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Results: 19

Select item 223996871.

The distinct ophthalmic phenotype of Knobloch syndrome in children.

Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS.

Br J Ophthalmol. 2012 Jun;96(6):890-5. doi: 10.1136/bjophthalmol-2011-301396. Epub 2012 Mar 7.

PMID:: 22399687; [PubMed - indexed for MEDLINE]

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Select item 218626742.

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS.

J Med Genet. 2011 Sep;48(9):597-601. doi: 10.1136/jmedgenet-2011-100306.

PMID:: 21862674; [PubMed - indexed for MEDLINE]

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Select item 211633483.

The multiple functions of collagen XVIII in development and disease.

Seppinen L, Pihlajaniemi T.

Matrix Biol. 2011 Mar;30(2):83-92. doi: 10.1016/j.matbio.2010.11.001. Epub 2010 Dec 14. Review.

PMID:: 21163348; [PubMed - indexed for MEDLINE]

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Select item 210857084.

Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.

Bishop JR, Passos-Bueno MR, Fong L, Stanford KI, Gonzales JC, Yeh E, Young SG, Bensadoun A, Witztum JL, Esko JD, Moulton KS.

PLoS One. 2010 Nov 10;5(11):e13919. doi: 10.1371/journal.pone.0013919.

PMID:: 21085708; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 209791945.

Locus heterogeneity and Knobloch syndrome.

Joyce S, Tee L, Abid A, Khaliq S, Mehdi SQ, Maher ER.

Am J Med Genet A. 2010 Nov;152A(11):2880-1. doi: 10.1002/ajmg.a.33619. No abstract available.

PMID:: 20979194; [PubMed - indexed for MEDLINE]

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Select item 207993296.

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

Mahajan VB, Olney AH, Garrett P, Chary A, Dragan E, Lerner G, Murray J, Bassuk AG.

Am J Med Genet A. 2010 Nov;152A(11):2875-9. doi: 10.1002/ajmg.a.33621.

PMID:: 20799329; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 198958027.

Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis.

Kague E, Bessling SL, Lee J, Hu G, Passos-Bueno MR, Fisher S.

Dev Biol. 2010 Jan 15;337(2):496-505. doi: 10.1016/j.ydbio.2009.10.028. Epub 2009 Nov 3.

PMID:: 19895802; [PubMed - indexed for MEDLINE]

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Select item 198130278.

Unexpected matrix diseases and novel therapeutic strategies.

Nicolae C, Olsen BR.

Cell Tissue Res. 2010 Jan;339(1):155-65. doi: 10.1007/s00441-009-0874-y. Epub 2009 Oct 8. Review.

PMID:: 19813027; [PubMed - indexed for MEDLINE]

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Select item 189359879.

Syndromes, disorders and maternal risk factors associated with neural tube defects (V).

Chen CP.

Taiwan J Obstet Gynecol. 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. Review.

PMID:: 18935987; [PubMed - indexed for MEDLINE]

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Select item 1848431410.

A phenotypic variant of Knobloch syndrome.

Williams TA, Kirkby GR, Williams D, Ainsworth JR.

Ophthalmic Genet. 2008 Jun;29(2):85-6. doi: 10.1080/13816810701850041.

PMID:: 18484314; [PubMed - indexed for MEDLINE]

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Select item 1844500011.

Knobloch syndrome: novel intra-oral findings.

O'Connell AC, Toner M, Murphy S.

Int J Paediatr Dent. 2009 May;19(3):213-5. doi: 10.1111/j.1365-263X.2008.00923.x. Epub 2008 Apr 28. No abstract available.

PMID:: 18445000; [PubMed - indexed for MEDLINE]

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Select item 1797579912.

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 1;143A(23):2768-74.

PMID:: 17975799; [PubMed - indexed for MEDLINE]

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Select item 1754665213.

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A.

Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. No abstract available.

PMID:: 17546652; [PubMed - indexed for MEDLINE]

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Select item 1653221214.

Mutations in collagen 18A1 and their relevance to the human phenotype.

Passos-Bueno MR, Suzuki OT, Armelin-Correa LM, Sertié AL, Errera FI, Bagatini K, Kok F, Leite KR.

An Acad Bras Cienc. 2006 Mar;78(1):123-31. Epub 2006 Mar 8. Review.

PMID:: 16532212; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1611520115.

Endostatin phenylalanines 31 and 34 define a receptor binding site.

Stahl S, Gaetzner S, Mueller TD, Felbor U.

Genes Cells. 2005 Sep;10(9):929-39.

PMID:: 16115201; [PubMed - indexed for MEDLINE]

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Select item 1585788616.

Physiological role of collagen XVIII and endostatin.

Marneros AG, Olsen BR.

FASEB J. 2005 May;19(7):716-28. Review.

PMID:: 15857886; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1571451617.

How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?

Suzuki OT, Bagatini K, Sertié AL, Passos-Bueno MR.

Hum Mutat. 2005 Mar;25(3):314-5; author reply 316. No abstract available.

PMID:: 15714516; [PubMed - indexed for MEDLINE]

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Select item 1561476218.

Non-heparan sulfate-binding interactions of endostatin/collagen XVIII in murine development.

Rychkova N, Stahl S, Gaetzner S, Felbor U.

Dev Dyn. 2005 Feb;232(2):399-407.

PMID:: 15614762; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1546555119.

Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye.

Duh EJ, Yao YG, Dagli M, Goldberg MF.

Ophthalmology. 2004 Oct;111(10):1885-8.

PMID:: 15465551; [PubMed - indexed for MEDLINE]

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2 free full-text articles in PubMed Central

Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans. [PLoS One. 2010]
Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.
Bishop JR, Passos-Bueno MR, Fong L, Stanford KI, Gonzales JC, Yeh E, Young SG, Bensadoun A, Witztum JL, Esko JD, et al. PLoS One. 2010 Nov 10; 5(11):e13919. Epub 2010 Nov 10.
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. [Am J Med Genet A. 2010]
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
Mahajan VB, Olney AH, Garrett P, Chary A, Dragan E, Lerner G, Murray J, Bassuk AG. Am J Med Genet A. 2010 Nov; 152A(11):2875-9.

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