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Journal Abstract Search

132 related items for PubMed ID: 8776601

  • 1. 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; 5(6):843-7. PubMed ID: 8776601
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  • 2. 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
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  • 5. 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
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  • 6. A phenotypic variant of Knobloch syndrome.
    Williams TA, Kirkby GR, Williams D, Ainsworth JR.
    Ophthalmic Genet; 2008 Jun 01; 29(2):85-6. PubMed ID: 18484314
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  • 8. Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.
    Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S.
    Am J Med Genet A; 2003 May 15; 119A(1):15-9. PubMed ID: 12707952
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  • 9. A gene for Meckel syndrome maps to chromosome 11q13.
    Roume J, Genin E, Cormier-Daire V, Ma HW, Mehaye B, Attie T, Razavi-Encha F, Fallet-Bianco C, Buenerd A, Clerget-Darpoux F, Munnich A, Le Merrer M.
    Am J Hum Genet; 1998 Oct 15; 63(4):1095-101. PubMed ID: 9758620
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  • 10. Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
    Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C.
    Eur J Ophthalmol; 2021 Nov 15; 31(6):3349-3354. PubMed ID: 33238767
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  • 11. 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
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  • 12. 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 07; 23(1):77-84. PubMed ID: 14695535
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  • 14. Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report.
    Venkateshappa BM, Raju B, Rallo MS, Jumah F, Suresh SC, Gupta G, Nanda A.
    Pediatr Neurosurg; 2021 Jan 07; 56(3):274-278. PubMed ID: 33789317
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  • 16. 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 07; 71(6):1320-9. PubMed ID: 12415512
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  • 17. 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 07; 182(10):2239-2242. PubMed ID: 32700429
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  • 19. Homozygosity mapping at Alström syndrome to chromosome 2p.
    Collin GB, Marshall JD, Cardon LR, Nishina PM.
    Hum Mol Genet; 1997 Feb 07; 6(2):213-9. PubMed ID: 9063741
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  • 20. Autosomal dominant occipital cephalocele.
    Bassuk AG, McLone D, Bowman R, Kessler JA.
    Neurology; 2004 May 25; 62(10):1888-90. PubMed ID: 15159504
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