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    1. Pras, E; Pras, E; Bakhan, T; Levy-Nissenbaum, E; Lahat, H; Assia, EI; Garzozi, HJ; Kastner, DL; Goldman, B; Frydman, M
      A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    2. Kastner, DL; O'Shea, JJ
      A fever gene comes in from the cold

      NATURE GENETICS
    3. Livneh, A; Aksentijevich, I; Langevitz, P; Torosyna, Y; G-Shoham, N; Shinar, Y; Pras, E; Zaks, N; Padeh, S; Kastner, DL; Pras, M
      A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Aganna, E; Aksentijevich, I; Hitman, GA; Kastner, DL; Hoepelman, AIM; Posma, FD; Zweers, EJK; McDermott, MF
      Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance

      EUROPEAN JOURNAL OF HUMAN GENETICS
    5. Pras, E; Aksentijevich, I; Shinar, Y; Kastner, DL; Achiron, A
      Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews

      EUROPEAN NEUROLOGY
    6. Lahat, H; Eldar, M; Levy-Nissenbaum, E; Bahan, T; Friedman, E; Khoury, A; Lorber, A; Kastner, DL; Goldman, B; Pras, E
      Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia - Clinical features and assignment of the disease gene to chromosome 1p13-21

      CIRCULATION
    7. Mansfield, E; Chae, JJ; Komarow, HD; Brotz, TM; Frucht, DM; Aksentijevich, I; Kastner, DL
      The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments

      BLOOD
    8. Aksentijevich, I; Galon, J; Soares, M; Mansfield, E; Hull, K; Oh, HH; Goldbach-Mansky, R; Dean, J; Athreya, B; Reginato, AJ; Henrickson, M; Pons-Estel, B; O'Shea, JJ; Kastner, DL
      The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. Jawaheer, D; Seldin, MF; Amos, CI; Chen, WV; Shigeta, R; Monteiro, J; Kern, M; Criswell, LA; Albani, S; Nelson, JL; Clegg, DO; Pope, R; Schroeder, HW; Bridges, SL; Pisetsky, DS; Ward, R; Kastner, DL; Wilder, RL; Pincus, T; Callahan, LF; Flemming, D; Wener, MH; Gregersen, PK
      A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Galon, J; Aksentijevich, I; McDermott, MF; O'Shea, JJ; Kastner, DL
      TNFRSF1A mutations and autoinflammatory syndromes

      CURRENT OPINION IN IMMUNOLOGY
    11. Chae, JJ; Centola, M; Aksentijevich, I; Dutra, A; Tran, M; Wood, G; Nagaraju, K; Kingma, DW; Liu, PP; Kastner, DL
      Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever

      MAMMALIAN GENOME
    12. Shinar, Y; Livneh, A; Langevitz, P; Zaks, N; Aksentijevich, I; Koziol, DE; Kastner, DL; Pras, M; Pras, E
      Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

      JOURNAL OF RHEUMATOLOGY
    13. Hooper, JD; Bowen, N; Marshall, H; Cullen, LM; Sood, R; Daniels, R; Stuttgen, MA; Normyle, JF; Higgs, DR; Kastner, DL; Ogbourne, SM; Pera, MF; Jazwinska, EC; Antalis, TM
      Localization, expression and genomic structure of the gene encoding the human serine protease testisin

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    14. Centola, M; Wood, G; Frucht, DM; Galon, J; Aringer, M; Farrell, C; Kingma, DW; Horwitz, ME; Mansfield, E; Holland, SM; O'Shea, JJ; Rosenberg, HF; Malech, HL; Kastner, DL
      The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators

      BLOOD
    15. Toro, JR; Aksentijevich, I; Hull, K; Dean, J; Kastner, DL
      Tumor necrosis factor receptor-associated periodic syndrome - A novel syndrome with cutaneous manifestations

      ARCHIVES OF DERMATOLOGY
    16. Livneh, A; Langevitz, P; Shinar, Y; Zaks, N; Kastner, DL; Pras, M; Pras, E
      MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    17. Lin, JP; Hirsch, R; Jacobsson, LTH; Scott, WW; Ma, LD; Pillemer, SR; Knowler, WC; Kastner, DL; Bale, SJ
      Genealogy construction in a historically isolated population: Application to genetic studies of rheumatoid arthritis in the Pima Indian

      GENETICS IN MEDICINE
    18. Feliubadalo, L; Font, M; Purroy, J; Rousaud, F; Estivill, X; Nunes, V; Golomb, E; Centola, M; Aksentijevich, I; Kreiss, Y; Goldman, B; Pras, M; Kastner, DL; Pras, E; Gasparini, P; Bisceglia, L; Beccia, E; Gallucci, M; de Sanctis, L; Ponzone, A; Rizzoni, GF; Zelante, L; Bassi, MT; George, AL; Manzoni, M; De Grandi, A; Riboni, M; Endsley, JK; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Estevez, R; Pineda, M; Torrents, D; Camps, M; Lloberas, J; Zorzano, A; Palacin, M
      Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT

      NATURE GENETICS
    19. Pras, E; Pras, E; Kreiss, Y; Frishberg, Y; Prosen, L; Aksentijevich, I; Kastner, DL
      Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1using historical recombinants in libyan Jewish cystinuria patients

      GENOMICS
    20. Chen, XG; Hamon, M; Deng, ZM; Centola, M; Sood, R; Taylor, K; Kastner, DL; Fischel-Ghodsian, N
      Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    21. McDermott, MF; Aksentijevich, I; Galon, J; McDermott, EM; Ogunkolade, BW; Centola, M; Mansfield, E; Gadina, M; Karenko, L; Pettersson, T; McCarthy, J; Frucht, DM; Aringer, M; Torosyan, Y; Teppo, AM; Wilson, M; Karaarslan, HM; Wan, Y; Todd, I; Wood, G; Schlimgen, R; Kumarajeewa, TR; Cooper, SM; Vella, JP; Amos, CI; Mulley, J; Quane, KA; Molloy, MG; Ranki, A; Powell, RJ; Hitman, GA; O'Shea, JJ; Kastner, DL
      Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes

      CELL
    22. Chae, JJ; Kim, SH; Kim, UK; Han, KH; Kim, HS; Kastner, DL; Namkoong, Y; Park, YB; Lee, CC
      Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia

      CLINICAL GENETICS
    23. Aksentijevich, I; Torosyan, Y; Samuels, J; Centola, M; Pras, E; Chae, JJ; Oddoux, C; Wood, G; Azzaro, MP; Palumbo, G; Giustolisi, R; Pras, M; Ostrer, H; Kastner, DL
      Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. KASTNER DL
      FAMILIAL MEDITERRANEAN FEVER - THE GENETICS OF INFLAMMATION

      Hospital practice
    25. Centola, M; Chen, XG; Sood, R; Deng, ZM; Aksentijevich, I; Blake, T; Ricke, DO; Chen, X; Wood, G; Zaks, N; Richards, N; Krizman, D; Mansfield, E; Apostolou, S; Liu, JM; Shafran, N; Vedula, A; Hamon, M; Cercek, A; Kahan, T; Gumucio, D; Callen, DF; Richards, RI; Moyzis, RK; Doggett, NA; Collins, FS; Liu, PP; Fischel-Ghodsian, N; Kastner, DL
      Construction of an similar to 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3

      GENOME RESEARCH
    26. PRAS E; GOLOMB E; DRAKE C; AKSENTIJEVICH I; KATZ G; KASTNER DL
      A SPLICING MUTATION (891-]G) IN SLC3A1 LEADS TO EXON-4 SKIPPING AND CAUSES CYSTINURIA IN A MOSLEM ARAB FAMILY(4A)

      Human mutation
    27. CENTOLA M; AKSENTIJEVICH I; KASTNER DL
      THE HEREDITARY PERIODIC FEVER SYNDROMES - MOLECULAR ANALYSIS OF A NEWFAMILY OF INFLAMMATORY DISEASES

      Human molecular genetics (Print)
    28. DENG ZM; CENTOLA M; CHEN XG; SOOD R; VEDULA A; FISCHELGHODSIAN N; KASTNER DL
      IDENTIFICATION OF 2 KRUPPEL-RELATED ZINC-FINGER GENES (ZNF200 AND ZNF210) FROM HUMAN-CHROMOSOME 16P13.3

      Genomics (San Diego, Calif.)
    29. PRAS E; KOCHBA I; LUBETZKY A; PRAS M; SIDI Y; KASTNER DL
      BIOCHEMICAL AND CLINICAL-STUDIES IN LIBYAN JEWISH CYSTINURIA PATIENTSAND THEIR RELATIVES

      American journal of medical genetics
    30. PRAS E; LIVNEH A; BALOW JE; PRAS E; KASTNER DL; PRAS M; LANGEVITZ P
      CLINICAL DIFFERENCES BETWEEN NORTH-AFRICAN AND IRAQI JEWS WITH FAMILIAL MEDITERRANEAN FEVER

      American journal of medical genetics
    31. SAMUELS J; AKSENTIJEVICH I; TOROSYAN Y; CENTOLA M; DENG ZM; SOOD R; KASTNER DL
      FAMILIAL MEDITERRANEAN FEVER AT THE MILLENNIUM - CLINICAL SPECTRUM, ANCIENT MUTATIONS, AND A SURVEY OF 100 AMERICAN - REFERRALS TO THE NATIONAL-INSTITUTES-OF-HEALTH

      Medicine
    32. LANGEVITZ P; LIVNEH A; SHINAR Y; SIDI G; KASTNER DL; PRAS M; PRAS E
      PROTRACTED FEBRILE MYALGIA (PFM) IN FAMILIAL MEDITERRANEAN FEVER (FMF) - MUTATION ANALYSIS IN FMF GENE (MEFV)

      Arthritis and rheumatism
    33. HIRSCH R; LIN JP; SCOTT WW; MA LD; PILLEMER SR; KASTNER DL; JACOBSSON LTH; BLOCH DA; KNOWLER WC; BENNETT PH; BALE SJ
      RHEUMATOID-ARTHRITIS IN THE PIMA-INDIANS - THE INTERSECTION OF EPIDEMIOLOGIC, DEMOGRAPHIC, AND GENEALOGIC DATA

      Arthritis and rheumatism
    34. EISENBERG S; AKSENTIJEVICH I; DENG ZM; KASTNER DL; MATZNER Y
      DIAGNOSIS OF FAMILIAL MEDITERRANEAN FEVER BY A MOLECULAR-GENETICS METHOD

      Annals of internal medicine
    35. BALOW JE; SHELTON DA; ORSBORN A; MANGELSDORF M; AKSENTIJEVICH I; BLAKE T; SOOD R; GARDNER D; LIU R; PRAS E; LEVY EN; CENTOLA M; DENG ZM; ZAKS N; WOOD G; CHEN XG; RICHARDS N; SHOHAT M; LIVNEH A; PRAS M; DOGGETT NA; COLLINS FS; LIU PP; ROTTER JI; FISCHELGHODSIAN N; GUMUCIO D; RICHARDS RI; KASTNER DL
      A HIGH-RESOLUTION GENETIC-MAP OF THE FAMILIAL MEDITERRANEAN FEVER CANDIDATE REGION ALLOWS IDENTIFICATION OF HAPLOTYPE-SHARING AMONG ETHNIC-GROUPS

      Genomics
    36. SOOD R; BLAKE T; AKSENTIJEVICH I; WOOD G; CHEN X; GARDNER D; SHELTON DA; MANGELSDORF M; ORSBORN A; PRAS E; BALOW JE; CENTOLA M; DENG ZM; ZAKS N; CHEN XG; RICHARDS N; FISCHELGHODSIAN N; ROTTER JI; PRAS M; SHOHAT M; DEAVEN LL; GUMUCIO DL; CALLEN DF; RICHARDS RI; COLLINS FS; LIU PP; KASTNER DL; DOGGETT NA
      CONSTRUCTION OF A 1-MB RESTRICTION-MAPPED COSMID CONTIG CONTAINING THE CANDIDATE REGION FOR THE FAMILIAL MEDITERRANEAN FEVER LOCUS (MEFV) ON CHROMOSOME 16P13.3

      Genomics
    37. LIVNEH A; DRENTH JPH; KLASEN IS; LANGEVITZ P; GEORGE J; SHELTON DA; GUMUCIO DL; PRAS E; KASTNER DL; PRAS M; VANDERMEER JWM
      FAMILIAL MEDITERRANEAN FEVER AND HYPERIMMUNOGLOBULINEMIA-D-SYNDROME -2 DISEASES WITH DISTINCT CLINICAL, SEROLOGIC, AND GENETIC FEATURES

      Journal of rheumatology
    38. AKSENTIJEVICH I; CENTOLA M; DENG ZM; SOOD R; BALOW JE; WOOD G; ZAKS N; MANSFIELD E; CHEN X; EISENBERG S; VEDULA A; SHAFRAN N; RABEN N; PRAS E; PRAS M; KASTNER DL; BLAKE T; BAXEVANIS AD; ROBBINS C; KRIZMAN D; COLLINS FS; LIU PP; CHEN XG; SHOHAT M; HAMON M; KAHAN T; CERCEK A; ROTTER JI; FISCHELGHODSIAN N; RICHARDS N; SHELTON DA; GUMUCIO D; YOKOYAMA Y; MANGELSDORF M; ORSBORN A; RICHARDS RI; RICKE DO; BUCKINGHAM JM; MOYZIS RK; DEAVEN LL; DOGGETT NA
      ANCIENT MISSENSE MUTATIONS IN A NEW MEMBER OF THE RORET GENE FAMILY ARE LIKELY TO CAUSE FAMILIAL MEDITERRANEAN FEVER

      Cell
    39. REGINATO AJ; EID H; SHANAHAN J; KASTNER DL; ANSENTIJEVICH I; BENSON MD; GALLO G
      FAMILIAL RECURRENT FEVER (FRF) AND LIVER AMYLOIDOSIS IN A PUERTO-RICAN (PR) KINDRED (K)

      Arthritis and rheumatism
    40. DENG Z; AKSENTIJEVICH I; BALOW JE; BLAKE T; CENTOLA M; CHEN X; COLLINS FS; DOGGETT N; FISCHELGHODSIAN N; GUMUCIO D; LIU P; PRAS E; PRAS M; RICHARDS N; RICHARDS RI; RICKE DO; ROTTER JI; SHOHAT M; SOOD R; WOOD G; YOKOYAMA Y; ZAKS N; KASTNER DL
      IDENTIFICATION OF FMF POSITIONAL CANDIDATE GENES WITHIN A 115-KB INTERVAL DEFINED BY HISTORICAL RECOMBINANTS

      American journal of human genetics
    41. PRAS E; AKSENTIJEVICH I; BALOW JE; PRAS M; KASTNER DL
      GENOTYPE ANALYSIS OF UNAFFECTED SIBS IN FAMILIES WITH FAMILIAL MEDITERRANEAN FEVER DOES NOT REVEAL EVIDENCE FOR HETEROZYGOTE ADVANTAGE

      American journal of human genetics
    42. WARTENFELD R; GOLOMB E; KATZ G; BALE SJ; GOLDMAN B; PRAS M; KASTNER DL; PRAS E
      MOLECULAR ANALYSIS OF CYSTINURIA IN LIBYAN JEWS - EXCLUSION OF THE SLC3A1 GENE AND MAPPING OF A NEW LOCUS ON 19Q

      American journal of human genetics
    43. MCDERMOTT MF; SCHMIDTWOLF G; SINHA AA; KOO M; PORTER MA; BRIANT L; CAMBONTHOMSEN A; MACLAREN NK; FISKE D; BERTERA S; TRUCCO M; AMOS CI; MCDEVITT HO; KASTNER DL
      NO LINKAGE OR ASSOCIATION OF TELOMERIC AND CENTROMERIC T-CELL RECEPTOR BETA-CHAIN MARKERS WITH SUSCEPTIBILITY TO TYPE-1 INSULIN-DEPENDENT DIABETES IN HLA-DR4 MULTIPLEX FAMILIES

      European journal of immunogenetics
    44. PRAS E; SOOD R; RABEN N; AKSENTIJEVICH I; CHEN XA; KASTNER DL
      GENOMIC ORGANIZATION OF SLC3A1, A TRANSPORTER GENE MUTATED IN CYSTINURIA

      Genomics
    45. STRATAKIS CA; PRAS E; LIN JP; KASTNER DL; CARNEY JA; CHROUSOS GP
      CARNEY COMPLEX, A MULTIPLE ENDOCRINE NEOPLASIA AND FAMILIAL LENTIGINOSIS SYNDROME, MAPS TO THE D2S123 LOCUS (CHROMOSOME 2P16)

      Cytogenetics and cell genetics
    46. SOOD R; AKSENTIJEVICH I; ALTHERR M; APOSTOLOU S; BALOW JE; BLAKE T; CALLEN DF; CENTOLA M; CHEN X; CHEN X; COLLINS FS; DOGGETT NA; FISCHELGHODSIAN N; GARDNER D; GUMUCIO D; KRIZMAN DB; KRUGLYAK L; LEVY E; LIU P; MARRONE BL; PRAS E; PRAS M; RICHARDS RI; ROTTER JI; SHELTON D; SHOHAT M; WOOD G; KASTNER DL
      HIGH-RESOLUTION PHYSICAL MAP OF THE REGION SPANNING THE MEF LOCUS AT 16P13

      Cytogenetics and cell genetics
    47. ALTHERR MR; AUERBACH AD; BIGGS PO; BURN TC; BREUNING MH; PETERS DJM; TASCHNER P; GILES R; VANDERREIJDEN B; CALLEN DF; CLETONJANSEN AM; DANIELS R; DOGGETT NA; DORIONBONNET F; DRIOUCH K; GIBSON R; INGVARSSON S; KASTNER DL; KWITEKBLACK AE; LANDEGENT JE; LODER B; MATTHIJS G; MOLE SE; OLSSON PG; PORTER CJ; PRONK JC; RICKE DO; SANDFORD R; SAVOIA A; SICILIANO MJ; SOOD R
      REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-16 MAPPING 1995 - HELD ON 12-14 NOVEMBER 1995 AT THE UNIVERSITY-OF-LEIDEN, THENETHERLANDS

      Cytogenetics and cell genetics
    48. STRATAKIS CA; AKSENTIJEVICH I; KASTNER DL; CARNEY JA; CHROUSOS GP
      CARNEY COMPLEX - CONFIRMATION OF THE CHROMOSOME 2P16 LOCUS, EXCLUSIONOF THE HMSH-2, HMSH-6, AND CALNB1 GENES AND CONSTRUCTION OF A GENETICAND PHYSICAL MAP OF THE REGION

      Pediatric research
    49. STRATAKIS CA; CARNEY JA; LIN JP; PAPANICOLAOU DA; KARL M; KASTNER DL; PRAS E; CHROUSOS GP
      CARNEY COMPLEX, A FAMILIAL MULTIPLE NEOPLASIA AND LENTIGINOSIS SYNDROME - ANALYSIS OF 11 KINDREDS AND LINKAGE TO THE SHORT ARM OF CHROMOSOME-2

      The Journal of clinical investigation
    50. LIVNEH A; DRENTH JPH; KLASEN IS; LANGEVITZ P; GEORGE J; KASTNER DL; PRAS M; VANDERMEER JWM
      FAMILIAL MEDITERRANEAN FEVER (FMF) AND HYPERIMMUNOGLOBULINEMIA-D SYNDROME (HIDS) ARE 2 DISEASES WITH DISTINCT FEATURES

      Arthritis and rheumatism
    51. GULKO PS; ARAYSSI TK; DAVIS JC; PANDO J; YARBORO C; BRANIGAN PJ; HUDSON A; KASTNER DL; KLIPPEL JH; WILDER RL; SCHUMACHER HR
      VARIABLE HLA A2 BUT NOT B27 FREQUENCY AMONG RECENT-ONSET ARTHRITIS PATIENTS POSITIVE OR NEGATIVE FOR CHLAMYDIA-TRACHOMATIS IN THE SYNOVIUM

      Arthritis and rheumatism
    52. GULKO PS; ARAYSSI TK; DAVIS JC; PANDO J; YARBORO C; KASTNER DL; KLIPPEL JH; WILDER RL; SCHUMACHER HR
      ROLE OF HLA TYPING IN DIAGNOSIS AND PREDICTION OF ONE-YEAR OUTCOME OFPATIENTS WITH RECENT-ONSET SYNOVITIS

      Arthritis and rheumatism
    53. HIRSCH R; LIN JP; SCOTT WW; MA L; PILLEMER SR; KASTNER DL; JACOBSSON L; KNOWLER WC; BALE SJ
      CONSTRUCTION IN A NATIVE-AMERICAN POPULATION - APPLICATION TO AN ANALYSIS OF FAMILIAL CLUSTERING OF RHEUMATOID-ARTHRITIS

      Arthritis and rheumatism
    54. PRAS E; SCHUMACHER HR; KASTNER DL; WILDER RL
      LACK OF EVIDENCE OF MYCOBACTERIA IN SYNOVIAL TISSUE FROM PATIENTS WITH RHEUMATOID-ARTHRITIS

      Arthritis and rheumatism
    55. LEVY EN; SHEN Y; KUPELIAN A; KRUGLYAK L; AKSENTIJEVICH I; PRAS E; BALOW JE; LINZER B; CHEN XG; SHELTON DA; GUMUCIO D; PRAS M; SHOHAT M; ROTTER JI; FISCHELGHODSIAN N; RICHARDS RI; KASTNER DL
      LINKAGE DISEQUILIBRIUM MAPPING PLACES THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER CLOSE TO D16S246

      American journal of human genetics
    56. MCDERMOTT M; HSU C; MOLLOY MG; MULCAHY B; PHELAN M; SHANAHAN F; OGARA F; ADAMS C; RUBIN LA; CLEGG DO; HUSEBYE D; AMOS CI; WARD RH; KASTNER DL
      NON-LINKAGE OF A T-CELL RECEPTOR-GAMMA CHAIN MICROSATELLITE (D7S485) TO RHEUMATOID-ARTHRITIS, IN MULTIPLEX FAMILIES

      Journal of autoimmunity
    57. AKSENTIJEVICH I; CHEN X; BALOW JE; LEVY E; PRAS E; GARDNER D; PRAS M; FISCHELGHODSIAN N; KUPELIAN A; SHOHAT M; ROTTER JI; SHEN Y; RICHARDS RI; CALLEN DF; DOGGETT NA; LIU P; BLAKE T; SHELTON D; GUMUCIO D; KASTNER DL
      REFINED LOCALIZATION OF THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER

      Cytogenetics and cell genetics
    58. KOZMAN HM; KEITH TP; GERKEN S; DONISKELLER H; WHITE RL; WEISSENBACH J; AKSENTIJEVICH I; KASTNER DL; VERGNAUD G; KIDD K; GUSELLA J; JEFFREYS A; SUTHERLAND GR; MULLEY JC
      THE CEPH CONSORTIUM LINKAGE MAP OF HUMAN-CHROMOSOME-16

      Cytogenetics and cell genetics
    59. STRATAKIS CA; PRAS E; TSIGOS C; KARL M; PAPANICOLAOU DA; KASTNER DL; CARNEY JA; CHROUSOS GP
      GENETICS OF CARNEY COMPLEX - PARENT-OF-ORIGIN EFFECTS AND PUTATIVE NON-MENDELIAN FEATURES IN AN AUTOSOMAL-DOMINANT DISORDER - ABSENCE OF COMMON DEFECTS OF THE ACTH RECEPTOR AND RET GENES

      Pediatric research
    60. MCDERMOTT M; KASTNER DL; HOLLOMAN JD; SCHMIDTWOLF G; LUNDBERG AS; SINHA AA; HSU C; CASHIN P; MOLLOY MG; MULCAHY B; OGARA F; MCCONNELL FI; ADAMS C; KHAN MA; WOLFE F; RUBIN LA; CLEGG DO; HUSEBYE D; AMOS CI; WARD RH; MCDEVITT HO
      THE ROLE OF T-CELL RECEPTOR-BETA CHAIN GENES IN SUSCEPTIBILITY TO RHEUMATOID-ARTHRITIS

      Arthritis and rheumatism
    61. STRATAKIS CA; PRAS E; LIN JP; KASTNER DL; CARNEY JA; CHROUSOS GP
      CARNEY COMPLEX, A MULTIPLE ENDOCRINE NEOPLASIA AND FAMILIAL LENTIGINOSIS SYNDROME - CLINICAL ANALYSIS AND LINKAGE TO THE D2S123 LOCUS (CHROMOSOME 2P16)

      American journal of human genetics
    62. AKSENTIJEVICH I; ALTHERR M; APOSTOLOU S; BALOW JE; BLAKE T; CALLEN DF; CENTOLA M; CHEN X; CHEN X; COLLINS FS; DOGGETT NA; FISCHELGHODSIAN N; GARDNER D; GUMUCIO D; KRIZMAN DB; LEVY E; LIU P; MARRONE BL; PRAS E; PRAS M; RICHARDS RI; ROTTER JI; SHELTON D; SHOHAT M; SOOD R; WOOD G; KASTNER DL
      PHYSICAL AND TRANSCRIPTIONAL MAP OF THE FMF CANDIDATE REGION

      American journal of human genetics
    63. PRAS E; RABEN N; GOLOMB E; ARBER N; AKSENTIJEVICH I; SCHAPIRO JM; HAREL D; KATZ G; LIBERMAN U; PRAS M; KASTNER DL
      MUTATIONS IN THE SLC3A1 TRANSPORTER GENE IN CYSTINURIA

      American journal of human genetics
    64. PRAS E; ARBER N; AKSENTIJEVICH I; KATZ G; SCHAPIRO JM; PROSEN L; GRUBERG L; HAREL D; LIBERMAN U; WEISSENBACH T; PRAS M; KASTNER DL
      LOCALIZATION OF A GENE CAUSING CYSTINURIA TO CHROMOSOME 2P

      Nature genetics
    65. AKSENTIJEVICH I; LEVY E; PRAS E; CHEN X; FERRIN L; KEITH T; PRAS M; KASTNER DL
      GENETIC AND PHYSICAL MAPPING OF THE GENE FOR FAMILIAL MEDITERRANEAN FEVER (FMF)

      Journal of cellular biochemistry
    66. PRAS E; ARBER N; SHAPIRO J; AKSENTIJEVICH I; KATZ G; HARELL D; LIBERMAN U; PRAS M; KASTNER DL
      LINKAGE STUDIES IN CYSTINURIA

      Journal of cellular biochemistry
    67. PRAS E; AKSENTIJEVICH I; LEVY E; GRUBERG L; PROSEN L; DEAN M; PRAS M; KASTNER DL
      THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER MAPS TO THE SHORT ARM OF CHROMOSOME-16 IN DRUZE AND MOSLEM ARAB FAMILIES

      Human genetics
    68. PRAS E; ARBER N; AKSENTIJEVICH I; WEISSENBACH J; PRAS M; KASTNER DL
      LINKAGE OF CYSTINURIA TO CHROMOSOME-2P

      Clinical research
    69. AKSENTIJEVICH I; GRUBERG L; PRAS E; BALOW JE; KOVO M; GAZIT E; DEAN M; PRAS M; KASTNER DL
      EVIDENCE FOR LINKAGE OF THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVERTO CHROMOSOME 17Q IN NON-ASHKENAZI JEWISH FAMILIES - 2ND LOCUS OR TYPE-I ERROR

      Human genetics
    70. RUBIN LA; MCDERMOTT M; KASTNER DL; AMOS CI; MCDEVITT HO; HOLLOMAN JD; SCHMIDTWOLF G; SINHA AA; LUNDBERG AS; CASHIN P; MOLLOY MG; KHAN MA; WOLFE F; CLEGG D; WARD R
      THE ROLE OF T-CELL RECEPTOR BETA-CHAIN HAPLOTYPES IN CONFERRING GENETIC SUSCEPTIBILITY TO RHEUMATOID-ARTHRITIS

      Arthritis and rheumatism
    71. LEVY E; PRAS E; AKSENTIJEVICH I; PROSEN L; SWAIN P; KEITH T; SHEN Y; RICHARDS RI; DEAN M; PRAS M; KASTNER DL
      REFINED MAPPING OF THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER

      American journal of human genetics
    72. AKSENTIJEVICH I; PRAS E; GRUBERG L; SHEN Y; HOLMAN K; HELLING S; PROSEN L; SUTHERLAND GR; RICHARDS RI; DEAN M; PRAS M; KASTNER DL
      FAMILIAL MEDITERRANEAN FEVER (FMF) IN MOROCCAN JEWS - DEMONSTRATION OF A FOUNDER EFFECT BY EXTENDED HAPLOTYPE ANALYSIS

      American journal of human genetics
    73. AKSENTIJEVICH I; PRAS E; GRUBERG L; SHEN Y; HOLMAN K; HELLING S; PROSEN L; SUTHERLAND GR; RICHARDS RI; RAMSBURG M; DEAN M; PRAS M; AMOS CI; KASTNER DL
      REFINED MAPPING OF THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER, BY LINKAGE AND HOMOZYGOSITY STUDIES

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/06/20 alle ore 20:44:10