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    1. Pyeritz, RE
      The Ehlers-Danlos syndromes: Instructive for all cases of joint hypermobility?

      JCR-JOURNAL OF CLINICAL RHEUMATOLOGY
    2. Rogers, WJ; Hu, YL; Coast, D; Vido, DA; Kramer, CM; Pyeritz, RE; Reichek, N
      Age-associated changes in regional aortic pulse wave velocity

      JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
    3. Greendale, K; Pyeritz, RE
      Empowering primary care health professionals in medical genetics: How soon? How fast? How far?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Pyeritz, RE
      Disorders of vascular fragility - Implications for active patients

      PHYSICIAN AND SPORTSMEDICINE
    5. Horwitz, EM; Prockop, DJ; Gordon, PL; Koo, WWK; Fitzpatrick, LA; Neel, MD; McCarville, ME; Orchard, PJ; Pyeritz, RE; Brenner, MK
      Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta

      BLOOD
    6. Majors, AK; Pyeritz, RE
      A deficiency of cysteine impairs fibrillin-1 deposition: Implications for the pathogenesis of cystathionine beta-synthase deficiency

      MOLECULAR GENETICS AND METABOLISM
    7. Herzka, A; Sponseller, PD; Pyeritz, RE
      Atlantoaxial rotatory subluxation in patients with Marfan syndrome - A report of three cases

      SPINE
    8. Pyeritz, RE
      The Marfan syndrome

      ANNUAL REVIEW OF MEDICINE
    9. Pyeritz, RE
      Ehlers-Danlos syndrome type IV. Reply

      NEW ENGLAND JOURNAL OF MEDICINE
    10. Pyeritz, RE
      Ehlers-Danlos syndrome.

      NEW ENGLAND JOURNAL OF MEDICINE
    11. Haddow, JE; Bradley, LA; Palomaki, GE; Doherty, RA; Bernhardt, BA; Brock, DJH; Cheuvront, B; Cunningham, GC; Donnenfeld, AE; Erickson, JL; Erlick, HA; Ferrie, RM; FitzSimmons, SC; Greene, MF; Grody, WW; Haddow, PK; Harris, H; Holmes, LB; Howell, RR; Katz, M; Klinger, KW; Kloza, EM; LeFevre, ML; Little, S; Loeben, G; McGovern, M; Pyeritz, RE; Rowley, PT; Saiki, RK; Short, MP; Tabone, J; Wald, NJ; Wilker, NL; Witt, DR
      Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference (vol 1, pg 129, 1999)

      GENETICS IN MEDICINE
    12. Haddow, JE; Bradley, LA; Palomaki, GE; Doherty, RA; Bernhardt, BA; Brock, DJH; Cheuvront, B; Cunningham, GC; Donnenfeld, AE; Erickson, JL; Erlich, HA; Ferrie, RM; FitzSimmons, SC; Greene, MF; Grody, WW; Haddow, PK; Harris, H; Holmes, LB; Howell, RR; Katz, M; Klinger, KW; Kloza, EM; LeFevre, ML; Little, S; Loeben, G; McGovern, M; Pyeritz, RE; Rowley, PT; Saiki, RK; Short, MP; Tabone, J; Wald, NJ; Wilker, NL; Witt, DR
      Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference

      GENETICS IN MEDICINE
    13. Horwitz, EM; Prockop, DJ; Fitzpatrick, LA; Koo, WWK; Gordon, PL; Neel, M; Sussman, M; Orchard, P; Marx, JC; Pyeritz, RE; Brenner, MK
      Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta

      NATURE MEDICINE
    14. Glass, RM; Fontanarosa, PB; Rennie, D; Winker, MA; Southgate, MT; Clayman, CB; Cole, HM; Cole, TB; Cooper, DS; Mark, DH; Meyer, HS; Olson, CM; Siegel, RH; Smith, JM; Zylke, JW; Clark, RA; Cook, DJ; Vaisrub, N; Flanagin, A; Breedlove, C; Young, RK; Jefferseon, TC; Silberg, WM; Goldsmith, M; Iverson, C; Williams, E; Albert, DM; Arndt, KA; Barchas, JD; Bowman, MA; Dalen, JE; DeAngelis, CD; Johns, ME; Larrabee, WF; Organ, CH; Rosenberg, RN; Banta, HD; Berger, M; Blendon, RJ; Chalmers, I; DeBakey, L; Evens, RG; Johnston, CI; Lindberg, DAB; Maisonneuve, H; Naylor, CD; Pellegrino, ED; Pyeritz, RE; Reinhardt, UE; Riis, P; Roper, WL; Terada, M
      JAMA and editorial independence

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    15. Yuan, B; Thomas, JP; von Kodolitsch, Y; Pyeritz, RE
      Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

      HUMAN MUTATION
    16. Glass, RM; Fontanarosa, PB; Rennie, D; Winker, MA; Southgate, MT; Clayman, CB; Cole, HM; Cole, TB; Cooper, DS; Mark, DH; Meyer, HS; Olson, CM; Siegel, RH; Smith, JM; Zylke, JW; Clark, RA; Cook, DJ; Vaisrub, N; Flanagin, A; Breedlove, C; Young, RK; Jefferson, TC; Silberg, WM; Goldsmith, M; Iverson, C; Williams, E; Albert, DM; Arndt, KA; Barchas, JD; Bowman, MA; Dalen, JE; DeAngelis, CD; Johns, ME; Larrabee, WF; Organ, CH; Rosenberg, RN; Banta, HD; Berger, M; Blendon, RJ; Chalmers, I; DeBakey, L; Evens, RG; Johnston, CI; Lindberg, DAB; Maisonneuve, H; Naylor, CD; Pellegrino, ED; Pyeritz, RE; Reinhardt, UE; Riis, P; Roper, WL; Terada, M
      JAMA and editorial independence (Reprinted from JAMA, vol 281, pg 460, 1999)

      ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
    17. Grody, WW; Pyeritz, RE
      Report card on molecular genetic testing - Room for improvement?

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    18. Glass, RM; Fontanarosa, PB; Rennie, D; Winker, MA; Southgate, MT; Clayman, CB; Cole, HM; Cole, TB; Cooper, DS; Mark, DH; Meyer, HS; Olson, CM; Siegel, RH; Smith, JM; Zylke, JW; Clark, RA; Cook, DJ; Vaisrub, N; Flanagin, A; Breedlove, C; Young, RK; Jefferson, TC; Silberg, WM; Goldsmith, M; Iverson, C; Williams, E; Banta, HD; Berger, M; Blendon, RJ; Chalmers, I; DeBakey, L; Evens, RG; Johnston, CI; Lindberg, DAB; Maisonneuve, H; Naylor, CD; Pellegrino, ED; Pyeritz, RE; Reinhardt, UE; Riis, P; Roper, WL; Terada, M
      JAMA and editorial independence

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    19. Gott, VL; Greene, PS; Alejo, DE; Cameron, DE; Naftel, DC; Miller, DC; Gillinov, AM; Laschinger, JC; Pyeritz, RE
      Replacement of the aortic root in patients with Marfan's syndrome

      NEW ENGLAND JOURNAL OF MEDICINE
    20. von Kodolitsch, Y; Pyeritz, RE; Rogan, PK
      Splice-site mutations in atherosclerosis candidate genes - Relating individual information to phenotype

      CIRCULATION
    21. Glass, RM; Fontanarosa, PB; Rennie, D; Winker, MA; Southgate, MT; Clayman, CB; Cole, HM; Cole, TB; Cooper, DS; Mark, DH; Meyer, HS; Olson, CM; Siegel, RH; Smith, JM; Zylke, JW; Clark, RA; Cook, DJ; Vaisrub, N; Flanagin, A; Breedlove, C; Young, RK; Jefferson, TC; Silberg, WM; Goldsmith, M; Iverson, C; Williams, E; Banta, HD; Berger, M; Blendon, RJ; Chalmers, I; DeBakey, L; Evens, RG; Johnston, CI; Lindberg, DAB; Maisonneuve, H; Naylor, CD; Pellegrino, ED; Pyeritz, RE; Reinhardt, UE; Riis, P; Roper, WL; Terada, M
      JAMA and editorial independence

      ARCHIVES OF OPHTHALMOLOGY
    22. Glass, RM; Fontanarosa, PB; Rennie, D; Winker, MA; Southgate, MT; Clayman, CB; Cole, HM; Cole, TB; Cooper, DS; Mark, DH; Meyer, HS; Olson, CM; Siegel, RH; Smith, JM; Zylke, JW; Clark, RA; Cook, DJ; Vaisrub, N; Flanagin, A; Breedlove, C; Young, RK; Jefferson, TC; Silberg, WM; Goldsmith, M; Iverson, C; Williams, E; Albert, DM; Arndt, KA; Barchas, JD; Bowman, MA; Dalen, JE; DeAngelis, CD; Johns, ME; Larrabee, WF; Organ, CH; Rosenberg, RN; Banta, HD; Berger, M; Blendon, RJ; Chalmers, I; DeBakey, L; Evens, RG; Johnston, CI; Lindberg, DAB; Maisonneuve, H; Naylor, CD; Pellegrino, ED; Pyeritz, RE; Reinhardt, UE; Riis, P; Roper, WL; Terada, M
      JAMA and editorial independence (Reprinted from JAMA, vol 281, pg 460, 1999)

      ARCHIVES OF INTERNAL MEDICINE
    23. Glass, RM; Fontanarosa, PB; Rennie, D; Winker, MA; Southgate, MT; Clayman, CB; Cole, HM; Cole, TB; Cooper, DS; Mark, DH; Meyer, HS; Olson, CM; Siegel, RH; Smith, JM; Zylke, JW; Clark, RA; Cook, DJ; Vaisrub, N; Flanagin, A; Breedlove, C; Young, RK; Jefferson, TC; Silberg, WM; Goldsmith, M; Iverson, C; Williams, E; Albert, DM; Arndt, KA; Barchas, JD; Bowman, MA; Dalen, JE; DeAngelis, CD; Johns, ME; Larrabee, WF; Organ, CH; Rosenberg, RN; Banta, HD; Berger, M; Blendon, RJ; Chalmers, I; DeBakey, L; Evens, RG; Johnston, CI; Lindberg, DAB; Maisonneuve, H; Naylor, CD; Pellegrino, ED; Pyeritz, RE; Reinhardt, UW; Riis, P; Roper, WL; Terada, M
      JAMA and editorial independence (Reprinted from JAMA, vol 281, pg 460, 1999)

      ARCHIVES OF DERMATOLOGY
    24. Pyeritz, RE
      Conception, gestation, and birth of a journal: the future of genetics in medicine includes Genetics in Medicine

      GENETICS IN MEDICINE
    25. Pyeritz, RE
      Medical genetics: end of the beginning or beginning of the end?

      GENETICS IN MEDICINE
    26. ROGERS WJ; HU YL; COAST DA; PYERITZ RE; KRAMER CM; REICHEK N
      QUANTIFICATION OF REGIONAL PULSE-WAVE VELOCITY IN THE MARFAN AORTA USING MAGNETIC-RESONANCE-IMAGING

      Journal of the American College of Cardiology
    27. PYERITZ RE
      SEX - WHAT WE MAKE OF IT

      JAMA, the journal of the American Medical Association
    28. HOLMES LB; PYERITZ RE
      SCREENING FOR CYSTIC-FIBROSIS

      JAMA, the journal of the American Medical Association
    29. MARON BJ; MOLLER JH; SEIDMAN CE; VINCENT GM; DIETZ HC; MOSS AJ; TOWBIN JA; SONDHEIMER HM; PYERITZ RE; MCGEE G; EPSTEIN AE
      IMPACT OF LABORATORY MOLECULAR DIAGNOSIS ON CONTEMPORARY DIAGNOSTIC-CRITERIA FOR GENETICALLY TRANSMITTED CARDIOVASCULAR-DISEASES - HYPERTROPHIC CARDIOMYOPATHY, LONG-QT SYNDROME, AND MARFAN-SYNDROME - A STATEMENT FOR HEALTH-CARE PROFESSIONALS FROM THE COUNCILS ON CLINICAL CARDIOLOGY, CARDIOVASCULAR-DISEASE IN THE YOUNG, AND BASIC SCIENCE, AMERICAN-HEART-ASSOCIATION

      Circulation
    30. HOBBS WR; SPONSELLER PD; WEISS APC; PYERITZ RE
      THE CERVICAL-SPINE IN MARFAN-SYNDROME

      Spine (Philadelphia, Pa. 1976)
    31. SPONSELLER PD; SETHI N; CAMERON DE; PYERITZ RE
      INFANTILE SCOLIOSIS IN MARFAN-SYNDROME

      Spine (Philadelphia, Pa. 1976)
    32. PYERITZ RE
      FAMILY HISTORY AND GENETIC RISK-FACTORS - FORWARD TO THE FUTURE

      JAMA, the journal of the American Medical Association
    33. GUTMANN DH; AYLSWORTH A; CAREY JC; KORF B; MARKS J; PYERITZ RE; RUBENSTEIN A; VISKOCHIL D
      THE DIAGNOSTIC EVALUATION AND MULTIDISCIPLINARY MANAGEMENT OF NEUROFIBROMATOSIS-1 AND NEUROFIBROMATOSIS-2

      JAMA, the journal of the American Medical Association
    34. PYERITZ RE
      GENETIC-HETEROGENEITY IN WILSON DISEASE - LESSONS FROM RARE ALLELES

      Annals of internal medicine
    35. SELL S; THULL DL; KALLENBORN MM; PYERITZ RE
      ASSESSMENT OF POTENTIAL GENETIC RISK-FACTORS FOR OCCLUSIVE ARTERIAL-DISEASE - YOUNG VS. OLD PATIENTS

      American journal of human genetics
    36. YUAN B; THULL DL; THOMAS JP; PYERITZ RE
      CHARACTERIZATION OF 4 NOVEL FIBRILLIN-1 (FBN1) MUTATIONS IN MARFAN-SYNDROME AND RELATED DISORDERS

      American journal of human genetics
    37. MCINTOSH L; CLOUGH MV; SCHAFFER AA; PUFFENBERGER EG; HORTON VK; PETERS K; ABBOTT MH; ROIG CM; CUTONE S; OZELIUS L; KWIATKOWSKI DJ; PYERITZ RE; BROWN LJ; PAULI RM; MCCORMICK MK; FRANCOMANO CA
      FINE MAPPING OF THE NAIL-PATELLA SYNDROME LOCUS AT 9Q34

      American journal of human genetics
    38. PYERITZ RE
      THE MARFAN-SYNDROME IN CHILDHOOD - FEATURES, NATURAL-HISTORY AND DIFFERENTIAL-DIAGNOSIS

      Progress in pediatric cardiology
    39. SUGARMAN J; TERRY P; FADEN RR; HOLMES DE; FOGARTY L; PYERITZ RE
      PROFESSIONAL HEALTH-CARE WORKERS ATTITUDES TOWARD TREATING PATIENTS WITH MULTIDRUG-RESISTANT TUBERCULOSIS

      The Journal of clinical ethics
    40. 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
    41. POLYMEROPOULOS MH; IDE SE; WRIGHT M; GOODSHIP J; WEISSENBACH J; PYERITZ RE; DASILVA EO; DELUNA RIO; FRANCOMANO CA
      THE GENE FOR THE ELLIS-VANCREVELD-SYNDROME IS LOCATED ON CHROMOSOME-4P16

      Genomics
    42. DEPAEPE A; DEVEREUX RB; DIETZ HC; HENNEKAM RCM; PYERITZ RE
      REVISED DIAGNOSTIC-CRITERIA FOR THE MARFAN-SYNDROME

      American journal of medical genetics
    43. DESPOSITO F; CHO S; FRIAS JL; SHERMAN J; WAPPNER RS; WILSON MG; DELACRUZ F; HANSON JW; LINFU J; MCDONOUGH PG; PLETCHER BA; PYERITZ RE; SEASHORE MR
      HEALTH SUPERVISION FOR CHILDREN WITH MARFAN-SYNDROME

      Pediatrics
    44. LI X; PARK WJ; PYERITZ RE; JABS EW
      EFFECT ON SPLICING OF A SILENT FGFR2 MUTATION IN CROUZON SYNDROME

      Nature genetics
    45. DIETZ HC; PYERITZ RE
      MUTATIONS IN THE HUMAN GENE FOR FIBRILLIN-1 (FBN1) IN THE MARFAN-SYNDROME AND RELATED DISORDERS

      Human molecular genetics
    46. GRAHAME R; PYERITZ RE
      THE MARFAN-SYNDROME - JOINT AND SKIN MANIFESTATIONS ARE PREVALENT ANDCORRELATED

      British journal of rheumatology
    47. PANDYA A; BRAVERMAN N; PYERITZ RE; YING KL; KLINE AD; FALK RE
      INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-6 ASSOCIATED WITHUNUSUAL LIMB ANOMALIES - REPORT OF 2 NEW PATIENTS AND REVIEW OF THE LITERATURE

      American journal of medical genetics
    48. 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
    49. SPONSELLER PD; HOBBS W; RILEY LH; PYERITZ RE
      THE THORACOLUMBAR SPINE IN MARFAN-SYNDROME

      Journal of bone and joint surgery. American volume
    50. WHEATLEY HM; TRABOULSI EI; FLOWERS BE; MAUMENEE IH; AZAR D; PYERITZ RE; WHITTUMHUDSON JA
      IMMUNOHISTOCHEMICAL LOCALIZATION OF FIBRILLIN IN HUMAN OCULAR-TISSUES- RELEVANCE TO THE MARFAN-SYNDROME

      Archives of ophthalmology
    51. ROSSITER JP; REPKE JT; MORALES AJ; MURPHY EA; PYERITZ RE
      A PROSPECTIVE LONGITUDINAL EVALUATION OF PREGNANCY IN THE MARFAN-SYNDROME

      American journal of obstetrics and gynecology
    52. FRANCOMANO CA; DELUNA RIO; IDE SE; PYERITZ RE; WRIGHT M; POLYMEROPOULOS MH
      THE GENE FOR THE ELLIS VAN CREVELD SYNDROME MAPS TO CHROMOSOME 4P16

      American journal of human genetics
    53. NIJBROEK G; SOOD S; MCINTOSH I; FRANCOMANO CA; BULL E; PEREIRA L; RAMIREZ F; PYERITZ RE; DIETZ HC
      15 NOVEL FBN1 MUTATIONS CAUSING MARFAN-SYNDROME DETECTED BY HETERODUPLEX ANALYSIS OF GENOMIC AMPLICONS

      American journal of human genetics
    54. PIERSALL LD; DIETZ HC; HALL BD; CADLE RG; PYERITZ RE; FRANCOMANO CA; MCINTOSH I
      SUBSTITUTION OF A CYSTEINE RESIDUE IN A NON-CALCIUM BINDING, EGF-LIKEDOMAIN OF FIBRILLIN SEGREGATES WITH THE MARFAN-SYNDROME IN A LARGE KINDRED

      Human molecular genetics
    55. LI XA; LEWANDA AF; ELUMA F; JERALD H; CHOI H; ALOZIE I; PROUKAKIS C; TALBOT CC; VANDERKOLK C; BIRD LM; JONES MC; CUNNINGHAM M; CLARREN SK; PYERITZ RE; WEISSENBACH J; JACKSON CE; JABS EW
      2 CRANIOSYNOSTOTIC SYNDROME LOCI, CROUZON AND JACKSON-WEISS, MAP TO CHROMOSOME-10Q23-Q26

      Genomics
    56. 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
    57. GOTT VL; CAMERON DE; REITZ BA; PYERITZ RE
      CURRENT DIAGNOSIS AND PRESCRIPTION FOR THE MARFAN-SYNDROME - AORTIC ROOT AND VALVE-REPLACEMENT

      Journal of cardiac surgery
    58. DIETZ HC; PYERITZ RE
      MOLECULAR-GENETIC APPROACHES TO THE STUDY OF HUMAN CARDIOVASCULAR-DISEASE

      Annual review of physiology
    59. PEREIRA L; LEVRAN O; RAMIREZ F; LYNCH JR; SYKES B; PYERITZ RE; DIETZ HC
      A MOLECULAR APPROACH TO THE STRATIFICATION OF CARDIOVASCULAR RISK IN FAMILIES WITH MARFANS-SYNDROME

      The New England journal of medicine
    60. SHORES J; BERGER KR; MURPHY EA; PYERITZ RE
      PROGRESSION OF AORTIC DILATATION AND THE BENEFIT OF LONG-TERM BETA-ADRENERGIC-BLOCKADE IN MARFANS-SYNDROME

      The New England journal of medicine
    61. DIETZ HC; PYERITZ RE
      MOLECULAR-BIOLOGY - TO THE HEART OF THE MATTER

      The New England journal of medicine
    62. GILLINOV AM; HULYALKAR A; CAMERON DE; CHO PW; GREENE PS; REITZ BA; PYERITZ RE; GOTT VL
      MITRAL-VALVE OPERATION IN PATIENTS WITH THE MARFAN-SYNDROME

      Journal of thoracic and cardiovascular surgery
    63. STONE CD; GOTT VL; REITZ BA; GREENE PS; PYERITZ RE
      AORTIC DISSECTION (AD) IN THE MARFAN-SYNDROME (MS) - FREQUENCY, CLINICAL HISTORY AND MANAGEMENT IN PATIENTS WITH COMPOSITE GRAFT REPAIR (CGR)

      Circulation
    64. STONE CD; GOTT VL; REITZ BA; GREENE PS; PYERITZ RE
      AORTIC DISSECTION (AD) IN THE MARFAN-SYNDROME (MS) - FREQUENCY, CLINICAL HISTORY AND MANAGEMENT IN PATIENTS WITH COMPOSITE GRAFT REPAIR (CGR)

      Circulation
    65. SALIM MA; ALPERT BS; WARD JC; PYERITZ RE
      EFFECT OF BETA-ADRENERGIC - BLOCKADE ON AORTIC ROOT RATE OF DILATION IN THE MARFAN-SYNDROME

      The American journal of cardiology
    66. DIETZ HC; MCINTOSH I; SAKAI LY; CORSON GM; CHALBERG SC; PYERITZ RE; FRANCOMANO CA
      4 NOVEL FBN1 MUTATIONS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL ANDEGF-LIKE DOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME

      Genomics
    67. PYERITZ RE; FRANCKE U
      CONFERENCE REPORT THE 2ND INTERNATIONAL-SYMPOSIUM ON THE MARFAN-SYNDROME

      American journal of medical genetics
    68. ROSSITER JP; MORALES A; REPKE JT; PYERITZ RE
      PROSPECTIVE LONGITUDINAL EVALUATION OF PREGNANCY IN THE MARFAN-SYNDROME

      American journal of human genetics
    69. BRAVERMAN N; KLINE A; PYERITZ RE
      INTERSTITIAL DELETION OF 6Q ASSOCIATED WITH ECTRODACTYLY

      American journal of human genetics
    70. ELDADAH ZA; MCINTOSH I; PYERITZ RE; FRANCOMANO CA; DIETZ HC
      4 NOVEL FBN1 MUTATIONS IMPLICATE MUTANT TRANSCRIPT LEVEL AND EGF-LIKEDOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME

      American journal of human genetics


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Documento generato il 25/10/20 alle ore 05:25:29