-
3
-
-
84855830033
-
Porencephaly
-
S. Re, H. Jg, Oxford University Press New York
-
A. Hunter Porencephaly S. Re, H. Jg, Human Malformations and related Anomalies 2006 Oxford University Press New York 645 654
-
(2006)
Human Malformations and Related Anomalies
, pp. 645-654
-
-
Hunter, A.1
-
4
-
-
1342304422
-
Hereditary porencephaly: Clinical and MRI findings in two Dutch families
-
DOI 10.1016/j.ejpn.2003.10.002
-
G.M. Mancini, I.F. de Coo, M.H. Lequin, and W.F. Arts Hereditary porencephaly: clinical and MRI findings in two Dutch families Eur. J. Paediatr. Neurol. 8 2004 45 54 (Pubitemid 38248080)
-
(2004)
European Journal of Paediatric Neurology
, vol.8
, Issue.1
, pp. 45-54
-
-
Mancini, G.M.S.1
De Coo, I.F.M.2
Lequin, M.H.3
Arts, W.F.4
-
5
-
-
0036808737
-
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly
-
DOI 10.1002/ajmg.10452
-
C. Vilain, N. Van Regemorter, A. Verloes, P. David, and P. Van Bogaert Neuroimaging fails to identify asymptomatic carriers of familial porencephaly Am. J. Med. Genet. 112 2002 198 202 (Pubitemid 35332187)
-
(2002)
American Journal of Medical Genetics
, vol.112
, Issue.2
, pp. 198-202
-
-
Vilain, C.1
Van Regemorter, N.2
Verloes, A.3
David, P.4
Van Bogaert, P.5
-
6
-
-
0142073808
-
Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection - An illustrative report
-
DOI 10.1002/pd.688
-
A. Moinuddin, R.C. McKinstry, K.A. Martin, and J.J. Neil Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection - an illustrative report Prenat. Diagn. 23 2003 797 800 (Pubitemid 37279863)
-
(2003)
Prenatal Diagnosis
, vol.23
, Issue.10
, pp. 797-800
-
-
Moinuddin, A.1
McKinstry, R.C.2
Martin, K.A.3
Neil, J.J.4
-
7
-
-
21044442223
-
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
-
DOI 10.1126/science.1109418
-
D.B. Gould, F.C. Phalan, G.J. Breedveld, S.E. van Mil, R.S. Smith, J.C. Schimenti, U. Aguglia, M.S. van der Knaap, P. Heutink, and S.W. John Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly Science 308 2005 1167 1171 (Pubitemid 40696433)
-
(2005)
Science
, vol.308
, Issue.5725
, pp. 1167-1171
-
-
Gould, D.B.1
Phalan, F.C.2
Breedveld, G.J.3
Van Mil, S.E.4
Smith, R.S.5
Schimenti, J.C.6
Aguglia, U.7
Van Der Knaap, M.S.8
Heutink, P.9
John, S.W.M.10
-
8
-
-
33745261734
-
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
-
DOI 10.1136/jmg.2005.035584
-
G. Breedveld, I.F. de Coo, M.H. Lequin, W.F. Arts, P. Heutink, D.B. Gould, S.W. John, B. Oostra, and G.M. Mancini Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly J. Med. Genet. 43 2006 490 495 (Pubitemid 43927322)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.6
, pp. 490-495
-
-
Breedveld, G.1
De Coo, I.F.2
Lequin, M.H.3
Arts, W.F.M.4
Heutink, P.5
Gould, D.B.6
John, S.W.M.7
Oostra, B.8
Mancini, G.M.S.9
-
9
-
-
77955173802
-
COL4A1 mutations as a monogenic cause of cerebral small vessel disease: A systematic review
-
S. Lanfranconi, and H.S. Markus COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review Stroke 41 2010 e513 e518
-
(2010)
Stroke
, vol.41
-
-
Lanfranconi, S.1
Markus, H.S.2
-
10
-
-
79952412915
-
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly
-
M.E. Meuwissen, L.S. de Vries, H.A. Verbeek, M.H. Lequin, P.P. Govaert, R. Schot, F.M. Cowan, R. Hennekam, P. Rizzu, and F.W. Verheijen Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly Neurology 76 2011 844 846
-
(2011)
Neurology
, vol.76
, pp. 844-846
-
-
Meuwissen, M.E.1
De Vries, L.S.2
Verbeek, H.A.3
Lequin, M.H.4
Govaert, P.P.5
Schot, R.6
Cowan, F.M.7
Hennekam, R.8
Rizzu, P.9
Verheijen, F.W.10
-
12
-
-
0025904728
-
The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper
-
J. Engel, and D.J. Prockop The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper Annu. Rev. Biophys. Biophys. Chem. 20 1991 137 152
-
(1991)
Annu. Rev. Biophys. Biophys. Chem.
, vol.20
, pp. 137-152
-
-
Engel, J.1
Prockop, D.J.2
-
13
-
-
0012441397
-
Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans
-
A. Gajko-Galicka Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans Acta Biochim. Pol. 49 2002 433 441 (Pubitemid 135686790)
-
(2002)
Acta Biochimica Polonica
, vol.49
, Issue.2
, pp. 433-441
-
-
Gajko-Galicka, A.1
-
14
-
-
34247866422
-
Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: An extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles
-
DOI 10.1534/genetics.106.064733
-
J. Favor, C.J. Gloeckner, D. Janik, M. Klempt, A. Neuhäuser-Klaus, W. Pretsch, W. Schmahl, and L. Quintanilla-Fend Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles Genetics 175 2007 725 736 (Pubitemid 46798271)
-
(2007)
Genetics
, vol.175
, Issue.2
, pp. 725-736
-
-
Favor, J.1
Gloeckner, C.J.2
Janik, D.3
Klempt, M.4
Neuhauser-Klaus, A.5
Pretsch, W.6
Schmahl, W.7
Quintanilla-Fend, L.8
-
15
-
-
78651387761
-
Clinical spectrum of type IV collagen (COL4A1) mutations: A novel genetic multisystem disease
-
K. Vahedi, and S. Alamowitch Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease Curr. Opin. Neurol. 24 2011 63 68
-
(2011)
Curr. Opin. Neurol.
, vol.24
, pp. 63-68
-
-
Vahedi, K.1
Alamowitch, S.2
-
16
-
-
35148828650
-
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
-
DOI 10.1002/ana.21191
-
I. Sibon, I. Coupry, P. Menegon, J.P. Bouchet, P. Gorry, I. Burgelin, P. Calvas, I. Orignac, V. Dousset, and D. Lacombe COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke Ann. Neurol. 62 2007 177 184 (Pubitemid 47546503)
-
(2007)
Annals of Neurology
, vol.62
, Issue.2
, pp. 177-184
-
-
Sibon, I.1
Coupry, I.2
Menegon, P.3
Bouchet, J.-P.4
Gorry, P.5
Burgelin, I.6
Calvas, P.7
Orignac, I.8
Dousset, V.9
Lacombe, D.10
Orgogozo, J.-M.11
Arveiler, B.12
Goizet, C.13
-
17
-
-
73349084959
-
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
-
S. Alamowitch, E. Plaisier, P. Favrole, C. Prost, Z. Chen, T. Van Agtmael, B. Marro, and P. Ronco Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome Neurology 73 2009 1873 1882
-
(2009)
Neurology
, vol.73
, pp. 1873-1882
-
-
Alamowitch, S.1
Plaisier, E.2
Favrole, P.3
Prost, C.4
Chen, Z.5
Van Agtmael, T.6
Marro, B.7
Ronco, P.8
-
18
-
-
33645498692
-
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
-
D.B. Gould, F.C. Phalan, S.E. van Mil, J.P. Sundberg, K. Vahedi, P. Massin, M.G. Bousser, P. Heutink, J.H. Miner, E. Tournier-Lasserve, and S.W. John Role of COL4A1 in small-vessel disease and hemorrhagic stroke N. Engl. J. Med. 354 2006 1489 1496
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 1489-1496
-
-
Gould, D.B.1
Phalan, F.C.2
Van Mil, S.E.3
Sundberg, J.P.4
Vahedi, K.5
Massin, P.6
Bousser, M.G.7
Heutink, P.8
Miner, J.H.9
Tournier-Lasserve, E.10
John, S.W.11
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