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Items: 1 to 20 of 124

1.

A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Değerliyurt A, Ceylaner G, Koçak H, Bilginer Gürbüz B, Cihan BS, Rizzu P, Ceylaner S.

Genet Couns. 2012;23(2):185-93.

PMID:
22876576
2.

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.

J Med Genet. 2006 Jun;43(6):490-5.

3.

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

de Vries LS, Koopman C, Groenendaal F, Van Schooneveld M, Verheijen FW, Verbeek E, Witkamp TD, van der Worp HB, Mancini G.

Ann Neurol. 2009 Jan;65(1):12-8. doi: 10.1002/ana.21525.

PMID:
19194877
4.

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H.

Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736.

PMID:
23225343
5.

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.

Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM.

Neurology. 2011 Mar 1;76(9):844-6. doi: 10.1212/WNL.0b013e31820e7751. No abstract available.

PMID:
21357838
6.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20.

7.

Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.

Vermeulen RJ, Peeters-Scholte C, Van Vugt JJ, Barkhof F, Rizzu P, van der Schoor SR, van der Knaap MS.

Neuropediatrics. 2011 Feb;42(1):1-3. doi: 10.1055/s-0031-1275343. Erratum in: Neuropediatrics. 2011 Apr;42(2):e1. Van Vught, J J M G [corrected to Van Vugt, J J M].

PMID:
21500141
8.

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.

Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P.

Am J Med Genet A. 2010 Oct;152A(10):2550-5. doi: 10.1002/ajmg.a.33659.

PMID:
20818663
9.

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW.

Science. 2005 May 20;308(5725):1167-71.

10.

Childhood presentation of COL4A1 mutations.

Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P.

Dev Med Child Neurol. 2012 Jun;54(6):569-74. doi: 10.1111/j.1469-8749.2011.04198.x. Review.

11.

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.

Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K.

Am J Med Genet A. 2015 Jan;167A(1):156-8. doi: 10.1002/ajmg.a.36823.

PMID:
25425218
12.

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H.

Am J Hum Genet. 2012 Jan 13;90(1):86-90. doi: 10.1016/j.ajhg.2011.11.016.

13.

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM.

Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Review.

PMID:
25719457
14.
15.

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Ha TT, Sadleir LG, Mandelstam SA, Paterson SJ, Scheffer IE, Gecz J, Corbett MA.

Am J Med Genet A. 2016 Apr;170A(4):1059-63. doi: 10.1002/ajmg.a.37527.

PMID:
26708157
16.

Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.

Gasparini S, Qualtieri A, Ferlazzo E, Cianci V, Patitucci A, Spadafora P, Aguglia U.

Neurol Sci. 2016 Mar;37(3):459-63. doi: 10.1007/s10072-015-2435-3.

PMID:
26686511
17.

Familial arachnoid cysts in association with autosomal dominant polycystic kidney disease.

Alehan FK, Gürakan B, Ağildere M.

Pediatrics. 2002 Jul;110(1 Pt 1):e13.

PMID:
12093994
18.

Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.

Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A.

Curr Med Chem. 2010;17(13):1317-24. Review.

PMID:
20166936
19.

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.

Vahedi K, Kubis N, Boukobza M, Arnoult M, Massin P, Tournier-Lasserve E, Bousser MG.

Stroke. 2007 May;38(5):1461-4.

20.

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

van der Knaap MS, Smit LM, Barkhof F, Pijnenburg YA, Zweegman S, Niessen HW, Imhof S, Heutink P.

Ann Neurol. 2006 Mar;59(3):504-11.

PMID:
16374828

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