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 *

101 related articles for article (PubMed ID: 19006219)

  • 1. A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones.
    Heyen CA; Delk PR; Bull MJ; Weaver DD
    Am J Med Genet A; 2008 Dec; 146A(24):3120-5. PubMed ID: 19006219
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.
    Lah M; Niranjan T; Srikanth S; Holloway L; Schwartz CE; Wang T; Weaver DD
    Am J Med Genet A; 2016 Apr; 170A(4):881-90. PubMed ID: 26804200
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Renal coloboma syndrome.
    Dureau P; Attie-Bitach T; Salomon R; Bettembourg O; Amiel J; Uteza Y; Dufier JL
    Ophthalmology; 2001 Oct; 108(10):1912-6. PubMed ID: 11581073
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Renal-coloboma syndrome].
    Asensio Sánchez VM; Corral Azor A; Bartolomé Aragón A; De Paz García M
    Arch Soc Esp Oftalmol; 2002 Nov; 77(11):635-8. PubMed ID: 12410411
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Differences in Optic Disc Characteristics of Primary Congenital Glaucoma, Juvenile, and Adult Onset Open Angle Glaucoma Patients.
    Gupta V; James MK; Singh A; Kumar S; Gupta S; Sharma A; Sihota R; Kennedy DJ
    J Glaucoma; 2016 Mar; 25(3):239-43. PubMed ID: 25265002
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Hydrophthalmia and configuration of the optic disc (author's transl)].
    Lisch K
    Klin Monbl Augenheilkd; 1976 Mar; 168(3):330-7. PubMed ID: 966562
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?
    Kondoh T; Yamamoto T; Kono Y; Matsumoto T; Sugawara H; Matsumoto N; Moriuchi H
    Am J Med Genet; 2001 Jul; 102(1):63-7. PubMed ID: 11471174
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.
    Dale RC; Gornall H; Singh-Grewal D; Alcausin M; Rice GI; Crow YJ
    Am J Med Genet A; 2010 Apr; 152A(4):938-42. PubMed ID: 20358604
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An additional case of pachygyria, joint contractures and facial abnormalities.
    Levin ML; Lupski JR; Carpenter RJ; Gerson LP; Greenberg F
    Clin Dysmorphol; 1993 Oct; 2(4):365-8. PubMed ID: 8305968
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Early diagnosis of the papillorenal syndrome by optic disc morphology.
    Khan AO; Nowilaty SR
    J Neuroophthalmol; 2005 Sep; 25(3):209-11. PubMed ID: 16148630
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Birth weight and optic nerve head parameters.
    Samarawickrama C; Huynh SC; Liew G; Burlutsky G; Mitchell P
    Ophthalmology; 2009 Jun; 116(6):1112-8. PubMed ID: 19395087
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ranking of optic disc variables for detection of glaucomatous optic nerve damage.
    Jonas JB; Bergua A; Schmitz-Valckenberg P; Papastathopoulos KI; Budde WM
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1764-73. PubMed ID: 10845597
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.
    Martínez-Frías ML; Toral JF; López-Grondona F; Mendioroz J; Bermejo E
    Am J Med Genet A; 2005 Sep; 137A(3):288-91. PubMed ID: 16088912
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Optic disc and peripapillary morphology in unilateral nonarteritic anterior ischemic optic neuropathy and age- and refraction-matched normals.
    Saito H; Tomidokoro A; Tomita G; Araie M; Wakakura M
    Ophthalmology; 2008 Sep; 115(9):1585-90. PubMed ID: 18342941
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.
    Barratt TM; Simmonds HA; Cameron JS; Potter CF; Rose GA; Arkell DG; Williams DI
    Arch Dis Child; 1979 Jan; 54(1):25-31. PubMed ID: 420519
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A new X-linked multiple congenital anomalies/mental retardation syndrome.
    Golabi M; Ito M; Hall BD
    Am J Med Genet; 1984 Jan; 17(1):367-74. PubMed ID: 6711604
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Optic disc measurements for cup depth with computerized image analysis in normal subjects and case of ocular hypertension and glaucoma].
    Nanba K; Iwata K
    Nippon Ganka Gakkai Zasshi; 1993 Jan; 97(1):117-21. PubMed ID: 8434530
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The optic disc is minimal in children with idiopathic intracranial hypertension.
    Dai S; Trimboli C; Buncic JR
    J Child Neurol; 2013 Oct; 28(10):1245-9. PubMed ID: 23034982
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked cubitus valgus with mental retardation and typical face.
    Jones KL; Kosaki K; Hall BD
    Am J Med Genet A; 2003 Nov; 123A(1):33-6. PubMed ID: 14556244
    [TBL] [Abstract][Full Text] [Related]  

  • 20. What optic disc parameters are most accurately assessed using the direct ophthalmoscope?
    Theodossiades J; Murdoch I
    Eye (Lond); 2001 Jun; 15(Pt 3):283-7. PubMed ID: 11450721
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.