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La ricerca find articoli where soggetti phrase all words 'RECESSIVE SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 78 riferimenti
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    1. Heikkila, P; Tibell, A; Morita, T; Chen, Y; Wu, G; Sado, Y; Ninomiya, Y; Pettersson, E; Tryggvason, K
      Adenovirus-mediated transfer of type IV collagen alpha 5 chain cDNA into swine kidney in vivo: deposition of the protein into the glomerular basementmembrane

      GENE THERAPY
    2. Al-Shawi, R; Ashton, SV; Underwood, C; Simons, JP
      Expression of the Ror1 and Ror2 receptor tyrosine kinase genes during mouse development

      DEVELOPMENT GENES AND EVOLUTION
    3. Martin, PH; Tryggvason, K
      Two novel alternatively spliced 9-bp exons in the COL4A5 gene

      PEDIATRIC NEPHROLOGY
    4. Matsuda, T; Nomi, M; Ikeya, M; Kani, S; Oishi, I; Terashima, T; Tawada, S; Minami, Y
      Expression of the receptor tyrosine kinase genes, Ror1 and Ror2, during mouse development

      MECHANISMS OF DEVELOPMENT
    5. Majeed, HA; Al-Tarawna, M; El-Shanti, H; Kamel, B; Al-Khalaileh, F
      The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

      EUROPEAN JOURNAL OF PEDIATRICS
    6. Nomi, M; Oishi, I; Kani, S; Suzuki, H; Matsuda, T; Yoda, A; Kitamura, M; Itoh, K; Takeuchi, S; Takeda, K; Akira, S; Ikeya, M; Takada, S; Minami, Y
      Loss of mRor1 enhances the heart and skeletal abnormalities in mRor2-deficient mice: Redundant and pleiotropic functions of mRor1 and mRor2 receptor tyrosine kinases

      MOLECULAR AND CELLULAR BIOLOGY
    7. Zenteno, JC; Jimenez, AL; Canto, P; Valdez, H; Mendez, JP; Kofman-Alfaro, S
      Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Leonardi, ML; Pai, GS; Wilkes, B; Lebel, RR
      Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Batlle, D; Ghanekar, H; Jain, S; Mitra, A
      Hereditary distal renal tubular acidosis: New understandings

      ANNUAL REVIEW OF MEDICINE
    10. Amiel, J; Lyonnet, S
      Hirschsprung disease, associated syndromes, and genetics: a review

      JOURNAL OF MEDICAL GENETICS
    11. Sampson, NS; Ryan, ST; Enke, DA; Cosgrove, D; Koteliansky, V; Gotwals, P
      Global gene expression analysis reveals a role for the alpha(1) integrin in renal pathogenesis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    12. Roszmusz, E; Patthy, A; Trexler, M; Patthy, L
      Localization of disulfide bonds in the frizzled module of Ror1 receptor tyrosine kinase

      JOURNAL OF BIOLOGICAL CHEMISTRY
    13. Segal, Y; Zhuang, LY; Rondeau, E; Sraer, JD; Zhou, J
      Regulation of the paired type IV collagen genes COL4A5 and COL4A6 Role of the proximal promoter region

      JOURNAL OF BIOLOGICAL CHEMISTRY
    14. Klein, BEK; Cruickshanks, KJ; Nondahl, DM; Klein, R; Dalton, DS
      Cataract and hearing loss in a population-based study: The Beaver Dam studies

      AMERICAN JOURNAL OF OPHTHALMOLOGY
    15. Frasca, GM; Onetti-Muda, A; Renieri, A
      Thin glomerular basement membrane disease

      JOURNAL OF NEPHROLOGY
    16. Kaplan, BS; Garcia, CD; Chesney, RW; Segar, WE; Giugno, K; Chem, R
      Peripheral gangrene complicating idiopathic and recessive hemolytic uremicsyndromes

      PEDIATRIC NEPHROLOGY
    17. Huq, AHMM; Nigro, MA
      XY sex reversal and a nonprogressive neurologic disorder: A new syndrome?

      PEDIATRIC NEUROLOGY
    18. Kriegsmann, J; Coerdt, W; Kommoss, F; Beetz, R; Hallermann, C; Muntefering, H
      Renal tubular dysgenesis (RTD) - An important cause of the oligohydramnion-sequence - Report of 3 cases and review of the literature

      PATHOLOGY RESEARCH AND PRACTICE
    19. Hood, JC; Savige, J; Seymour, AE; Dowling, J; Martinello, P; Colville, D; Sinclair, R; Naito, I; Jennings, G; Huxtable, C
      Ultrastructural appearance of renal and other basement membranes in the bull terrier model of autosomal dominant hereditary nephritis

      AMERICAN JOURNAL OF KIDNEY DISEASES
    20. Tseng, CJ; Lalwani, AK
      Cracking the auditory genetic code: Part II. Syndromic hereditary hearing impairment

      AMERICAN JOURNAL OF OTOLOGY
    21. Manouvrier-Hanu, S; Besson, R; Cousin, L; Jeanpierre, C; Kacet, N; Cartigny, M; Devisme, L; Storme, L; De Martinville, B; Lequien, P
      Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes

      JOURNAL OF MEDICAL GENETICS
    22. Parkkila, S; Parkkila, AK; Saarnio, J; Kivela, J; Karttunen, TJ; Kaunisto, K; Waheed, A; Sly, WS; Tureci, O; Virtanen, I; Rajaniemi, H
      Expression of the membrane-associated carbonic anhydrase isozyme XII in the human kidney and renal tumors

      JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
    23. Sarafoglou, K; Ostrer, H
      Familial sex reversal: A review

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    24. Boutaud, A; Borza, DB; Bondar, O; Gunwar, S; Netzer, KO; Singh, N; Ninomiya, Y; Sado, Y; Noelken, ME; Hudson, BG
      Type IV collagen of the glomerular basement membrane - Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains

      JOURNAL OF BIOLOGICAL CHEMISTRY
    25. Miner, JH; Li, C
      Defective glomerulogenesis in the absence of laminin alpha 5 demonstrates a developmental role for the kidney glomerular basement membrane

      DEVELOPMENTAL BIOLOGY
    26. Lees, GE; Kashtan, CE; Michael, AF; Helman, RG; Naito, I; Ninomiya, Y; Sado, Y; Kim, Y
      Expression of the alpha 6 chain of type IV collagen in glomerular basementmembranes of healthy adult dogs

      AMERICAN JOURNAL OF VETERINARY RESEARCH
    27. Oberg, KC; Pestaner, JP; Bielamowicz, L; Hawkins, EP
      Renal tubular dysgenesis in twin-twin transfusion syndrome

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    28. Larsen, LA; Fosdal, I; Andersen, PS; Kanters, JK; Vuust, J; Wettrell, G; Christiansen, M
      Recessive Romano-Ward syndrome associated with compound heterozygosity fortwo mutations in the KVLQT1 gene

      EUROPEAN JOURNAL OF HUMAN GENETICS
    29. Ehara, H; Tamaoki, Y; Eda, I
      A case in the spectrum of the oculo-encephalo-hepato-renal syndrome

      PEDIATRIC NEUROLOGY
    30. Piccini, M; Casari, G; Zhou, JH; Bruttini, M; Li Volti, S; Ballabio, A; Renieri, A
      Evidence for genetic heterogeneity in benign familial hematuria

      AMERICAN JOURNAL OF NEPHROLOGY
    31. Cohen, MM
      Robin sequences and complexes: Causal heterogeneity and pathogenetic/phenotypic variability

      AMERICAN JOURNAL OF MEDICAL GENETICS
    32. Brubaker, KD; Mao, F; Gay, CV
      Localization of carbonic anhydrase in living osteoclasts with Bodipy 558/568-modified acetazolamide, a thiadiazole carbonic anhydrase inhibitor

      JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
    33. Muller, U; Brandli, AW
      Cell adhesion molecules and extracellular-matrix constituents in kidney development and disease

      JOURNAL OF CELL SCIENCE
    34. Lees, GE; Helman, RG; Kashtan, CE; Michael, AF; Homco, LD; Millichamp, NJ; Camacho, ZT; Templeton, JW; Ninomiya, Y; Sado, Y; Naito, I; Kim, Y
      New form of X-linked dominant hereditary nephritis in dogs

      AMERICAN JOURNAL OF VETERINARY RESEARCH
    35. Plenge, RM; Tranebjaerg, L; Jensen, PKA; Schwartz, C; Willard, HF
      Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

      AMERICAN JOURNAL OF HUMAN GENETICS
    36. JOHAL JS; THORP JW; OYER CE
      NEONATAL HEMOCHROMATOSIS, RENAL TUBULAR DYSGENESIS, AND HYPOCALVARIA IN A NEONATE

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    37. NISHIMURA G; KUROSAWA K; KOBAYASHI H; KAWAME H
      OSTEOGENESIS IMPERFECTA-LIKE SYNDROME WITH SEVERE MENTAL-RETARDATION AND EXTRAPYRAMIDAL TRACT SIGNS

      Pediatric radiology
    38. Milord, R; Rennke, HG
      A 46-year-old woman with nephrotic syndrome and persistent microscopic hematuria

      AMERICAN JOURNAL OF KIDNEY DISEASES
    39. GOODYER P; KASHTAN C
      THE GENETIC-BASIS OF PEDIATRIC RENAL-DISEASE

      Seminars in nephrology
    40. ENNS GM; COX VA; GOLDSTEIN RB; GIBBS DL; HARRISON MR; GOLABI M
      CONGENITAL DIAPHRAGMATIC DEFECTS AND ASSOCIATED SYNDROMES, MALFORMATIONS, AND CHROMOSOME-ANOMALIES - A RETROSPECTIVE STUDY OF 60 PATIENTS AND LITERATURE-REVIEW

      American journal of medical genetics
    41. Hisama, FM; Reyes-Mugica, M; Wargowski, DS; Thompson, KJ; Mahoney, MJ
      Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    42. VRIESMAN PJCV
      THIN GLOMERULAR-BASEMENT-MEMBRANE NEPHROPATHY IN ADULTS

      Nephron
    43. GIBSON IW; MORE IAR
      GLOMERULAR PATHOLOGY - RECENT ADVANCES

      Journal of pathology
    44. SADO Y; KAGAWA M; NAITO I; UEKI Y; SEKI T; MOMOTA R; OOHASHI T; NINOMIYA Y
      ORGANIZATION AND EXPRESSION OF BASEMENT-MEMBRANE COLLAGEN-IV GENES AND THEIR ROLES IN HUMAN DISORDERS

      Journal of Biochemistry
    45. SARIOGLU A; TANYEL FC; BUYUKPAMUKCU N; HICSONMEZ A
      HIRSCHSPRUNG-ASSOCIATED CONGENITAL-ANOMALIES

      European journal of pediatric surgery
    46. MILUNSKY JM; GENEST DR; MILUNSKY A
      RENAL TUBULAR DYSGENESIS WITH MICROCEPHALY

      Pediatric nephrology
    47. FATHALLAH DM; BEJAOUI M; LEPASLIER D; CHATER K; SLY WS; DELLAGI K
      CARBONIC-ANHYDRASE-II (CA-II) DEFICIENCY IN MAGHREBIAN PATIENTS - EVIDENCE FOR FOUNDER EFFECT AND GENOMIC RECOMBINATION AT THE CA-II LOCUS

      Human genetics
    48. ISMAIL EAR; SAAD SA; SABRY MA
      NEPHROCALCINOSIS AND UROLITHIASIS IN CARBONIC-ANHYDRASE-II DEFICIENCYSYNDROME

      European journal of pediatrics
    49. KENNERKNECHT I; MATTFELDT T; PAULUS W; NITSCH C; NEGRI G; BARBI G; JUST W; SCHWEMMLE S; VOGEL W
      XX-AGONADISM IN A FETUS WITH MULTIPLE DYSRAPHIC LESIONS - A NEW SYNDROME

      American journal of medical genetics
    50. CHITAYAT D; TOI A; BABUL R; BLASER S; MOOLA S; YARKONI D; SERMER M; JOHNSON JA; VASJAR J; TESHIMA I
      OMPHALOCELE IN MILLER-DIEKER SYNDROME - EXPANDING THE PHENOTYPE

      American journal of medical genetics
    51. NOWACZYK MJM; JAMES AG; SUPERINA R; SIEGELBARTELT J
      HIRSCHSPRUNG DISEASE, POSTAXIAL POLYDACTYLY, AND ATRIAL SEPTAL-DEFECT

      American journal of medical genetics
    52. COHEN MM
      NEED FOR VELOPHARYNGEAL MANAGEMENT FOLLOWING PALATOPLASTY - AN OUTCOME ANALYSIS OF SYNDROMIC AND NONSYNDROMIC PATIENTS WITH ROBIN-SEQUENCE - DISCUSSION

      Plastic and reconstructive surgery
    53. MCFADDEN DE; PANTZAR JT; VANALLEN MI; LANGLOIS S
      RENAL TUBULAR DYSGENESIS WITH CALVARIAL HYPOPLASIA - REPORT OF 2 ADDITIONAL CASES AND REVIEW

      Journal of Medical Genetics
    54. NAITO I; NOMURA S; INOUE S; KAGAWA M; KAWAI S; GUNSHIN Y; JOH K; TSUKIDATE C; SADO Y; OSAWA G
      NORMAL-DISTRIBUTION OF COLLAGEN-IV IN RENAL BASEMENT-MEMBRANES IN EPSTEINS-SYNDROME

      Journal of Clinical Pathology
    55. GRAHAM PL; JOHNSON JJ; WANG SR; SIBLEY MH; GUPTA MC; KRAMER JM
      TYPE-IV COLLAGEN IS DETECTABLE IN MOST, BUT NOT ALL, BASEMENT-MEMBRANES OF CAENORHABDITIS-ELEGANS AND ASSEMBLES ON TISSUES THAT DO NOT EXPRESS IT

      The Journal of cell biology
    56. GUPTA MC; GRAHAM PL; KRAMER JM
      CHARACTERIZATION OF ALPHA-1(IV) COLLAGEN MUTATIONS IN CAENORHABDITIS-ELEGANS AND THE EFFECTS OF ALPHA-1 AND ALPHA-2(IV) MUTATIONS ON TYPE-IV COLLAGEN DISTRIBUTION

      The Journal of cell biology
    57. KAHSAI TZ; ENDERS GC; GUNWAR S; BRUNMARK C; WIESLANDER J; KALLURI R; ZHOU J; NOELKEN ME; HUDSON BG
      SEMINIFEROUS TUBULE BASEMENT-MEMBRANE - COMPOSITION AND ORGANIZATION OF TYPE-IV COLLAGEN CHAINS, AND THE LINKAGE OF ALPHA-3(IV) AND ALPHA-5(IV) CHAINS

      The Journal of biological chemistry
    58. BAIRD TT; WAHEED A; OKUYAMA T; SLY WS; FIERKE CA
      CATALYSIS AND INHIBITION OF HUMAN CARBONIC-ANHYDRASE-IV

      Biochemistry
    59. SMEETS HJM; KNOERS VVAM; VANDEHEUVEL LPWJ; LEMMINK HH; SCHRODER CH; MONNENS LAH
      HEREDITARY DISORDERS OF THE GLOMERULAR-BASEMENT-MEMBRANE

      Pediatric nephrology
    60. LEMMINK HH; VANDENHEUVEL LPWJ; VANDIJK HA; MERKX GFM; SMILDE TJ; TASCHNER PEM; MONNENS LAH; HEBERT SC; KNOERS NVAM
      LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES

      Pediatric nephrology
    61. COSGROVE D; SAMUELSON G; PINNT J
      IMMUNOHISTOCHEMICAL LOCALIZATION OF BASEMENT-MEMBRANE COLLAGENS AND ASSOCIATED PROTEINS IN THE MURINE COCHLEA

      Hearing research
    62. COSGROVE D; KORNAK JM; SAMUELSON G
      EXPRESSION OF BASEMENT-MEMBRANE TYPE-IV COLLAGEN CHAINS DURING POSTNATAL-DEVELOPMENT IN THE MURINE COCHLEA

      Hearing research
    63. LASKI ME; KURTZMAN NA
      THE RENAL ADENOSINE TRIPHOSPHATASES - FUNCTIONAL-INTEGRATION AND CLINICAL-SIGNIFICANCE

      Mineral and electrolyte metabolism
    64. SAY B; SMITH DP
      MIDLINE FIELD DEFECTS AND HIRSCHSPRUNG DISEASE

      American journal of medical genetics
    65. STAMS T; NAIR SK; OKUYAMA T; WAHEED A; SLY WS; CHRISTIANSON DW
      CRYSTAL-STRUCTURE OF THE SECRETORY FORM OF MEMBRANE-ASSOCIATED HUMAN CARBONIC-ANHYDRASE-IV AT 2.8-ANGSTROM RESOLUTION

      Proceedings of the National Academy of Sciences of the United Statesof America
    66. LEMMINK HH; NILLESEN WN; MOCHIZUKI T; SCHRODER CH; BRUNNER HG; VANOOST BA; MONNENS LAH; SMEETS HJM
      BENIGN FAMILIAL HEMATURIA DUE TO MUTATION OF THE TYPE-IV COLLAGEN ALPHA-4 GENE

      The Journal of clinical investigation
    67. ORTMANN M; QUERFELD U; STOLLORZ M; SCHRODER R
      RENAL TUBULAR DYSGENESIS ASSOCIATED WITH RENAL-VEIN THROMBOSIS

      Der Pathologe
    68. ANTICH J; MANZANARES R; CAMARASA F; KRAUEL X; VILA J; CUSI V
      SCHINZEL-GIEDION-SYNDROME - REPORT OF 2 SIBS

      American journal of medical genetics
    69. BUSHINSKY DA; MADIAS NE; HARRINGTON JT; KING A; LEMAY S; PARKER M
      THE CONTRIBUTION OF ACIDOSIS TO RENAL OSTEODYSTROPHY - DISCUSSION

      Kidney international
    70. GUBLER MC; LACOSTE M; GUICHARNAUD L; MOUNIER F
      RENAL TUBULAR DYSGENESIS AND THE RENIN-AN GIOTENSIN SYSTEM

      Annales de pediatrie
    71. EIAMONG S; LASKI ME; KURTZMAN NA
      DISEASES OF RENAL ADENOSINE-TRIPHOSPHATASE

      The American journal of the medical sciences
    72. BERNSTEIN J; BARAJAS L
      RENAL TUBULAR DYSGENESIS - EVIDENCE OF ABNORMALITY IN THE RENIN-ANGIOTENSIN SYSTEM

      Journal of the American Society of Nephrology
    73. BIESECKER LG; ERICKSON RP; TASHIAN RE
      BONE-MARROW TRANSPLANTATION DEMONSTRATES THAT CARBONIC-ANHYDRASE-II DEFICIENCY LIMITED TO BONE-MARROW-DERIVED CELLS AFFECTS AMMONIUM-CHLORIDE TOLERANCE IN MICE

      Biochemical medicine and metabolic biology
    74. KOTZOT D; RICHTER K; GIERTHFIEBIG K
      OCULOCUTANEOUS ALBINISM, IMMUNODEFICIENCY, HEMATOLOGICAL DISORDERS, AND MINOR ANOMALIES - A NEW AUTOSOMAL RECESSIVE SYNDROME

      American journal of medical genetics
    75. MARTINEZFRIAS ML; BERMEJO E; OTERO TS; URIOSTE M; MORENA V; CRUZ E
      NEW SYNDROME - SCLEROCORNEA, HYPERTELORISM, SYNDACTYLY, AND AMBIGUOUSGENITALIA

      American journal of medical genetics
    76. OBERLECHNER E; SEIDEL H; SCHRAMM T; REHDER H; GULLOTTA F; STECHELE F; HOGEL B; ROTHEMUND E; FICHTEL G
      FETAL AKINESIA-HYPOKINESIA SEQUENCE (PENA -SHOKEIR PHENOTYPE)

      Geburtshilfe und Frauenheilkunde
    77. ARAMAKI S; YOSHIDA I; YOSHINO M; KONDO M; SATO Y; NODA K; OKUE A; SAI N; YAMASHITA F; JO R
      CARBONIC-ANHYDRASE-II DEFICIENCY IN 3 UNRELATED JAPANESE PATIENTS

      Journal of inherited metabolic disease
    78. WHYTE MP
      CARBONIC ANHYDRASE-II DEFICIENCY

      Clinical orthopaedics and related research


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Documento generato il 22/10/20 alle ore 00:29:59