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La ricerca find articoli where soggetti phrase all words 'GENOTYPE-PHENOTYPE CORRELATIONS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 73 riferimenti
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    1. Gjetting, T; Petersen, M; Guldberg, P; Guttler, F
      In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: Correlation with metabolic phenotypes and susceptibility toward protein aggregation

      MOLECULAR GENETICS AND METABOLISM
    2. Bartsch, C; Aslan, M; Kohler, J; Miny, P; Horst, J; Holzgreve, W; Rehder, H; Fritz, B
      Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): Further delineation of trisomies 1q

      FETAL DIAGNOSIS AND THERAPY
    3. Fearnhead, NS; Britton, MP; Bodmer, WF
      The ABC of APC

      HUMAN MOLECULAR GENETICS
    4. Dharnidharka, VR; Ruteshouser, EC; Rosen, S; Kozakewich, H; Harris, HW; Herrin, JT; Huff, V
      Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins

      PEDIATRIC NEPHROLOGY
    5. Cetinkaya, E; Ocal, G; Berberoglu, M; Adiyaman, P; Ekim, M; Yalcinkaya, F; Orun, E
      Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: Incomplete Denys-Drash syndrome

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    6. de Sanctis, L; Bonetti, G; Bruno, M; De Luca, F; Bisceglia, L; Palacin, M; Dianzani, I; Ponzone, A
      Cystinuria phenotyping by oral lysine and arginine loading

      CLINICAL NEPHROLOGY
    7. Hes, FJ; Lips, CJM; van der Luijt, RB
      Molecular genetic aspects of Von Hippel-Lindau (VHL) disease and criteria for DNA analysis in subjects at risk

      NETHERLANDS JOURNAL OF MEDICINE
    8. Lynch, HT; Thorson, AG; McComb, RD; Franklin, BA; Tinley, ST; Lynch, JF
      Familial adenomatous polyposis and extracolonic cancer

      DIGESTIVE DISEASES AND SCIENCES
    9. Park, JK; Koprivica, V; Andrews, DQ; Madike, V; Tayebi, N; Stone, DL; Sidransky, E
      Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Dawson, KP; Frossard, PM
      The S549R (T -> G) cystic fibrosis gene mutation

      JOURNAL OF TROPICAL PEDIATRICS
    11. Erlandsen, H; Stevens, RC
      A structural hypothesis for BH4 responsiveness in patients with mild formsof hyperphenylalaninaemia and phenylketonuria

      JOURNAL OF INHERITED METABOLIC DISEASE
    12. Rabes, HM
      Gene rearrangements in radiation-induced thyroid carcinogenesis

      MEDICAL AND PEDIATRIC ONCOLOGY
    13. Sakamoto, J; Takata, A; Fukuzawa, R; Kikuchi, H; Sugiyama, M; Kanamori, Y; Hashizume, K; Hata, J
      A novel WT1 gene mutation associated with Wilms' tumor and congenital malegenitourinary malformation

      PEDIATRIC RESEARCH
    14. Gemignani, F; Marbini, A
      Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    15. Cetta, F; Curia, MC; Montalto, G; Gori, M; Cama, A; Battista, P; Barbarisi, A
      Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    16. Friedl, W; Caspari, R; Uhlhaas, S; Lamberti, C; Jungck, M; Kadmon, M; Wolf, M; Fahnenstich, J; Gebert, J; Moslein, G; Mangold, E; Propping, P
      Can APC: mutation analysis contribute to therapeutic decisions in familialadenomatous polyposis? Experience from 680 FAP families

      GUT
    17. Houlston, R; Crabtree, M; Phillips, R; Crabtree, M; Tomlinson, I
      Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes

      GUT
    18. Giardiello, FM; Brensinger, JD; Petersen, GM
      AGA technical review on hereditary colorectal cancer and genetic testing

      GASTROENTEROLOGY
    19. Witchel, SF; Smith, R; Tomboc, M; Aston, CE
      Candidate gene analysis in premature pubarche and adolescent hyperandrogenism

      FERTILITY AND STERILITY
    20. Sternberg, D; Maisonobe, T; Jurkat-Rott, K; Nicole, S; Launay, E; Chauveau, D; Tabti, N; Lehmann-Horn, F; Hainque, B; Fontaine, B
      Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 inthe muscle sodium channel gene SCN4A

      BRAIN
    21. Gjetting, T; Petersen, M; Guldberg, P; Guttler, F
      Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine

      AMERICAN JOURNAL OF HUMAN GENETICS
    22. Wisniewski, KE; Kida, E; Connell, F; Zhong, N
      Neuronal ceroid lipofuscinoses: research update

      NEUROLOGICAL SCIENCES
    23. Sieber, OM; Tomlinson, IP; Lamlum, H
      The adenomatous polyposis coli (APC) tumour suppressor - genetics, function and disease

      MOLECULAR MEDICINE TODAY
    24. Sorajja, P; Elliott, PM; McKenna, WJ
      The molecular genetics of hypertrophic cardiomyopathy: prognostic implications

      EUROPACE
    25. Dipple, KM; McCabe, ERB
      Modifier genes convert "simple" Mendelian disorders to complex traits

      MOLECULAR GENETICS AND METABOLISM
    26. Novelli, G; Reichardt, JKV
      Molecular basis of disorders of human galactose metabolism: Past, present,and future

      MOLECULAR GENETICS AND METABOLISM
    27. Mervis, CB; Klein-Tasman, BP
      Williams syndrome: Cognition, personality, and adaptive behavior

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    28. Bonneau, D; Longy, M
      Mutations of the human PTEN gene

      HUMAN MUTATION
    29. Jennings, IG; Cotton, RGH; Kobe, B
      Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria

      EUROPEAN JOURNAL OF HUMAN GENETICS
    30. Bombieri, C; Luisetti, M; Belpinati, F; Zuliani, E; Beretta, A; Baccheschi, J; Casali, L; Pignatti, PF
      Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study

      EUROPEAN JOURNAL OF HUMAN GENETICS
    31. Perrault, I; Rozet, JM; Gerber, S; Ghazi, I; Ducroq, D; Souied, E; Leowski, C; Bonnemaison, M; Dufier, JL; Munnich, A; Kaplan, J
      Spectrum of retGC1 mutations in Leber's congenital amaurosis

      EUROPEAN JOURNAL OF HUMAN GENETICS
    32. Pang, CP; Keung, JWY; Tang, NLS; Fan, DSP; Lau, JWY; Lam, DSC
      Congenital hypertrophy of the retinal pigment epithelium and APC mutationsin two Chinese families with familial adenomatous polyposis

      EYE
    33. Guttler, F; Guldberg, P
      Mutation analysis anticipates dietary requirements in phenylketonuria

      EUROPEAN JOURNAL OF PEDIATRICS
    34. Niederau, C; Haussinger, D
      Gaucher's disease: A review for the internist and hepatologist

      HEPATO-GASTROENTEROLOGY
    35. Taylor, MD; Mainprize, TG; Rutka, JT
      Molecular insight into medulloblastoma and central nervous system primitive neuroectodermal tumor biology from hereditary syndromes: A review

      NEUROSURGERY
    36. Lorenzon, NM; Beam, KG
      Calcium channelopathies

      KIDNEY INTERNATIONAL
    37. Nilbert, M; Fernebro, J; Kristoffersson, U
      Novel germline APC mutations in Swedish patients with familial adenomatouspolyposis and Gardner syndrome

      SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
    38. Ruff, RL
      Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    39. Zaletaev, DV
      DNA diagnostics in oncology

      MOLECULAR BIOLOGY
    40. Eng, C
      Will the real Cowden syndrome please stand up: revised diagnostic criteria

      JOURNAL OF MEDICAL GENETICS
    41. Kanavakis, E; Papassotiriou, I; Karagiorga, M; Vrettou, C; Metaxotou-Mavrommati, A; Stamoulakatou, A; Kattamis, C; Traeger-Synodinos, J
      Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience

      BRITISH JOURNAL OF HAEMATOLOGY
    42. Ficari, F; Cama, A; Valanzano, R; Curia, MC; Palmirotta, R; Aceto, G; Esposito, DL; Crognale, S; Lombardi, A; Messerini, L; Mariani-Costantini, R; Tonelli, F; Battista, P
      APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis

      BRITISH JOURNAL OF CANCER
    43. Koprivica, V; Stone, DL; Park, JK; Callahan, M; Frisch, A; Cohen, IJ; Tayebi, N; Sidransky, E
      Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

      AMERICAN JOURNAL OF HUMAN GENETICS
    44. Gatti, RA; Tward, A; Concannon, P
      Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations

      MOLECULAR GENETICS AND METABOLISM
    45. Akerman, BR; Lemass, H; Chow, LML; Lambert, DM; Greenberg, C; Bibeau, C; Mamer, OA; Treacy, EP
      Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort

      MOLECULAR GENETICS AND METABOLISM
    46. Lichter-Konecki, U; Hipke, CM; Konecki, DS
      Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues

      MOLECULAR GENETICS AND METABOLISM
    47. Guttler, F; Guldberg, P; Eisensmith, RC; Woo, SLC
      Molecular genetics and outcome in PKU

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    48. Desviat, LR; Perez, B; Gamez, A; Sanchez, A; Garcia, MJ; Martinez-Pardo, M; Marchante, C; Boveda, D; Baldellou, A; Arena, J; Sanjurjo, P; Fernandez, A; Cabello, ML; Ugarte, M
      Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

      EUROPEAN JOURNAL OF HUMAN GENETICS
    49. Brassat, D; Durr, A; Agid, Y; Brice, A
      Genetic aspect of Parkinson's disease.

      REVUE DE MEDECINE INTERNE
    50. Ruff, RL
      Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current

      NEUROLOGY
    51. Morrill, JA; Cannon, SC
      Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes

      JOURNAL OF PHYSIOLOGY-LONDON
    52. Zekanowski, C; Nowacka, M; Sendecka, E; Slowik, M; Cabalska, B; Bal, J
      Identification of mutations causing 6-pyruvoyl-tetrahydrobiopterin synthase deficiency in Polish patients with variant hyperphenylalaninemia

      MOLECULAR DIAGNOSIS
    53. ROZET JM; GERBER S; SOUIED E; PERRAULT I; CHATELIN S; GHAZI I; LEOWSKI C; DUFIER JL; MUNNICH A; KAPLAN J
      SPECTRUM OF ABCR GENE-MUTATIONS IN AUTOSOMAL RECESSIVE MACULAR DYSTROPHIES

      European journal of human genetics
    54. NEUMANN HPH; BENDER BU
      GENOTYPE-PHENOTYPE CORRELATIONS IN VON-HIPPEL-LINDAU-DISEASE

      Journal of internal medicine
    55. MacKenzie, JJ; Amato, D; Clarke, JTR
      Enzyme replacement therapy for Gaucher's disease: the early Canadian experience

      CANADIAN MEDICAL ASSOCIATION JOURNAL
    56. Desnick, RJ; Glass, IA; Xu, WM; Solis, C; Astrin, KH
      Molecular genetics of congenital erythropoietic porphyria

      SEMINARS IN LIVER DISEASE
    57. DEJONG JGN; AERTS JMFG; VANWEELY S; HOLLAK CEM; VANPELT J; VANWOERKOM LMJ; LIEBRANDVANSAMBEEK MLF; WEVERS RA
      OLIGOSACCHARIDE EXCRETION IN ADULT GAUCHER-DISEASE

      Journal of inherited metabolic disease
    58. GRABOWSKI GA; HOROWITZ M
      GAUCHERS-DISEASE - MOLECULAR, GENETIC AND ENZYMOLOGICAL ASPECTS

      Bailliere's clinical haematology
    59. CHOY FYM; HUMPHRIES ML; FERREIRA P
      NOVEL INSERTION MUTATION IN A NON-JEWISH CAUCASIAN TYPE-1 GAUCHER-DISEASE PATIENT

      American journal of medical genetics
    60. GIRALDO P; PEREZCALVO JI; GIRALT M; POCOVI M
      CLINICAL CHARACTERISTICS OF GAUCHERS-DISE ASE IN SPAIN - PRELIMINARY-RESULTS OF A NATIONAL INQUIRY

      Medicina Clinica
    61. GRACE ME; DESNICK RJ; PASTORES GM
      IDENTIFICATION AND EXPRESSION OF ACID BETA-GLUCOSIDASE MUTATIONS CAUSING SEVERE TYPE-1 AND NEUROLOGIC TYPE-2 GAUCHER-DISEASE IN NON-JEWISH PATIENTS

      The Journal of clinical investigation
    62. GRABOWSKI GA; SAAL HM; WENSTRUP RJ; BARTON NW
      GAUCHER DISEASE - A PROTOTYPE FOR MOLECULAR MEDICINE

      Critical reviews in oncology/hematology
    63. DELANEY SJ; ALTON EWFW; SMITH SN; LUNN DP; FARLEY R; LOVELOCK PK; THOMSON SA; HUME DA; LAMB D; PORTEOUS DJ; DORIN JR; WAINWRIGHT BJ
      CYSTIC-FIBROSIS MICE CARRYING THE MISSENSE MUTATION G551D REPLICATE HUMAN GENOTYPE-PHENOTYPE CORRELATIONS

      EMBO journal
    64. BUTLER MG; CHRISTIAN SL; KUBOTA T; LEDBETTER DH
      BRIEF CLINICAL REPORT - A 5-YEAR-OLD WHITE GIRL WITH PRADER-WILLI-SYNDROME AND A SUBMICROSCOPIC DELETION OF CHROMOSOME-15Q11Q13

      American journal of medical genetics
    65. DURR A; BRICE A; LEPAGELEZIN A; CANCEL G; SMADJA D; VERNANT JC; AGID Y
      AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I LINKED TO CHROMOSOME 12Q (SCA2 - SPINOCEREBELLAR ATAXIA TYPE-2)

      Clinical neuroscience
    66. ERICKSON RP; LEWIS SE
      THE NEW HUMAN-GENETICS

      Environmental and molecular mutagenesis
    67. BARRANGER JA; RICE E; SAKALLAH SA; SANSIERI C; MIFFLIN TE; COOPER DL
      ENZYMATIC AND MOLECULAR DIAGNOSIS OF GAUCHER DISEASE

      Clinics in laboratory medicine
    68. ZIMRAN A; ELSTEIN D; ABRAHAMOV A; KUHL W; BROWN KH; BEUTLER E
      PRENATAL MOLECULAR DIAGNOSIS OF GAUCHER DISEASE

      Prenatal diagnosis
    69. VILLA A; URIOSTE M; BOFARULL JM; MARTINEZFRIAS ML
      DE-NOVO INTERSTITIAL DELETION Q16.2Q21 ON CHROMOSOME-6

      American journal of medical genetics
    70. SERI M; FILOCAMO M; CORSOLINI F; BEMBI B; BARBERA C; GATTI R
      A RARE G6490-]A SUBSTITUTION AT THE LAST NUCLEOTIDE OF EXON-10 OF THEGLUCOCEREBROSIDASE GENE IN 2 UNRELATED ITALIAN GAUCHER PATIENTS

      Clinical genetics
    71. CHOY FYM; WEI C; APPLEGARTH DA; MCGILLIVRAY BC
      DNA ANALYSIS OF AN UNCOMMON MISSENSE MUTATION IN A GAUCHER DISEASE PATIENT OF JEWISH-POLISH-RUSSIAN DESCENT

      American journal of medical genetics
    72. ZIMRAN A; HOROWITZ M
      RECTL - A COMPLEX ALLELE OF THE GLUCOCEREBROSIDASE GENE ASSOCIATED WITH A MILD CLINICAL COURSE OF GAUCHER DISEASE

      American journal of medical genetics
    73. KAWAME H; MAEKAWA K; ETO Y
      MOLECULAR SCREENING OF JAPANESE PATIENTS WITH GAUCHER DISEASE - PHENOTYPIC VARIABILITY IN THE SAME GENOTYPES

      Human mutation


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/10/20 alle ore 19:16:08