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 *

75 related articles for article (PubMed ID: 24706454)

  • 1. Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
    Jamsheer A; Smigiel R; Jakubiak A; Zemojtel T; Socha M; Robinson PN; Mundlos S
    Birth Defects Res A Clin Mol Teratol; 2014 Apr; 100(4):314-8. PubMed ID: 24706454
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
    Jamsheer A; Zemojtel T; Kolanczyk M; Stricker S; Hecht J; Krawitz P; Doelken SC; Glazar R; Socha M; Mundlos S
    J Med Genet; 2013 Sep; 50(9):579-84. PubMed ID: 23709756
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
    Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Annerén G; Arner M; Pettersson M; Jäntti N; Rosberg HE; Cattini PA; Nordenskjöld A; Mäkitie O; Grigelioniene G; Nordgren A
    Mol Genet Genomic Med; 2014 Sep; 2(5):402-11. PubMed ID: 25333065
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion.
    Jones B; Byers H; Watson JS; Newman WG
    Clin Dysmorphol; 2014 Jul; 23(3):95-97. PubMed ID: 24878828
    [No Abstract]   [Full Text] [Related]  

  • 6. A family with X-linked recessive fusion of metacarpals IV and V.
    Lonardo F; Della Monica M; Riccardi G; Riccio I; Riccio V; Scarano G
    Am J Med Genet A; 2004 Feb; 124A(4):407-10. PubMed ID: 14735591
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
    Ramprasad VL; Thool A; Murugan S; Nancarrow D; Vyas P; Rao SK; Vidhya A; Ravishankar K; Kumaramanickavel G
    Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):17-23. PubMed ID: 15623749
    [TBL] [Abstract][Full Text] [Related]  

  • 8. X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V.
    Annerén G; Amilon A
    Am J Med Genet; 1994 Aug; 52(2):248-50. PubMed ID: 7802024
    [No Abstract]   [Full Text] [Related]  

  • 9. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
    Parrini E; Ramazzotti A; Dobyns WB; Mei D; Moro F; Veggiotti P; Marini C; Brilstra EH; Dalla Bernardina B; Goodwin L; Bodell A; Jones MC; Nangeroni M; Palmeri S; Said E; Sander JW; Striano P; Takahashi Y; Van Maldergem L; Leonardi G; Wright M; Walsh CA; Guerrini R
    Brain; 2006 Jul; 129(Pt 7):1892-906. PubMed ID: 16684786
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
    Tsurusaki Y; Kosho T; Hatasaki K; Narumi Y; Wakui K; Fukushima Y; Doi H; Saitsu H; Miyake N; Matsumoto N
    Clin Genet; 2013 Feb; 83(2):135-44. PubMed ID: 22548404
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
    Aten E; Sun Y; Almomani R; Santen GW; Messemaker T; Maas SM; Breuning MH; den Dunnen JT
    Hum Mutat; 2013 Mar; 34(3):430-4. PubMed ID: 23169394
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.
    Pauws E; Peskett E; Boissin C; Hoshino A; Mengrelis K; Carta E; Abruzzo MA; Lees M; Moore GE; Erickson RP; Stanier P
    Clin Genet; 2013 Apr; 83(4):352-8. PubMed ID: 22784330
    [TBL] [Abstract][Full Text] [Related]  

  • 13. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
    Jalkanen R; Mäntyjärvi M; Tobias R; Isosomppi J; Sankila EM; Alitalo T; Bech-Hansen NT
    J Med Genet; 2006 Aug; 43(8):699-704. PubMed ID: 16505158
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial short fifth metacarpals and insulin resistance.
    Hyari M; Hamamy H; Barham M; Al-Hadidy A; Ajlouni K
    Skeletal Radiol; 2006 Sep; 35(9):702-5. PubMed ID: 16132981
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
    Nagel M; Nagorka S; Gross O
    Hum Mutat; 2005 Jul; 26(1):60. PubMed ID: 15954103
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
    Ronce N; Maystadt I; Hubert C; Vonwill S; Devriendt K; Moizard MP; Raynaud M
    Clin Genet; 2012 Jul; 82(1):93-6. PubMed ID: 22211847
    [No Abstract]   [Full Text] [Related]  

  • 17. Comparative genomics on FGF16 orthologs.
    Katoh Y; Katoh M
    Int J Mol Med; 2005 Nov; 16(5):959-63. PubMed ID: 16211270
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital synostosis between the fourth and fifth metacarpal bones.
    Miura T
    J Hand Surg Am; 1988 Jan; 13(1):83-8. PubMed ID: 3351234
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
    Khan S; Basit S; Zimri FK; Ali N; Ali G; Ansar M; Ahmad W
    Clin Genet; 2012 Jul; 82(1):48-55. PubMed ID: 21554266
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
    Weaver KN; El Hallek M; Hopkin RJ; Sund KL; Henrickson M; Del Gaudio D; Yuksel A; Acar GO; Bober MB; Kim J; Boyadjiev SA
    Am J Med Genet A; 2014 Apr; 164A(4):1062-8. PubMed ID: 24458983
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.