238 related articles for article (PubMed ID: 32460719)
41. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD; Chapman KL
Hum Mutat; 2002 May; 19(5):465-78. PubMed ID: 11968079
[TBL] [Abstract][Full Text] [Related]
42. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC; Mittaz-Crettol L; Taylor JA; Mortier GR; Spranger J; Zabel B; Le Merrer M; Cormier-Daire V; Hall CM; Offiah A; Wright MJ; Savarirayan R; Nishimura G; Ramsden SC; Elles R; Bonafe L; Superti-Furga A; Unger S; Zankl A; Briggs MD
Hum Mutat; 2012 Jan; 33(1):144-57. PubMed ID: 21922596
[TBL] [Abstract][Full Text] [Related]
43. [A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].
Wang H; Xie J; Wu W; Xu Z; Luo F; Geng Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):322-5. PubMed ID: 23744324
[TBL] [Abstract][Full Text] [Related]
44. Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
Zhou T; Wang Y; Zhou H; Liao Z; Gao B; Su D; Zheng S; Xu C; Su P
BMC Med Genet; 2018 May; 19(1):70. PubMed ID: 29724173
[TBL] [Abstract][Full Text] [Related]
45. Multiple SLC26A2 mutations occurring in a three-generational family.
Barreda-Bonis AC; Barraza-García J; Parrón M; Pastor I; Heath KE; González-Casado I
Eur J Med Genet; 2018 Jan; 61(1):24-28. PubMed ID: 29024831
[TBL] [Abstract][Full Text] [Related]
46. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
Balasubramanian K; Li B; Krakow D; Nevarez L; Ho PJ; Ainsworth JA; Nickerson DA; Bamshad MJ; Immken L; Lachman RS; Cohn DH
Am J Med Genet A; 2017 Sep; 173(9):2415-2421. PubMed ID: 28742282
[TBL] [Abstract][Full Text] [Related]
47. Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
Yang L; Zhang C; Wang W; Wang J; Xiao Y; Lu W; Ma X; Chen L; Ni J; Wang D; Shi J; Dong Z
BMC Med Genet; 2018 Dec; 19(1):212. PubMed ID: 30541462
[TBL] [Abstract][Full Text] [Related]
48. Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.
Jeong C; Lee JY; Kim J; Chae H; Park HI; Kim M; Kim OH; Kim P; Lee YK; Jung J
BMC Musculoskelet Disord; 2014 Nov; 15():371. PubMed ID: 25381065
[TBL] [Abstract][Full Text] [Related]
49. Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.
Nakashima E; Kitoh H; Maeda K; Haga N; Kosaki R; Mabuchi A; Nishimura G; Ohashi H; Ikegawa S
Am J Med Genet A; 2005 Jan; 132A(2):181-4. PubMed ID: 15551337
[TBL] [Abstract][Full Text] [Related]
50. Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
Mabuchi A; Haga N; Ikeda T; Manabe N; Ohashi H; Takatori Y; Nakamura K; Ikegawa S
Am J Med Genet; 2001 Nov; 104(2):135-9. PubMed ID: 11746044
[TBL] [Abstract][Full Text] [Related]
51. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.
Lachman RS; Krakow D; Cohn DH; Rimoin DL
Pediatr Radiol; 2005 Feb; 35(2):116-23. PubMed ID: 15503005
[TBL] [Abstract][Full Text] [Related]
52. Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
Di Rocco M; Rusmini M; Caroli F; Madeo A; Bertamino M; Marre-Brunenghi G; Ceccherini I
Clin Genet; 2018 Mar; 93(3):671-674. PubMed ID: 28892125
[TBL] [Abstract][Full Text] [Related]
53. Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2).
Fiedler J; Stöve J; Heber F; Brenner RE
Am J Med Genet; 2002 Oct; 112(2):144-53. PubMed ID: 12244547
[TBL] [Abstract][Full Text] [Related]
54. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
Briggs MD; Hoffman SM; King LM; Olsen AS; Mohrenweiser H; Leroy JG; Mortier GR; Rimoin DL; Lachman RS; Gaines ES
Nat Genet; 1995 Jul; 10(3):330-6. PubMed ID: 7670472
[TBL] [Abstract][Full Text] [Related]
55. Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.
Thur J; Rosenberg K; Nitsche DP; Pihlajamaa T; Ala-Kokko L; Heinegård D; Paulsson M; Maurer P
J Biol Chem; 2001 Mar; 276(9):6083-92. PubMed ID: 11084047
[TBL] [Abstract][Full Text] [Related]
56. Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.
Tufan AC; Satiroglu-Tufan NL; Jackson GC; Semerci CN; Solak S; Yagci B
Eur J Hum Genet; 2007 Oct; 15(10):1023-8. PubMed ID: 17579668
[TBL] [Abstract][Full Text] [Related]
57. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
Bönnemann CG; Cox GF; Shapiro F; Wu JJ; Feener CA; Thompson TG; Anthony DC; Eyre DR; Darras BT; Kunkel LM
Proc Natl Acad Sci U S A; 2000 Feb; 97(3):1212-7. PubMed ID: 10655510
[TBL] [Abstract][Full Text] [Related]
58. Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
Zankl A; Jackson GC; Crettol LM; Taylor J; Elles R; Mortier GR; Spranger J; Zabel B; Unger S; Merrer ML; Cormier-Daire V; Hall CM; Wright MJ; Bonafe L; Superti-Furga A; Briggs MD
Eur J Hum Genet; 2007 Feb; 15(2):150-4. PubMed ID: 17133256
[TBL] [Abstract][Full Text] [Related]
59. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
Susic S; McGrory J; Ahier J; Cole WG
Clin Genet; 1997 Apr; 51(4):219-24. PubMed ID: 9184241
[TBL] [Abstract][Full Text] [Related]
60. A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.
Shotelersuk V; Punyashthiti R
Int J Mol Med; 2002 Jan; 9(1):81-4. PubMed ID: 11745002
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
