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La ricerca find articoli where authors phrase all words ' GERAGHTY MT' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 38 riferimenti
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    1. Praphanphoj, V; Sacksteder, KA; Gould, SJ; Thomas, GH; Geraghty, MT
      Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYSS gene

      MOLECULAR GENETICS AND METABOLISM
    2. Li, M; Shuman, C; Fei, YL; Cutiongco, E; Bender, HA; Stevens, C; Wilkins-Haug, L; Day-Salvatore, D; Yong, SL; Geraghty, MT; Squire, J; Weksberg, R
      GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Hoover-Fong, JE; Geraghty, MT; Raymond, GV; Thomas, GH
      Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser

      JOURNAL OF INHERITED METABOLIC DISEASE
    4. Praphanphoj, V; Goodman, BK; Thomas, GH; Niel, KM; Toomes, C; Dixon, MJ; Geraghty, MT
      Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

      GENOMICS
    5. Hayashi, N; Geraghty, MT; Green, WR
      Ocular histopathologic study of a patient with the T 8993-G point mutationin Leigh's syndrome

      OPHTHALMOLOGY
    6. Cargile, CB; McIntosh, I; Clough, MV; Rutberg, J; Yaghmai, R; Goodman, BK; Chen, XN; Korenberg, JR; Thomas, GH; Geraghty, MT
      Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Goodman, BK; Rutberg, J; Lin, WW; Pulver, AE; Thomas, GH; Geraghty, MT
      Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

      JOURNAL OF INHERITED METABOLIC DISEASE
    8. Praphanproj, V; Boyadjiev, SA; Waber, LJ; Brusilow, SW; Geraghty, MT
      Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia

      JOURNAL OF INHERITED METABOLIC DISEASE
    9. Sacksteder, KA; Biery, BJ; Morrell, JC; Goodman, BK; Geisbrecht, BV; Cox, RP; Gould, SJ; Geraghty, MT
      Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Marsh, DJ; Kum, JB; Lunetta, KL; Bennett, MJ; Gorlin, RJ; Ahmed, SF; Bodurtha, J; Crowe, C; Curtis, MA; Dasouki, M; Dunn, T; Feit, H; Geraghty, MT; Graham, JM; Hodgson, SV; Hunter, A; Korf, BR; Manchester, D; Miesfeldt, S; Murday, VA; Nathanson, KL; Parisi, M; Pober, B; Romano, C; Tolmie, JL; Trembath, R; Winter, RM; Zackai, EH; Zori, RT; Weng, LP; Dahia, PLM; Eng, C
      PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

      HUMAN MOLECULAR GENETICS
    11. Sigurdardottir, S; Goodman, BK; Rutberg, J; Thomas, GH; Jabs, EW; Geraghty, MT
      Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ''complete ring" syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. White, SL; Shanske, S; McGill, JJ; Mountain, H; Geraghty, MT; DiMauro, S; Dahl, HHM; Thorburn, DR
      Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

      JOURNAL OF INHERITED METABOLIC DISEASE
    13. Geraghty, MT; Bassett, D; Morrell, JC; Gatto, GJ; Bai, JW; Geisbrecht, BV; Hieter, P; Gould, SJ
      Detecting patterns of protein distribution and gene expression in silico

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    14. Rowe, PC; Barron, DF; Calkins, H; Maumenee, IH; Tong, PY; Geraghty, MT
      Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome

      JOURNAL OF PEDIATRICS
    15. Rowe, PC; Barron, DF; Calkins, H; Maumenee, IH; Tong, PY; Geraghty, MT
      Ehlers-Danlos syndrome

      JOURNAL OF PEDIATRICS
    16. Jones, JM; Nau, K; Geraghty, MT; Erdmann, R; Gould, SJ
      Identification of peroxisomal acyl-CoA thioesterases in yeast and humans

      JOURNAL OF BIOLOGICAL CHEMISTRY
    17. Geisbrecht, BV; Schulz, K; Nau, K; Geraghty, MT; Schulz, H; Erdmann, R; Gould, SJ
      Preliminary characterization of Yor180Cp: Identification of a novel peroxisomal protein of Saccharomyces cerevisiae involved in fatty acid metabolism

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    18. Hanley, WB; Platt, LD; Bachman, RP; Buist, N; Geraghty, MT; Isaacs, J; O'Flynn, ME; Rhead, WJ; Seidlitz, G; Tishler, B
      Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding

      AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
    19. GERAGHTY MT; VAUGHN D; NICHOLSON AJ; LIN WW; JIMENEZSANCHEZ G; OBIE C; FLYNN MP; VALLE D; HU CAA
      MUTATIONS IN THE DELTA(1)-PYRROLINE 5-CARBOXYLATE DEHYDROGENASE GENE CAUSE TYPE-II HYPERPROLINEMIA

      Human molecular genetics (Print)
    20. BRAITERMAN LT; ZHENG SQ; WATKINS PA; GERAGHTY MT; JOHNSON G; MCGUINNESS MC; MOSER AB; SMITH KD
      SUPPRESSION OF PEROXISOMAL MEMBRANE-PROTEIN DEFECTS BY PEROXISOMAL ATP BINDING CASSETTE (ABC) PROTEINS

      Human molecular genetics
    21. Goodman, BK; Shaffer, LG; Rutberg, J; Leppert, M; Harum, K; Gagos, S; Ray, JH; Bialer, MG; Zhou, XT; Pletcher, BA; Shapira, SK; Geraghty, MT
      Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

      AMERICAN JOURNAL OF MEDICAL GENETICS
    22. FLANAGAN N; BOYADJIEV SA; HARPER J; KYNE L; EARLEY M; WATSON R; JABS EW; GERAGHTY MT
      FAMILIAL CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS - CAP SYNDROME

      Journal of Medical Genetics
    23. Montgomery, RA; Geraghty, MT; Bull, E; Gelb, BD; Johnson, M; McIntosh, I; Francomano, CA; Dietz, HC
      Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    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. NAIDU S; DLOUHY SR; GERAGHTY MT; HODES ME
      A MALE CHILD WITH THE RUMPSHAKER MUTATION, X-LINKED SPASTIC PARAPLEGIA PELIZAEUS-MERZBACHER DISEASE AND LYSINURIA

      Journal of inherited metabolic disease
    26. GERAGHTY MT; BASSETT DE; HIETER P; GOULD S
      WHOLE GENOME ANALYSIS IN SACCHAROMYCES-CEREVISIAE TO IDENTIFY PEROXISOMAL GENES

      American journal of human genetics
    27. 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
    28. GOODMAN BK; LEPPERT M; HARUM K; RUTBERG J; THOMAS GH; GERAGHTY MT
      DUPLICATION XQ27-QTER AT XP22.3 IN A SEVERELY AFFECTED CHILD AND HIS PHENOTYPICALLY NORMAL MOTHER

      American journal of human genetics
    29. RUTBERG J; KOERNER C; COOPER LF; WESSEL K; GERAGHTY MT
      MANAGEMENT AND OUTCOME OF MATERNAL PKU

      American journal of human genetics
    30. WRIGHT MJ; ARCH EM; MILLINGTON D; RUTBERG J; GERAGHTY MT
      COMPARISON OF DIAGNOSTIC METHODS IN A PATIENT WITH MCAD DEFICIENCY

      American journal of human genetics
    31. GERAGHTY MT; BASSETT DE; HIETER P; GOULD SJ
      WHOLE GENOME SCREEN FOR PEROXISOMAL PROTEINS IN SACCHAROMYCES-CEREVISIAE

      Molecular biology of the cell
    32. DELEEUW B; BALEMANS M; WEGHUIS DO; SERUCA R; JANZ M; GERAGHTY MT; GILGENKRANTZ S; ROPERS HH; VANKESSEL AG
      MOLECULAR-CLONING OF THE SYNOVIAL SARCOMA-SPECIFIC TRANSLOCATION (X18)(P11.2Q11.2) BREAKPOINT

      Human molecular genetics
    33. MARBLE M; GERAGHTY MT; DEFRANCHIS R; KRAUS JP; VALLE D
      CHARACTERIZATION OF A CYSTATHIONINE BETA-SYNTHASE ALLELE WITH 3 MUTATIONS IN CIS IN A PATIENT WITH B-6 NONRESPONSIVE HOMOCYSTINURIA

      Human molecular genetics
    34. DELEEUW B; BALEMANS M; WEGHUIS DO; GERAGHTY MT; GILGENKRANTZ S; ROPERS HH; VANKESSEL AG
      MOLECULAR-CLONING OF THE SYNOVIAL SARCOMA-SPECIFIC TRANSLOCATION (X18)(P11.2Q11.2) BREAKPOINT

      Cytogenetics and cell genetics
    35. GERAGHTY MT; KEARNS WG; PEARSON PL; VALLE D
      ISOLATION AND CHARACTERIZATION OF AN ORNITHINE AMINOTRANSFERASE-RELATED SEQUENCE (OATL3) MAPPING TO 10Q26

      Genomics
    36. GERAGHTY MT; BRODY LC; MARTIN LS; MARBLE M; KEARNS W; PEARSON P; MONACO AP; LEHRACH H; VALLE D
      THE ISOLATION OF CDNAS FROM OATL1 AT XP11.2 USING A 480-KB YAC

      Genomics
    37. SUIJKERBUIJK RF; MELONI AM; SINKE RJ; DELEEUW B; WILBRINK M; JANSSEN HAP; GERAGHTY MT; MONACO AP; SANDBERG AA; VANKESSEL AG
      IDENTIFICATION OF A YEAST ARTIFICIAL CHROMOSOME THAT SPANS THE HUMAN PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED T(X1) BREAKPOINT IN XP11.2

      Cancer genetics and cytogenetics
    38. MARBLE M; GERAGHTY MT; DEFRANCHIS R; KRAUS J; VALLE D
      A CYSTATHIONINE BETA-SYNTHASE (CBS) ALLELE WITH 3 MUTATIONS IN CIS INA P ATIENT WITH B6-NONRESPONSIVE HOMOCYSTINURIA

      American journal of human genetics


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Documento generato il 22/10/20 alle ore 21:37:28