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

222 related items for PubMed ID: 7802003

  • 1. 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]

  • 2.
    ; . PubMed ID:
    [No 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. A phenotypic variant of Knobloch syndrome.
    Williams TA, Kirkby GR, Williams D, Ainsworth JR.
    Ophthalmic Genet; 2008 Jun 15; 29(2):85-6. PubMed ID: 18484314
    [Abstract] [Full Text] [Related]

  • 5. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
    Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M.
    Hum Mutat; 2004 Jan 15; 23(1):77-84. PubMed ID: 14695535
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. 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]

  • 9. The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.
    Mendez HM, Paskulin GA, Vallandro C.
    Am J Med Genet; 1985 Oct 01; 22(2):223-8. PubMed ID: 4050854
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 12. Knobloch syndrome in a patient from Chile.
    Nakousi-Capurro N, Huserman J, Castillo S, Herrera L, Romero P, Pizarro F, Quezada C, Cea F.
    Am J Med Genet A; 2020 Oct 01; 182(10):2239-2242. PubMed ID: 32700429
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Setleis syndrome: autosomal recessive or autosomal dominant inheritance?
    al-Gazali LI, al-Talabani J.
    Clin Dysmorphol; 1996 Jul 07; 5(3):249-53. PubMed ID: 8818454
    [Abstract] [Full Text] [Related]

  • 15. [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]

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

  • 17. Kearns-Sayre syndrome.
    Nemet P, Godel V, Lazar M.
    Birth Defects Orig Artic Ser; 1982 Jun 11; 18(6):263-8. PubMed ID: 7171761
    [Abstract] [Full Text] [Related]

  • 18. Brief clinical report: HARD (+/- E) syndrome: report of a sixth family with support for autosomal-recessive inheritance.
    Aymé S, Mattei JF.
    Am J Med Genet; 1983 Apr 11; 14(4):759-66. PubMed ID: 6405616
    [Abstract] [Full Text] [Related]

  • 19. von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.
    Lubinsky MS, Kahler SG, Speer IE, Hoyme HE, Kirillova IA, Lurie IW.
    Am J Med Genet; 1994 Sep 01; 52(3):272-8. PubMed ID: 7810558
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.