
      Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria

      JOURNAL OF CHILD NEUROLOGY
    13. AU KS; RODRIGUEZ JA; FINCH JL; VOLCIK KA; ROACH ES; DELGADO MR; RODRIGUEZ E; NORTHRUP H
      GERM-LINE MUTATIONAL ANALYSIS OF THE TSC2 GENE IN 90 TUBEROUS-SCLEROSIS PATIENTS

      American journal of human genetics
    14. AU KS; RODRIGUEZ JA; RODRIGUEZ E; DOBYNS WB; DELGADO MR; NORTHRUP H
      MUTATIONS AND POLYMORPHISMS IN THE TUBEROUS SCLEROSIS COMPLEX GENE ONCHROMOSOME-16

      Human mutation
    15. BAUMGARTNER JE; WHELESS JW; KULKARNI S; NORTHRUP H; AU KS; SMITH A; BROOKSHIR B
      ON THE SURGICAL-TREATMENT OF REFRACTORY EPILEPSY IN TUBEROUS SCLEROSIS COMPLEX

      Pediatric neurosurgery
    16. RODRIGUEZ JA; EVANS RL; DAIGER SP; NORTHRUP H
      MOLECULAR ANALYSIS OF THE HUMAN VITAMIN-D-BINDING-PROTEIN (GROUP-SPECIFIC COMPONENT, GC) IN TUBEROUS-SCLEROSIS-COMPLEX (TSC)

      Journal of Medical Genetics
    17. NORTHRUP H; RODRIGUEZ E; AU KS; BLANTON S; DOBYNS WB
      LINKAGE STUDIES OF WALKER-WARBURG SYNDROME (WWS) AND CHROMOSOME 9Q31-32

      Annals of Human Genetics
    18. ROSS VM; PRASHNER HR; AU KS; NORTHRUP H
      GONADAL MOSAICISM IN TUBEROUS SCLEROSIS

      American journal of human genetics
    19. ROBBINSFURMAN P; ELDER FFB; MASTROBATTISTA JM; NORTHRUP H; SHAPIRA SK
      PRENATAL-DIAGNOSIS OF DELETION 1Q36 SYNDROME

      American journal of human genetics
    20. ROMAINE NK; JOHNSTON DA; NORTHRUP H
      A GENETIC AND ENVIRONMENTAL-STUDY OF SPINA-BIFIDA BY THE MULTISITE CLOSURE-MODEL

      American journal of human genetics
    21. AU KS; ROACH ES; NORTHRUP H
      A SEVERE RENAL PHENOTYPE RESULTING FROM A TSC2 MUTATION WITHOUT INVOLVEMENT OF THE PKD1 GENE

      American journal of human genetics
    22. SHAPRIA SK; MCCASKILL C; NORTHRUP H; SPIKES AS; ELDER FFB; SUTTON VR; KORENBERG JR; GREENBERG F; SHAFFER LG
      CHROMOSOME 1P36 DELETIONS - THE CLINICAL PHENOTYPE AND MOLECULAR CHARACTERIZATION OF A COMMON NEWLY DELINEATED SYNDROME

      American journal of human genetics
    23. DOBYNS WB; PATTON MA; STRATTON RF; MASTROBATTISTA JM; BLANTON SH; NORTHRUP H
      COBBLESTONE LISSENCEPHALY WITH NORMAL EYES AND MUSCLE

      Neuropediatrics
    24. MCKENNEY RR; ELDER FFB; GARCIA J; NORTHRUP H
      BRACHMANN-DE-LANGE-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE AND MALE-TO-MALE TRANSMISSION

      American journal of medical genetics
    25. AU KS; MURRELL J; BUCKLER A; BLANTON SH; NORTHRUP H
      REPORT OF A CRITICAL RECOMBINATION FURTHER NARROWING THE TSC1 REGION

      Journal of Medical Genetics
    26. HOU J; PARRISH J; LUDECKE HJ; SAPRU M; WANG Y; CHEN W; HILL A; SIEGELBARTELT J; NORTHRUP H; ELDER FFB; CHINAULT C; HORSTHEMKE B; WAGNER MJ; WELLS DE
      A 4-MEGABASE YAC CONTIG THAT SPANS THE LANGER-GIEDION SYNDROME REGIONON HUMAN-CHROMOSOME 8Q24.1 - USE IN REFINING THE LOCATION OF THE TRICHORHINOPHALANGEAL SYNDROME AND MULTIPLE EXOSTOSES GENES (TRPS1 AND EXT1)

      Genomics
    27. GREENSPAN DS; NORTHRUP H; AU KS; MCALLISTER KA; FRANCOMANO CA; WENSTRUP RJ; MARCHUK DA; KWIATKOWSKI DJ
      COL5A1 - FINE GENETIC-MAPPING AND EXCLUSION AS CANDIDATE GENE IN FAMILIES WITH NAIL-PATELLA SYNDROME, TUBEROUS SCLEROSIS-1, HEREDITARY HEMORRHAGIC TELANGIECTASIA, AND EHLERS-DANLOS SYNDROME TYPE-II

      Genomics
    28. MASTROBATTISTA JM; DOLLE P; BLANTON SH; NORTHRUP H
      EVALUATION OF CANDIDATE GENES FOR FAMILIAL BRACHYDACTYLY

      Journal of Medical Genetics
    29. AU KS; ROACH ES; NORTHRUP H
      MUTATIONS OF THE TUBEROUS SCLEROSIS COMPLEX-2 (TSC2) GENE IN AN ISOLATED ANGIOMYOLIPOMA

      American journal of human genetics
    30. DOBYNS WB; PATTON MA; STRATTON RF; MASTROBATTISTA JM; BLANTON SH; NORTHRUP H
      COBBLESTONE LISSENCEPHALY ONLY (CLO) SYNDROME - EXCLUSION FROM CHROMOSOME 9Q31-32

      American journal of human genetics
    31. ATTWOOD J; CHIANO M; COLLINS A; DONISKELLER H; DRACOPOLI N; FOUNTAIN J; FALK C; GOUDIE D; GUSELLA J; HAINES J; ARMOUR JAL; JEFFREYS AJ; KWIATKOWSKI D; LATHROP M; MATISE T; NORTHRUP H; PERICAKVANCE MA; PHILLIPS J; RETIEF A; ROBSON E; SHIELDS D; SLAUGENHAUPT S; VERGNAUD G; WEBER J; WEISSENBACH J; WHITE R; YATES J; POVEY S
      CEPH CONSORTIUM MAP OF CHROMOSOME-9

      Genomics
    32. AU KS; BLANTON SH; KWIATKOWSKI DJ; NORTHRUP H
      FURTHER NARROWING OF THE REGION ON CHROMOSOME-9Q34 CONTAINING THE TSCGENE

      Cytogenetics and cell genetics
    33. AU KS; NORTHRUP H
      DISPLACEMENT LOOP TRIPLEX AFFINITY CAPTURE OF SEQUENCE-SPECIFIC HIGH-MOLECULAR-WEIGHT (HMW) DNA FOR YAC CLONING

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 22:21:23