BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

122 related articles for article (PubMed ID: 4265356)

  • 21. Histopathology and ultrastructure of cartilage in the chondrodystrophies.
    Rimoin DL
    Birth Defects Orig Artic Ser; 1974; 10(9):1-18. PubMed ID: 4214207
    [No Abstract]   [Full Text] [Related]  

  • 22. Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.
    Toledo SP; Saldanha PH; Lamego C; MourĂ£o PA; Dietrich CP; Mattar E
    Am J Med Genet; 1979; 4(3):255-61. PubMed ID: 117710
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Morquio-Ullrich disease with oligophrenia].
    Campailla E; Martinelli B; Bovi A
    G Psichiatr Neuropatol; 1967; 95(4):987-98. PubMed ID: 4236292
    [No Abstract]   [Full Text] [Related]  

  • 24. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.
    Alshammari MJ; Al-Otaibi L; Alkuraya FS
    J Med Genet; 2012 Jul; 49(7):455-61. PubMed ID: 22652534
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Histologic studies in the chondrodystrophies.
    Rimoin DL; Hollister DW; Lachman RS; Kaufman RL; McAlister WH; Rosenthal RE; Hughes GN
    Birth Defects Orig Artic Ser; 1974; 10(12):274-95. PubMed ID: 4218770
    [No Abstract]   [Full Text] [Related]  

  • 26. Abnormal serum alpha 2-macroglobulin in Dyggve-Melchior-Clausen syndrome.
    Rastogi SC; Clausen J; Melchior JC; Dyggve HV
    J Clin Chem Clin Biochem; 1980 Jan; 18(1):67-8. PubMed ID: 6153699
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
    Dimitrov A; Paupe V; Gueudry C; Sibarita JB; Raposo G; Vielemeyer O; Gilbert T; Csaba Z; Attie-Bitach T; Cormier-Daire V; Gressens P; Rustin P; Perez F; El Ghouzzi V
    Hum Mol Genet; 2009 Feb; 18(3):440-53. PubMed ID: 18996921
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.
    Kinning E; Tufarelli C; Winship WS; Aldred MA; Trembath RC
    J Med Genet; 2005 Dec; 42(12):e70. PubMed ID: 16326827
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [The mucopolysaccharidoses].
    Lamy M; Maroteaux P
    Minerva Pediatr; 1970 Jun; 22(24):1224-32. PubMed ID: 4252418
    [No Abstract]   [Full Text] [Related]  

  • 30. [Dyggve-Melchior-Clausen syndrome].
    Okamoto N
    Ryoikibetsu Shokogun Shirizu; 2001; (33):586-7. PubMed ID: 11462582
    [No Abstract]   [Full Text] [Related]  

  • 31. Dyggve melchior clausen syndrome.
    Gupta V; Kohli A; Dewan V
    Indian Pediatr; 2010 Nov; 47(11):973-5. PubMed ID: 21149903
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
    Denais C; Dent CL; Southgate L; Hoyle J; Dafou D; Trembath RC; Machado RD
    Hum Mutat; 2011 Feb; 32(2):231-9. PubMed ID: 21280149
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
    Abdullah ; Shah PW; Nawaz S; Hussain S; Ullah A; Basit S; Ahmad W
    Mol Biol Rep; 2020 Sep; 47(9):7083-7088. PubMed ID: 32886330
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Treatment of hip subluxation in Dyggve-Melchior-Clausen syndrome.
    Hosny GA; Fabry G
    J Pediatr Orthop B; 1998 Jan; 7(1):32-4. PubMed ID: 9481654
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.
    Kenis V; Baindurashvili A; Melchenko E; Grill F; Al Kaissi A
    Ger Med Sci; 2011; 9():Doc25. PubMed ID: 21966286
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.
    Yadav AK; Wadia F; Gawhale S; Panchal S; Talukder P; Mokashi M
    J Orthop Case Rep; 2021 Aug; 11(8):84-86. PubMed ID: 35004383
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Morquio-Ullrich's disease with oligophrenia].
    Campailla E; Martinelli B; Bovi A
    Z Orthop Ihre Grenzgeb; 1969 Nov; 107(1):151-9. PubMed ID: 4245187
    [No Abstract]   [Full Text] [Related]  

  • 38. Ultrastructure of cartilage in the Hurler and Sanfilippo syndromes.
    Silberberg R; Rimoin DL; Rosenthal RE; Hasler MB
    Arch Pathol; 1972 Dec; 94(6):500-10. PubMed ID: 4263881
    [No Abstract]   [Full Text] [Related]  

  • 39. The Dyggve-Melchior-Clausen syndrome.
    Naffah J
    Am J Hum Genet; 1976 Nov; 28(6):607-14. PubMed ID: 1008064
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [2 further cases of Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid apophysis and spinal compression].
    Naffah J; Taleb N
    Arch Fr Pediatr; 1974 Dec; 31(10):985-92. PubMed ID: 4219130
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.