172 related articles for article (PubMed ID: 9316303)
21. 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]
22. 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]
23. Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.
Chitayat D; Fernandez B; Gardner A; Moore L; Glance P; Dunn M; Chun K; Sgro M; Ray P; Allingham-Hawkins D
Am J Med Genet; 1999 Jun; 84(5):401-5. PubMed ID: 10360393
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype.
Tanaka H; Kubo T; Yamate T; Ono T; Kanzaki S; Seino Y
Eur J Endocrinol; 1998 Mar; 138(3):275-80. PubMed ID: 9539301
[TBL] [Abstract][Full Text] [Related]
26. [Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].
Rousseau F; Bonaventure J; Le Merrer M; Maroteaux P; Munnich A
Ann Endocrinol (Paris); 1996; 57(3):153. PubMed ID: 8949408
[No Abstract] [Full Text] [Related]
27. The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia.
Tanaka N; Katsumata N; Horikawa R; Tanaka T
Endocr J; 2003 Feb; 50(1):69-75. PubMed ID: 12733711
[TBL] [Abstract][Full Text] [Related]
28. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet JM; Maroteaux P; Le Merrer M; Munnich A
Nature; 1994 Sep; 371(6494):252-4. PubMed ID: 8078586
[TBL] [Abstract][Full Text] [Related]
29. Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.
Ikegawa S; Fukushima Y; Isomura M; Takada F; Nakamura Y
Hum Genet; 1995 Sep; 96(3):309-11. PubMed ID: 7649548
[TBL] [Abstract][Full Text] [Related]
30. [Clinical, radiological and genetic characteristics of various types of short-limb dwarfism in the newborn infant].
Richardson V; Mutchinick O
Bol Med Hosp Infant Mex; 1982 Feb; 39(2):105-11. PubMed ID: 7093013
[No Abstract] [Full Text] [Related]
31. Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
Alderborn A; Anvret M; Gustavson KH; Hagenäs L; Wadelius C
Acta Paediatr; 1996 Dec; 85(12):1506-7. PubMed ID: 9001669
[TBL] [Abstract][Full Text] [Related]
32. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z; Francomano CA; Wilkin DJ
Endocr Rev; 2000 Feb; 21(1):23-39. PubMed ID: 10696568
[TBL] [Abstract][Full Text] [Related]
33. FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.
Yan-Ling G; Ji-Hong N; Guo-Qiang L; Wei W; De-Fen W
Horm Res; 1998; 49 Suppl 1():57. PubMed ID: 9554479
[No Abstract] [Full Text] [Related]
34. Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period.
Kataoka S; Sawai H; Yamada H; Kanazawa N; Koyama K; Nishimura G; Morikawa M; Sakuragi N; Minakami H
Prenat Diagn; 2004 Jan; 24(1):45-9. PubMed ID: 14755409
[TBL] [Abstract][Full Text] [Related]
35. 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]
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. Achondroplasia-hypochondroplasia complex in a newborn infant.
Huggins MJ; Smith JR; Chun K; Ray PN; Shah JK; Whelan DT
Am J Med Genet; 1999 Jun; 84(5):396-400. PubMed ID: 10360392
[TBL] [Abstract][Full Text] [Related]
38. Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
Saitou H; Kitaoka T; Kubota T; Kanno J; Mochizuki H; Michigami T; Hasegawa K; Fujiwara I; Hamajima T; Harada D; Seki Y; Nagasaki K; Dateki S; Namba N; Tokuoka H; Pimenta JM; Cohen S; Ozono K
Am J Med Genet A; 2024 Aug; 194(8):e63612. PubMed ID: 38554024
[TBL] [Abstract][Full Text] [Related]
39. Children with short-limbed short stature in pediatric endocrinological services in Japan.
Hasegawa K; Tanaka H
Pediatr Int; 2014 Dec; 56(6):809-812. PubMed ID: 25244068
[TBL] [Abstract][Full Text] [Related]
40. Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans.
Usha AP; Lester DH; Williams JL
Anim Genet; 1997 Feb; 28(1):55-7. PubMed ID: 9124710
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]