-
1
-
-
0026645882
-
Hereditary and acquired C1-inhibitor deficiency: Biological and clinical characteristics in 235 patients
-
Baltimore
-
Agostoni A, Cicardi M. 1992. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore) 71:206-215.
-
(1992)
Medicine
, vol.71
, pp. 206-215
-
-
Agostoni, A.1
Cicardi, M.2
-
2
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Nomenclature Working Group
-
Antonarakis SE. 1998. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1-3.
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
3
-
-
0036831814
-
Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: Evidence for 10 novel mutations
-
Blanch A, Roche O, Lopez-Granados E, Fontan G, Lopez-Trascasa M. 2002. Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations. Hum Mutat 20:405-406.
-
(2002)
Hum Mutat
, vol.20
, pp. 405-406
-
-
Blanch, A.1
Roche, O.2
Lopez-Granados, E.3
Fontan, G.4
Lopez-Trascasa, M.5
-
4
-
-
0022556870
-
Human C1 inhibitor: Primary structure, cDNA cloning, and chromosomal localisation
-
Bock SC, Skriver K, Nielsen E, Thogersen HC, Wiman B, Donaldson VH, Eddy RL, Marrinan J, Radziejewska E, Huber R. 1986. Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localisation. Biochemistry 25:4292-4301.
-
(1986)
Biochemistry
, vol.25
, pp. 4292-4301
-
-
Bock, S.C.1
Skriver, K.2
Nielsen, E.3
Thogersen, H.C.4
Wiman, B.5
Donaldson, V.H.6
Eddy, R.L.7
Marrinan, J.8
Radziejewska, E.9
Huber, R.10
-
5
-
-
0036747220
-
Structural and functional aspects of C1-inhibitor
-
Bos I, Hack E, Abrahams JP. 2002. Structural and functional aspects of C1-inhibitor. Immunobiology 205:518-533.
-
(2002)
Immunobiology
, vol.205
, pp. 518-533
-
-
Bos, I.1
Hack, E.2
Abrahams, J.P.3
-
6
-
-
0035125698
-
A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations
-
Bowen B, Hawk JJ, Sibunka S, Hovick S, Weiler JM. 2001. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin Immunol 98:157-163.
-
(2001)
Clin Immunol
, vol.98
, pp. 157-163
-
-
Bowen, B.1
Hawk, J.J.2
Sibunka, S.3
Hovick, S.4
Weiler, J.M.5
-
7
-
-
0025852429
-
Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements
-
Carter PE, Duponchel C, Tosi M, Fothergill JE. 1991. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. Eur J Biochem 197:301-308.
-
(1991)
Eur J Biochem
, vol.197
, pp. 301-308
-
-
Carter, P.E.1
Duponchel, C.2
Tosi, M.3
Fothergill, J.E.4
-
8
-
-
0036107052
-
Time for a unified system of mutation description and reporting: A review of locus specific mutation databases
-
Claustres M, Horaitis O, Vanevski M, Cotton RGH. 2002. Time for a unified system of mutation description and reporting: a review of locus specific mutation databases. Genome Res 12:680-688.
-
(2002)
Genome Res
, vol.12
, pp. 680-688
-
-
Claustres, M.1
Horaitis, O.2
Vanevski, M.3
Cotton, R.G.H.4
-
9
-
-
0011210621
-
Human inhibitor of the first component of complement, C1: Characterization of cDNA clones and localization of the gene to chromosome 11
-
Davis AE, 3rd, Whitehead AS, Harrison RA, Dauphinais A, Bruns GA, Cicardi M, Rosen FS. 1986. Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. Proc Natl Acad Sci USA 83:3161-3165.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 3161-3165
-
-
Davis III, A.E.1
Whitehead, A.S.2
Harrison, R.A.3
Dauphinais, A.4
Bruns, G.A.5
Cicardi, M.6
Rosen, F.S.7
-
10
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
11
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description of human sequence variations. Hum Genet 109:121-124.
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
12
-
-
0036546973
-
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema
-
Freiberger T, Kolarova L, Mejstrik P, Vyskocilova M, Kuklinek P Litzman J. 2002. Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. Hum Mutat 19:461.
-
(2002)
Hum Mutat
, vol.19
, pp. 461
-
-
Freiberger, T.1
Kolarova, L.2
Mejstrik, P.3
Vyskocilova, M.4
Kuklinek, P.5
Litzman, J.6
-
13
-
-
2342507856
-
The challenge of documenting mutation across the genome: The human genome variation society approach
-
Horaitis O, Cotton RGH. 2004. The challenge of documenting mutation across the genome: the human genome variation society approach. Hum Mutat 23:447-452.
-
(2004)
Hum Mutat
, vol.23
, pp. 447-452
-
-
Horaitis, O.1
Cotton, R.G.H.2
-
14
-
-
4444275023
-
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema
-
Kalmar L, Bors A, Farkas H, Vas S, Fandl B, Varga L, Fust G, Tordai A. 2003. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. Hum Mutat 22:498.
-
(2003)
Hum Mutat
, vol.22
, pp. 498
-
-
Kalmar, L.1
Bors, A.2
Farkas, H.3
Vas, S.4
Fandl, B.5
Varga, L.6
Fust, G.7
Tordai, A.8
-
15
-
-
0034541410
-
Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema
-
Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, Tosi M. 2000. Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema. J Allergy Clin Immunol 106:1147-1154.
-
(2000)
J Allergy Clin Immunol
, vol.106
, pp. 1147-1154
-
-
Pappalardo, E.1
Cicardi, M.2
Duponchel, C.3
Carugati, A.4
Choquet, S.5
Agostoni, A.6
Tosi, M.7
-
16
-
-
0015134842
-
Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema
-
Rosen FS, Alper CA, Pensky J, Klemperer MR, Donaldson VH. 1971. Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema. J Clin Invest 50:2143-2158.
-
(1971)
J Clin Invest
, vol.50
, pp. 2143-2158
-
-
Rosen, F.S.1
Alper, C.A.2
Pensky, J.3
Klemperer, M.R.4
Donaldson, V.H.5
-
17
-
-
0035052958
-
Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema
-
Sugiyama E, Ozawa T Taki H, Maruyama M, Yamashita N, Ohta M, Hirata M, Kobayashi M. 2001. Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema. Arthritis Rheum 44:974-977.
-
(2001)
Arthritis Rheum
, vol.44
, pp. 974-977
-
-
Sugiyama, E.1
Ozawa, T.2
Taki, H.3
Maruyama, M.4
Yamashita, N.5
Ohta, M.6
Hirata, M.7
Kobayashi, M.8
-
18
-
-
0031712910
-
Molecular genetics of C1 inhibitor
-
Tosi M. 1998. Molecular genetics of C1 inhibitor. Immunobiology 199:358-365.
-
(1998)
Immunobiology
, vol.199
, pp. 358-365
-
-
Tosi, M.1
-
19
-
-
0029816014
-
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema
-
Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M. 1996. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema. Am J Hum Genet 59:308-319.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 308-319
-
-
Verpy, E.1
Biasotto, M.2
Brai, M.3
Misiano, G.4
Meo, T.5
Tosi, M.6
-
20
-
-
3142666173
-
Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema
-
Zhi YX, Zhang HY, Huang SZ. 2003. Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema. Zhongguo Yi Xue Ke Xue Yuan Xue Bao 25:664-666.
-
(2003)
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
, vol.25
, pp. 664-666
-
-
Zhi, Y.X.1
Zhang, H.Y.2
Huang, S.Z.3
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