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La ricerca find articoli where soggetti phrase all words 'CLINICAL PHENOTYPE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 73 riferimenti
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    1. Fan, YS; Zhang, Y; Speevak, M; Farrell, S; Jung, JH; Siu, VM
      Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes

      GENETICS IN MEDICINE
    2. Guerriero, C; De Simone, C; Venier, A; Rotoli, M; Posteraro, P; Zambruno, G; Amerio, P
      Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency

      DERMATOLOGY
    3. Ruggieri, V; Lubieniecki, F; Meli, F; Diaz, D; Ferragut, E; Saito, K; Brockington, M; Muntoni, F; Fukuyama, Y; Taratuto, AL
      Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings

      NEUROMUSCULAR DISORDERS
    4. Ishiguro, Y; Kajita, M; Aoshima, T; Watanabe, K; Kimura, M; Yamaguchi, S
      The first case of 4-hydroxybutyric aciduria in Japan

      BRAIN & DEVELOPMENT
    5. Joyce, CA; Dennis, NR; Cooper, S; Browne, CE
      Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH

      HUMAN GENETICS
    6. Finelli, P; Giardino, D; Russo, S; Gottardi, G; Cogliati, F; Grugni, G; Natacci, F; Larizza, L
      Refilled FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Dawson, AJ; Konkin, D; Riordan, D; Chudley, AE
      Mosaic trisomy of a small r(1) with an abnormal phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Tzen, CY; Tsai, JD; Wu, TY; Chen, BF; Chen, ML; Lin, SP; Chen, SC
      Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

      KIDNEY INTERNATIONAL
    9. Jones, KJ; Morgan, G; Johnston, H; Tobias, V; Ouvrier, RA; Wilkinson, I; North, KN
      The expanding phenotype of laminin alpha 2 chain (merosin) abnormalities: case series and review

      JOURNAL OF MEDICAL GENETICS
    10. Strange, RC; Spiteri, M; Ramachandran, S; Fryer, AA
      How important are GST polymorphisms in defining clinical phenotypes: some answers from studies in high-risk groups

      CHEMICO-BIOLOGICAL INTERACTIONS
    11. Di Blasi, C; He, Y; Morandi, L; Cornelio, F; Guicheney, P; Mora, M
      Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping

      BRAIN
    12. Bertolini, S; Cantafora, A; Averna, M; Cortese, C; Motti, C; Martini, S; Pes, G; Postiglione, A; Stefanutti, C; Blotta, I; Pisciotta, L; Rolleri, M; Langheim, S; Ghisellini, M; Rabbone, I; Calandra, S
      Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    13. Gaustadnes, M; Rudiger, N; Rasmussen, K; Ingerslev, J
      Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T -> C mutation

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    14. Miyagoe-Suzuki, Y; Nakagawa, M; Takeda, S
      Merosin and congenital muscular dystrophy

      MICROSCOPY RESEARCH AND TECHNIQUE
    15. Peier, AM; McIlwain, KL; Kenneson, A; Warren, ST; Paylor, R; Nelson, DL
      (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

      HUMAN MOLECULAR GENETICS
    16. Battaglia, A; Carey, JC; Viskochil, DH; Cederholm, P; Opitz, JM
      Wolf-Hirschhorn syndrome (WHS): a history in pictures

      CLINICAL DYSMORPHOLOGY
    17. Auranen, M; Rapola, J; Pihko, H; Haltia, M; Leivo, I; Soinila, S; Virtanen, I; Kalimo, H; Anderson, LVB; Santavuori, P; Somer, H
      Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease

      NEUROMUSCULAR DISORDERS
    18. Kamperis, K; Siggaard, C; Herlin, T; Nathan, E; Hertz, JM; Rittig, S
      A novel splicing mutation in the V-2 vasopressin receptor

      PEDIATRIC NEPHROLOGY
    19. Bianchi, L; Priori, SG; Napolitano, C; Surewicz, KA; Dennis, AT; Memmi, M; Schwartz, PJ; Brown, AM
      Mechanisms of I-Ks suppression in LQT1 mutants

      AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
    20. Mercuri, E; Sewry, CA; Brown, SC; Brockington, M; Jungbluth, H; DeVile, C; Counsell, S; Manzur, A; Muntoni, F
      Congenital muscular dystrophy with secondary merosin deficiency and normalbrain MRI: A novel entity?

      NEUROPEDIATRICS
    21. Yalcinkaya, C; Gibson, KM; Gunduz, E; Kocer, N; Ficicioglu, C; Kucukercan, I
      MRI findings in succinic semialdehyde dehydrogenase deficiency

      NEUROPEDIATRICS
    22. Herrmann, FH; Wulff, K; Auberger, K; Aumann, V; Bergmann, F; Bergmann, K; Bratanoff, E; Franke, D; Grundeis, M; Kreuz, W; Lenk, H; Losonczy, H; Maak, B; Marx, G; Mauz-Korholz, C; Pollmann, H; Serban, M; Sutor, A; Syrbe, G; Vogel, G; Weinstock, N; Wenzel, E; Wolf, K
      Molecular biology and clinical manifestation of hereditary factor VII deficiency

      SEMINARS IN THROMBOSIS AND HEMOSTASIS
    23. Allroggen, H; Dennis, G; Abbott, RJ; Pye, IF
      New variant Creutzfeldt-Jakob disease: three case reports from Leicestershire

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    24. Harman, KE; Gratian, MJ; Bhogal, BS; Challacombe, SJ; Black, MM
      A study of desmoglein 1 autoantibodies in pemphigus vulgaris: racial differences in frequency and the association with a more severe phenotype

      BRITISH JOURNAL OF DERMATOLOGY
    25. Naom, I; D'Alessandro, M; Sewry, CA; Jardine, P; Ferlini, A; Moss, T; Dubowitz, J; Muntoni, F
      Mutations in the laminin alpha 2-chain gene in two children with early-onset muscular dystrophy

      BRAIN
    26. Philpot, J; Cowan, F; Pennock, J; Sewry, C; Dubowitz, V; Bydder, G; Muntoni, F
      Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

      NEUROMUSCULAR DISORDERS
    27. Villani, GRD; Balzano, N; Vitale, D; Saviano, M; Pavone, V; Di Natale, P
      Maroteaux-Lamy syndrome: five novel mutations and their structural localization

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    28. Baethmann, M; Voit, T
      New knowledge on neurometabolic diseases in childhood

      AKTUELLE NEUROLOGIE
    29. Chen, JY; Hong, CJ; Chiu, HJ; Lin, CY; Bai, YM; Song, HL; Lai, HC; Tsai, SJ
      Apolipoprotein E genotype and schizophrenia

      NEUROPSYCHOBIOLOGY
    30. Tome, FMS
      The saga of congenital muscular dystrophy

      NEUROPEDIATRICS
    31. Giardino, D; Bettio, D; Gottardi, G; Rizzi, N; Pierluigi, M; Perfumo, C; Cali, A; Bricarelli, FD; Larizza, L
      FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    32. Zhong, N; Ju, WN; Xu, WM; Ye, LL; Shen, Y; Wu, GY; Chen, SH; Jin, RM; Hu, XF; Yang, AD; Liu, XX; Poon, P; Pang, C; Zheng, Y; Song, L; Zhao, P; Fu, BJ; Gu, HJ; Brown, WT
      Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians

      AMERICAN JOURNAL OF MEDICAL GENETICS
    33. Parvari, R; Mumm, S; Galil, A; Manor, E; Bar-David, Y; Carmi, R
      Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth

      AMERICAN JOURNAL OF MEDICAL GENETICS
    34. Martin, JJ; Van Regemorter, N; Del-Favero, J; Lofgren, A; Van Broeckhoven, C
      Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    35. Norman, D; Sun, XM; Bourbon, M; Knight, BL; Naoumova, RP; Soutar, AK
      Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia

      JOURNAL OF CLINICAL INVESTIGATION
    36. Jensen, HK; Jensen, LG; Holst, HU; Andreasen, PH; Hansen, PS; Larsen, ML; Kolvraa, S; Bolund, L; Gregersen, N; Faergeman, O
      Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G -> A splice site mutation in the low-density lipoprotein receptor gene

      CLINICAL GENETICS
    37. NAOM I; DALESSANDRO M; SEWRY CA; PHILPOT J; MANZUR AY; DUBOWITZ V; MUNTONI F
      LAMININ ALPHA-2-CHAIN GENE-MUTATIONS IN 2 SIBLINGS PRESENTING WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    38. SCHUSTER V; PODSKARBI T; OTTENSMEIER H; HAUBNER M; SHIN YS
      SIMULTANEOUS OCCURRENCE OF VARIOUS MUTATIONS AND POLYMORPHISMS IN CISAND IN TRANS OF THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE IN ATURKISH FAMILY WITH CLASSICAL GALACTOSEMIA

      Journal of molecular medicine
    39. MACKAY MT; KORNBERG AJ; SHIELD L; PHELAN E; KEAN MJ; COLEMAN LT; DENNETT X
      CONGENITAL MUSCULAR-DYSTROPHY, WHITE-MATTER ABNORMALITIES, AND NEURONAL MIGRATION DISORDERS - THE EXPANDING CONCEPT

      Journal of child neurology
    40. VOIT T
      CONGENITAL MUSCULAR-DYSTROPHIES - 1997 UPDATE

      Brain & development
    41. GRONSKOV K; HALLBERG A; BRONDUMNIELSEN K
      MUTATIONAL ANALYSIS OF THE FMR1 GENE IN 118 MENTALLY-RETARDED MALES SUSPECTED OF FRAGILE-X-SYNDROME - ABSENCE OF PREVALENT MUTATIONS

      Human genetics
    42. CONWAY GS; PAYNE NN; WEBB J; MURRAY A; JACOBS PA
      FRAGILE-X PREMUTATION SCREENING IN WOMEN WITH PREMATURE OVARIAN FAILURE

      Human reproduction
    43. ORRICO A; GALLI L; DOTTI MT; PLEWNIA K; CENSINI S; FEDERICO A
      MOSAICISM FOR FULL MUTATION AND NORMAL-SIZED ALLELE OF THE FMR1 GENE - A NEW CASE

      American journal of medical genetics
    44. NOWACZYK MJM; BLASER SI; CLARKE JTR
      CENTRAL-NERVOUS-SYSTEM MALFORMATIONS IN ETHYLMALONIC ENCEPHALOPATHY

      American journal of medical genetics
    45. RUSSO S; SELICORNI A; BEDESCHI MF; NATACCI F; VIZIELLO P; FORTUNA R; PAGANI G; DALPRA L; LARIZZA L
      MOLECULAR CHARACTERIZATION OF FRAXE-POSITIVE SUBJECTS WITH MENTAL IMPAIRMENT IN 2 UNRELATED ITALIAN FAMILIES

      American journal of medical genetics
    46. Farina, L; Morandi, L; Milanesi, I; Ciceri, E; Mora, M; Moroni, I; Pantaleoni, C; Savoiardo, M
      Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

      NEURORADIOLOGY
    47. COHN RD; HERRMANN R; SOROKIN L; WEWER UM; VOIT T
      LAMININ ALPHA-2 CHAIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY - VARIABLE EPITOPE EXPRESSION IN SEVERE AND MILD CASES

      Neurology
    48. NOWACZYK MJM; LEHOTAY DC; PLATT BA; FISHER L; TAN R; PHILLIPS H; CLARKE JTR
      ETHYLMALONIC AND METHYLSUCCINIC ACIDURIA IN ETHYLMALONIC ENCEPHALOPATHY ARISE FROM ABNORMAL ISOLEUCINE METABOLISM

      Metabolism, clinical and experimental
    49. JONES KJ; KIM SS; NORTH KN
      ABNORMALITIES OF DYSTROPHIN, THE SARCOGLYCANS, AND LAMININ ALPHA-2 INTHE MUSCULAR-DYSTROPHIES

      Journal of Medical Genetics
    50. GUICHENEY P; VIGNIER N; ZHANG X; HE Y; CRUAUD C; FREY V; HELBLINGLECLERC A; RICHARD P; ESTOURNET B; MERLINI L; TOPALOGLU H; MORA M; HARPEY JP; HAENGGELI CA; BAROIS A; HAINQUE B; SCHWARTZ K; TOME FMS; FARDEAU M; TRYGGVASON K
      PCR BASED MUTATION SCREENING OF THE LAMININ ALPHA-2 CHAIN GENE (LAMA2) - APPLICATION TO PRENATAL-DIAGNOSIS AND SEARCH FOR FOUNDER EFFECTS IN CONGENITAL MUSCULAR-DYSTROPHY

      Journal of Medical Genetics
    51. MALANDRINI A; GALLI L; VILLANOVA M; PALMERI S; PARROTTA E; DEFALCO D; CAPPELLI M; GRIECO GS; RENIERI A; GUAZZI G
      CAG REPEAT EXPANSION IN AN ITALIAN FAMILY WITH SPINOCEREBELLAR ATAXIATYPE-2 (SCA2) - A CLINICAL AND GENETIC-STUDY

      European neurology
    52. HAYASHI Y; XIE J; WEISS RE; POHLENZ J; REFETOFF S
      SELECTIVE PITUITARY RESISTANCE TO THYROID-HORMONE PRODUCED BY EXPRESSION OF A MUTANT THYROID-HORMONE RECEPTOR-BETA GENE IN THE PITUITARY-GLAND OF TRANSGENIC MICE

      Biochemical and biophysical research communications
    53. PONJAVIC V; ABRAHAMSON M; ANDREASSON S; EHINGER B; FEX G
      AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA WITH A RHODOPSIN MUTATION (ARG-135-TRP) - DISEASE PHENOTYPE IN A SWEDISH FAMILY

      Acta ophthalmologica Scandinavica
    54. WANG YC; LIN ML; LIN SJ; LI YC; LI SY
      NOVEL POINT MUTATION WITHIN INTRON-10 OF FMR-1 GENE CAUSING FRAGILE-X-SYNDROME

      Human mutation
    55. MUNKSGAARD L; CHRISTENSEN BE; BRINCKER H; PEDERSEN NT
      CB CC DIFFUSE LYMPHOMA - A DISTINCT SUBTYPE OF NON-HODGKINS-LYMPHOMA - A STUDY OF 1593 PATIENTS FROM A DANISH POPULATION-BASED REGISTRY/

      Annals of oncology
    56. SAFER JD; LANGLOIS MF; COHEN R; MONDEN T; JOHNHOPE D; MADURA J; HOLLENBERG AN; WONDISFORD FE
      ISOFORM VARIABLE ACTION AMONG THYROID-HORMONE RECEPTOR MUTANTS PROVIDES INSIGHT INTO PITUITARY RESISTANCE TO THYROID-HORMONE

      Molecular endocrinology
    57. GARCIASILVA MT; RIBES A; CAMPOS Y; GARAVAGLIA B; ARENAS J
      SYNDROME OF ENCEPHALOPATHY, PETECHIAE, AND ETHYLMALONIC ACIDURIA

      Pediatric neurology
    58. VARRET M; RABES JP; BOILEAU C
      FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .1. LDL RECEPTOR DEFECTS

      MS. Medecine sciences
    59. WOLFF DJ; GUSTASHAW KM; ZURCHER V; KO L; WHITE W; WEISS L; VANDYKE DL; SCHWARTZ S; WILLARD HF
      DELETIONS IN XQ26.3-Q27.3 INCLUDING FMR1 RESULT IN A SEVERE PHENOTYPEIN A MALE AND VARIABLE PHENOTYPES IN FEMALES DEPENDING UPON THE X-INACTIVATION PATTERN

      Human genetics
    60. HAMMOND LS; MACIAS MM; TARLETON JC; PAI GS
      FRAGILE-X-SYNDROME AND DELETIONS IN FMR1 - NEW CASE AND REVIEW OF THELITERATURE

      American journal of medical genetics
    61. HANSEN RS; CANFIELD TK; FJELD AD; MUMM S; LAIRD CD; GARTLER SM
      A VARIABLE DOMAIN OF DELAYED REPLICATION IN FRAXA FRAGILE-X CHROMOSOMES - X INACTIVATION-LIKE SPREAD OF LATE REPLICATION

      Proceedings of the National Academy of Sciences of the United Statesof America
    62. GRONSKOV K; HJALGRIM H; BJERAGER MO; BRONDUMNIELSEN K
      DELETION OF ALL CGG REPEATS PLUS FLANKING SEQUENCES IN FMR1 DOES NOT ABOLISH GENE-EXPRESSION

      American journal of human genetics
    63. HAGERMAN RJ
      FRAGILE-X SYNDROME

      Child and adolescent psychiatric clinics of North America
    64. FELDMAN EJ
      THE RECOGNITION AND INVESTIGATION OF X-LINKED LEARNING-DISABILITY SYNDROMES

      JIDR. Journal of intellectual disability research
    65. TANIYAMA M; KUSANO S; MIYOSHI Y; NAKAMURA H; KAIHARA M; TOBE T; TOMITA M; KATAGIRI T; BAN Y
      MILD RESISTANCE TO THYROID-HORMONE WITH A TRUNCATED THYROID-HORMONE RECEPTOR-BETA

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    66. SCHMUCKER B; BALLHAUSEN WG; PFEIFFER RA
      MOSAICISM OF A MICRODELETION OF 486-BP INVOLVING THE CGG REPEAT OF THE FMR1 GENE DUE TO MISALIGNMENT OF GTT TANDEM REPEATS AT CHI-LIKE ELEMENTS FLANKING BOTH BREAKPOINTS AND A FULL MUTATION

      Human genetics
    67. MANNERMAA A; PULKKINEN L; KAJANOJA E; RYYNANEN M; SAARIKOSKI S
      DELETION IN THE FMR1 GENE IN A FRAGILE-X MALE

      American journal of medical genetics
    68. NOLIN SL; LEWIS FA; YE LL; HOUCK GE; GLICKSMAN AE; LIMPRASERT P; LI SY; ZHONG N; ASHLEY AE; FEINGOLD E; SHERMAN SL; BROWN WT
      FAMILIAL TRANSMISSION OF THE FMR1 CGG REPEAT

      American journal of human genetics
    69. PHOCAS I; CHRYSSIKOPOULOS A; SARANDAKOU A; RIZOS D; TRAKAKIS E
      A CONTRIBUTION TO THE CLASSIFICATION OF CASES OF NONCLASSIC 21-HYDROXYLASE-DEFICIENT CONGENITAL ADRENAL-HYPERPLASIA

      Gynecological endocrinology
    70. LUTSCHG J; MULLER HJ; MALIK NJ
      THE VALUE OF FAMILY INVESTIGATIONS IN NEWLY DETECTED CHARCOT-MARIE-TOOTH DISEASE IN CHILDREN

      European journal of pediatrics
    71. OPITZ JM
      BRACHMANN-DE LANGE SYNDROME - A CONTINUING ENIGMA

      Archives of pediatrics & adolescent medicine
    72. ANGELINI C; FANIN M; PEGORARO E; FREDA MP; CADALDINI M; MARTINELLO F
      CLINICAL-MOLECULAR CORRELATION IN 104 MILD X-LINKED MUSCULAR-DYSTROPHY PATIENTS - CHARACTERIZATION OF SUBCLINICAL PHENOTYPES

      Neuromuscular disorders
    73. IRELAND M; DONNAI D; BURN J
      BRACHMANN-DELANGE SYNDROME - DELINEATION OF THE CLINICAL PHENOTYPE

      American journal of medical genetics


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Documento generato il 03/08/20 alle ore 17:49:37