216 related articles for article (PubMed ID: 10932008)
21. A simple and rapid quantitative method of detection of the common achondroplasia mutation: analysis in mismatch repair deficient cells.
Grewal RP
Genetika; 2005 Aug; 41(8):1137-41. PubMed ID: 16161636
[TBL] [Abstract][Full Text] [Related]
22. [Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
Ezquieta Zubicaray B; Iguacel AO; Varela Junquera JM; Jariego Fente CM; González Gancedo P; Gracia Bouthelier R
Med Clin (Barc); 1999 Mar; 112(8):290-3. PubMed ID: 10207844
[TBL] [Abstract][Full Text] [Related]
23. Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet JM; Maroteaux P; Le Merrer M; Munnich A
Horm Res; 1996; 45(1-2):108-10. PubMed ID: 8742128
[TBL] [Abstract][Full Text] [Related]
24. FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation.
Chen H; Mu X; Sonoda T; Kim KC; Dailey K; Martinez J; Tuck-Muller C; Wertelecki W
South Med J; 2000 Jun; 93(6):622-4. PubMed ID: 10881785
[TBL] [Abstract][Full Text] [Related]
25. An uncommon G375C substitution in a newborn with achondroplasia.
Addor MC; Gudinchet F; Truttmann A; Schorderet DF
Genet Couns; 2000; 11(2):169-74. PubMed ID: 10893668
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
He X; Xie F; Ren ZR
Genet Test Mol Biomarkers; 2012 Apr; 16(4):297-301. PubMed ID: 22339077
[TBL] [Abstract][Full Text] [Related]
28. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.
Colvin JS; Bohne BA; Harding GW; McEwen DG; Ornitz DM
Nat Genet; 1996 Apr; 12(4):390-7. PubMed ID: 8630492
[TBL] [Abstract][Full Text] [Related]
29. [Achondroplasia, hypochondroplasia].
Fujiwara F; Tonoki H
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):301-3. PubMed ID: 11057237
[No Abstract] [Full Text] [Related]
30. 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]
31. 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]
32. Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization.
Falik-Zaccai TC; Shachak E; Abeliovitch D; Lerer I; Shefer R; Carmi R; Ries L; Friedman M; Shohat M; Borochowitz Z
Isr Med Assoc J; 2000 Aug; 2(8):601-4. PubMed ID: 10979354
[TBL] [Abstract][Full Text] [Related]
33. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
Webster MK; Donoghue DJ
EMBO J; 1996 Feb; 15(3):520-7. PubMed ID: 8599935
[TBL] [Abstract][Full Text] [Related]
34. [Diagnosing achondroplasia by single cell nested-PCR].
Zhong CG; Li LY; Lu CF; Lin G; Fu JJ; Luo KL; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Jun; 20(3):228-31. PubMed ID: 12778450
[TBL] [Abstract][Full Text] [Related]
35. Clinical and molecular characteristics of Thai patients with achondroplasia.
Shotelersuk V; Ittiwut C; Srivuthana S; Wacharasindhu S; Aroonparkmongkol S; Mutirangura A; Poovorawan Y
Southeast Asian J Trop Med Public Health; 2001 Jun; 32(2):429-33. PubMed ID: 11556601
[TBL] [Abstract][Full Text] [Related]
36. [Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children].
Li F; Ma HW; Song Y; Hu M; Ren S; Yu YF; Zhao GJ
Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):932-6. PubMed ID: 24229583
[TBL] [Abstract][Full Text] [Related]
37. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism.
Horton WA; Lunstrum GP
Rev Endocr Metab Disord; 2002 Dec; 3(4):381-5. PubMed ID: 12424440
[No Abstract] [Full Text] [Related]
38. Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Bellus GA; Hefferon TW; Ortiz de Luna RI; Hecht JT; Horton WA; Machado M; Kaitila I; McIntosh I; Francomano CA
Am J Hum Genet; 1995 Feb; 56(2):368-73. PubMed ID: 7847369
[TBL] [Abstract][Full Text] [Related]
39. Polymorphism at position 882 of the fibroblast growth factor receptor 3 (FGFR3) gene detected by SSCP analysis.
Tartaglia M; Saulle E; Bordoni V; Battaglia PA
Mol Cell Probes; 1998 Oct; 12(5):335-7. PubMed ID: 9778460
[No Abstract] [Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]