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Items: 1 to 20 of 145

1.

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.

Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M.

Hum Mol Genet. 2000 May 22;9(9):1351-5.

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3.

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.

Battistini S, Rocchi R, Cerase A, Citterio A, Tassi L, Lando G, Patrosso MC, Galli R, Brunori P, Sgrò DL, Pitillo G, Lo Russo G, Marocchi A, Penco S.

Arch Neurol. 2007 Jun;64(6):843-8.

PMID:
17562932
4.

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

Cavé-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E.

Eur J Hum Genet. 2002 Nov;10(11):733-40.

5.

Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.

Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P.

J Eur Acad Dermatol Venereol. 2009 Sep;23(9):1066-72. doi: 10.1111/j.1468-3083.2009.03263.x. Epub 2009 Apr 29.

PMID:
19453802
6.

Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.

Toll A, Parera E, Giménez-Arnau AM, Pou A, Lloreta J, Limaye N, Vikkula M, Pujol RM.

Dermatology. 2009;218(4):307-13. doi: 10.1159/000199461. Epub 2009 Jan 31.

7.

Mutations in KRIT1 in familial cerebral cavernous malformations.

Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC.

Neurosurgery. 2000 May;46(5):1272-7; discussion 1277-9.

PMID:
10807272
8.

A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations.

Ji BH, Qin W, Sun T, Feng GY, He L, Wang YJ.

Yi Chuan Xue Bao. 2006 Feb;33(2):105-10.

PMID:
16529293
9.

Identification of Krit1B: a novel alternative splicing isoform of cerebral cavernous malformation gene-1.

Retta SF, Avolio M, Francalanci F, Procida S, Balzac F, Degani S, Tarone G, Silengo L.

Gene. 2004 Jan 21;325:63-78.

PMID:
14697511
10.

Mutational analysis of 206 families with cavernous malformations.

Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M.

J Neurosurg. 2003 Jul;99(1):38-43.

PMID:
12854741
11.

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.

Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E.

Nat Genet. 1999 Oct;23(2):189-93.

PMID:
10508515
12.

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.

Chen DH, Lipe HP, Qin Z, Bird TD.

J Neurol Sci. 2002 Apr 15;196(1-2):91-6.

PMID:
11959162
13.

An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.

Labauge P, Enjolras O, Bonerandi JJ, Laberge S, Dandurand M, Joujoux JM, Tournier-Lasserve E.

Ann Neurol. 1999 Feb;45(2):250-4.

PMID:
9989629
14.

Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.

Pileggi S, Buscone S, Ricci C, Patrosso MC, Marocchi A, Brunori P, Battistini S, Penco S.

J Mol Neurosci. 2010 Oct;42(2):235-42. doi: 10.1007/s12031-010-9360-y. Epub 2010 Apr 24.

PMID:
20419355
15.

Identification of two novel mutations and of a novel critical region in the KRIT1 gene.

Guarnieri V, Muscarella LA, Amoroso R, Quattrone A, Abate ME, Coco M, Catapano D, D'Angelo VA, Zelante L, D'Agruma L.

Neurogenetics. 2007 Jan;8(1):29-37. Epub 2006 Oct 17.

PMID:
17043900
16.

Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.

Marini V, Ferrera L, Dorcaratto A, Viale G, Origone P, Mareni C, Garrè C.

J Neurol Sci. 2003 Aug 15;212(1-2):75-8.

PMID:
12810002
17.

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.

Denier C, Labauge P, Brunereau L, Cavé-Riant F, Marchelli F, Arnoult M, Cecillon M, Maciazek J, Joutel A, Tournier-Lasserve E; Sociéte Française de Neurochirgurgie; Sociéte de Neurochirurgie de Langue Française.

Ann Neurol. 2004 Feb;55(2):213-20.

PMID:
14755725
18.

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA.

Hum Mol Genet. 1999 Nov;8(12):2325-33.

19.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.

Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA.

Hum Mutat. 2006 Jan;27(1):118.

PMID:
16329096
20.

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.

Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA.

Eur J Med Genet. 2009 Sep-Oct;52(5):344-8. doi: 10.1016/j.ejmg.2009.05.002. Epub 2009 May 18.

PMID:
19454328
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