266 related articles for article (PubMed ID: 11475794)
1. [Hypochondroplasia: importance of radiological findings in the differential diagnosis of short statures of different origin].
Iannaccone R; Tiberti AC
Recenti Prog Med; 2001; 92(7-8):483-8. PubMed ID: 11475794
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Spondylometaphyseal dysplasia in two sibs of normal parents.
Gustavson KH; Holmgren G; Probst F
Pediatr Radiol; 1978 Jun; 7(2):90-6. PubMed ID: 673535
[TBL] [Abstract][Full Text] [Related]
4. Dwarfism in the newborn: the nomenclature, radiological features and genetic significance.
Cremin BJ; Beighton P
Br J Radiol; 1974 Feb; 47(554):77-93. PubMed ID: 4206212
[No Abstract] [Full Text] [Related]
5. Hypochondroplasia.
Newman DE; Dunbar JC
J Can Assoc Radiol; 1975 Jun; 26(2):95-103. PubMed ID: 1158967
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. [Homozygous form of achondroplasia and thanatophoric dwarfism--bone dysplasias to be diagnosed before birth].
Rogovits N; Weissenbacher G; Zweymüller E
Geburtshilfe Frauenheilkd; 1972 Mar; 32(3):184-91. PubMed ID: 5063577
[No Abstract] [Full Text] [Related]
8. Double heterozygosity in bone growth disorders: four new observations and review.
Flynn MA; Pauli RM
Am J Med Genet A; 2003 Sep; 121A(3):193-208. PubMed ID: 12923858
[TBL] [Abstract][Full Text] [Related]
9. Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.
Oberklaid F; Danks DM; Jensen F; Stace L; Rosshandler S
J Med Genet; 1979 Apr; 16(2):140-6. PubMed ID: 458831
[TBL] [Abstract][Full Text] [Related]
10. Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.
Prinster C; Del Maschio M; Beluffi G; Maghnie M; Weber G; Del Maschio A; Chiumello G
Pediatr Radiol; 2001 Mar; 31(3):203-8. PubMed ID: 11297088
[TBL] [Abstract][Full Text] [Related]
11. Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases.
Langer LO; Beals RK; Scott CI
Pediatr Radiol; 1997 May; 27(5):409-14. PubMed ID: 9133352
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Genotype phenotype correlation in achondroplasia and hypochondroplasia.
Matsui Y; Yasui N; Kimura T; Tsumaki N; Kawabata H; Ochi T
J Bone Joint Surg Br; 1998 Nov; 80(6):1052-6. PubMed ID: 9853502
[TBL] [Abstract][Full Text] [Related]
15. Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature.
Pallotta R; Ehresmann T; Roggini M; Fusilli P
Radiology; 1999 Sep; 212(3):847-52. PubMed ID: 10478256
[TBL] [Abstract][Full Text] [Related]
16. Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
Chen CP; Su YN; Lin TH; Chang TY; Su JW; Wang W
Taiwan J Obstet Gynecol; 2013 Dec; 52(4):580-5. PubMed ID: 24411048
[TBL] [Abstract][Full Text] [Related]
17. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.
Lemyre E; Azouz EM; Teebi AS; Glanc P; Chen MF
Can Assoc Radiol J; 1999 Jun; 50(3):185-97. PubMed ID: 10405653
[TBL] [Abstract][Full Text] [Related]
18. [Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)].
Lischka A; Frisch H; Weissenbacher G
Monatsschr Kinderheilkd; 1984 Jul; 132(7):550-3. PubMed ID: 6472301
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
Song SH; Balce GC; Agashe MV; Lee H; Hong SJ; Park YE; Kim SG; Song HR
Am J Med Genet A; 2012 Oct; 158A(10):2456-62. PubMed ID: 22903874
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]