These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 21239989)

  • 21. Studies of type I collagen in osteogenesis imperfecta.
    Edwards MJ; Graham JM
    J Pediatr; 1990 Jul; 117(1 Pt 1):67-72. PubMed ID: 2370612
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive
    Zhytnik L; Duy BH; Eekhoff M; Wisse L; Pals G; Reimann E; Kõks S; Märtson A; Maugeri A; Maasalu K; Micha D
    Genes (Basel); 2022 Feb; 13(3):. PubMed ID: 35327962
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
    Thompson EM; Young ID; Hall CM; Pembrey ME
    J Med Genet; 1987 Jul; 24(7):390-405. PubMed ID: 3612715
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
    Cabral WA; Chang W; Barnes AM; Weis M; Scott MA; Leikin S; Makareeva E; Kuznetsova NV; Rosenbaum KN; Tifft CJ; Bulas DI; Kozma C; Smith PA; Eyre DR; Marini JC
    Nat Genet; 2007 Mar; 39(3):359-65. PubMed ID: 17277775
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism.
    Chen CP; Lin SP; Su YN; Chern SR; Su JW; Wang W
    Taiwan J Obstet Gynecol; 2013 Mar; 52(1):106-9. PubMed ID: 23548228
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
    Barnes AM; Carter EM; Cabral WA; Weis M; Chang W; Makareeva E; Leikin S; Rotimi CN; Eyre DR; Raggio CL; Marini JC
    N Engl J Med; 2010 Feb; 362(6):521-8. PubMed ID: 20089953
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
    Bodian DL; Chan TF; Poon A; Schwarze U; Yang K; Byers PH; Kwok PY; Klein TE
    Hum Mol Genet; 2009 Feb; 18(3):463-71. PubMed ID: 18996919
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism.
    Lund AM; Schwartz M; Skovby F
    Prenat Diagn; 1996 Nov; 16(11):1032-8. PubMed ID: 8953637
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
    Hasegawa K
    Clin Calcium; 2010 Aug; 20(8):1190-5. PubMed ID: 20675929
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
    Edwards MJ; Wenstrup RJ; Byers PH; Cohn DH
    Hum Mutat; 1992; 1(1):47-54. PubMed ID: 1301191
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.
    Amor IM; Rauch F; Gruenwald K; Weis M; Eyre DR; Roughley P; Glorieux FH; Morello R
    Am J Med Genet A; 2011 Nov; 155A(11):2865-70. PubMed ID: 21964860
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta.
    Williams EM; Nicholls AC; Daw SC; Mitchell N; Levin LS; Green B; MacKenzie J; Evans DR; Chudleigh PA; Pope FM
    Clin Genet; 1989 Mar; 35(3):181-90. PubMed ID: 2650933
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.
    Yamada T; Takagi M; Nishimura G; Akaishi R; Furuta I; Morikawa M; Yamada T; Cho K; Sawai H; Ikegawa S; Hasegawa T; Minakami H
    Am J Med Genet A; 2012 Nov; 158A(11):2969-71. PubMed ID: 22987783
    [No Abstract]   [Full Text] [Related]  

  • 34. [Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].
    Galicka A
    Postepy Hig Med Dosw (Online); 2012 Jun; 66():359-71. PubMed ID: 22706122
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
    Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B
    J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
    Essawi O; Symoens S; Fannana M; Darwish M; Farraj M; Willaert A; Essawi T; Callewaert B; De Paepe A; Malfait F; Coucke PJ
    Mol Genet Genomic Med; 2018 Jan; 6(1):15-26. PubMed ID: 29150909
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.
    Lynch JR; Ogilvie D; Priestley L; Baigrie C; Smith R; Farndon P; Sykes B
    J Med Genet; 1991 Mar; 28(3):145-50. PubMed ID: 2051450
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
    Senturk L; Gulec C; Sarac Sivrikoz T; Kayserili H; Kalelioglu IH; Avci S; Has R; Coucke P; Kalayci T; Wollnik B; Karaman B; Toksoy G; Symoens S; Yigit G; Yuksel A; Basaran S; Tuysuz B; Altunoglu U; Uyguner ZO
    Fetal Diagn Ther; 2024; 51(3):285-299. PubMed ID: 38346409
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
    Barnes AM; Cabral WA; Weis M; Makareeva E; Mertz EL; Leikin S; Eyre D; Trujillo C; Marini JC
    Hum Mutat; 2012 Nov; 33(11):1589-98. PubMed ID: 22718341
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
    Homan EP; Lietman C; Grafe I; Lennington J; Morello R; Napierala D; Jiang MM; Munivez EM; Dawson B; Bertin TK; Chen Y; Lua R; Lichtarge O; Hicks J; Weis MA; Eyre D; Lee BH
    PLoS Genet; 2014 Jan; 10(1):e1004121. PubMed ID: 24465224
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.