164 related articles for article (PubMed ID: 17895900)
1. 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]
2. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
Bellus GA; McIntosh I; Smith EA; Aylsworth AS; Kaitila I; Horton WA; Greenhaw GA; Hecht JT; Francomano CA
Nat Genet; 1995 Jul; 10(3):357-9. PubMed ID: 7670477
[TBL] [Abstract][Full Text] [Related]
3. Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.
Pugash D; Lehman AM; Langlois S
Ultrasound Obstet Gynecol; 2014 Sep; 44(3):365-8. PubMed ID: 24616001
[TBL] [Abstract][Full Text] [Related]
4. [Rapid genetic prenatal diagnosis for achondroplasia].
Zhu HY; Yang Y; Li J; Ru T; Hu YL
Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):810-3. PubMed ID: 19087561
[TBL] [Abstract][Full Text] [Related]
5. [Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].
Mancilla EE; Poggi H; Repetto G; García C; Foradori A; Cattani A
Rev Med Chil; 2003 Dec; 131(12):1405-10. PubMed ID: 15022403
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Prenatal diagnosis of achondroplasia].
Huang X; Huang LH; Fang Q; Chen ML; Zhou Y; Cai J; Chen BJ; Chen JH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):427-9. PubMed ID: 18683143
[TBL] [Abstract][Full Text] [Related]
8. [Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia].
Tanaka H
Clin Calcium; 2010 Oct; 20(10):1490-6. PubMed ID: 20890030
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida MR; Campos-Xavier AB; Medeira A; Cordeiro I; Sousa AB; Lima M; Soares G; Rocha M; Saraiva J; Ramos L; Sousa S; Marcelino JP; Correia A; Santos HG
Clin Genet; 2009 Feb; 75(2):150-6. PubMed ID: 19215249
[TBL] [Abstract][Full Text] [Related]
10. Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
Hung CC; Lee CN; Chang CH; Jong YJ; Chen CP; Hsieh WS; Su YN; Lin WL
Clin Biochem; 2008 Feb; 41(3):162-6. PubMed ID: 18199430
[TBL] [Abstract][Full Text] [Related]
11. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
Heuertz S; Le Merrer M; Zabel B; Wright M; Legeai-Mallet L; Cormier-Daire V; Gibbs L; Bonaventure J
Eur J Hum Genet; 2006 Dec; 14(12):1240-7. PubMed ID: 16912704
[TBL] [Abstract][Full Text] [Related]
12. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.
Stoilov I; Kilpatrick MW; Tsipouras P
Am J Med Genet; 1995 Jan; 55(1):127-33. PubMed ID: 7702086
[TBL] [Abstract][Full Text] [Related]
13. Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.
Pannier S; Mugniery E; Jonquoy A; Benoist-Lasselin C; Odent T; Jais JP; Munnich A; Legeai-Mallet L
Bone; 2010 Nov; 47(5):905-15. PubMed ID: 20673820
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.
Grigelioniené G; Hagenäs L; Eklöf O; Neumeyer L; Haereid PE; Anvret M
Hum Mutat; 1998; 11(4):333. PubMed ID: 10215410
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.
Tsai FJ; Tsai CH; Chang JG; Wu JY
Am J Med Genet; 1999 Sep; 86(3):300-1. PubMed ID: 10482885
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.
Etlik O; Koksal V; Tugba Arican-Baris S; Baris I
Mol Cell Probes; 2008 Apr; 22(2):71-5. PubMed ID: 17683901
[TBL] [Abstract][Full Text] [Related]
20. Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.
Santos HG; Almeida M; Fernandes H; Wilkie AO
Am J Med Genet A; 2007 Feb; 143(4):355-9. PubMed ID: 17256796
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]