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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

153 related items for PubMed ID: 9677068

  • 1. Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.
    Wilson C, Aftimos S, Pereira A, McKay R.
    Am J Med Genet; 1998 Jul 07; 78(3):286-90. PubMed ID: 9677068
    [Abstract] [Full Text] [Related]

  • 2. A phenotypic variant of Knobloch syndrome.
    Williams TA, Kirkby GR, Williams D, Ainsworth JR.
    Ophthalmic Genet; 2008 Jun 07; 29(2):85-6. PubMed ID: 18484314
    [Abstract] [Full Text] [Related]

  • 3. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome.
    Seaver LH, Joffe L, Spark RP, Smith BL, Hoyme HE.
    Am J Med Genet; 1993 Apr 15; 46(2):203-8. PubMed ID: 8484411
    [Abstract] [Full Text] [Related]

  • 4. Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.
    Passos-Bueno MR, Marie SK, Monteiro M, Neustein I, Whittle MR, Vainzof M, Zatz M.
    Am J Med Genet; 1994 Aug 15; 52(2):170-3. PubMed ID: 7802003
    [Abstract] [Full Text] [Related]

  • 5. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.
    Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR.
    Hum Mol Genet; 1996 Jun 15; 5(6):843-7. PubMed ID: 8776601
    [Abstract] [Full Text] [Related]

  • 6. Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.
    Khaliq S, Abid A, White DR, Johnson CA, Ismail M, Khan A, Ayub Q, Sultana S, Maher ER, Mehdi SQ.
    Am J Med Genet A; 2007 Dec 01; 143A(23):2768-74. PubMed ID: 17975799
    [Abstract] [Full Text] [Related]

  • 7. The second report of Knobloch syndrome.
    Czeizel AE, Göblyös P, Kustos G, Mester E, Paraicz E.
    Am J Med Genet; 1992 Apr 01; 42(6):777-9. PubMed ID: 1554013
    [Abstract] [Full Text] [Related]

  • 8. [Knobloch syndrome: a case report].
    Liu QY, Cui XH, Li Z, Shao Y, Xing DJ, Li WB, Li XR.
    Zhonghua Yan Ke Za Zhi; 2022 Jun 11; 58(6):457-459. PubMed ID: 35692029
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
    Li S, Wang Y, Sun L, Yan W, Huang L, Zhang Z, Zhang T, Ding X.
    Genes (Basel); 2021 Sep 26; 12(10):. PubMed ID: 34680907
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Molecular and Clinical Findings in Patients With Knobloch Syndrome.
    Hull S, Arno G, Ku CA, Ge Z, Waseem N, Chandra A, Webster AR, Robson AG, Michaelides M, Weleber RG, Davagnanam I, Chen R, Holder GE, Pennesi ME, Moore AT.
    JAMA Ophthalmol; 2016 Jul 01; 134(7):753-62. PubMed ID: 27259167
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Autosomal recessive vitreoretinopathy and encephaloceles.
    Cook GR, Knobloch WH.
    Am J Ophthalmol; 1982 Jul 01; 94(1):18-25. PubMed ID: 6979935
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
    Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR.
    Am J Hum Genet; 2002 Dec 01; 71(6):1320-9. PubMed ID: 12415512
    [Abstract] [Full Text] [Related]

  • 20. Phenotypic variation in Meckel syndrome.
    Seller MJ.
    Clin Genet; 1981 Jul 01; 20(1):74-7. PubMed ID: 7296953
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.