These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 21225389)

  • 1. Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.
    Dumic K; Barisic I; Potocki K; Sansovic I
    J Appl Genet; 2011 May; 52(2):209-12. PubMed ID: 21225389
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.
    Kim HY; Lee YA; Shin CH; Cho TJ; Ko JM
    Exp Clin Endocrinol Diabetes; 2023 Mar; 131(3):123-131. PubMed ID: 36442838
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
    Couser NL; Pande CK; Turcott CM; Spector EB; Aylsworth AS; Powell CM
    Am J Med Genet A; 2017 Apr; 173(4):1097-1101. PubMed ID: 28181399
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia.
    Shin YL; Choi JH; Kim GH; Yoo HW
    J Pediatr Endocrinol Metab; 2005 Oct; 18(10):999-1005. PubMed ID: 16355813
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 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. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.
    Ross JL; Bellus G; Scott CI; Abboudi J; Grigelioniene G; Zinn AR
    Am J Med Genet A; 2003 Jan; 116A(1):61-5. PubMed ID: 12476453
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
    Camera G; Baldi M; Strisciuglio G; Concolino D; Mastroiacovo P; Baffico M
    Am J Med Genet; 2001 Dec; 104(4):277-81. PubMed ID: 11754059
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.
    Fofanova OV; Takamura N; Kinoshita E; Meerson EM; Iljina VK; Nechvolodova OL; Evgrafov OV; Peterkova VA; Yamashita S
    Endocr J; 1998 Dec; 45(6):791-5. PubMed ID: 10395236
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.
    De Sanctis V; Baldi M; Marsciani A; Ravaioli E; Timoncini G; Reggiani L; Sensi A; Zucchini A
    Georgian Med News; 2012 Sep; (210):77-82. PubMed ID: 23045425
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare
    Ekinci S; Ülger Y; Acar MO; Ceran A; Aycan Z; Fitoz ÖS; Ilgın Ruhi H
    J Pediatr Endocrinol Metab; 2022 Aug; 35(8):1097-1101. PubMed ID: 35438268
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.