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    1. McKusick, VA
      The anatomy of the human genome - A neo-Vesalian basis for medicine in the21st century

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    2. Collins, FS; McKusick, VA
      Implications of the Human Genome Project for medical science

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    3. Collins, FS; McKusick, VA
      Translation of genomic research into health care - Reply

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    4. Peltonen, L; McKusick, VA
      Genomics and medicine - Dissecting human disease in the postgenomic era

      SCIENCE
    5. Venter, JC; Adams, MD; Myers, EW; Li, PW; Mural, RJ; Sutton, GG; Smith, HO; Yandell, M; Evans, CA; Holt, RA; Gocayne, JD; Amanatides, P; Ballew, RM; Huson, DH; Wortman, JR; Zhang, Q; Kodira, CD; Zheng, XQH; Chen, L; Skupski, M; Subramanian, G; Thomas, PD; Zhang, JH; Miklos, GLG; Nelson, C; Broder, S; Clark, AG; Nadeau, C; McKusick, VA; Zinder, N; Levine, AJ; Roberts, RJ; Simon, M; Slayman, C; Hunkapiller, M; Bolanos, R; Delcher, A; Dew, I; Fasulo, D; Flanigan, M; Florea, L; Halpern, A; Hannenhalli, S; Kravitz, S; Levy, S; Mobarry, C; Reinert, K; Remington, K; Abu-Threideh, J; Beasley, E; Biddick, K; Bonazzi, V; Brandon, R; Cargill, M; Chandramouliswaran, I; Charlab, R; Chaturvedi, K; Deng, ZM; Di Francesco, V; Dunn, P; Eilbeck, K; Evangelista, C; Gabrielian, AE; Gan, W; Ge, WM; Gong, FC; Gu, ZP; Guan, P; Heiman, TJ; Higgins, ME; Ji, RR; Ke, ZX; Ketchum, KA; Lai, ZW; Lei, YD; Li, ZY; Li, JY; Liang, Y; Lin, XY; Lu, F; Merkulov, GV; Milshina, N; Moore, HM; Naik, AK; Narayan, VA; Neelam, B; Nusskern, D; Rusch, DB; Salzberg, S; Shao, W; Shue, BX; Sun, JT; Wang, ZY; Wang, AH; Wang, X; Wang, J; Wei, MH; Wides, R; Xiao, CL; Yan, CH; Yao, A; Ye, J; Zhan, M; Zhang, WQ; Zhang, HY; Zhao, Q; Zheng, LS; Zhong, F; Zhong, WY; Zhu, SPC; Zhao, SY; Gilbert, D; Baumhueter, S; Spier, G; Carter, C; Cravchik, A; Woodage, T; Ali, F; An, HJ; Awe, A; Baldwin, D; Baden, H; Barnstead, M; Barrow, I; Beeson, K; Busam, D; Carver, A; Center, A; Cheng, ML; Curry, L; Danaher, S; Davenport, L; Desilets, R; Dietz, S; Dodson, K; Doup, L; Ferriera, S; Garg, N; Gluecksmann, A; Hart, B; Haynes, J; Haynes, C; Heiner, C; Hladun, S; Hostin, D; Houck, J; Howland, T; Ibegwam, C; Johnson, J; Kalush, F; Kline, L; Koduru, S; Love, A; Mann, F; May, D; McCawley, S; McIntosh, T; McMullen, I; Moy, M; Moy, L; Murphy, B; Nelson, K; Pfannkoch, C; Pratts, E; Puri, V; Qureshi, H; Reardon, M; Rodriguez, R; Rogers, YH; Romblad, D; Ruhfel, B; Scott, R; Sitter, C; Smallwood, M; Stewart, E; Strong, R; Suh, E; Thomas, R; Tint, NN; Tse, S; Vech, C; Wang, G; Wetter, J; Williams, S; Williams, M; Windsor, S; Winn-Deen, E; Wolfe, K; Zaveri, J; Zaveri, K; Abril, JF; Guigo, R; Campbell, MJ; Sjolander, KV; Karlak, B; Kejariwal, A; Mi, HY; Lazareva, B; Hatton, T; Narechania, A; Diemer, K; Muruganujan, A; Guo, N; Sato, S; Bafna, V; Istrail, S; Lippert, R; Schwartz, R; Walenz, B; Yooseph, S; Allen, D; Basu, A; Baxendale, J; Blick, L; Caminha, M; Carnes-Stine, J; Caulk, P; Chiang, YH; Coyne, M; Dahlke, C; Mays, AD; Dombroski, M; Donnelly, M; Ely, D; Esparham, S; Fosler, C; Gire, H; Glanowski, S; Glasser, K; Glodek, A; Gorokhov, M; Graham, K; Gropman, B; Harris, M; Heil, J; Henderson, S; Hoover, J; Jennings, D; Jordan, C; Jordan, J; Kasha, J; Kagan, L; Kraft, C; Levitsky, A; Lewis, M; Liu, XJ; Lopez, J; Ma, D; Majoros, W; McDaniel, J; Murphy, S; Newman, M; Nguyen, T; Nguyen, N; Nodell, M; Pan, S; Peck, J; Peterson, M; Rowe, W; Sanders, R; Scott, J; Simpson, M; Smith, T; Sprague, A; Stockwell, T; Turner, R; Venter, E; Wang, M; Wen, MY; Wu, D; Wu, M; Xia, A; Zandieh, A; Zhu, XH
      The sequence of the human genome

      SCIENCE
    6. McKusick, VA
      Persisting memories of Cyril Clarke in Baltimore

      JOURNAL OF MEDICAL GENETICS
    7. McKusick, VA
      The century of the gene.

      BULLETIN OF THE HISTORY OF MEDICINE
    8. Antonarakis, SE; McKusick, VA
      OMIM passes the 1,000-disease-gene mark

      NATURE GENETICS
    9. McKusick, VA
      Ellis-van Creveld syndrome and the Amish

      NATURE GENETICS
    10. Hamosh, A; Scott, AF; Amberger, J; Valle, D; McKusick, VA
      Online Mendelian Inheritance in Man (OMIM)

      HUMAN MUTATION
    11. Killoran, CE; Abbott, M; McKusick, VA; Biesecker, LG
      Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical andmolecular analysis

      CLINICAL GENETICS
    12. McKusick, VA
      A. McGhee Harvey, July 30, 1911 May 8, 1998 - In memoriam

      PROCEEDINGS OF THE AMERICAN PHILOSOPHICAL SOCIETY
    13. McKusick, VA
      Abner McGehee Harvey 1911-1998 - In memoriam

      PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS
    14. Smith, FJD; McKusick, VA; Nielsen, K; Pfendner, E; Uitto, J; McLean, WHI
      Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

      PRENATAL DIAGNOSIS
    15. Wilkin, DJ; Artz, AS; South, S; Lachman, RS; Rimoin, DL; Wilcox, WR; McKusick, VA; Stratakis, CA; Francomano, CA; Cohn, DH
      Small deletions in the type II collagen triple helix produce Kniest dysplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. McKusick, VA
      A grade 6 systolic murmur

      NEW ENGLAND JOURNAL OF MEDICINE
    17. McKusick, VA; Naggert, J; Nishina, P; Valle, D
      40 years of the annual 'Bar Harbor Course' (1960-1999): a pictorial history

      CLINICAL GENETICS
    18. MCKUSICK VA
      OSKI,FRANK,A. - 1932-1996

      Proceedings of the Association of American Physicians
    19. MCKUSICK VA
      ON THE NAMING OF CLINICAL DISORDERS, WITH PARTICULAR REFERENCE TO EPONYMS

      Medicine
    20. SMITH FJD; STEIJLEN PM; MCKENNA K; HEALY E; REES JL; FISHER MP; BONIFAS JM; EPSTEIN EH; MCKUSICK VA; TAN E; UITTO J; MCLEAN WHI
      CLONING OF MULTIPLE K16 GENES AND GENOTYPE-PHENOTYPE CORRELATION IN PACHYONYCHIA-CONGENITA TYPE-I AND FOCAL PPK

      Journal of investigative dermatology
    21. MCKUSICK VA
      MOLECULAR-GENETICS IN CLINICAL-PRACTICE - THE SERIES BEGINS

      Hospital practice
    22. MCKUSICK VA
      OBSERVATIONS OVER 50 YEARS CONCERNING INTESTINAL POLYPOSIS, MARFAN-SYNDROME AND ACHONDROPLASIA

      Nature medicine
    23. GOEBEL HH; SEDDIGH S; HOPF HC; UEMICHI T; BENSON MD; MCKUSICK VA
      A EUROPEAN FAMILY WITH HISTIDINE-58 TRANSTHYRETIN MUTATION IN FAMILIAL AMYLOID POLYNEUROPATHY

      Neuromuscular disorders
    24. ARCH EM; GOODMAN BK; VANWESEP RA; LIAW D; CLARKE K; PARSONS R; MCKUSICK VA; GERAGHTY MT
      DELETION OF PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE

      American journal of medical genetics
    25. MCKUSICK VA
      MAPPING THE HUMAN GENOME - RETROSPECTIVE, PERSPECTIVE AND PROSPECTIVE

      Proceedings of the American Philosophical Society
    26. HOWARD TD; GUTTMACHER AE; MCKINNON W; SHARMA M; MCKUSICK VA; JABS EW
      AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY, NAIL DYSTROPHY, AND DENTAL ABNORMALITIES MAP TO CHROMOSOME 4P16, IN THE REGION CONTAINING THE ELLIS-VAN-CREVELD-SYNDROME LOCUS

      American journal of human genetics
    27. MCKINNON W; GUTTMACHER AE; HOWARD TD; MCKUSICK VA; JABS EW
      AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY, NAIL DYSTROPHY, AND DENTAL ABNORMALITIES MAP TO CHROMOSOME 4P16 IN THE REGION CONTAINING THE ELLIS-VAN-CREVELD-SYNDROME LOCUS

      American journal of human genetics
    28. ARCH EM; GOODMAN BK; LIAW D; PARSONS R; VANWESEP RA; CLARKE K; MCKUSICK VA; GERAGHTY MT
      DELETION OF 10Q23.2-Q24.1 INCLUDING PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE

      American journal of human genetics
    29. SMITH FJD; FISHER MP; HEALY E; REES JL; MCKUSICK VA; BONIFAS JM; EPSTEIN EH; UITTO J; MCLEAN WHI
      MISSENSE OR IN-FRAME DELETION MUTATIONS IN HUMAN KERATIN-16 CAN CAUSEVARIABLE PHENOTYPES OF PACHYONYCHIA AND OR PALMOPLANTAR KERATODERMA/

      American journal of human genetics
    30. BEUTLER E; MCKUSICK VA; MOTULSKY AG; SCRIVER CR; HUTCHINSON F
      MUTATION NOMENCLATURE - NICKNAMES, SYSTEMATIC NAMES, AND UNIQUE IDENTIFIERS

      Human mutation
    31. GOTT VL; LASCHINGER JC; CAMERON DE; DIETZ HC; GREENE PS; GILLINOV AM; PYERITZ RE; ALEJO DE; FLEISCHER KJ; ANHALT GJ; STONE CD; MCKUSICK VA
      THE MARFAN-SYNDROME AND THE CARDIOVASCULAR SURGEON

      European journal of cardio-thoracic surgery
    32. MCKUSICK VA; AMBERGER JS; FRANCOMANO CA
      PROGRESS IN MEDICAL GENETICS - MAP-BASED GENE DISCOVERY AND THE MOLECULAR PATHOLOGY OF SKELETAL DYSPLASIAS

      American journal of medical genetics
    33. MCKUSICK VA
      REVIEWS IN MOLECULAR MEDICINE

      Medicine
    34. GOTT VL; GILLINOV AM; PYERITZ RE; CAMERON DE; REITZ BA; GREENE PS; STONE CD; FERRIS RL; ALEJO DE; MCKUSICK VA
      AORTIC ROOT REPLACEMENT - RISK FACTOR-ANALYSIS OF A 17-YEAR EXPERIENCE WITH 270 PATIENTS

      Journal of thoracic and cardiovascular surgery
    35. COTTON RGH; MCKUSICK VA
      GENE-SPECIFIC MUTATION DATABASES

      American journal of human genetics
    36. ROMEO G; MCKUSICK VA
      PHENOTYPIC DIVERSITY, ALLELIC SERIES AND MODIFIER GENES

      Nature genetics
    37. ANTONARAKIS SE; MCKUSICK VA
      DISCUSSION ON MUTATION NOMENCLATURE

      Human mutation
    38. TUGENDREICH S; BASSETT DE; MCKUSICK VA; BOGUSKI MS; HIETER P
      GENES CONSERVED IN YEAST AND HUMANS

      Human molecular genetics
    39. SULISALO T; FRANCOMANO CA; SISTONEN P; MAHER JF; MCKUSICK VA; DELACHAPELLE A; KAITILA I
      HIGH-RESOLUTION GENETIC-MAPPING OF THE CARTILAGE-HAIR HYPOPLASIA (CHH) GENE IN AMISH AND FINNISH FAMILIES

      Genomics
    40. MCKUSICK VA
      ALKAPTONURIA - TRACKED DOWN TO CHROMOSOME-3

      Genomics
    41. GOTT VL; CAMERON DE; PYERITZ RE; GILLINOV AM; GREENE PS; STONE CD; ALEJO DE; MCKUSICK VA
      COMPOSITE GRAFT REPAIR OF MARFAN ANEURYSM OF THE ASCENDING AORTA - RESULTS IN 150 PATIENTS

      Journal of cardiac surgery
    42. LEBWOHL M; NELDNER K; POPE FM; DEPAEPE A; CHRISTIANO AM; BOYD CD; UITTO J; MCKUSICK VA
      CLASSIFICATION OF PSEUDOXANTHOMA ELASTICUM - REPORT OF A CONSENSUS CONFERENCE

      Journal of the American Academy of Dermatology
    43. MCKUSICK VA
      FAUCI,ANTHONY,S. AND WOLFF,SHELDON,M

      Medicine
    44. WILKIE AOM; AMBERGER JS; MCKUSICK VA
      A GENE MAP OF CONGENITAL-MALFORMATIONS

      Journal of Medical Genetics
    45. MCKUSICK VA; AMBERGER JS
      THE MORBID ANATOMY OF THE HUMAN GENOME - CHROMOSOMAL LOCATION OF MUTATIONS CAUSING DISEASE (UPDATE 1 DECEMBER 1993)

      Journal of Medical Genetics
    46. ROSENFELD PJ; MCKUSICK VA; AMBERGER JS; DRYJA TP
      RECENT ADVANCES IN THE GENE MAP OF INHERITED EYE DISORDERS - PRIMARY HEREDITARY-DISEASES OF THE RETINA, CHOROID, AND VITREOUS

      Journal of Medical Genetics
    47. MCKUSICK VA
      MEDICAL GENETICS - A 40-YEAR PERSPECTIVE ON THE EVOLUTION OF A MEDICAL SPECIALTY FROM A BASIC SCIENCE

      JAMA, the journal of the American Medical Association


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 03:30:38