BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 30168875)

  • 1. Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients.
    Yasuda M; Morimoto N; Shimizu A; Toyoshima T; Yokoyama Y; Ishikawa O
    J Dermatol; 2018 Nov; 45(11):1357-1361. PubMed ID: 30168875
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
    Cossiez Cacard MA; Coulombe J; Bernard P; Kaci N; Bressieux JM; Souchon PF; Motte J; Legeai-Mallet L; Hadj-Rabia S; Eschard C
    J Eur Acad Dermatol Venereol; 2016 May; 30(5):897-8. PubMed ID: 25809207
    [No Abstract]   [Full Text] [Related]  

  • 4. Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
    Muguet Guenot L; Aubert H; Isidor B; Toutain A; Mazereeuw-Hautier J; Collet C; Bourrat E; Denis Musquer M; Barbarot S;
    Pediatr Dermatol; 2019 Mar; 36(2):242-246. PubMed ID: 30762251
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?
    Romeo A; Lodi M; Viri M; Parente E; Baldi M; Righini A; Milani D
    Pediatr Neurol; 2014 Apr; 50(4):427-30. PubMed ID: 24630288
    [TBL] [Abstract][Full Text] [Related]  

  • 6. FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
    Blomberg M; Jeppesen EM; Skovby F; Benfeldt E
    Dermatology; 2010; 220(4):297-305. PubMed ID: 20453470
    [TBL] [Abstract][Full Text] [Related]  

  • 7. p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
    Bengur FB; Ekmekci CG; Karaarslan E; Gunoz H; Alanay Y
    Eur J Med Genet; 2020 Feb; 63(2):103659. PubMed ID: 31048079
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Familial acanthosis nigricans with p.K650T FGFR3 mutation.
    Fukuchi K; Tatsuno K; Matsushita K; Kubo A; Ito T; Tokura Y
    J Dermatol; 2018 Feb; 45(2):207-210. PubMed ID: 29068064
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.
    Yao G; Wang G; Wang D; Su G
    Medicine (Baltimore); 2019 Jan; 98(4):e14157. PubMed ID: 30681580
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
    Berk DR; Boente Mdel C; Montanari D; Toloza MG; Primc NB; Prado MI; Bayliss SJ; Pique LM; Schrijver I
    Pediatr Dermatol; 2010; 27(6):664-6. PubMed ID: 21510009
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
    Leroy JG; Nuytinck L; Lambert J; Naeyaert JM; Mortier GR
    Am J Med Genet A; 2007 Dec; 143A(24):3144-9. PubMed ID: 18000903
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
    Porntaveetus T; Srichomthong C; Suphapeetiporn K; Shotelersuk V
    Am J Med Genet A; 2017 Oct; 173(10):2747-2752. PubMed ID: 28763161
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial acanthosis nigricans due to K650T FGFR3 mutation.
    Berk DR; Spector EB; Bayliss SJ
    Arch Dermatol; 2007 Sep; 143(9):1153-6. PubMed ID: 17875876
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.
    Wang H; Sun Y; Wu W; Wei X; Lan Z; Xie J
    Clin Chim Acta; 2013 Aug; 423():62-5. PubMed ID: 23726269
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
    Linnankivi T; Mäkitie O; Valanne L; Toiviainen-Salo S
    Am J Med Genet A; 2012 Dec; 158A(12):3119-25. PubMed ID: 23165795
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.
    Chen J; Yang J; Zhao S; Ying H; Li G; Xu C
    Gene; 2018 Jan; 641():355-360. PubMed ID: 29080836
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
    Korkmaz HA; Hazan F; Dizdarer C; Tükün A
    J Clin Res Pediatr Endocrinol; 2012 Dec; 4(4):220-2. PubMed ID: 23149434
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review.
    Fu J; Zhao Y; Wang T; Zhang Q; Xiao X
    BMC Med Genet; 2019 Jan; 20(1):8. PubMed ID: 30635042
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.
    Tahara U; Yasuda M; Yamada Y; Aoki S; Sato S; Amagai M; Kubo A
    J Hum Genet; 2021 Aug; 66(8):831-834. PubMed ID: 33580140
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.