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Volumn 14, Issue 2, 2003, Pages 516-529

Eye and kidney: From clinical findings to genetic explanations

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; PROTEIN; PROTEIN BMP7; PROTEIN EYA1; PROTEIN PAX; PROTEIN WT1; UNCLASSIFIED DRUG;

EID: 0037305037     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000051705.97966.AD     Document Type: Article
Times cited : (58)

References (122)
  • 1
    • 0036149194 scopus 로고    scopus 로고
    • Toward an etiological classification of developmental disorders of the kidney and upper urinary tract
    • Pohl M, Bhatnagar V, Mendoza SA, Nigam SK: Toward an etiological classification of developmental disorders of the kidney and upper urinary tract. Kidney Int 61: 10-19, 2002
    • (2002) Kidney Int , vol.61 , pp. 10-19
    • Pohl, M.1    Bhatnagar, V.2    Mendoza, S.A.3    Nigam, S.K.4
  • 2
    • 0031239122 scopus 로고    scopus 로고
    • Pax genes and organogenesis
    • Dahl E, Koseki H, Balling R: Pax genes and organogenesis. Bioessays 19: 755-765, 1997
    • (1997) Bioessays , vol.19 , pp. 755-765
    • Dahl, E.1    Koseki, H.2    Balling, R.3
  • 3
    • 0033764489 scopus 로고    scopus 로고
    • Wilms' tumor suppressor gene WT1: From structure to renal pathophysiologic features
    • Mrowka C, Schedl A: Wilms' tumor suppressor gene WT1: From structure to renal pathophysiologic features. J Am Soc Nephrol 11: S106-S115, 2000
    • (2000) J Am Soc Nephrol , vol.11
    • Mrowka, C.1    Schedl, A.2
  • 6
    • 0033840755 scopus 로고    scopus 로고
    • Abnormal polarization and axon outgrowth in retinal ganglion cells lacking the POU-domain transcription factor Brn-3b
    • Wang SW, Gan L, Martin SE, Klein WH: Abnormal polarization and axon outgrowth in retinal ganglion cells lacking the POU-domain transcription factor Brn-3b. Mol Cell Neurosci 16: 141-156, 2000
    • (2000) Mol Cell Neurosci , vol.16 , pp. 141-156
    • Wang, S.W.1    Gan, L.2    Martin, S.E.3    Klein, W.H.4
  • 8
    • 0031685058 scopus 로고    scopus 로고
    • Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)
    • Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns J-P, Leys A: Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). Hum Genet 103: 149-153, 1998
    • (1998) Hum Genet , vol.103 , pp. 149-153
    • Devriendt, K.1    Matthijs, G.2    Van Damme, B.3    Van Caesbroeck, D.4    Eccles, M.5    Vanrenterghem, Y.6    Fryns, J.-P.7    Leys, A.8
  • 9
    • 0019379794 scopus 로고
    • Ocular coloboma
    • Pagon RA: Ocular coloboma. Surv Ophthalmol 25: 223-36, 1981
    • (1981) Surv Ophthalmol , vol.25 , pp. 223-236
    • Pagon, R.A.1
  • 10
    • 0018629417 scopus 로고
    • Zum 'morning glory' syndrom
    • Karcher H: Zum 'morning glory' Syndrom. Klin Mbl Augenheilk 175: 835-840, 1979
    • (1979) Klin Mbl Augenheilk , vol.175 , pp. 835-840
    • Karcher, H.1
  • 12
    • 0029791551 scopus 로고    scopus 로고
    • Unravelling the genetics of vesicoureteric reflux: A common familial disorder
    • Eccles MR, Bailey RR, Abbott GD, Sullivan MJ: Unravelling the genetics of vesicoureteric reflux: A common familial disorder. Hum Mol Genet 5: 1425-1429, 1996
    • (1996) Hum Mol Genet , vol.5 , pp. 1425-1429
    • Eccles, M.R.1    Bailey, R.R.2    Abbott, G.D.3    Sullivan, M.J.4
  • 13
    • 0031691918 scopus 로고    scopus 로고
    • The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies
    • Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR: The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet 35: 806-812, 1998
    • (1998) J Med Genet , vol.35 , pp. 806-812
    • Cunliffe, H.E.1    McNoe, L.A.2    Ward, T.A.3    Devriendt, K.4    Brunner, H.G.5    Eccles, M.R.6
  • 15
    • 0031020668 scopus 로고    scopus 로고
    • Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease
    • Narahara K, Baker E, Ito S, Yokoyama Y, Yu S, Hewitt D, Sutherland GR, Eccles MR, Richards RI: Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. J Med Genet 34: 213-216, 1997
    • (1997) J Med Genet , vol.34 , pp. 213-216
    • Narahara, K.1    Baker, E.2    Ito, S.3    Yokoyama, Y.4    Yu, S.5    Hewitt, D.6    Sutherland, G.R.7    Eccles, M.R.8    Richards, R.I.9
  • 16
    • 0025118546 scopus 로고
    • Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system
    • Dressler GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P: Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109: 787-795, 1990
    • (1990) Development , vol.109 , pp. 787-795
    • Dressler, G.R.1    Deutsch, U.2    Chowdhury, K.3    Nornes, H.O.4    Gruss, P.5
  • 18
    • 0002227861 scopus 로고    scopus 로고
    • Nephronophthisis
    • edited by Barratt TM, Avner ED, Harmon WE, Philadelphia, Lippincott Williams & Wilkins
    • Hildebrandt F: Nephronophthisis, In: Pediatric Nephrology, edited by Barratt TM, Avner ED, Harmon WE, Philadelphia, Lippincott Williams & Wilkins 1999, pp 453-458
    • (1999) Pediatric Nephrology , pp. 453-458
    • Hildebrandt, F.1
  • 19
    • 0002535668 scopus 로고    scopus 로고
    • Nephronophthisis
    • edited by Davison AM, Cameron JS, Grünfeld JP, Kerr DNS, Ritz E, Winearls CG, Oxford, Oxford University Press
    • Antignac C, Kleinknecht C, Habib R: Nephronophthisis In: Oxford Textbook of Clinical Nephrology, edited by Davison AM, Cameron JS, Grünfeld JP, Kerr DNS, Ritz E, Winearls CG, Oxford, Oxford University Press, 1998, pp 2417-2426
    • (1998) Oxford Textbook of Clinical Nephrology , pp. 2417-2426
    • Antignac, C.1    Kleinknecht, C.2    Habib, R.3
  • 27
    • 0030070396 scopus 로고    scopus 로고
    • Renal insufficiency is a component of COACH syndrome
    • Kumar S, Rankin R: Renal insufficiency is a component of COACH syndrome. Am J Med Genet 61: 122-126, 1996
    • (1996) Am J Med Genet , vol.61 , pp. 122-126
    • Kumar, S.1    Rankin, R.2
  • 28
    • 4644256831 scopus 로고    scopus 로고
    • Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia
    • Gronskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye T, Brondum-Nielsen K, Rosenberg T: Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet 109: 11-18, 2001
    • (2001) Hum Genet , vol.109 , pp. 11-18
    • Gronskov, K.1    Olsen, J.H.2    Sand, A.3    Pedersen, W.4    Carlsen, N.5    Bak Jylling, A.M.6    Lyngbye, T.7    Brondum-Nielsen, K.8    Rosenberg, T.9
  • 31
    • 0030891372 scopus 로고    scopus 로고
    • A clinical overview of WT1 gene mutations
    • Little M, Wells C: A clinical overview of WT1 gene mutations. Hum Mutat 9: 209-225, 1997
    • (1997) Hum Mutat , vol.9 , pp. 209-225
    • Little, M.1    Wells, C.2
  • 34
    • 0034639683 scopus 로고    scopus 로고
    • Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
    • Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M: Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 9: 363-366, 2000
    • (2000) Hum Mol Genet , vol.9 , pp. 363-366
    • Azuma, N.1    Hirakiyama, A.2    Inoue, T.3    Asaka, A.4    Yamada, M.5
  • 36
    • 0026564369 scopus 로고
    • A bone morphogenetic protein subfamily: Chromosomal localization of human genes for BMP5, BMP6, and BMP7
    • Hahn GV, Cohen RB, Wozney JM, Levitz CL, Shore EM, Zasloff MA, Kaplan FS: A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7. Genomics 14: 759-762, 1992
    • (1992) Genomics , vol.14 , pp. 759-762
    • Hahn, G.V.1    Cohen, R.B.2    Wozney, J.M.3    Levitz, C.L.4    Shore, E.M.5    Zasloff, M.A.6    Kaplan, F.S.7
  • 37
    • 0029095233 scopus 로고
    • Chromosomal localization, embryonic expression, and imprinting tests for Bmp7 on distal mouse chromosome 2
    • Marker PC, King JA, Copeland NG, Jenkins NA, Kingsley DM: Chromosomal localization, embryonic expression, and imprinting tests for Bmp7 on distal mouse chromosome 2. Genomics 28: 576-580, 1995
    • (1995) Genomics , vol.28 , pp. 576-580
    • Marker, P.C.1    King, J.A.2    Copeland, N.G.3    Jenkins, N.A.4    Kingsley, D.M.5
  • 38
    • 0023574174 scopus 로고
    • Embryonic kidney in organ culture
    • Saxen L, Lehtonen E: Embryonic kidney in organ culture. Differentiation 36: 2-11, 1987
    • (1987) Differentiation , vol.36 , pp. 2-11
    • Saxen, L.1    Lehtonen, E.2
  • 39
    • 0021272219 scopus 로고
    • Webster EH Jr, Silver AF, Gonsalves NI: The extracellular matrix between the optic vesicle and presumptive lens during lens morphogenesis in an anophthalmic strain of mice
    • Webster EH Jr, Silver AF, Gonsalves NI: The extracellular matrix between the optic vesicle and presumptive lens during lens morphogenesis in an anophthalmic strain of mice. Dev Biol 103: 142-1250, 1984
    • (1984) Dev Biol , vol.103 , pp. 142-1250
  • 40
    • 0026663118 scopus 로고
    • Postcranial morphological features of homozygous tetraploid mouse embryos
    • Kaufman MH: Postcranial morphological features of homozygous tetraploid mouse embryos. J Anat 180: 521-534, 1992
    • (1992) J Anat , vol.180 , pp. 521-534
    • Kaufman, M.H.1
  • 41
    • 0015787705 scopus 로고
    • Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease
    • Watson GH, Miller V: Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 48: 459-466, 1973
    • (1973) Arch Dis Child , vol.48 , pp. 459-466
    • Watson, G.H.1    Miller, V.2
  • 42
    • 0016439420 scopus 로고
    • Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur
    • Alagille D, Odievre M, Gautier M, Dommergues JP: Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur. J Pediat 86: 63-71, 1975
    • (1975) J Pediat , vol.86 , pp. 63-71
    • Alagille, D.1    Odievre, M.2    Gautier, M.3    Dommergues, J.P.4
  • 43
    • 0028128735 scopus 로고
    • Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular
    • Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA: Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular. Am J Hum Genet 55: 238-243, 1994.
    • (1994) Am J Hum Genet , vol.55 , pp. 238-243
    • Spinner, N.B.1    Rand, E.B.2    Fortina, P.3    Genin, A.4    Taub, R.5    Semeraro, A.6    Piccoli, D.A.7
  • 45
    • 0029863383 scopus 로고    scopus 로고
    • Alagille's syndrome associated with cystic renal disease
    • Martin, SR, Garel L, Alvarez F, Alagille's syndrome associated with cystic renal disease. Arch Dis Child 74: 232-235, 1996.
    • (1996) Arch Dis Child , vol.74 , pp. 232-235
    • Martin, S.R.1    Garel, L.2    Alvarez, F.3
  • 47
    • 0023554625 scopus 로고
    • Renal histopathology in Alagille's syndrome
    • Russo PA, Ellis D, Hashida Y: Renal histopathology in Alagille's syndrome. Pediatr Pathol 7: 557-568, 1987
    • (1987) Pediatr Pathol , vol.7 , pp. 557-568
    • Russo, P.A.1    Ellis, D.2    Hashida, Y.3
  • 52
    • 0025762432 scopus 로고
    • The peroxisome and the eye
    • Folz SJ, Trobe JD: The peroxisome and the eye. Surv Ophthalmol 35: 353-368, 1991
    • (1991) Surv Ophthalmol , vol.35 , pp. 353-368
    • Folz, S.J.1    Trobe, J.D.2
  • 53
    • 0030012854 scopus 로고    scopus 로고
    • Genetics of kidney development
    • Ekblom P: Genetics of kidney development. Curr Opin Nephrol Hypertens 5: 282-287, 1996
    • (1996) Curr Opin Nephrol Hypertens , vol.5 , pp. 282-287
    • Ekblom, P.1
  • 54
    • 0023709019 scopus 로고
    • Role of laminin A chain in the development of epithelial cell polarity
    • Klein G, Langegger M, Timpl R, Ekblom P: Role of laminin A chain in the development of epithelial cell polarity. Cell 55: 331-341, 1988
    • (1988) Cell , vol.55 , pp. 331-341
    • Klein, G.1    Langegger, M.2    Timpl, R.3    Ekblom, P.4
  • 57
    • 0028538898 scopus 로고
    • Drooping upper eyelids and polycystic kidney disease
    • Meyrier A, Simon P: Drooping upper eyelids and polycystic kidney disease. J Am Soc Nephrol 5: 1266-1270, 1994
    • (1994) J Am Soc Nephrol , vol.5 , pp. 1266-1270
    • Meyrier, A.1    Simon, P.2
  • 58
    • 0027305960 scopus 로고
    • Chorioretinal dysplasia-microcephalymental retardation syndrome: Report of an American family
    • Sadler LS, Robinson LK: Chorioretinal dysplasia-microcephalymental retardation syndrome: Report of an American family. Am J Med Genet 47: 65-68, 1993
    • (1993) Am J Med Genet , vol.47 , pp. 65-68
    • Sadler, L.S.1    Robinson, L.K.2
  • 59
    • 0027427492 scopus 로고
    • Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair
    • Veis DJ, Sorenson CM, Shutter JR, Korsmeyer SJ: Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair. Cell 75: 229-240, 1993
    • (1993) Cell , vol.75 , pp. 229-240
    • Veis, D.J.1    Sorenson, C.M.2    Shutter, J.R.3    Korsmeyer, S.J.4
  • 60
    • 0029127384 scopus 로고
    • The renal glomerulus of mice lacking s-laminin/laminin beta 2: Nephrosis despite molecular compensation by laminin beta 1
    • Noakes PG, Miner JH, Gautam M, Cunningham JM, Sanes JR, Merlie JP: The renal glomerulus of mice lacking s-laminin/laminin beta 2: Nephrosis despite molecular compensation by laminin beta 1. Nat Genet 10: 400-406, 1995
    • (1995) Nat Genet , vol.10 , pp. 400-406
    • Noakes, P.G.1    Miner, J.H.2    Gautam, M.3    Cunningham, J.M.4    Sanes, J.R.5    Merlie, J.P.6
  • 62
  • 64
    • 0033822536 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis
    • Koptides M, Deltas CC. Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis. Hum Genet 107: 115-126, 2000
    • (2000) Hum Genet , vol.107 , pp. 115-126
    • Koptides, M.1    Deltas, C.C.2
  • 66
    • 0025863170 scopus 로고
    • Clustering of features of von Hippel-Lindau syndrome: Evidence for a complex genetic locus
    • Neumann HP, Wiestler OD: Clustering of features of von Hippel-Lindau syndrome: Evidence for a complex genetic locus. Lancet 337: 1052-1054, 1991
    • (1991) Lancet , vol.337 , pp. 1052-1054
    • Neumann, H.P.1    Wiestler, O.D.2
  • 68
    • 0033037128 scopus 로고    scopus 로고
    • Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation
    • Webster AR, Maher ER, Moore AT: Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol 117: 371-378, 1999
    • (1999) Arch Ophthalmol , vol.117 , pp. 371-378
    • Webster, A.R.1    Maher, E.R.2    Moore, A.T.3
  • 69
    • 0022414098 scopus 로고
    • Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness
    • Gurwin EB, Fitzsimons RB, Sehmi KS, Bird AC: Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness. Arch Ophthalmol 103: 1695-1700, 1985
    • (1985) Arch Ophthalmol , vol.103 , pp. 1695-1700
    • Gurwin, E.B.1    Fitzsimons, R.B.2    Sehmi, K.S.3    Bird, A.C.4
  • 71
    • 0001377247 scopus 로고
    • Renal dysplasia and cystic disease of the kidney
    • edited by Walsh PC, Philadelphia, WB Saunders
    • th edition, edited by Walsh PC, Philadelphia, WB Saunders, 1992, 1461-1463
    • (1992) th Edition , pp. 1461-1463
    • Glassberg, K.I.1
  • 72
    • 0023802735 scopus 로고
    • Renal pathology in vHL disease
    • Solomon D, Schawartz A: Renal pathology in vHL disease. Hum Pathol 19: 1072-1079, 1988
    • (1988) Hum Pathol , vol.19 , pp. 1072-1079
    • Solomon, D.1    Schawartz, A.2
  • 74
    • 0038210536 scopus 로고    scopus 로고
    • Choroidal hemangiomas
    • edited by Yanoff M, Duker JS, London, Mosby
    • Augsburger JJ, Anand R, Sanborn GE: Choroidal hemangiomas. In: Ophthalmology, edited by Yanoff M, Duker JS, London, Mosby, 1999, 1-4
    • (1999) Ophthalmology , pp. 1-4
    • Augsburger, J.J.1    Anand, R.2    Sanborn, G.E.3
  • 75
    • 0035376170 scopus 로고    scopus 로고
    • A case of glaucoma associated with Sturge-Weber syndrome and Nevus of Ota
    • Lee H, Choi SS, Kim SS, Hong YJ: A case of glaucoma associated with Sturge-Weber syndrome and Nevus of Ota. Korean J Ophthalmol 15: 48-53, 2001
    • (2001) Korean J Ophthalmol , vol.15 , pp. 48-53
    • Lee, H.1    Choi, S.S.2    Kim, S.S.3    Hong, Y.J.4
  • 76
    • 0033798941 scopus 로고    scopus 로고
    • Ocular findings in Sturge-Weber syndrome
    • Celebi S, Alagoz G, Aykan U: Ocular findings in Sturge-Weber syndrome. Eur J Ophthalmol 10: 239-243, 2000
    • (2000) Eur J Ophthalmol , vol.10 , pp. 239-243
    • Celebi, S.1    Alagoz, G.2    Aykan, U.3
  • 77
    • 84975519893 scopus 로고    scopus 로고
    • Bilateral optic neuropathy associated with diffuse cerebral angiomatosis in Sturge-Weber syndrome
    • Sadda SR, Miller NR, Tamargo R, Wityk R: Bilateral optic neuropathy associated with diffuse cerebral angiomatosis in Sturge-Weber syndrome. J Neuroophthalmol 20: 28-31, 2000
    • (2000) J Neuroophthalmol , vol.20 , pp. 28-31
    • Sadda, S.R.1    Miller, N.R.2    Tamargo, R.3    Wityk, R.4
  • 78
    • 0022480595 scopus 로고
    • Klippel-Trenaunay and Sturge-Weber syndromes with renal hemangioma and double inferior vena cava
    • Schofield D, Zaatari GS, Gay BB: Klippel-Trenaunay and Sturge-Weber syndromes with renal hemangioma and double inferior vena cava. J Urol 136: 442-445, 1986
    • (1986) J Urol , vol.136 , pp. 442-445
    • Schofield, D.1    Zaatari, G.S.2    Gay, B.B.3
  • 79
    • 0000631996 scopus 로고
    • Les phakomatoses de bourneville de recklinghausen et de von Hippel-Lindau
    • Van der Hoeve J: Les phakomatoses de Bourneville de Recklinghausen et de von Hippel-Lindau. J Belg Neurol Psychiatr 33: 752-762, 1933
    • (1933) J Belg Neurol Psychiatr , vol.33 , pp. 752-762
    • Van der Hoeve, J.1
  • 80
    • 0034023746 scopus 로고    scopus 로고
    • National Institutes of Health consensus conference: Tuberous sclerosis complex
    • Hyman MH, Whittemore VH: National Institutes of Health consensus conference: Tuberous sclerosis complex. Arch Neurol 57: 662-665, 2000
    • (2000) Arch Neurol , vol.57 , pp. 662-665
    • Hyman, M.H.1    Whittemore, V.H.2
  • 83
    • 0012888012 scopus 로고
    • Other organ systems in relation to kidney disease
    • edited by Cameron S, Davison AM, Grünfeld JP, Kerr D, Ritz E, New York, Oxford Univsersity Press
    • st edition, edited by Cameron S, Davison AM, Grünfeld JP, Kerr D, Ritz E, New York, Oxford Univsersity Press, 1992, 2143-2144
    • (1992) st Edition , pp. 2143-2144
    • Rascher, W.1
  • 84
    • 0020084540 scopus 로고
    • Chronic renal failure in patients with tuberous sclerosis association with renal cysts
    • Okada RD, Platt MA, Fleishman J. Chronic renal failure in patients with tuberous sclerosis association with renal cysts. Nephron 30: 85-88, 1982
    • (1982) Nephron , vol.30 , pp. 85-88
    • Okada, R.D.1    Platt, M.A.2    Fleishman, J.3
  • 85
    • 0012854968 scopus 로고
    • Neonatal, congenital, and heritable disorders
    • edited by Edelmann CM Jr, Boston, Little Brown
    • nd edition, edited by Edelmann CM Jr, Boston, Little Brown, 1992, pp 1072-1076
    • (1992) nd Edition , pp. 1072-1076
    • Opitz, J.M.1    Barnes, E.G.2
  • 86
    • 0023883890 scopus 로고
    • Angiomyolipoma: Clinical metamorphosis and concepts for management
    • Blute ML, Malek RS, Segura JW: Angiomyolipoma: Clinical metamorphosis and concepts for management. J Urol 139: 20-24, 1988
    • (1988) J Urol , vol.139 , pp. 20-24
    • Blute, M.L.1    Malek, R.S.2    Segura, J.W.3
  • 87
    • 0023223127 scopus 로고
    • Renal angiomyolipoma as a cause of fever of unknown origin
    • Vekemans K, Van Oyen P, Denys H, Vergison R: Renal angiomyolipoma as a cause of fever of unknown origin. Br J Urol 60: 271, 1987
    • (1987) Br J Urol , vol.60 , pp. 271
    • Vekemans, K.1    Van Oyen, P.2    Denys, H.3    Vergison, R.4
  • 88
    • 0025826613 scopus 로고
    • Renal involvement in tuberous sclerosis
    • Bernstein J, Robbins TO: Renal involvement in tuberous sclerosis. Ann NY Acad Sci 615: 36-49, 1991
    • (1991) Ann NY Acad Sci , vol.615 , pp. 36-49
    • Bernstein, J.1    Robbins, T.O.2
  • 89
    • 0028051871 scopus 로고
    • Deltion of the TSC-2 and PKD1 genes associated with sever infantile polycystic kidney disease: A contiguous gene syndrome
    • Brook-Carter PT, Peral B, Ward CJ, Thompson P et al: Deltion of the TSC-2 and PKD1 genes associated with sever infantile polycystic kidney disease: A contiguous gene syndrome. Nat Genet 8: 328-332, 1994
    • (1994) Nat Genet , vol.8 , pp. 328-332
    • Brook-Carter, P.T.1    Peral, B.2    Ward, C.J.3    Thompson, P.4
  • 90
    • 0025865333 scopus 로고
    • Malignant renal tumors in tuberous sclerosis
    • Washecka R, Hanna M: Malignant renal tumors in tuberous sclerosis. Urology 37: 340-343, 1991
    • (1991) Urology , vol.37 , pp. 340-343
    • Washecka, R.1    Hanna, M.2
  • 93
    • 0022345769 scopus 로고
    • Vascular dysplasia in a child with tuberous sclerosis
    • Rolfes DB, Towbin R, Bove KE: Vascular dysplasia in a child with tuberous sclerosis. Pediabic Pathol 3: 359-373, 1985
    • (1985) Pediabic Pathol , vol.3 , pp. 359-373
    • Rolfes, D.B.1    Towbin, R.2    Bove, K.E.3
  • 96
    • 84965236793 scopus 로고
    • Hereditary familial congenital haemorrhagic nephritis
    • Alport, AC: Hereditary familial congenital haemorrhagic nephritis. Brit Med J 1: 504-506, 1927
    • (1927) Brit Med J , vol.1 , pp. 504-506
    • Alport, A.C.1
  • 100
    • 0020626685 scopus 로고
    • Ocular manifestations of Alport's syndrome: A hereditary disorder of basement membranes?
    • Govan JA: Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 67: 493-503, 1983
    • (1983) Br J Ophthalmol , vol.67 , pp. 493-503
    • Govan, J.A.1
  • 102
    • 0028329547 scopus 로고
    • COL4A5 gene deletion and production of post-transplant anti-alpha-3(IV) collagen alloantibodies in Alport syndrome
    • Kalluri R, Weber M, Netzer K-O, Sun MJ, Neilson EG, Hudson BG: COL4A5 gene deletion and production of post-transplant anti-alpha-3(IV) collagen alloantibodies in Alport syndrome. Kidney Int 45: 721-726, 1994
    • (1994) Kidney Int , vol.45 , pp. 721-726
    • Kalluri, R.1    Weber, M.2    Netzer, K.-O.3    Sun, M.J.4    Neilson, E.G.5    Hudson, B.G.6
  • 103
    • 0020070803 scopus 로고
    • Renal transplantation in Alport's syndrome: Anti-glomerular basement membrane glomerulonephritis in the allograft
    • Milliner DS, Pierides AM, Holley KE: Renal transplantation in Alport's syndrome: Anti-glomerular basement membrane glomerulonephritis in the allograft. Mayo Clin Proc 57: 35-43, 1982
    • (1982) Mayo Clin Proc , vol.57 , pp. 35-43
    • Milliner, D.S.1    Pierides, A.M.2    Holley, K.E.3
  • 104
    • 0034975148 scopus 로고    scopus 로고
    • Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness
    • Richardson D, Shires M, Davison AM: Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness. Nephrol Dial Transplant 16: 1291-1294, 2001
    • (2001) Nephrol Dial Transplant , vol.16 , pp. 1291-1294
    • Richardson, D.1    Shires, M.2    Davison, A.M.3
  • 105
    • 0017122798 scopus 로고
    • Localisation of the human ABO: Np-1:AK-1 linkage group by regional assignment of AK-1 to 9q34
    • Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J: Localisation of the human ABO: Np-1:AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet 34: 35-43, 1976
    • (1976) Hum Genet , vol.34 , pp. 35-43
    • Ferguson-Smith, M.A.1    Aitken, D.A.2    Turleau, C.3    De Grouchy, J.4
  • 106
    • 0014786353 scopus 로고
    • A syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, and cryptorchidism and absent patellae. Report of 2 cases in siblings
    • Singh SD, Chhaparwal BC, Dhanda RP, Pohowalla JN: A syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, and cryptorchidism and absent patellae. Report of 2 cases in siblings. Indian J Pediatr 37: 197-199, 1970
    • (1970) Indian J Pediatr , vol.37 , pp. 197-199
    • Singh, S.D.1    Chhaparwal, B.C.2    Dhanda, R.P.3    Pohowalla, J.N.4
  • 107
    • 0032792022 scopus 로고    scopus 로고
    • Glaucoma genetics: Where are we? Where will we go?
    • Craig JE, Mackey DA: Glaucoma genetics: where are we? Where will we go? Curr Opin Ophthalmol 10: 126-134, 1999
    • (1999) Curr Opin Ophthalmol , vol.10 , pp. 126-134
    • Craig, J.E.1    Mackey, D.A.2
  • 108
    • 0014819357 scopus 로고
    • Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy
    • Simila S, Vesa L, Wasz-Hockert O: Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. Pediatrics 46: 61-65, 1970
    • (1970) Pediatrics , vol.46 , pp. 61-65
    • Simila, S.1    Vesa, L.2    Wasz-Hockert, O.3
  • 109
    • 0025552074 scopus 로고
    • The Nail-Patella syndrome. A review
    • Meyrier A, Rizzo R, Gubler MC: The Nail-Patella syndrome. A review. J Nephrol 2: 133-140, 1990
    • (1990) J Nephrol , vol.2 , pp. 133-140
    • Meyrier, A.1    Rizzo, R.2    Gubler, M.C.3
  • 111
    • 0021929040 scopus 로고
    • Membranous nephropathy in a patient with nail-patella syndrome nephropathy
    • Mackay IG, Doig A, Thomson D: Membranous nephropathy in a patient with nail-patella syndrome nephropathy. Scottish Med J 30: 47-49, 1985
    • (1985) Scottish Med J , vol.30 , pp. 47-49
    • Mackay, I.G.1    Doig, A.2    Thomson, D.3
  • 112
    • 0023189139 scopus 로고
    • Vasculitis and renal disease in nail-patella syndrome: Case report and literature review
    • Croodk AD, Bashar Kahaleh M, Powers JM: Vasculitis and renal disease in nail-patella syndrome: Case report and literature review. Ann Rheum Dis 46: 562-565, 1987
    • (1987) Ann Rheum Dis , vol.46 , pp. 562-565
    • Croodk, A.D.1    Bashar Kahaleh, M.2    Powers, J.M.3
  • 115
    • 0023687399 scopus 로고
    • Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy
    • Looij BJ Jr, Te Slaa RL, Hogewind BL, van de Kamp JJP: Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. J Med Genet 25: 682-686, 1988
    • (1988) J Med Genet , vol.25 , pp. 682-686
    • Looij B.J., Jr.1    Te Slaa, R.L.2    Hogewind, B.L.3    Van de Kamp, J.J.P.4
  • 116
    • 84984084531 scopus 로고
    • Male and female recombination fractions for the nail patella: ABO linkage in man
    • Renwick JH, Schulze J: Male and female recombination fractions for the nail patella: ABO linkage in man. Ann Hum Genet 28: 379-392, 1965
    • (1965) Ann Hum Genet , vol.28 , pp. 379-392
    • Renwick, J.H.1    Schulze, J.2
  • 119
  • 120
    • 0023859345 scopus 로고
    • Familial LCAT deficiency and fish-eye disease
    • McIntyre N: Familial LCAT deficiency and fish-eye disease. J Inher Metab Dis 11: 45-56, 1988
    • (1988) J Inher Metab Dis , vol.11 , pp. 45-56
    • McIntyre, N.1
  • 121
    • 0000578727 scopus 로고
    • Familial lecithin:Cholesterol acyltransferase deficiency including fish eye disease
    • edited by Scriver CR, Beaudet AL, Sly WS, Valle D, New York McGraw, Hill
    • Norum KR, Gjone E, Glomset JA: Familial lecithin:cholesterol acyltransferase deficiency including fish eye disease. In: The Metabolic Basis of Inherited Disease, edited by Scriver CR, Beaudet AL, Sly WS, Valle D, New York McGraw-Hill, 1989, pp 1181-1194
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1181-1194
    • Norum, K.R.1    Gjone, E.2    Glomset, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.