287 related articles for article (PubMed ID: 18199430)
41. Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
Friez MJ; Wilson JA
Eur J Hum Genet; 2008 Mar; 16(3):277-8. PubMed ID: 17895900
[No Abstract] [Full Text] [Related]
42. Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.
Ajmal M; Mir A; Shoaib M; Malik SA; Nasir M
Diagn Pathol; 2017 Jul; 12(1):47. PubMed ID: 28679403
[TBL] [Abstract][Full Text] [Related]
43. Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.
Patil SJ; Banerjee M; Phadke SR; Mittal B
Indian J Pediatr; 2009 Feb; 76(2):147-9. PubMed ID: 19330302
[TBL] [Abstract][Full Text] [Related]
44. Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association.
de Azevedo Moreira LM; Matos MA; Schiper PP; Carvalho AF; Gomes IC; Rolemberg JC; Ferreira de Lima RL; Toralles MB
Birth Defects Res A Clin Mol Teratol; 2010 Apr; 88(4):228-31. PubMed ID: 20222028
[TBL] [Abstract][Full Text] [Related]
45. PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations.
Pusch CM; Broghammer M; Nicholson GJ; Nerlich AG; Zink A; Kennerknecht I; Bachmann L; Blin N
Mol Biol Evol; 2004 Nov; 21(11):2005-11. PubMed ID: 15254256
[TBL] [Abstract][Full Text] [Related]
46. Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
Millat G; Chanavat V; Julia S; Crehalet H; Bouvagnet P; Rousson R
Clin Biochem; 2009 Jun; 42(9):892-8. PubMed ID: 19318026
[TBL] [Abstract][Full Text] [Related]
47. High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis.
Vossen RH; van Duijn M; Daha MR; den Dunnen JT; Roos A
Hum Mutat; 2010 Apr; 31(4):E1286-93. PubMed ID: 20127985
[TBL] [Abstract][Full Text] [Related]
48. Achondroplasia: pathogenesis and implications for future treatment.
Laederich MB; Horton WA
Curr Opin Pediatr; 2010 Aug; 22(4):516-23. PubMed ID: 20601886
[TBL] [Abstract][Full Text] [Related]
49. Mutation scanning using high-resolution melting.
Taylor CF
Biochem Soc Trans; 2009 Apr; 37(Pt 2):433-7. PubMed ID: 19290876
[TBL] [Abstract][Full Text] [Related]
50. Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.
Zhang SR; Zhou XQ; Ren X; Wang TT; Yuan MX; Wang Q; Liu JY; Liu MG
Chin Med J (Engl); 2007 Jun; 120(11):1017-9. PubMed ID: 17624273
[No Abstract] [Full Text] [Related]
51. FGFR3 targeting strategies for achondroplasia.
Laederich MB; Horton WA
Expert Rev Mol Med; 2012 Jan; 14():e11. PubMed ID: 22559284
[TBL] [Abstract][Full Text] [Related]
52. [Rapid detection of hot spot mutations of FGFR3 gene with PCR-high resolution melting assay].
Li S; Wang H; Su H; Gao J; Zhao X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):494-498. PubMed ID: 28777845
[TBL] [Abstract][Full Text] [Related]
53. Achondroplasia.
Horton WA; Hall JG; Hecht JT
Lancet; 2007 Jul; 370(9582):162-172. PubMed ID: 17630040
[TBL] [Abstract][Full Text] [Related]
54. High-resolution melting analysis (HRMA): more than just sequence variant screening.
Vossen RH; Aten E; Roos A; den Dunnen JT
Hum Mutat; 2009 Jun; 30(6):860-6. PubMed ID: 19418555
[TBL] [Abstract][Full Text] [Related]
55. Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.
Nagata T; Matsushita M; Mishima K; Kamiya Y; Kato K; Toyama M; Ogi T; Ishiguro N; Kitoh H
Mol Genet Genomic Med; 2020 Mar; 8(3):e1148. PubMed ID: 31975530
[TBL] [Abstract][Full Text] [Related]
56. FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
Di Rocco F; Biosse Duplan M; Heuzé Y; Kaci N; Komla-Ebri D; Munnich A; Mugniery E; Benoist-Lasselin C; Legeai-Mallet L
Hum Mol Genet; 2014 Jun; 23(11):2914-25. PubMed ID: 24419316
[TBL] [Abstract][Full Text] [Related]
57. A rapid high-throughput method for the detection and quantification of RNA editing based on high-resolution melting of amplicons.
Chateigner-Boutin AL; Small I
Nucleic Acids Res; 2007; 35(17):e114. PubMed ID: 17726051
[TBL] [Abstract][Full Text] [Related]
58. FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.
Yuan H; Huang L; Hu X; Li Q; Sun X; Xie Y; Kong S; Wang X
Orphanet J Rare Dis; 2016 Jul; 11(1):89. PubMed ID: 27370225
[TBL] [Abstract][Full Text] [Related]
59. Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes.
Schrijver I; Lay MJ; Zehnder JL
Genet Test; 2004; 8(2):185-9. PubMed ID: 15345118
[TBL] [Abstract][Full Text] [Related]
60. Quantitative heteroduplex analysis for single nucleotide polymorphism genotyping.
Palais RA; Liew MA; Wittwer CT
Anal Biochem; 2005 Nov; 346(1):167-75. PubMed ID: 16188219
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]