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    1. John, MR; Bosel, J; Breit, S; Wickert, H; Ziegler, R; Blind, E
      Changing serine-485 to alanine in the opossun parathyroid hormone (PTH)/PTH-related peptide receptor enhances PTH stimulation of phospholipase C in astably transfected human kidney cell line: A useful model for PTH-analog screening?

      BONE
    2. Karaplis, AC
      PTHrP: Novel roles in skeletal biology

      CURRENT PHARMACEUTICAL DESIGN
    3. Bateman, JF
      The molecular genetics of inherited cartilage disease

      OSTEOARTHRITIS AND CARTILAGE
    4. Bahrami, S; Plate, U; Dreier, R; DuChesne, A; Willital, GH; Bruckner, P
      Endochondral ossification of costal cartilage is arrested after chondrocytes have reached hypertrophic stage of late differentiation

      MATRIX BIOLOGY
    5. Ferrari, SL; Bisello, A
      Cellular distribution of constitutively active mutant parathyroid hormone (PTH)/PTH-related protein receptors and regulation of cyclic adenosine 3 ',5 '-monophosphate signaling by beta-arrestin2

      MOLECULAR ENDOCRINOLOGY
    6. Kanatani, M; Sugimoto, T; Kaji, H; Ikeda, K; Chihara, K
      Skeletal responsiveness to parathyroid hormone in pseudohypoparathyroidism

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    7. Rolz, C; Mierke, DF
      Characterization of the molecular motions of constitutively active G protein-coupled receptors for parathyroid hormone

      BIOPHYSICAL CHEMISTRY
    8. Nishimura, G; Manabe, N; Kosaki, K; Haga, N; Ohashi, H; Nakamura, K; Ikegawa, S
      Spondylar dysplasia in type X collagenopathy

      PEDIATRIC RADIOLOGY
    9. Huang, WD; Chung, U; Kronenberg, HM; de Crombrugghe, B
      The chondrogenic transcription factor Sox9 is a target of signaling by theparathyroid hormone-related peptide in the growth plate of endochondral bones

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    10. Lee, EJ; Kotlar, TJ; Ciric, I; Lee, MK; Lim, SK; Lee, HC; Huh, KB; Mayo, KE; Jameson, JL
      Absence of constitutively activating mutations in the GHRH receptor in GH-Producing pituitary tumors

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    11. Wysolmerski, JJ; Cormier, S; Philbrick, WM; Dann, P; Zhang, JP; Roume, J; Delezoide, AL; Silve, C
      Absence of functional type 1 parathyroid hormone (PTH)/PTH-related proteinreceptors in humans is associated with abnormal breast development and tooth impaction

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    12. Gensure, RC; Carter, PH; Petroni, BD; Juppner, H; Gardella, TJ
      Identification of determinants of inverse agonism in a constitutively active parathyroid hormone/parathyroid hormone-related peptide receptor by photoaffinity cross-linking and mutational analysis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    13. Wang, DS; Canaff, L; Davidson, D; Corluka, A; Liu, HL; Hendy, GN; Henderson, JE
      Alterations in the sensing and transport of phosphate and calcium by differentiating chondrocytes

      JOURNAL OF BIOLOGICAL CHEMISTRY
    14. Carter, PH; Petroni, BD; Gensure, RC; Schipani, E; Potts, JT; Gardella, TJ
      Selective and nonselective inverse agonists for constitutively active type-1 parathyroid hormone receptors: Evidence for altered receptor conformations

      ENDOCRINOLOGY
    15. Guo, J; Lanske, B; Liu, BY; Divieti, P; Kronenberg, HM; Bringhurst, FR
      Signal-selectivity of parathyroid hormone (PTH)/PTH-related peptide receptor-mediated regulation of differentiation in conditionally immortalized growth-plate chondrocytes

      ENDOCRINOLOGY
    16. Soegiarto, DW; Kiachopoulos, S; Schipani, E; Juppner, H; Erben, RG; Lanske, B
      Partial rescue of PTH/PTHrP receptor knockout mice by targeted expression of the Jansen transgene

      ENDOCRINOLOGY
    17. Makitie, O; Pukkala, E; Kaitila, I
      Increased mortality in cartilage-hair hypoplasia

      ARCHIVES OF DISEASE IN CHILDHOOD
    18. Jacenko, O; Chan, D; Franklin, A; Ito, S; Underhill, CB; Bateman, JF; Campbell, MR
      A dominant interference collagen X mutation disrupts hypertrophic chondrocyte pericellular matrix and glycosaminoglycan and proteoglycan distributionin transgenic mice

      AMERICAN JOURNAL OF PATHOLOGY
    19. Matsui, Y; Yasui, N; Kawabata, H; Ozono, K; Nakata, K; Mizushima, T; Tsumaki, N; Kataoka, E; Fujita, Y; Ochi, T
      A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia

      JOURNAL OF HUMAN GENETICS
    20. Olsen, BR; Reginato, AM; Wang, WF
      Bone development

      ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY
    21. Chung, UI; Kronenberg, HM
      Parathyroid hormone-related peptide and Indian hedgehog

      CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
    22. Kerr, B; Smith, V; Patel, R; Ladusans, E; Sillence, DO
      Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings

      CLINICAL DYSMORPHOLOGY
    23. Oostra, RJ; van der Harten, HJ; Rijnders, WPHA; Scott, RJ; Young, MPA; Trump, D
      Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    24. Colombatti, A; Doliana, E; Bot, S; Canton, A; Mongiat, M; Mungiguerra, G; Paron-Cilli, S; Spessotto, P
      The EMILIN protein family

      MATRIX BIOLOGY
    25. Nielsen, VH; Bendixen, C; Arnbjerg, J; Sorensen, CM; Jensen, HE; Shukri, NM; Thomsen, B
      Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen

      MAMMALIAN GENOME
    26. Juppner, H
      Role of parathyroid hormone-related peptide and Indian hedgehog in skeletal development

      PEDIATRIC NEPHROLOGY
    27. Turner, PR; Mefford, S; Christakos, S; Nissenson, RA
      Apoptosis mediated by activation of the G protein-coupled receptor for parathyroid hormone (PTH)/PTH-related protein (PTHrP)

      MOLECULAR ENDOCRINOLOGY
    28. Campbell, JB; Kozlowski, K; Lejman, T; Sulko, J
      Jansen type of spondylometaphyseal dysplasia

      SKELETAL RADIOLOGY
    29. Kumar, R; Sood, A; Marwah, A; Sharma, R; Padhy, AK; Moorthy, D
      Metaphyseal chondrodysplasia interesting findings on bone scintigraphy.

      CLINICAL NUCLEAR MEDICINE
    30. Baric, I; Skrabic, V; Begovic, D; Sarnavka, V; Superti-Furga, A
      A 17-month-old boy with bowed legs

      EUROPEAN JOURNAL OF PEDIATRICS
    31. Baitner, AC; Maurer, SG; Gruen, MB; Di Cesare, PE
      The genetic basis of the osteochondrodysplasias

      JOURNAL OF PEDIATRIC ORTHOPAEDICS
    32. Cohen, MM
      Merging the old skeletal biology with the new. II. Molecular aspects of bone formation and bone growth

      JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY
    33. Wagner, K; Poschl, E; Turnay, J; Baik, J; Pihlajaniemi, T; Frischholz, S; von der Mark, K
      Coexpression of alpha and beta subunits of prolyl 4-hydroxylase stabilizesthe triple helix of recombinant human type X collagen

      BIOCHEMICAL JOURNAL
    34. Amizuka, N; Henderson, JE; White, JH; Karaplis, AC; Goltzman, D; Sasaki, T; Ozawa, H
      Recent studies on the biological action of parathyroid hormone (PTH)-related peptide (PTHrP) and PTH/PTHrP receptor in cartilage and bone

      HISTOLOGY AND HISTOPATHOLOGY
    35. Iughetti, P; Alonso, LG; Wilcox, W; Alonso, N; Passos-Bueno, MR
      Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    36. Koutouby, A; Habibullah, J; Moinuddin, FA
      Spondylometaphyseal dysplasia: Sedaghatian type

      AMERICAN JOURNAL OF MEDICAL GENETICS
    37. Nielsen, SM; Nielsen, LZ; Hjorth, SA; Perrin, MH; Vale, WW
      Constitutive activation of tethered-peptide/corticotropin-releasing factorreceptor chimeras

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    38. Gress, CJ; Jacenko, O
      Growth plate compressions and altered hematopoiesis in collagen X null mice

      JOURNAL OF CELL BIOLOGY
    39. 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
    40. Mongiat, M; Mungiguerra, G; Bot, S; Mucignat, MT; Giacomello, E; Doliana, R; Colombatti, A
      Self-assembly and supramolecular organization of EMILIN

      JOURNAL OF BIOLOGICAL CHEMISTRY
    41. Byers, PH
      Collagens: building blocks at the end of the development line

      CLINICAL GENETICS
    42. Olsen, BR
      Genetic regulation of skeletal patterning, differentiation, and growth

      BONE
    43. Juppner, H
      Receptors for parathyroid hormone and parathyroid hormone-related peptide:Exploration of their biological importance

      BONE
    44. St-Jacques, B; Hammerschmidt, M; McMahon, AP
      Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

      GENES & DEVELOPMENT
    45. van der Rest, M; Dublet, B; Labourdette, L; Ricard-Blum, S
      Mechanisms of collagen trimer assembly

      PROCEEDINGS OF THE INDIAN ACADEMY OF SCIENCES-CHEMICAL SCIENCES
    46. Karperien, M; van der Harten, HJ; van Schooten, R; Farih-Sips, H; den Hollander, NS; Kneppers, SLJ; Nijweide, P; Papapoulos, SE; Lowik, CWGM
      A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-relatedpeptide receptor causing blomstrand lethal osteochondrodysplasia

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    47. Rubin, DA; Hellman, P; Zon, LI; Lobb, CJ; Bergwitz, C; Juppner, H
      A G protein-coupled receptor from zebrafish is activated by human parathyroid hormone and not by human or teleost parathyroid hormone-related peptide- Implications for the evolutionary conservation of calcium-regulating peptide hormones

      JOURNAL OF BIOLOGICAL CHEMISTRY
    48. Zhang, Y; Chen, QA
      The noncollagenous domain 1 of type X collagen - A novel motif for trimer and higher order multimer formation without a triple helix

      JOURNAL OF BIOLOGICAL CHEMISTRY
    49. Rolz, C; Pellegrini, M; Mierke, DF
      Molecular characterization of the receptor-ligand complex for parathyroid hormone

      BIOCHEMISTRY
    50. Gaudin, P; Couvineau, A; Rouyer-Fessard, C; Maoret, JJ; Laburthe, M
      The human vasoactive intestinal peptide pituitary adenylate cyclase activating peptide receptor 1 (VPAC1): Constitutive activation by mutations at threonine 343

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    51. Windrum, P; Wright, GD; Finch, MB
      An unusual cause of atlanto-axial subluxation

      ANNALS OF THE RHEUMATIC DISEASES
    52. Sawai, H; Ida, A; Nakata, Y; Koyama, K
      Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia

      JOURNAL OF HUMAN GENETICS
    53. HORN F; BYWATER R; KRAUSE G; KUIPERS W; OLIVEIRA L; PAIVA ACM; SANDER C; VRIEND G
      THE INTERACTION OF CLASS-B G-PROTEIN-COUPLED RECEPTORS WITH THEIR HORMONES

      Receptors & channels
    54. KORKKO J; MILUNSKY J; PROCKOP DJ; ALAKOKKO L
      USE OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS TO DETECT SINGLE-BASE CHANGES IN THE GENE FOR COL10A1

      Human mutation
    55. MILUNSKY J; MAHER T; LEBO R; MILUNSKY A
      PRENATAL-DIAGNOSIS FOR SCHMID METAPHYSEAL CHONDRODYSPLASIA IN TWINS

      Fetal diagnosis and therapy
    56. BRUCKNERTUDERMAN L; BRUCKNER P
      GENETIC-DISEASES OF THE EXTRACELLULAR-MATRIX - MORE THAN JUST CONNECTIVE-TISSUE DISORDER

      Journal of molecular medicine
    57. ASZODI A; PFEIFER A; WENDEL M; HIRIPI L; FASSLER R
      MOUSE MODELS FOR EXTRACELLULAR-MATRIX DISEASES

      Journal of molecular medicine
    58. CHAN D; JACENKO O
      PHENOTYPIC AND BIOCHEMICAL CONSEQUENCES OF COLLAGEN-X MUTATIONS IN MICE AND HUMANS

      Matrix biology
    59. David, L
      Activating mutations of the receptors of parathyroid hormone and parathyroid hormone related peptide.

      ARCHIVES DE PEDIATRIE
    60. HJORTH SA; ORSKOV C; SCHWARTZ TW
      CONSTITUTIVE ACTIVITY OF GLUCAGON RECEPTOR MUTANTS

      Molecular endocrinology
    61. MAKITIE O; KAITILA I; SAVILAHTI E
      SUSCEPTIBILITY TO INFECTIONS AND IN-VITRO IMMUNE FUNCTIONS IN CARTILAGE-HAIR HYPOPLASIA

      European journal of pediatrics
    62. KARSENTY G
      GENETICS OF SKELETOGENESIS

      Developmental genetics
    63. OSEBOLD WR; POZNANSKI AK; OPITZ JM; LANGER LO; SPRANGER JW; UNNI KK
      PREVIOUSLY UNDESCRIBED SYNDROME OF SPONDYLOMETAPHYSEAL DYSPLASIA, OSTEOCARTILAGINOUS METAPLASIA OF LONG BONES, AND PROGRESSIVE OSTEOLYSIS OF DISTAL PHALANGES

      American journal of medical genetics
    64. ELCIOGLU N; HALL CM
      SPONDYLOMETAPHYSEAL DYSPLASIA SEDAGHATIAN TYPE

      American journal of medical genetics
    65. WYSOLMERSKI JJ; STEWART AF
      THE PHYSIOLOGY OF PARATHYROID HORMONE-RELATED PROTEIN - AN EMERGING ROLE AS A DEVELOPMENTAL FACTOR

      Annual review of physiology
    66. GANGULI SC; PARK CG; HOLTMANN MH; HADAC EM; KENAKIN TP; MILLER LJ
      PROTEAN EFFECTS OF A NATURAL PEPTIDE AGONIST OF THE G-PROTEIN-COUPLEDSECRETIN RECEPTOR DEMONSTRATED BY RECEPTOR MUTAGENESIS

      The Journal of pharmacology and experimental therapeutics
    67. BETTOUN JD; MINAGAWA M; HENDY GN; ALPERT LC; GOODYER CG; GOLTZMAN D; WHITE JH
      DEVELOPMENTAL UP-REGULATION OF HUMAN PARATHYROID-HORMONE (PTH) PTH-RELATED PEPTIDE RECEPTOR GENE-EXPRESSION FROM CONSERVED AND HUMAN-SPECIFIC PROMOTERS

      The Journal of clinical investigation
    68. JOBERT AS; ZHANG P; COUVINEAU A; BONAVENTURE J; ROUME J; LEMERRER M; SILVE C
      ABSENCE OF FUNCTIONAL RECEPTORS FOR PARATHYROID-HORMONE AND PARATHYROID HORMONE-RELATED PEPTIDE IN BLOMSTRAND CHONDRODYSPLASIA

      The Journal of clinical investigation
    69. ZHANG P; JOBERT AS; COUVINEAU A; SILVE C
      HOMOZYGOUS INACTIVATING MUTATION IN THE PARATHYROID-HORMONE PARATHYROID HORMONE-RELATED PEPTIDE RECEPTOR CAUSING BLOMSTRAND CHONDRODYSPLASIA

      The Journal of clinical endocrinology and metabolism
    70. FRISCHHOLZ S; BEIER F; GIRKONTAITE I; WAGNER K; POSCHL E; TURNAY J; MAYER U; VONDERMARK K
      CHARACTERIZATION OF HUMAN TYPE-X PROCOLLAGEN AND ITS NC-1 DOMAIN EXPRESSED AS RECOMBINANT PROTEINS IN HEK293 CELLS

      The Journal of biological chemistry
    71. NISSENSON RA
      EDITORIAL - PARATHYROID-HORMONE (PTH) PTHRP RECEPTOR MUTATIONS IN HUMAN CHONDRODYSPLASIA/

      Endocrinology
    72. KARAPLIS AC; HE B; NGUYEN MTA; YOUNG ID; SEMERARO D; OZAWA H; AMIZUKA N
      INACTIVATING MUTATION IN THE HUMAN PARATHYROID-HORMONE RECEPTOR-TYPE-1 GENE IN BLOMSTRAND-CHONDRODYSPLASIA

      Endocrinology
    73. Ikegawa, S; Nishimura, G; Nagai, T; Hasegawa, T; Ohashi, H; Nakamura, Y
      Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia

      AMERICAN JOURNAL OF HUMAN GENETICS
    74. KUIVANIEMI H; TROMP G; PROCKOP DJ
      MUTATIONS IN FIBRILLAR COLLAGENS (TYPE-I, TYPE-II, TYPE-III, AND TYPE-XI), FIBRIL-ASSOCIATED COLLAGEN (TYPE-IX), AND NETWORK-FORMING COLLAGEN (TYPE-X) CAUSE A SPECTRUM OF DISEASES OF BONE, CARTILAGE, AND BLOOD-VESSELS

      Human mutation
    75. IKEGAWA S; NAKAMURA K; NAGANO A; HAGA N; NAKAMURA Y
      MUTATIONS IN THE N-TERMINAL GLOBULAR DOMAIN OF THE TYPE-X COLLAGEN GENE (COL10A1) IN PATIENTS WITH SCHMID METAPHYSEAL CHONDRODYSPLASIA

      Human mutation
    76. CHUNG KS; JACENKO O; BOYLE P; OLSEN BR; NISHIMURA I
      CRANIOFACIAL ABNORMALITIES IN MICE CARRYING A DOMINANT INTERFERENCE MUTATION IN TYPE-X COLLAGEN

      Developmental dynamics
    77. PACE JM; LI YF; SEEGMILLER RE; TEUSCHER C; TAYLOR BA; OLSEN BR
      DISPROPORTIONATE MICROMELIA (DMM) IN MICE CAUSED BY A MUTATION IN THEC-PROPEPTIDE CODING REGION OF COL2A1

      Developmental dynamics
    78. MINAGAWA M; ARAKAWA K; TAKEUCHI S; MINAMITANI K; YASUDA T; NIIMI H
      JANSEN-TYPE METAPHYSEAL CHONDRODYSPLASIA - ANALYSIS OF PTH PTH-RELATED PROTEIN-RECEPTOR MESSENGER-RNA BY THE REVERSE-TRANSCRIPTASE POLYMERASE CHAIN METHOD/

      Endocrine journal
    79. MUNDLOS S; OLSEN BR
      HERITABLE DISEASES OF THE SKELETON .3. MOLECULAR INSIGHTS INTO SKELETAL DEVELOPMENT-MATRIX COMPONENTS AND THEIR HOMEOSTASIS

      The FASEB journal
    80. FUJIOKA H; WANG GJ; MIZUNO K; BALIAN G; HURWITZ SR
      CHANGES IN THE EXPRESSION OF TYPE-X COLLAGEN IN THE FIBROCARTILAGE OFRAT ACHILLES-TENDON ATTACHMENT DURING DEVELOPMENT

      Journal of orthopaedic research
    81. HORTON WA
      ADVANCES IN THE GENETICS OF HUMAN CHONDRODYSPLASIAS

      Pediatric radiology
    82. SUTMULLER M; BRUIJN JA; DEHEER E
      COLLAGEN TYPE-VIII AND TYPE-X, 2 NONFIBRILLAR, SHORT-CHAIN COLLAGENS - STRUCTURE HOMOLOGIES, FUNCTIONS AND INVOLVEMENT IN PATHOLOGY

      Histology and histopathology
    83. SCHIPANI E; LANSKE B; HUNZELMAN J; LUZ A; KOVACS CS; LEE K; PIRRO A; KRONENBERG HM; JUPPNER H
      TARGETED EXPRESSION OF CONSTITUTIVELY ACTIVE RECEPTORS FOR PARATHYROID-HORMONE AND PARATHYROID HORMONE-RELATED PEPTIDE DELAYS ENDOCHONDRAL BONE-FORMATION AND RESCUES MICE THAT LACK PARATHYROID HORMONE-RELATED PEPTIDE

      Proceedings of the National Academy of Sciences of the United Statesof America
    84. SPRANGER J
      ERRORS IN SKELETAL DEVELOPMENT

      Monatsschrift fur Kinderheilkunde
    85. KWAN KM; PANG MKM; ZHOU S; COWAN SK; KONG RYC; PFORDTE T; OLSEN BR; SILLENCE DO; TAM PPL; CHEAH KSE
      ABNORMAL COMPARTMENTALIZATION OF CARTILAGE MATRIX COMPONENTS IN MICE LACKING COLLAGEN-X - IMPLICATIONS FOR FUNCTION

      The Journal of cell biology
    86. PASCHALIS EP; JACENKO O; OLSEN B; MENDELSOHN R; BOSKEY AL
      FOURIER-TRANSFORM INFRARED MICROSPECTROSCOPIC ANALYSIS IDENTIFIES ALTERATIONS IN MINERAL PROPERTIES IN BONES FROM MICE TRANSGENIC FOR TYPE-X COLLAGEN

      Bone
    87. DUNGAN JS; EMERSON DS; PHILLIPS OP; SHULMAN LP
      CARTILAGE-HAIR HYPOPLASIA SYNDROME - IMPLICATIONS FOR PRENATAL-DIAGNOSIS

      Fetal diagnosis and therapy
    88. BEIER F; EEROLA I; VUORIO E; LUVALLE P; REICHENBERGER E; BERTLING W; VONDERMARK K; LAMMI MJ
      VARIABILITY IN THE UPSTREAM PROMOTER AND INTRON SEQUENCES OF THE HUMAN, MOUSE AND CHICK TYPE-X COLLAGEN GENES

      Matrix biology
    89. GIRKONTAITE I; FRISCHHOLZ S; LAMMI P; WAGNER K; SWOBODA B; AIGNER T; VONDERMARK K
      IMMUNOLOCALIZATION OF TYPE-X COLLAGEN IN NORMAL FETAL AND ADULT OSTEOARTHRITIC CARTILAGE WITH MONOCLONAL-ANTIBODIES

      Matrix biology
    90. MATSUI Y; KIMURA T; TSUMAKI N; YASUI N; OCHI T
      A RECURRENT 1992DELCT MUTATION OF THE TYPE-X COLLAGEN GENE IN A JAPANESE PATIENT WITH SCHMID METAPHYSEAL CHONDRODYSPLASIA

      Japanese journal of human genetics
    91. HORTON WA
      MOLECULAR-GENETIC BASIS OF THE HUMAN CHONDRODYSPLASIAS

      Endocrinology and metabolism clinics of North America
    92. PASCHALIS EP; JACENKO O; OLSEN B; DECROMBRUGGHE B; BOSKEY AL
      THE ROLE OF TYPE-X COLLAGEN IN ENDOCHONDRAL OSSIFICATION AS DEDUCED BY FOURIER-TRANSFORM INFRARED MICROSCOPY ANALYSIS

      Connective tissue research
    93. BARBER RE; KWAN APL
      PARTIAL CHARACTERIZATION OF THE C-TERMINAL NONCOLLAGENOUS DOMAIN (NC1) OF COLLAGEN TYPE-X

      Biochemical journal
    94. REARDON W
      SKELETAL DYSPLASIAS DETECTABLE BY DNA ANALYSIS

      Prenatal diagnosis
    95. PARFITT AM; SCHIPANI E; RAO DS; KUPIN W; HAN ZH; JUPPNER H
      HYPERCALCEMIA DUE TO CONSTITUTIVE ACTIVITY OF THE PARATHYROID-HORMONE(PTH) PTH-RELATED PEPTIDE RECEPTOR - COMPARISON WITH PRIMARY HYPERPARATHYROIDISM/

      The Journal of clinical endocrinology and metabolism
    96. DIETZ FR; MATHEWS KD
      UPDATE ON THE GENETIC BASES OF DISORDERS WITH ORTHOPEDIC MANIFESTATIONS

      Journal of bone and joint surgery. American volume
    97. DAVIES SR; COLE AA; SCHMID TM
      DOXYCYCLINE INHIBITS TYPE-X COLLAGEN-SYNTHESIS IN AVIAN HYPERTROPHIC CHONDROCYTE CULTURES

      The Journal of biological chemistry
    98. JUPPNER H
      FUNCTIONAL-PROPERTIES OF THE PTH PTHRP RECEPTOR/

      Bone
    99. MCINTOSH I; ABBOTT MH; FRANCOMANO CA
      CONCENTRATION OF MUTATIONS CAUSING SCHMID METAPHYSEAL CHONDRODYSPLASIA IN THE C-TERMINAL NONCOLLAGENOUS DOMAIN OF TYPE-X COLLAGEN

      Human mutation
    100. MAKITIE O; SULISALO T; DELACHAPELLE A; KAITILA I
      CARTILAGE-HAIR HYPOPLASIA

      Journal of Medical Genetics


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Documento generato il 02/06/20 alle ore 20:24:19