Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where authors phrase all words 'Kelley, RI' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 63 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Kelley, RI
      Inborn errors of sterol biosynthesis

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Houten, SM; Koster, J; Romeijn, GJ; Frenkel, J; Di Rocco, M; Caruso, U; Landrieu, P; Kelley, RI; Kuis, W; Poll-The, BT; Gibson, KM; Wanders, RJA; Waterham, HR
      Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Houten, SM; Koster, J; Romeijn, GJ; Frenkel, J; Di Rocco, M; Caruso, U; Landrieu, P; Kelley, RI; Kuis, W; Poll-The, BT; Gibson, KM; Wanders, RJA; Waterham, HR
      Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Witsch-Raumgartner, M; Ciara, E; Loffler, J; Menzel, HJ; Seedorf, U; Burn, J; Gillessen-Kaesbach, G; Hoffmann, GF; Fitzy, BU; Mundy, H; Clayton, P; Kelley, RI; Krajewska-Walasek, M; Utermann, G
      Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    5. Wassif, CA; Zhu, PJ; Kratz, L; Krakowiak, PA; Battaile, KP; Weight, FF; Grinberg, A; Steiner, RD; Nwokoro, NA; Kelley, RI; Stewart, RR; Porter, FD
      Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

      HUMAN MOLECULAR GENETICS
    6. Seo, KW; Kelley, RI; Okano, S; Watanabe, T
      Mouse Td(ho) abnormality results from double point mutations of the emopamil binding protein gene (Ebp)

      MAMMALIAN GENOME
    7. Haas, D; Kelley, RI; Hoffmann, GF
      Inherited disorders of cholesterol biosynthesis

      NEUROPEDIATRICS
    8. De Kremer, RD; Paschini-Capra, A; Bacman, S; Argarana, C; Civallero, G; Kelley, RI; Guelbert, N; Latini, A; de Halac, IN; Giner-Ayala, A; Johnston, J; Proujansky, R; Gonzalez, I; Depetris-Boldini, C; Oller-Ramirez, A; Angaroni, C; Theaux, RA; Hliba, E; Juaneda, E
      Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Kumada, S; Hayashi, M; Kenmochi, J; Kurosawa, S; Shimozawa, N; Kratz, LE; Kelley, RI; Taki, K; Okaniwa, M
      Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Tierney, E; Nwokoro, NA; Porter, FD; Freund, LS; Ghuman, JK; Kelley, RI
      Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. Mazzocco, MMM; Kelley, RI
      Preliminary evidence for a cognitive phenotype in Barth syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. 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
    13. Waterham, HR; Koster, J; Romeijn, GJ; Hennekam, RCM; Vreken, P; Andersson, HC; FitzPatrick, DR; Kelley, RI; Wanders, RJA
      Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

      AMERICAN JOURNAL OF HUMAN GENETICS
    14. Tierney, E; Nwokoro, NA; Kelley, RI
      Behavioral phenotype of RSH/Smith Lemli-Opitz syndrome

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    15. Grange, DK; Kelley, RI
      Reply to the letter to the editor by Happle et al. - "Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase"

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Grange, DK; Kratz, LE; Braverman, NE; Kelley, RI
      CHILD syndrome caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. Kelley, RI; Hennekam, RCM
      The Smith-Lemli-Opitz syndrome

      JOURNAL OF MEDICAL GENETICS
    18. Johnston, JJ; Kelley, RI; Crawford, TO; Morton, DH; Agarwala, R; Koch, T; Schaffer, AA; Francomano, CA; Biesecker, LG
      A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. Witsch-Baumgartner, M; Fitzky, BU; Ogorelkova, M; Kraft, HG; Moebius, FF; Glossmann, H; Seedorf, U; Gillessen-Kaesbach, G; Hoffmann, GF; Clayton, P; Kelley, RI; Utermann, G
      Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    20. Derry, JMJ; Gormally, E; Means, GD; Zhao, W; Meindl, A; Kelley, RI; Boyd, Y; Herman, GE
      Mutations in a Delta(8)-Delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata

      NATURE GENETICS
    21. Braverman, N; Lin, P; Moebius, FF; Obie, C; Moser, A; Glossmann, H; Wilcox, WR; Rimoin, DL; Smith, M; Kratz, L; Kelley, RI; Valle, D
      Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome

      NATURE GENETICS
    22. Liu, XY; Dangel, AW; Kelley, RI; Zhao, W; Denny, P; Botcherby, M; Cattanach, B; Peters, J; Hunsicker, PR; Mallon, AM; Strivens, MA; Bate, R; Miller, W; Rhodes, M; Brown, SDM; Herman, GE
      The gene mutated in bare patches and striated mice encodes a novel 3 beta-hydroxysteroid dehydrogenase

      NATURE GENETICS
    23. Crawford, TO; Sladky, JT; Hurko, O; Besner-Johnston, A; Kelley, RI
      Abnormal fatty acid metabolism in childhood spinal muscular atrophy

      ANNALS OF NEUROLOGY
    24. Bick, DP; McCorkle, D; Stanley, WS; Stern, HJ; Staszak, P; Berkovitz, GD; Meyers, CM; Kelley, RI
      Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus

      PRENATAL DIAGNOSIS
    25. Neklason, DW; Andrews, KM; Kelley, RI; Metherall, JE
      Biochemical variants of Smith-Lemli-Opitz syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Kelley, RI; Wilcox, WG; Smith, M; Kratz, LE; Moser, A; Rimoin, DS
      Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. (vol 83, pg 213, 1999)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Kelley, RI; Wilcox, WG; Smith, M; Kratz, LE; Moser, A; Rimoin, DS
      Rapid publication - Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Kratz, LE; Kelley, RI
      Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Bradley, LA; Palomaki, GE; Knight, GJ; Haddow, JE; Opitz, JM; Irons, M; Kelley, RI; Tint, GS
      Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. van der Knaap, MS; Jakobs, C; Hoffmann, GF; Duran, M; Muntau, AC; Schweitzer, S; Kelley, RI; Parrot-Roulaud, F; Amiel, J; De Lonlay, P; Rabier, D; Eeg-Olofsson, O
      D-2-hydroxyglutaric aciduria: Further clinical delineation

      JOURNAL OF INHERITED METABOLIC DISEASE
    31. Shackleton, CHL; Roitman, E; Kratz, LE; Kelley, RI
      Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency)

      STEROIDS
    32. Shackleton, CHL; Roitman, E; Kratz, LE; Kelley, RI
      Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    33. HINSON DD; ROGERS ZR; HOFFMANN GF; SCHACHTELE M; FINGERHUT R; KOHLSCHUTTER A; KELLEY RI; GIBSON KM
      HEMATOLOGICAL ABNORMALITIES AND CHOLESTATIC LIVER-DISEASE IN 2 PATIENTS WITH MEVALONATE KINASE-DEFICIENCY

      American journal of medical genetics
    34. ANDERSON AJ; STEPHAN MJ; WALKER WO; KELLEY RI
      VARIANT RSH SMITH-LEMLI-OPITZ-SYNDROME WITH ATYPICAL STEROL-METABOLISM/

      American journal of medical genetics
    35. KELLEY RI
      RSH SMITH-LEMLI-OPITZ-SYNDROME - MUTATIONS AND METABOLIC MORPHOGENESIS/

      American journal of human genetics
    36. KELLEY RI
      A NEW FACE FOR AN OLD SYNDROME

      American journal of medical genetics
    37. CUNNIFF C; KRATZ LE; MOSER A; NATOWICZ MR; KELLEY RI
      CLINICAL AND BIOCHEMICAL SPECTRUM OF PATIENTS WITH RSH SMITH-LEMLI-OPITZ SYNDROME AND ABNORMAL CHOLESTEROL-METABOLISM/

      American journal of medical genetics
    38. LIN AE; ARDINGER HH; ARDINGER RH; CUNNIFF C; KELLEY RI
      CARDIOVASCULAR MALFORMATIONS IN SMITH-LEMLI-OPITZ SYNDROME

      American journal of medical genetics
    39. HONDA A; TINT GS; SALEN G; KELLEY RI; HONDA M; BATTA AK; CHEN TS; SHEFER S
      STEROL CONCENTRATIONS IN CULTURED SMITH-LEMLI-OPITZ SYNDROME SKIN FIBROBLASTS - DIAGNOSIS OF A BIOCHEMICALLY ATYPICAL CASE OF THE SYNDROME

      American journal of medical genetics
    40. DEKREMER RD; DEBOLDINI CD; KELLEY RI; CIVALLERO GE
      MITOCHONDRIAL 2-METHYLACETOACETYL-COA THI OLASE DEFICIENCY IN ARGENTINA

      Medicina
    41. HOON AH; REINHARDT EM; KELLEY RI; BREITER SN; MORTON DH; NAIDU S; JOHNSTON MV
      BRAIN MAGNETIC-RESONANCE-IMAGING IN SUSPECTED EXTRAPYRAMIDAL CEREBRAL-PALSY - OBSERVATIONS IN DISTINGUISHING GENETIC-METABOLIC FROM ACQUIRED CAUSES

      The Journal of pediatrics
    42. JOHNSTON J; KELLEY RI; FEIGENBAUM A; COX GF; IYER GS; FUNANAGE VL; PROUJANSKY R
      MUTATION CHARACTERIZATION AND GENOTYPE-PHENOTYPE CORRELATION IN BARTH-SYNDROME

      American journal of human genetics
    43. BICK DP; STANLEY WS; STERN HJ; BERKOVITZ GD; MEYERS CM; KELLEY RI
      PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ-SYNDROME (SLO) IN A SEX-REVERSED FETUS

      American journal of human genetics
    44. JOHNSTON JJ; KELLEY RI; FEIGENBAUM A; COX GF; IYER G; FUNANAGE VL; PROUJANSKY R
      MUTATION CHARACTERIZATION AND GENOTYPE-PHENOTYPE CORRELATION IN BARTHSYNDROME

      American journal of human genetics
    45. KELLEY RI; ROESSLER E; HENNEKAM RCM; FELDMAN GI; KOSAKI K; JONES MC; PALUMBOS JC; MUENKE M
      HOLOPROSENCEPHALY IN RSH SMITH-LEMLI-OPITZ-SYNDROME - DOES ABNORMAL CHOLESTEROL-METABOLISM AFFECT THE FUNCTION OF SONIC-HEDGEHOG/

      American journal of medical genetics
    46. CUNNIFF C; KRATZ LE; MOSER A; NATOWICZ MR; KELLEY RI
      CLINICAL SPECTRUM OF PATIENTS WITH RSH SMITH-LEMLI-OPTIZ SYNDROME/

      Pediatric research
    47. BIESECKER LG; KANG S; SCHAFFER AA; ABBOTT M; KELLEY RI; ALLEN JC; CLERICUZIO C; GREBE T; OLNEY A; GRAHAM JM
      EXCLUSION OF CANDIDATE LOCI AND CHOLESTEROL BIOSYNTHETIC ABNORMALITIES IN FAMILIAL PALLISTER-HALL SYNDROME

      Journal of Medical Genetics
    48. TEIN I; SLOANE AE; DONNER EJ; LEHOTAY DC; MILLINGTON DS; KELLEY RI
      FATTY-ACID OXIDATION ABNORMALITIES IN CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY - PRIMARY OR SECONDARY DEFECT(S)

      Pediatric neurology
    49. CRAWFORD TO; SLADKY JT; HURKO O; KELLEY RI
      ABNORMALITIES IN FATTY-ACID METABOLISM IN INFANTS WITH TYPE-1 SPINAL MUSCULAR-ATROPHY

      Annals of neurology
    50. CRAWFORD TO; HOLMES D; KUNCL RW; CHAUDHRY V; KELLEY RI
      AMISH CHICKEN BREAST DISEASE WITH UNUSUAL NEMALINE ROD MYOPATHY

      Annals of neurology
    51. ROSSITER JP; HOFMAN KJ; KELLEY RI
      SMITH-LEMLI-OPITZ SYNDROME - PRENATAL-DIAGNOSIS BY QUANTIFICATION OF CHOLESTEROL PRECURSORS IN AMNIOTIC-FLUID

      American journal of medical genetics
    52. KELLEY RI; KRATZ L
      3-METHYLGLUTACONIC ACIDEMIA IN SMITH-LEMLI-OPITZ SYNDROME

      Pediatric research
    53. AOYAMA T; SOURI M; USHIKUBO S; KAMIJO T; YAMAGUCHI S; KELLEY RI; RHEAD WJ; UETAKE K; TANAKA K; HASHIMOTO T
      PURIFICATION OF HUMAN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE AND CHARACTERIZATION OF ITS DEFICIENCY IN 7 PATIENTS

      The Journal of clinical investigation
    54. SIEBLER T; LOPACZYNSKI W; TERRY CL; CASELLA SJ; MUNSON P; DELEON DD; PHANG L; BLAKEMORE KJ; MCEVOY RC; KELLEY RI; NISSLEY P
      INSULIN-LIKE GROWTH-FACTOR-I RECEPTOR EXPRESSION AND FUNCTION IN FIBROBLASTS FROM 2 PATIENTS WITH DELETION OF THE DISTAL LONG ARM OF CHROMOSOME-15

      The Journal of clinical endocrinology and metabolism
    55. KELLEY RI
      DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME BY GAS-CHROMATOGRAPHY MASS-SPECTROMETRY OF 7-DEHYDROCHOLESTEROL IN PLASMA, AMNIOTIC-FLUID AND CULTURED SKIN FIBROBLASTS

      Clinica chimica acta
    56. CUNNIFF CM; ABUELO DN; ARN PH; BARNSHAD MJ; CAREY JC; NWOKORO NA; MULVIHILL JJ; ZACKAI EH; KELLEY RI
      CONCORDANCE OF CLINICAL FINDINGS IN SIBLINGS WITH THE SMITH-LEMLI-OPITZ SYNDROME

      American journal of human genetics
    57. COX GF; PULSIPHER M; ROTHENBERG M; KORSON M; KELLEY RI
      CORRECTION OF NEUTROPENIA IN BARTH SYNDROME BY G-CSF

      American journal of human genetics
    58. TEIN I; SLOANE AE; DONNER E; LEHOTAY DC; MILLINGTON DS; KELLEY RI
      PATTY ACID OXIDATION ABNORMALITIES IN CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY - PRIMARY OR SECONDARY DEFECT(S)

      Annals of neurology
    59. KELLEY RI
      THE ROLE OF CARNITINE SUPPLEMENTATION IN VALPROIC ACID THERAPY

      Pediatrics
    60. KELLEY RI; KRATZ LE
      3-METHYLGLUTACONIC ACIDEMIA - A POSSIBLE MARKER FOR INBORN-ERRORS OF POLYISOPRENOID AND STEROL BIOSYNTHESIS

      Pediatric research
    61. GIBSON KM; ELPELEG ON; JAKOBS C; COSTEFF H; KELLEY RI
      MULTIPLE SYNDROMES OF 3-METHYLGLUTACONIC ACIDURIA

      Pediatric neurology
    62. KELLEY RI
      PRENATAL DETECTION OF CANAVAN DISEASE BY MEASUREMENT OF N-ACETYL-L-ASPARTATE IN AMNIOTIC-FLUID

      Journal of inherited metabolic disease
    63. KELLEY RI
      QUANTIFICATION OF 3-METHYLGLUTACONIC ACID IN URINE, PLASMA, AND AMNIOTIC-FLUID BY ISOTOPE-DILUTION GAS-CHROMATOGRAPHY MASS-SPECTROMETRY

      Clinica chimica acta


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/06/20 alle ore 00:09:51