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Results: 1 to 20 of 23

PubMed (Bookshelf cited) for MedGen (Select 375217)

1.

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
2.

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.

Lanfranconi S, Markus HS.

Stroke. 2010 Aug;41(8):e513-8. doi: 10.1161/STROKEAHA.110.581918. Epub 2010 Jun 17. Review.

3.

COL4A1 mutation in preterm intraventricular hemorrhage.

Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR; Pacifier and Breastfeeding Trial Group.

J Pediatr. 2009 Nov;155(5):743-5. doi: 10.1016/j.jpeds.2009.04.014.

4.

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P.

Eur J Paediatr Neurol. 2010 Mar;14(2):182-7. doi: 10.1016/j.ejpn.2009.04.010. Epub 2009 May 28.

PMID:
19477666
5.

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, Ikeuchi T, Kuwano R, Nishizawa M, Tsuji S, Onodera O.

N Engl J Med. 2009 Apr 23;360(17):1729-39. doi: 10.1056/NEJMoa0801560.

6.

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
7.

Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients.

Mine M, Tournier-Lasserve E.

Ann Neurol. 2009 Jan;65(1):1-2. doi: 10.1002/ana.21607. No abstract available.

PMID:
19194872
8.

Genetics of ischaemic stroke; single gene disorders.

Flossmann E.

Int J Stroke. 2006 Aug;1(3):131-9. doi: 10.1111/j.1747-4949.2006.00037.x. Review.

PMID:
18706033
9.

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P.

N Engl J Med. 2007 Dec 27;357(26):2687-95.

10.

Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG.

Neurology. 2007 Oct 16;69(16):1564-8.

PMID:
17938367
11.

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C.

Ann Neurol. 2007 Aug;62(2):177-84.

PMID:
17696175
12.

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP.

Nat Genet. 2007 Sep;39(9):1068-70. Epub 2007 Jul 29.

PMID:
17660820
13.

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. Epub 2007 Mar 22.

14.

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW.

N Engl J Med. 2006 Apr 6;354(14):1489-96.

15.

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
16.

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. Epub 2005 Aug 17.

17.

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.

18.

Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

Plaisier E, Alamowitch S, Gribouval O, Mougenot B, Gaudric A, Antignac C, Roullet E, Ronco P.

Kidney Int. 2005 Jun;67(6):2354-60.

PMID:
15882279
19.

Hereditary porencephaly: clinical and MRI findings in two Dutch families.

Mancini GM, de Coo IF, Lequin MH, Arts WF.

Eur J Paediatr Neurol. 2004;8(1):45-54.

PMID:
15023374
20.

Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

Vahedi K, Massin P, Guichard JP, Miocque S, Polivka M, Goutières F, Dress D, Chapon F, Ruchoux MM, Riant F, Joutel A, Gaudric A, Bousser MG, Tournier-Lasserve E.

Neurology. 2003 Jan 14;60(1):57-63.

PMID:
12525718
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