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    1. Guo, D; Tan, FK; Cantu, A; Plon, SE; Milewicz, DM
      FBN1 exon 2 splicing error in a patient with Marfan syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    2. Ruan, BF; Wilson, WK; Pang, JH; Gerst, N; Pinkerton, FD; Tsai, J; Kelley, RI; Whitby, FG; Milewicz, DM; Garbern, J; Schroepfer, GJ
      Sterols in blood of normal and Smith-Lemli-Opitz subjects

      JOURNAL OF LIPID RESEARCH
    3. Zhou, XD; Tan, FK; Xiong, MM; Milewicz, DM; Feghali, CA; Fritzler, MJ; Reveille, JD; Arnett, FC
      Systemic sclerosis (scleroderma): Specific autoantigen genes are selectively overexpressed in scleroderma fibroblasts

      JOURNAL OF IMMUNOLOGY
    4. Guo, DC; Hasham, S; Kuang, SQ; Vaughan, CJ; Boerwinkle, E; Chen, H; Abuelo, D; Dietz, HC; Basson, CT; Shete, SS; Milewicz, DM
      Familial thoracic aortic aneurysms and dissections - Genetic heterogeneitywith a major locus mapping to 5q13-14

      CIRCULATION
    5. Vaughan, CJ; Casey, M; He, J; Veugelers, M; Henderson, K; Guo, DC; Campagna, R; Roman, MJ; Milewicz, DM; Devereux, RB; Basson, CT
      Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder

      CIRCULATION
    6. Kuang, SQ; Hasham, S; Phillips, MD; Wolf, D; Wan, Y; Thiagarajan, P; Milewicz, DM
      Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas

      BLOOD
    7. Wallis, DD; Tan, FK; Kielty, CM; Kimball, MD; Arnett, FC; Milewicz, DM
      Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma)

      ARTHRITIS AND RHEUMATISM
    8. Tan, FK; Wang, N; Kuwana, M; Chakraborty, R; Bona, CA; Milewicz, DM; Arnett, FC
      Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations

      ARTHRITIS AND RHEUMATISM
    9. Guala, A; Danesino, C; Milewicz, DM; Putnam, EA; Franceschini, F
      The metacarpophalangeal profile in a family with congenital contractural arachnodactyly

      GENETIC COUNSELING
    10. Milewicz, DM; Urban, Z; Boyd, C
      Genetic disorders of the elastic fiber system

      MATRIX BIOLOGY
    11. Milewicz, DM; Seidman, CE
      Genetics of cardiovascular disease

      CIRCULATION
    12. Ades, LC; Davies, R; Haan, EA; Holman, KJ; Watson, KC; Sreetharan, D; Cao, SN; Milewicz, DM; Bateman, JF; Chiodo, AA; Eccles, M; McNoe, L; Harbord, M
      Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

      CLINICAL DYSMORPHOLOGY
    13. Raghunath, M; Putnam, EA; Ritty, T; Hamstra, D; Park, ES; Tschodrich-Rotter, M; Peters, R; Rehemtulla, A; Milewicz, DM
      Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix

      JOURNAL OF CELL SCIENCE
    14. Ritty, TM; Broekelmann, T; Tisdale, C; Milewicz, DM; Mecham, RP
      Processing of the fibrillin-1 carboxyl-terminal domain

      JOURNAL OF BIOLOGICAL CHEMISTRY
    15. Milewicz, DM
      Inherited disorders of the aorta

      DIAGNOSIS AND TREATMENT OF AORTIC DISEASES
    16. MILEWICZ DM
      MOLECULAR-GENETICS OF MARFAN-SYNDROME AND EHLERS-DANLOS TYPE-IV

      Current opinion in cardiology
    17. PARK ES; PUTNAM EA; CHITAYAT D; CHILD A; MILEWICZ DM
      CLUSTERING OF FBN2 MUTATIONS IN PATIENTS WITH CONGENITAL CONTRACTURALARACHNODACTYLY INDICATES AN IMPORTANT ROLE OF THE DOMAINS ENCODED BY EXONS 24 THROUGH 34 DURING HUMAN-DEVELOPMENT

      American journal of medical genetics
    18. GREALLY MT; CAREY JC; MILEWICZ DM; HUDGINS L; GOLDBERG RB; SHPRINTZEN RJ; COUSINEAU AJ; SMITH WL; JUDISCH GF; HANSON JW
      SHPRINTZEN-GOLDBERG-SYNDROME - A CLINICAL ANALYSIS

      American journal of medical genetics
    19. Prahlow, JA; Barnard, JJ; Milewicz, DM
      Familial thoracic aortic aneurysms and dissections

      JOURNAL OF FORENSIC SCIENCES
    20. TAN FK; STIVERS DN; FOSTER MW; CHAKRABORTY R; HOWARD RF; MILEWICZ DM; ARNETT FC
      ASSOCIATION OF MICROSATELLITE MARKERS NEAR THE FIBRILLIN-1 GENE ON HUMAN-CHROMOSOME 15Q WITH SCLERODERMA IN A NATIVE-AMERICAN POPULATION

      Arthritis and rheumatism
    21. MILEWICZ DM; CHEN H; PARK ES; PETTY EM; ZAGHI H; PAI S; WILLING M; PATEL V
      REDUCED PENETRANCE AND VARIABLE EXPRESSIVITY OF FAMILIAL THORACIC AORTIC ANEURYSMS DISSECTIONS/

      The American journal of cardiology
    22. BIDDINGER A; ROCKLIN M; COSELLI J; MILEWICZ DM
      FAMILIAL THORACIC AORTIC DILATATIONS AND DISSECTIONS - A CASE-CONTROLSTUDY

      Journal of vascular surgery
    23. LEUNG KL; MILEWICZ DM; PHILLIPS MD; BARASCH E
      NONBACTERIAL THROMBOTIC ENDOCARDITIS IN 3 MEMBERS OF A FAMILY

      The New England journal of medicine
    24. PHILLIPS MD; WOLF D; HANAFY K; CHEN H; MCGARRY WT; THIAGARAJAN P; MILEWICZ DM
      NOVEL AUTOSOMAL-DOMINANT BLEEDING DISORDER LINKED TO THE ANTITHROMBIN-III GENE

      Blood
    25. TAN FK; STIVERS DN; FOSTER MW; CHAKRABORTY R; HOWARD RF; MILEWICZ DM; ARNETT FC
      MICROSATELLITE MARKERS FLANKING THE FIBRILLIN-1 GENE ON HUMAN-CHROMOSOME 15Q ARE ASSOCIATED WITH SCLERODERMA IN A NATIVE-AMERICAN POPULATION

      Arthritis and rheumatism
    26. MILEWICZ DM; WOLF D; HANAFY K; CHEN H; MCGARRY WT; THIAGARAJAN P; PHILLIPS MD
      NOVEL AUTOSOMAL-DOMINANT BLEEDING DISORDER LINKED TO THE ANTITHROMBIN-III GENE

      American journal of human genetics
    27. CHEN H; PETTY E; WILLING M; PATEL V; MILEWICZ DM
      CLINICAL-FEATURES AND GENETIC-HETEROGENEITY OF FAMILIAL THORACIC AORTIC ANEURYSMS DISSECTIONS/

      American journal of human genetics
    28. TAN FK; STIVERS DN; FOSTER MW; CHAKRABORTY R; HOWARD RF; MILEWICZ DM; AMETT FC
      MICROSATELLITE MARKERS NEAR THE FIBRILLIN-1 GENE ON HUMAN-CHROMOSOME 15Q ARE ASSOCIATED WITH SCLERODERMA IN A NATIVE-AMERICAN POPULATION

      American journal of human genetics
    29. PUTNAM EA; PARK ES; CHILD A; CHITAYAT D; MILEWICZ DM
      CLUSTERING OF FBN2 MUTATIONS IN PATIENTS WITH CONGENITAL CONTRACTURALARACHNODACTYLY (CCA)

      American journal of human genetics
    30. PUTNAM EA; PARK ES; AALFS CM; HENNEKAM RCM; MILEWICZ DM
      PARENTAL SOMATIC AND GERM-LINE MOSAICISM FOR A FBN2 MUTATION AND ANALYSIS OF FBN2 TRANSCRIPT LEVELS IN DERMAL FIBROBLASTS

      American journal of human genetics
    31. MILLER NH; MIMS B; CHILD A; MILEWICZ DM; SPONSELLER P; BLANTON SH
      GENETIC-ANALYSIS OF STRUCTURAL ELASTIC FIBER AND COLLAGEN GENES IN FAMILIAL ADOLESCENT IDIOPATHIC SCOLIOSIS

      Journal of orthopaedic research
    32. ADES LC; KNIGHT WB; BYARD RW; BATEMAN JF; ESQUIVEL JAD; MEE RBB; HAAN EA; MILEWICZ DM
      CLINICOPATHOLOGICAL FINDINGS IN CONGENITAL ANEURYSMS OF THE GREAT-VESSELS

      American journal of medical genetics
    33. PUTNAM EA; CHO M; ZINN AB; TOWBIN JA; BYERS PH; MILEWICZ DM
      DELINEATION OF THE MARFAN PHENOTYPE ASSOCIATED WITH MUTATIONS IN EXONS 23-32 OF THE FBN1 GENE

      American journal of medical genetics
    34. MILEWICZ DM; BYERS PH; REVEILLE J; HUGHES AL; DUVIC M
      A DIMORPHIC ALU SB-LIKE INSERTION IN COL3A1 IS ETHNIC-SPECIFIC

      Journal of molecular evolution
    35. MILEWICZ DM; MICHAEL K; FISHER N; COSELLI JS; MARKELLO T; BIDDINGER A
      FIBRILLIN-1 (FBN1) MUTATIONS IN PATIENTS WITH THORACIC AORTIC-ANEURYSMS

      Circulation
    36. PUTNAM EA; ZHANG H; RAMIREZ F; MILEWICZ DM
      FIBRILLIN-2 (FBN2) MUTATIONS RESULT IN THE MARFAN-LIKE DISORDER, CONGENITAL CONTRACTURAL ARACHNODACTYLY

      Nature genetics
    37. ADES LC; MORRIS LL; POWER RC; WILSON M; HAAN EA; BATEMAN JF; MILEWICZ DM; SILLENCE DO
      DISTINCT SKELETAL ABNORMALITIES IN 4 GIRLS WITH SHPRINTZEN-GOLDBERG SYNDROME

      American journal of medical genetics
    38. MILEWICZ DM; GROSSFIELD J; CAO SN; KIELTY C; COVITZ W; JEWETT T
      A MUTATION IN FBN1 DISRUPTS PROFIBRILLIN PROCESSING AND RESULTS IN ISOLATED SKELETAL FEATURES OF THE MARFAN-SYNDROME

      The Journal of clinical investigation
    39. MILEWICZ DM
      ULTRASONIC CHARACTERIZATION OF THE AORTIC ARCHITECTURE IN MARFAN PATIENTS

      Circulation
    40. FINKBOHNER R; JOHNSTON D; CRAWFORD ES; COSELLI J; MILEWICZ DM
      MARFAN-SYNDROME - LONG-TERM SURVIVAL AND COMPLICATIONS AFTER AORTIC-ANEURYSM REPAIR

      Circulation
    41. MILEWICZ DM; CHO M; ZINN AB; TOWBIN JA; BYERS PH; PUTNAM EA
      DELINEATION OF THE MARFAN PHENOTYPE ASSOCIATED WITH MUTATIONS IN EXONS 23 THROUGH 32 OF THE FBN1 GENE

      American journal of human genetics
    42. BIDDINGER A; ROCKLIN M; COSELLI J; MILEWICZ DM
      FAMILIAL THORACIC AORTIC-ANEURYSMS - A CASE-CONTROL STUDY

      American journal of human genetics
    43. PUTNAM EA; MILEWICZ DM
      A MUTATION IN THE FBN2 GENE IN DERMAL FIBROBLASTS FROM A CONGENITAL CONTRACTURAL ARACHNODACTYLY PATIENT

      American journal of human genetics
    44. MILEWICZ DM
      IDENTIFICATION OF DEFECTS IN THE FIBRILLIN GENE AND PROTEIN - IN INDIVIDUALS WITH THE MARFAN-SYNDROME AND RELATED DISORDERS

      Texas Heart Institute journal
    45. HADLEYMILLER N; MIMS B; MILEWICZ DM
      THE POTENTIAL ROLE OF THE ELASTIC FIBER SYSTEM IN ADOLESCENT IDIOPATHIC SCOLIOSIS

      Journal of bone and joint surgery. American volume
    46. MILEWICZ DM; DUVIC M
      SEVERE NEONATAL MARFAN-SYNDROME RESULTING FROM A DE-NOVO 3-BP INSERTION INTO THE FIBRILLIN GENE ON CHROMOSOME-15

      American journal of human genetics
    47. BIDDINGER AL; HECHT JT; MILEWICZ DM
      REPEAT POLYMORPHISMS IN HUMAN FIBRILLIN GENES ON CHROMOSOME-15 (FBN1)AND CHROMOSOME-5 (FBN2)

      Human molecular genetics
    48. FINKBOHNER RL; JOHNSTON D; CRAWFORD ES; COSELLI JS; MILEWICZ DM
      THE MARFAN-SYNDROME - LONG-TERM FOLLOW-UP OF PATIENTS AFTER AORTIC-ANEURYSM REPAIR

      American journal of human genetics
    49. GROSSFIELD J; CAO S; MILEWICZ DM
      MUTATIONS IN THE CARBOXY-TERMINUS OF FBN1 SUGGEST A POTENTIAL GENOTYPE-PHENOTYPE CORRELATION IN THE MARFAN-SYNDROME

      American journal of human genetics
    50. MILEWICZ DM; WITZ AM; SMITH ACM; MANCHESTER DK; WALDSTEIN G; BYERS PH
      PARENTAL SOMATIC AND GERM-LINE MOSAICISM FOR A MULTIEXON DELETION WITH UNUSUAL END-POINTS IN A TYPE-III COLLAGEN (COL3A1) ALLELE PRODUCES EHLERS-DANLOS SYNDROME TYPE-IV IN THE HETEROZYGOUS OFFSPRING

      American journal of human genetics


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Documento generato il 28/10/20 alle ore 22:05:18