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Volumn 543, Issue 2, 2003, Pages 125-136

Somatic gene mutation and human disease other than cancer

Author keywords

Genetic syndromes; Mosaicism; Revertants; Skin manifestations

Indexed keywords

DNA;

EID: 0037342752     PISSN: 13835742     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5742(03)00010-3     Document Type: Review
Times cited : (93)

References (107)
  • 1
    • 0015402175 scopus 로고
    • Mutation and cancer: Neuroblastoma and pheochromocytoma
    • Knudson A.G. Jr., Strong L.C. Mutation and cancer: neuroblastoma and pheochromocytoma. Am. J. Hum. Genet. 24:1972;514-532.
    • (1972) Am. J. Hum. Genet. , vol.24 , pp. 514-532
    • Knudson A.G., Jr.1    Strong, L.C.2
  • 2
    • 0032524104 scopus 로고    scopus 로고
    • Landscaping the cancer terrain
    • Kinzler K.W., Vogelstein B. Landscaping the cancer terrain. Science. 280:1998;1036-1037.
    • (1998) Science , vol.280 , pp. 1036-1037
    • Kinzler, K.W.1    Vogelstein, B.2
  • 3
    • 0032542364 scopus 로고    scopus 로고
    • Genetic instabilities in human cancers
    • Lengauer C., Kinzler K.W., Vogelstein B. Genetic instabilities in human cancers. Nature. 396:1998;643-649.
    • (1998) Nature , vol.396 , pp. 643-649
    • Lengauer, C.1    Kinzler, K.W.2    Vogelstein, B.3
  • 5
    • 0018257650 scopus 로고
    • Mosaic autosomal trisomy in cultures from spontaneous abortions
    • Warburton D., Yu C.-Y., Kline J., Stein Z. Mosaic autosomal trisomy in cultures from spontaneous abortions. Am. J. Hum. Genet. 30:1978;609-617.
    • (1978) Am. J. Hum. Genet. , vol.30 , pp. 609-617
    • Warburton, D.1    Yu, C.-Y.2    Kline, J.3    Stein, Z.4
  • 6
    • 0025004331 scopus 로고
    • The significance of trisomy 7 mosacism in chorionic villus cultures
    • Reddy K.S., Blakemore K.J., Stetten G., Corson V. The significance of trisomy 7 mosacism in chorionic villus cultures. Prenatal Diagnosis. 10:1990;417-423.
    • (1990) Prenatal Diagnosis , vol.10 , pp. 417-423
    • Reddy, K.S.1    Blakemore, K.J.2    Stetten, G.3    Corson, V.4
  • 8
    • 0027255852 scopus 로고
    • Analysis of mutations occurring at the human hprt locus
    • Cariello N.F., Skopek T.R. Analysis of mutations occurring at the human hprt locus. J. Mol. Biol. 231:1993;41-57.
    • (1993) J. Mol. Biol. , vol.231 , pp. 41-57
    • Cariello, N.F.1    Skopek, T.R.2
  • 9
    • 0031842936 scopus 로고    scopus 로고
    • Databases and software for the analysis of mutations in the human p53 gene human hprt gene and both the lacI and laxZ gene in transgenic rodents
    • Cariello N.F., Douglas G.R., Gorelick N.J., Hart D.W., Wilson J.D., Soussi T. Databases and software for the analysis of mutations in the human p53 gene human hprt gene and both the lacI and laxZ gene in transgenic rodents. Nucleic Acids Res. 26:1998;198-199.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 198-199
    • Cariello, N.F.1    Douglas, G.R.2    Gorelick, N.J.3    Hart, D.W.4    Wilson, J.D.5    Soussi, T.6
  • 13
    • 85031203901 scopus 로고    scopus 로고
    • Chromosome abnormalities in spare preimplantation embryos from in vitro maturation (IVM) cycles
    • Ao A.M., Bielanska M., Chian R.C., Tan S.L. Chromosome abnormalities in spare preimplantation embryos from in vitro maturation (IVM) cycles. Fertil. Steril. 74:2000;S173-S173.
    • (2000) Fertil. Steril. , vol.74
    • Ao, A.M.1    Bielanska, M.2    Chian, R.C.3    Tan, S.L.4
  • 16
    • 84941021072 scopus 로고
    • Ueber Beteiligung der Augen, Insbesondere das Vorkommen von Irisknotchen bei der Neurofibromatose (Recklinghausen)
    • Lisch K. Ueber Beteiligung der Augen, Insbesondere das Vorkommen von Irisknotchen bei der Neurofibromatose (Recklinghausen). Augenheilkunde. 93:1937;137-143.
    • (1937) Augenheilkunde , vol.93 , pp. 137-143
    • Lisch, K.1
  • 17
    • 0022629188 scopus 로고
    • Iris (Lisch) nodules in neurofibromatosis
    • Zehavi C., Romano A., Goodman R.M. Iris (Lisch) nodules in neurofibromatosis. Clin. Genet. 29:1986;51-55.
    • (1986) Clin. Genet. , vol.29 , pp. 51-55
    • Zehavi, C.1    Romano, A.2    Goodman, R.M.3
  • 18
    • 0035110080 scopus 로고    scopus 로고
    • Lisch nodules and skin manifestation in neurofibromatosis type 1
    • Otsuka F., Kawashima T., Imakado S., Usuki Y., Hon-mura S. Lisch nodules and skin manifestation in neurofibromatosis type 1. Arch. Derm. 137:2001;232-233.
    • (2001) Arch. Derm. , vol.137 , pp. 232-233
    • Otsuka, F.1    Kawashima, T.2    Imakado, S.3    Usuki, Y.4    Hon-mura, S.5
  • 19
    • 0017891396 scopus 로고
    • Neurofibromatosis in children
    • Holt J.F. Neurofibromatosis in children. Am. J. Roentgen. 130:1978;615-639.
    • (1978) Am. J. Roentgen , vol.130 , pp. 615-639
    • Holt, J.F.1
  • 22
    • 0033670127 scopus 로고    scopus 로고
    • Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
    • Hamilton S.J., Friedman J.M. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin. Genet. 58:2000;341-344.
    • (2000) Clin. Genet. , vol.58 , pp. 341-344
    • Hamilton, S.J.1    Friedman, J.M.2
  • 23
    • 0018945860 scopus 로고
    • Familial occurrence of intracranial arterial occlusive disease (moyamoya) in neurofibromatosis
    • Erickson R.P., Wooliscroft J., Allen R.J. Familial occurrence of intracranial arterial occlusive disease (moyamoya) in neurofibromatosis. Clin. Genet. 18:1980;191-196.
    • (1980) Clin. Genet. , vol.18 , pp. 191-196
    • Erickson, R.P.1    Wooliscroft, J.2    Allen, R.J.3
  • 24
    • 0345058508 scopus 로고
    • Segmental neurofibromatosis and iris hamartomata (Lisch nodules)
    • (Abstract)
    • Zonana J., Weleber R.G. Segmental neurofibromatosis and iris hamartomata (Lisch nodules). Proc. Greenwood Genet. Control. 3:1984;140-141. (Abstract).
    • (1984) Proc. Greenwood Genet. Control , vol.3 , pp. 140-141
    • Zonana, J.1    Weleber, R.G.2
  • 25
    • 0014622099 scopus 로고
    • Somatic variation and multiple neurofibromatosis
    • Nicolls E.M. Somatic variation and multiple neurofibromatosis. Hum. Hered. 19:1969;473-479.
    • (1969) Hum. Hered. , vol.19 , pp. 473-479
    • Nicolls, E.M.1
  • 26
    • 0017705070 scopus 로고
    • Segmental neurofibromatosis
    • Miller R.M., Sparkes R.S. Segmental neurofibromatosis. Arch. Derm. 113:1977;837-838.
    • (1977) Arch. Derm. , vol.113 , pp. 837-838
    • Miller, R.M.1    Sparkes, R.S.2
  • 27
    • 0028225092 scopus 로고
    • Segmental neurofibromatosis: Report of two cases and critical review of the literature
    • Combemale P., Abitan R., Kanitakis J. Segmental neurofibromatosis: report of two cases and critical review of the literature. Eur. J. Derm. 4:1994;194-201.
    • (1994) Eur. J. Derm. , vol.4 , pp. 194-201
    • Combemale, P.1    Abitan, R.2    Kanitakis, J.3
  • 36
    • 0032231683 scopus 로고    scopus 로고
    • Somatic mosaicism: A common cause of classic disease in tumor-prone syndromes? Lesson from type 2 neurofibromatosis
    • Evans D.G.R., Wallace A.J., Wu C.L., Trueman L., Ramsden R.T., Strachan T. Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lesson from type 2 neurofibromatosis. Am. J. Hum. Genet. 63:1998;727-736.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 727-736
    • Evans, D.G.R.1    Wallace, A.J.2    Wu, C.L.3    Trueman, L.4    Ramsden, R.T.5    Strachan, T.6
  • 37
    • 0001220824 scopus 로고
    • Progress in pediatrics: Osteodystrophia fibrosa
    • McCune D.J., Bruch H. Progress in pediatrics: osteodystrophia fibrosa. Am. J. Dis. Child. 54:1937;806-848.
    • (1937) Am. J. Dis. Child. , vol.54 , pp. 806-848
    • McCune, D.J.1    Bruch, H.2
  • 38
    • 0001473635 scopus 로고
    • Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: Report of five cases
    • Albright F., Butler A.M., Hampton A.O., Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases. N. Engl. J. Med. 216:1937;727-746.
    • (1937) N. Engl. J. Med. , vol.216 , pp. 727-746
    • Albright, F.1    Butler, A.M.2    Hampton, A.O.3    Smith, P.4
  • 39
    • 84995853510 scopus 로고
    • Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation, and a gonadal dysfunction: Further observations including the report of two more cases
    • Albright F., Scoville B., Sulkowitch H.W. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation, and a gonadal dysfunction: further observations including the report of two more cases. Endocrinology. 22:1938;411-421.
    • (1938) Endocrinology , vol.22 , pp. 411-421
    • Albright, F.1    Scoville, B.2    Sulkowitch, H.W.3
  • 41
    • 0000914631 scopus 로고
    • Fibrous dysplasia of the bone: A condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities
    • Lichtenstein L., Jaffe H.L. Fibrous dysplasia of the bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch. Path. 33:1942;777-816.
    • (1942) Arch. Path. , vol.33 , pp. 777-816
    • Lichtenstein, L.1    Jaffe, H.L.2
  • 42
    • 0015879064 scopus 로고
    • Unusual types of hyperthyroidism
    • Hamilton C.R. Jr., Maloof F. Unusual types of hyperthyroidism. Medicine. 52:1973;195-213.
    • (1973) Medicine , vol.52 , pp. 195-213
    • Hamilton C.R., Jr.1    Maloof, F.2
  • 43
    • 0022654257 scopus 로고
    • The McCune-Albright syndrome: A lethal gene surviving by mosaicism
    • Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin. Genet. 29:1986;321-324.
    • (1986) Clin. Genet. , vol.29 , pp. 321-324
    • Happle, R.1
  • 45
    • 0026694168 scopus 로고
    • Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome
    • Schwindinger W.F., Francomano C.A., Levine M.A. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome. Proc. Natl. Acad. Sci. U.S.A. 89:1992;5152-5156.
    • (1992) Proc. Natl. Acad. Sci. U.S.A. , vol.89 , pp. 5152-5156
    • Schwindinger, W.F.1    Francomano, C.A.2    Levine, M.A.3
  • 46
    • 0033212348 scopus 로고    scopus 로고
    • Etiology of fibrous dysplasia and McCune-Albright syndrome
    • Cohen M.M. Jr., Howell R.E. Etiology of fibrous dysplasia and McCune-Albright syndrome. Int. J. Oral Maxillofac. Surg. 28:1999;366-371.
    • (1999) Int. J. Oral Maxillofac. Surg. , vol.28 , pp. 366-371
    • Cohen M.M., Jr.1    Howell, R.E.2
  • 47
    • 0035254203 scopus 로고    scopus 로고
    • Fibrous dysplasia is a neoplasm
    • Cohen M.M. Jr. Fibrous dysplasia is a neoplasm. Am. J. Med. Genet. 98:2001;290-293.
    • (2001) Am. J. Med. Genet. , vol.98 , pp. 290-293
    • Cohen M.M., Jr.1
  • 48
    • 0028169341 scopus 로고
    • An activating Gsa mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome
    • Shenker A., Weinstein L.S., Sweet D.E., Spiegel A.M. An activating Gsa mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J. Clin. Endocrinol. Metab. 79:1994;750-755.
    • (1994) J. Clin. Endocrinol. Metab. , vol.79 , pp. 750-755
    • Shenker, A.1    Weinstein, L.S.2    Sweet, D.E.3    Spiegel, A.M.4
  • 52
    • 0027412005 scopus 로고
    • Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria
    • Takahashi M., Takeda J., Hirose S., Hyman R., Inoue N., Miyata T., Ueda E., Kitani T., Medof M.E., Kinoshita T. Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria. J. Exp. Med. 177:1993;517-521.
    • (1993) J. Exp. Med. , vol.177 , pp. 517-521
    • Takahashi, M.1    Takeda, J.2    Hirose, S.3    Hyman, R.4    Inoue, N.5    Miyata, T.6    Ueda, E.7    Kitani, T.8    Medof, M.E.9    Kinoshita, T.10
  • 54
    • 0027310539 scopus 로고
    • Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
    • Takeda J., Miyata T., Kawagoe K., Iida Y., Endo Y., Fujita T., Takahashi M., Kitani T., Kinoshita T. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 73:1993;703-711.
    • (1993) Cell , vol.73 , pp. 703-711
    • Takeda, J.1    Miyata, T.2    Kawagoe, K.3    Iida, Y.4    Endo, Y.5    Fujita, T.6    Takahashi, M.7    Kitani, T.8    Kinoshita, T.9
  • 55
    • 0033609114 scopus 로고    scopus 로고
    • Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals
    • Araten D.J., Nafa K., Pakdeesuwan K., Luzzatto L. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc. Natl. Acad. Sci. U.S.A. 96:1999;5209-5214.
    • (1999) Proc. Natl. Acad. Sci. U.S.A. , vol.96 , pp. 5209-5214
    • Araten, D.J.1    Nafa, K.2    Pakdeesuwan, K.3    Luzzatto, L.4
  • 56
    • 0029887115 scopus 로고    scopus 로고
    • The dual pathogenesis of paroxysmal nocturnal hemoglobinuria
    • Luzzatto L., Bessler M. The dual pathogenesis of paroxysmal nocturnal hemoglobinuria. Curr. Opin. Hematol. 3:1996;101-110.
    • (1996) Curr. Opin. Hematol. , vol.3 , pp. 101-110
    • Luzzatto, L.1    Bessler, M.2
  • 57
    • 0030932540 scopus 로고    scopus 로고
    • Somatic mutations in paroxysmal nocturnal hemoglobinuria: A blessing in disguise?
    • Luzzatto L., Bessler M., Rotoli B. Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise? Cell. 88:1997;1-4.
    • (1997) Cell , vol.88 , pp. 1-4
    • Luzzatto, L.1    Bessler, M.2    Rotoli, B.3
  • 58
    • 0029824262 scopus 로고    scopus 로고
    • A knock-out model of paroxysmal nocturnal hemoglobinuria: Pig-a (-) hematopoiesis is reconstituted following intercellular transfer of GPI-anchored proteins
    • Dunn D.E., Yu J., Nagarajan S., Devetten M., Weichold F.F., Medof M.E., Young N.S., Liu J.M. A knock-out model of paroxysmal nocturnal hemoglobinuria: pig-a (-) hematopoiesis is reconstituted following intercellular transfer of GPI-anchored proteins. Proc. Natl. Acad. Sci. U.S.A. 93:1996;7938.
    • (1996) Proc. Natl. Acad. Sci. U.S.A. , vol.93 , pp. 7938
    • Dunn, D.E.1    Yu, J.2    Nagarajan, S.3    Devetten, M.4    Weichold, F.F.5    Medof, M.E.6    Young, N.S.7    Liu, J.M.8
  • 59
    • 0030955185 scopus 로고    scopus 로고
    • Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the PNH phenotype but not for clonal expansion
    • Rosti V., Tremmi G., Soares V., Pandolfi P.P., Luzzatto L., Bessler M. Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the PNH phenotype but not for clonal expansion. J. Clin. Invest. 100:1997;1028.
    • (1997) J. Clin. Invest. , vol.100 , pp. 1028
    • Rosti, V.1    Tremmi, G.2    Soares, V.3    Pandolfi, P.P.4    Luzzatto, L.5    Bessler, M.6
  • 60
    • 0033594885 scopus 로고    scopus 로고
    • X inactivation and somatic cell selection resuce female mice carrying a Piga-null mutation
    • Keller P., Tremml G., Rosti V., Bessler M. X inactivation and somatic cell selection resuce female mice carrying a Piga-null mutation. Proc. Natl. Acad. Sci. U.S.A. 96:1999;7479-7483.
    • (1999) Proc. Natl. Acad. Sci. U.S.A. , vol.96 , pp. 7479-7483
    • Keller, P.1    Tremml, G.2    Rosti, V.3    Bessler, M.4
  • 61
    • 0012433415 scopus 로고
    • Incontinentia Pigmenti [Bloch-Sulzberger]: Report of an additional case, with comment on possible relation to a new syndrome of familial and congenital anomalies
    • Sulzberger M.B. Incontinentia Pigmenti [Bloch-Sulzberger]: report of an additional case, with comment on possible relation to a new syndrome of familial and congenital anomalies. Arch. Dermatol. 38:1938;57-69.
    • (1938) Arch. Dermatol. , vol.38 , pp. 57-69
    • Sulzberger, M.B.1
  • 62
    • 0034713270 scopus 로고    scopus 로고
    • The, Genomic rearrangement in NEMO impairs NF-kB activation and is a cause of incontinentia pigmenti
    • International Incontinentia Pigmenti Foundation, The, Genomic rearrangement in NEMO impairs NF-kB activation and is a cause of incontinentia pigmenti, Nature 405 (2000) 466-472.
    • (2000) Nature , vol.405 , pp. 466-472
  • 63
    • 0017260992 scopus 로고
    • Incontinentia pigmenti. A world statistical analysis
    • Carney R.G. Incontinentia pigmenti. A world statistical analysis. Arch. Dermatol. 112:1976;535-542.
    • (1976) Arch. Dermatol. , vol.112 , pp. 535-542
    • Carney, R.G.1
  • 64
    • 0035281865 scopus 로고    scopus 로고
    • Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
    • Mansour S., Woffendin H., Mitton S., Jeffrey I., Jakins T., Kenwrick S., Murday V.A. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am. J. Med. Genet. 99:2001;172-177.
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 172-177
    • Mansour, S.1    Woffendin, H.2    Mitton, S.3    Jeffrey, I.4    Jakins, T.5    Kenwrick, S.6    Murday, V.A.7
  • 66
    • 0035205331 scopus 로고    scopus 로고
    • The, Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    • International IP Consortium, The, Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome, Am. J. Hum. Genet. 69 (2001) 1210-1217.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1210-1217
  • 67
    • 0018602678 scopus 로고
    • A newly recognized hamartomatous syndrome
    • J.J. O'Donnel, B.D. Hall (Eds.), The National Foundation - March of Dimes, BD:OAS XV (5B)
    • M.M. Cohen Jr., P.W. Hayden, A newly recognized hamartomatous syndrome, in: J.J. O'Donnel, B.D. Hall (Eds.), Penetrance and Variability in Malformation Syndromes, The National Foundation - March of Dimes, BD:OAS XV (5B), 1979, pp. 291-296.
    • (1979) Penetrance and Variability in Malformation Syndromes , pp. 291-296
    • Cohen M.M., Jr.1    Hayden, P.W.2
  • 68
    • 0020534650 scopus 로고
    • The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly, skull anomalies and possible accelerated growth and visceral affections
    • Wiedmann H.-R., Burgio G.R., Aldenhoff P., Kunze J., Kaufmann H.J., Schirg E. The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly, skull anomalies and possible accelerated growth and visceral affections. Eur. J. Pediatr. 140:1983;5-12.
    • (1983) Eur. J. Pediatr. , vol.140 , pp. 5-12
    • Wiedmann, H.-R.1    Burgio, G.R.2    Aldenhoff, P.3    Kunze, J.4    Kaufmann, H.J.5    Schirg, E.6
  • 69
    • 0023319298 scopus 로고
    • Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin
    • Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J. Am. Acad. Dermatol. 16:1987;899-906.
    • (1987) J. Am. Acad. Dermatol. , vol.16 , pp. 899-906
    • Happle, R.1
  • 70
    • 0022494479 scopus 로고
    • Proteus syndrome: The elephant man diagnosed
    • Tibbles J.A.R., Cohen M.M. Jr. Proteus syndrome: the elephant man diagnosed. Br. Med. J. 293:1986;683-685.
    • (1986) Br. Med. J. , vol.293 , pp. 683-685
    • Tibbles, J.A.R.1    Cohen M.M., Jr.2
  • 71
    • 0027377929 scopus 로고
    • Proteus Syndrome: Clinical evidence for somatic mosaicism and selective review
    • Cohen M.M. Jr. Proteus Syndrome: clinical evidence for somatic mosaicism and selective review. Am. J. Med. Genet. 47:1993;645-652.
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 645-652
    • Cohen M.M., Jr.1
  • 73
    • 0024238804 scopus 로고
    • Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever
    • Cohen M.M. Jr. Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever. Neurofibromatosis. 1:1988;260-280.
    • (1988) Neurofibromatosis , vol.1 , pp. 260-280
    • Cohen M.M., Jr.1
  • 76
    • 0025987722 scopus 로고
    • DNA fingerprinting: The utilization of minisatellite probes to detect a somatic mutation in the Proteus syndrome
    • T. Burke, G. Dolf, A.J. Jeffreys, R. Wolff (Eds.), Birkhauser, Basel, Switzerland
    • C.E. Schwartz, A.M. Brown, V.M. Der Kaloustian, C.C. McGill, R.A. Saul, DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the Proteus syndrome, in: T. Burke, G. Dolf, A.J. Jeffreys, R. Wolff (Eds.), DNA Fingerprinting: Approaches and Applications, Birkhauser, Basel, Switzerland, 1991, pp. 95-105.
    • (1991) DNA Fingerprinting: Approaches and Applications , pp. 95-105
    • Schwartz, C.E.1    Brown, A.M.2    Der Kaloustian, V.M.3    McGill, C.C.4    Saul, R.A.5
  • 77
    • 0001410379 scopus 로고
    • Du Noevus variquex osteohypertrophiques
    • Klippel M., Trénaunay P. Du Noevus variquex osteohypertrophiques. Arch. Gen. Med. 185:1900;641-672.
    • (1900) Arch. Gen. Med. , vol.185 , pp. 641-672
    • Klippel, M.1    Trénaunay, P.2
  • 78
    • 0034640654 scopus 로고    scopus 로고
    • Klippel-Trenaunay syndrome
    • Cohen M.M. Jr. Klippel-Trenaunay syndrome. Am. J. Med. Genet. 93:2000;171-175.
    • (2000) Am. J. Med. Genet. , vol.93 , pp. 171-175
    • Cohen M.M., Jr.1
  • 79
    • 0022401932 scopus 로고
    • The etiology of the Klippel-Trénaunay syndrome
    • Baskerville P.A., Ackroyd J.S., Browse N.L. The etiology of the Klippel-Trénaunay syndrome. Ann. Surg. 202:1985;624-627.
    • (1985) Ann. Surg. , vol.202 , pp. 624-627
    • Baskerville, P.A.1    Ackroyd, J.S.2    Browse, N.L.3
  • 80
    • 0000284615 scopus 로고
    • The Klippel-Trénaunay syndrome: Varicosity, hypertrophy and hemangioma with no ateriovenous fistula
    • Lindenauer S.M. The Klippel-Trénaunay syndrome: varicosity, hypertrophy and hemangioma with no ateriovenous fistula. Ann. Surg. 162:1965;303-314.
    • (1965) Ann. Surg. , vol.162 , pp. 303-314
    • Lindenauer, S.M.1
  • 81
    • 0001334031 scopus 로고
    • Di un caso di encondroma ed angioma multiple. Constribuzione all genesi embrionale dei tumor
    • A. Malfucci, Di un caso di encondroma ed angioma multiple. Constribuzione all genesi embrionale dei tumor, Mov. Med. Chir. 3 (1881) 399-412, 565-575.
    • (1881) Mov. Med. Chir. , vol.3 , pp. 399-412
    • Malfucci, A.1
  • 82
    • 0023754181 scopus 로고
    • Somatic mosaicism: Observations related to clinical genetics
    • Hall J.G. Somatic mosaicism: observations related to clinical genetics. Am. J. Hum. Genet. 43:1988;355-363.
    • (1988) Am. J. Hum. Genet. , vol.43 , pp. 355-363
    • Hall, J.G.1
  • 83
    • 0025356103 scopus 로고
    • Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)
    • Cohn D.H., Starman B.J., Blumberg B., Byers P.H. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am. J. Hum. Genet. 46:1990;591-601.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 591-601
    • Cohn, D.H.1    Starman, B.J.2    Blumberg, B.3    Byers, P.H.4
  • 84
    • 0025276737 scopus 로고
    • Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the α1(I) gene (COL1A1) of type I collagen in a parent
    • Wallis G.A., Starman B.J., Zinn A.B., Byers P.H. Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the α1(I) gene (COL1A1) of type I collagen in a parent. Am. J. Hum. Genet. 46:1990;1034-1040.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 1034-1040
    • Wallis, G.A.1    Starman, B.J.2    Zinn, A.B.3    Byers, P.H.4
  • 85
    • 0027016289 scopus 로고
    • Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotype features of a mild form of the disease
    • Edwards M.J., Wenstrup R.J., Byers P.H., Cohn D.H. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotype features of a mild form of the disease. Hum. Mutat. 1:1992;47-54.
    • (1992) Hum. Mutat. , vol.1 , pp. 47-54
    • Edwards, M.J.1    Wenstrup, R.J.2    Byers, P.H.3    Cohn, D.H.4
  • 86
    • 0026781879 scopus 로고
    • Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk
    • Passos-Bueno M.R., Bakker E., Kneppers A.L., Takata R.I., Rapaport D., den Dunnen J.T., Zatz M., van Ommen P.J. Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am. J. Hum. Genet. 51:1992;1150-1155.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1150-1155
    • Passos-Bueno, M.R.1    Bakker, E.2    Kneppers, A.L.3    Takata, R.I.4    Rapaport, D.5    Den Dunnen, J.T.6    Zatz, M.7    Van Ommen, P.J.8
  • 87
    • 0031051185 scopus 로고    scopus 로고
    • Germline and somatic mosaicism in a female carrier of Hunter disease
    • Froissart R., Maire I., Bonnet V., Levade T., Bozon D. Germline and somatic mosaicism in a female carrier of Hunter disease. J. Med. Genet. 34:1997;137-140.
    • (1997) J. Med. Genet. , vol.34 , pp. 137-140
    • Froissart, R.1    Maire, I.2    Bonnet, V.3    Levade, T.4    Bozon, D.5
  • 89
    • 0030903774 scopus 로고    scopus 로고
    • Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts
    • Putnam E.A., Park E.-S., Aalfs C.M., Hennekam R.C.M., Milewicz D.M. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am. J. Hum. Genet. 60:1997;818-827.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 818-827
    • Putnam, E.A.1    Park, E.-S.2    Aalfs, C.M.3    Hennekam, R.C.M.4    Milewicz, D.M.5
  • 92
    • 0029865410 scopus 로고    scopus 로고
    • Characterization of the factor VIII defect in 147 patients with sporadic hemophilia a: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies
    • Becker J., Schwaab R., Möller-Taube A., Schwaab U., Schmidt W., Brackmann H.H., Grimm T., Olek K., Oldenburg J. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia a: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am. J. Hum. Genet. 58:1996;657-670.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 657-670
    • Becker, J.1    Schwaab, R.2    Möller-Taube, A.3    Schwaab, U.4    Schmidt, W.5    Brackmann, H.H.6    Grimm, T.7    Olek, K.8    Oldenburg, J.9
  • 94
  • 97
    • 0029902033 scopus 로고    scopus 로고
    • Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
    • Hirschhorn R., Yang D.R., Puck J.M., Huie M.L., Jiang C.-K., Kurlandsky E.L. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat. Genet. 13:1996;290-295.
    • (1996) Nat. Genet. , vol.13 , pp. 290-295
    • Hirschhorn, R.1    Yang, D.R.2    Puck, J.M.3    Huie, M.L.4    Jiang, C.-K.5    Kurlandsky, E.L.6
  • 101
    • 0026637764 scopus 로고
    • Somatic reversion/suppression in duchenne muscular dystrophy (DMD): Evidence supporting a frame restoring mechanism in rare dystrophin-positive fibers
    • Klein C.J., Coovert D.D., Bulman D.E., Ray P.N., Mendell J.R., Burghes A.H.M. Somatic reversion/suppression in duchenne muscular dystrophy (DMD): evidence supporting a frame restoring mechanism in rare dystrophin-positive fibers. Am. J. Hum. Genet. 50:1992;950-959.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 950-959
    • Klein, C.J.1    Coovert, D.D.2    Bulman, D.E.3    Ray, P.N.4    Mendell, J.R.5    Burghes, A.H.M.6
  • 102
    • 0027487938 scopus 로고
    • Exon skipping and translation in patients with frame shift deletions in the dystrophin gene
    • Sherratt T.G., Vulliamy V., Dubowitz V., Sewry C.A., Strong P.N. Exon skipping and translation in patients with frame shift deletions in the dystrophin gene. Am. J. Hum. Genet. 53:1993;1007-1015.
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 1007-1015
    • Sherratt, T.G.1    Vulliamy, V.2    Dubowitz, V.3    Sewry, C.A.4    Strong, P.N.5
  • 103
    • 0027304643 scopus 로고
    • Germinal mosaicism in a duchenne muscular dystrophy family; Implications for genetic counseling
    • Melis M.A., Cau M., Congiu R., Puddu R., Muntoni F., Cao A. Germinal mosaicism in a duchenne muscular dystrophy family; implications for genetic counseling. Clin. Genet. 43:1993;247-249.
    • (1993) Clin. Genet. , vol.43 , pp. 247-249
    • Melis, M.A.1    Cau, M.2    Congiu, R.3    Puddu, R.4    Muntoni, F.5    Cao, A.6
  • 104
    • 0029832730 scopus 로고    scopus 로고
    • Genetic counseling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism
    • Lund A.M., Schwartz M., Skovby F. Genetic counseling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism. Prenat. Diagn. 16:1996;1032-1038.
    • (1996) Prenat. Diagn. , vol.16 , pp. 1032-1038
    • Lund, A.M.1    Schwartz, M.2    Skovby, F.3
  • 106
    • 0034474173 scopus 로고    scopus 로고
    • Somatic mosaicism in a patient with Gaucher disease type 2: Implication for genetic counseling and therapeutic decision-making
    • Filocamo M., Bonuccelli G., Mazzotti R., Corsolini F., Stroppiano M., Regis S., Gatti R. Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making. Blood Cells Mol. Dis. 26:2000;611-612.
    • (2000) Blood Cells Mol. Dis. , vol.26 , pp. 611-612
    • Filocamo, M.1    Bonuccelli, G.2    Mazzotti, R.3    Corsolini, F.4    Stroppiano, M.5    Regis, S.6    Gatti, R.7
  • 107
    • 0030898113 scopus 로고    scopus 로고
    • Germ line and somatic mosaicism in the androgen insensitivity syndrome: Implications for genetic counseling
    • Boehmer A.L., Brinkmann A.O., Niermeijer M.F., Bakker L., Halley D.J., Drop S.L. Germ line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. Am. J. Hum. Genet. 60:1997;1003-1006.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1003-1006
    • Boehmer, A.L.1    Brinkmann, A.O.2    Niermeijer, M.F.3    Bakker, L.4    Halley, D.J.5    Drop, S.L.6


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