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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1929 1
1939 1
1940 1
1946 2
1947 2
1948 1
1949 2
1950 2
1951 2
1952 6
1953 5
1954 1
1955 4
1956 1
1957 2
1958 5
1959 3
1960 1
1961 2
1962 1
1963 1
1964 1
1965 2
1967 4
1968 8
1969 1
1970 2
1971 2
1972 2
1973 3
1974 3
1975 3
1976 4
1977 17
1978 10
1979 10
1980 10
1981 6
1982 11
1983 12
1984 11
1985 7
1986 13
1987 12
1988 12
1989 13
1990 7
1991 19
1992 9
1993 11
1994 11
1995 11
1996 7
1997 16
1998 13
1999 9
2000 9
2001 9
2002 9
2003 6
2004 12
2005 10
2006 11
2007 10
2008 10
2009 10
2010 16
2011 17
2012 28
2013 13
2014 21
2015 18
2016 17
2017 15
2018 11
2019 16
2020 23
2021 16
2022 15
2023 9
2024 4

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Search Results

625 results

Results by year

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Page 1
Familial porencephaly.
Sensi A, Cerruti S, Calzolari E, Vesce F. Sensi A, et al. Clin Genet. 1990 Nov;38(5):396-7. Clin Genet. 1990. PMID: 2282721 No abstract available.
Familial porencephaly.
Shastri NJ, Bharani SA, Modi UJ, Trivedi C. Shastri NJ, et al. Indian J Pediatr. 1993 May-Jun;60(3):459-63. doi: 10.1007/BF02751216. Indian J Pediatr. 1993. PMID: 8253500 No abstract available.
Familial porencephaly.
Berg RA, Aleck KA, Kaplan AM. Berg RA, et al. Arch Neurol. 1983 Sep;40(9):567-9. doi: 10.1001/archneur.1983.04050080067013. Arch Neurol. 1983. PMID: 6615288
We studied familial porencephaly consistent with autosomal dominant or recessive inheritance in two families. ...Use of noninvasive neuroradiologic techniques, including computed tomography and ultrasonography, may help to delineate groups of children with smaller p …
We studied familial porencephaly consistent with autosomal dominant or recessive inheritance in two families. ...Use of noninv …
Collagen glycosylation.
Hennet T. Hennet T. Curr Opin Struct Biol. 2019 Jun;56:131-138. doi: 10.1016/j.sbi.2019.01.015. Epub 2019 Feb 26. Curr Opin Struct Biol. 2019. PMID: 30822656 Review.
Mutations in the COLGALT1 gene cause cerebral small vessel abnormality and porencephaly, which are common in collagen type IV deficiency. Beyond the strongly conserved Glc(alpha1-2)Gal(beta1-O) glycan, additional forms of collagen glycosylation have been described in the d …
Mutations in the COLGALT1 gene cause cerebral small vessel abnormality and porencephaly, which are common in collagen type IV deficie …
Reply.
Nau SA, McCourt EA, Jung JL. Nau SA, et al. J AAPOS. 2019 Dec;23(6):362. doi: 10.1016/j.jaapos.2019.09.004. Epub 2019 Sep 30. J AAPOS. 2019. PMID: 31580895 No abstract available.
COL4A1-Related Disorders.
Plaisier E, Ronco P. Plaisier E, et al. 2009 Jun 25 [updated 2016 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Jun 25 [updated 2016 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301768 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings ( …
CLINICAL CHARACTERISTICS: The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including por …
Porencephaly.
ALPER MG, DESSOFF J. ALPER MG, et al. AMA Arch Ophthalmol. 1955 Oct;54(4):541-7. doi: 10.1001/archopht.1955.00930020547007. AMA Arch Ophthalmol. 1955. PMID: 13257984 No abstract available.
Porencephaly causing limb size asymmetry.
Takata T, Kume K, Kobara H, Deguchi K, Masaki T. Takata T, et al. Acta Neurol Belg. 2022 Jun;122(3):859-860. doi: 10.1007/s13760-021-01652-y. Epub 2021 Mar 16. Acta Neurol Belg. 2022. PMID: 33728580 No abstract available.
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. Meuwissen ME, et al. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.
Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities, indicated as "CO …
Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 and COL4A2 mutations h …
625 results