메뉴 건너뛰기




Volumn 6, Issue 2, 2013, Pages 144-149

Congenital anomalies of kidney and hand: A review

Author keywords

acro renal syndrome; CAKUT; URA; vesicoureteric reflux

Indexed keywords

ACRORENAL SYNDROME; ADULT; BONE RADIOGRAPHY; CASE REPORT; GENETIC ANALYSIS; HUMAN; HYDROURETER; KIDNEY AGENESIS; KIDNEY HYPOPLASIA; MALE; METACARPAL BONE; PRIORITY JOURNAL; REVIEW; SKELETON MALFORMATION; VESICOURETERAL REFLUX;

EID: 84875705178     PISSN: 20488505     EISSN: 20488513     Source Type: Journal    
DOI: 10.1093/ckj/sfs186     Document Type: Review
Times cited : (17)

References (81)
  • 1
    • 0026701702 scopus 로고
    • Patterns of acrorenal malformation associations
    • Evans JA, Vitez M, Czeizel A. Patterns of acrorenal malformation associations. Am J Med Genet 1992; 44: 413-419
    • (1992) Am J Med Genet , vol.44 , pp. 413-419
    • Evans, J.A.1    Vitez, M.2    Czeizel, A.3
  • 2
    • 0024429647 scopus 로고
    • Acrorenal syndrome in an adult-presentation with proteinuria, hypertension and glomerular lesions
    • Zeier M, Tariverdian G, Waldherr R et al. Acrorenal syndrome in an adult-presentation with proteinuria, hypertension and glomerular lesions. Am J Kidney Dis 1989; 14: 221-224
    • (1989) Am J Kidney Dis , vol.14 , pp. 221-224
    • Zeier, M.1    Tariverdian, G.2    Waldherr, R.3
  • 3
    • 77956168217 scopus 로고    scopus 로고
    • Congenital Anomalies of Kidney and Urinary Tract
    • Hakan RT, Okan T, Ali H et al. Congenital Anomalies of Kidney and Urinary Tract. Semin Nephrol 2010; 30: 374-386
    • (2010) Semin Nephrol , vol.30 , pp. 374-386
    • Hakan, R.T.1    Okan, T.2    Ali, H.3
  • 4
    • 67349148976 scopus 로고    scopus 로고
    • Paraxial mesoderm contributes stromal cells to the developing kidney
    • Guillaume R, Bressan M, Herzlinger D. Paraxial mesoderm contributes stromal cells to the developing kidney. Dev Biol 2009; 329: 169-175
    • (2009) Dev Biol , vol.329 , pp. 169-175
    • Guillaume, R.1    Bressan, M.2    Herzlinger, D.3
  • 5
    • 0036688816 scopus 로고    scopus 로고
    • The molecular control of renal branching morphogenesis: Current knowledge and emerging insights
    • Piscione TD, Rosenblum N. The molecular control of renal branching morphogenesis: current knowledge and emerging insights. Differentiation 2002; 70: 227-246
    • (2002) Differentiation , vol.70 , pp. 227-246
    • Piscione, T.D.1    Rosenblum, N.2
  • 6
    • 33646253412 scopus 로고    scopus 로고
    • Urological anomalies in children with renal agenesis or multicystic dysplastic kidney
    • Krzemien G, Blaim MR, Kostro I et al. Urological anomalies in children with renal agenesis or multicystic dysplastic kidney. J Appl Genet 2006: 47: 171-176
    • (2006) J Appl Genet , vol.47 , pp. 171-176
    • Krzemien, G.1    Blaim, M.R.2    Kostro, I.3
  • 7
    • 17444408884 scopus 로고    scopus 로고
    • Concomitant anomalies in 100 children with unilateral multicystic kidney
    • Elias HAM, Stoutenbeek PH, Visser GHA et al. Concomitant anomalies in 100 children with unilateral multicystic kidney. Ultrasound Obstet Gynecol 2005; 25: 384-388
    • (2005) Ultrasound Obstet Gynecol , vol.25 , pp. 384-388
    • Ham, E.1    Stoutenbeek, P.H.2    Gha, V.3
  • 8
    • 62349105041 scopus 로고    scopus 로고
    • Are children with con-genital solitary kidney at risk for lifelong complications? A lack of prediction demands caution
    • Zaffanello M, Brugnara M, Zuffante M et al. Are children with con-genital solitary kidney at risk for lifelong complications? A lack of prediction demands caution. Int Urol Nephrol 2009; 41: 127-135
    • (2009) Int Urol Nephrol , vol.41 , pp. 127-135
    • Zaffanello, M.1    Brugnara, M.2    Zuffante, M.3
  • 9
    • 33749241883 scopus 로고    scopus 로고
    • Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE study
    • Weber S, Moriniere V, Knuppel T et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 2006; 17: 2864-2870
    • (2006) J Am Soc Nephrol , vol.17 , pp. 2864-2870
    • Weber, S.1    Moriniere, V.2    Knuppel, T.3
  • 10
    • 20444419839 scopus 로고    scopus 로고
    • Risk of specific congenital abnormalities in offspring of women with diabetes
    • Nielsen GL, Norgard B, Puho E et al. Risk of specific congenital abnormalities in offspring of women with diabetes. Diabet Med 2005; 22: 693-696
    • (2005) Diabet Med , vol.22 , pp. 693-696
    • Nielsen, G.L.1    Norgard, B.2    Puho, E.3
  • 11
    • 77957253564 scopus 로고    scopus 로고
    • Renal malformations associated with mutations of developmental genes: Messages from the clinic
    • Adalat S, Bockenhauer D, Sarah E et al. Renal malformations associated with mutations of developmental genes: messages from the clinic. Pediatr Nephrol 2010; 25: 2247-2255
    • (2010) Pediatr Nephrol , vol.25 , pp. 2247-2255
    • Adalat, S.1    Bockenhauer, D.2    Sarah, E.3
  • 12
    • 44049097197 scopus 로고    scopus 로고
    • SIX2 and BMP4 mutations associate with anomalous kidney development
    • Weber S, Taylor JC, Winyard P et al. SIX2 and BMP4 mutations associate with anomalous kidney development. J Am Soc Nephrol 2008; 19: 891-803
    • (2008) J Am Soc Nephrol , vol.19 , pp. 891-803
    • Weber, S.1    Taylor, J.C.2    Winyard, P.3
  • 13
    • 68249130257 scopus 로고    scopus 로고
    • UK Renal Registry 11th Annual Report (December 2008): Chapter 13 demography of the UK paediatric renal replacement therapy population
    • Lewis MA, Shaw J, Sinha M et al. UK Renal Registry 11th Annual Report (December 2008): chapter 13 demography of the UK paediatric renal replacement therapy population. Nephron Clin Pract 2009; 111: 257-267
    • (2009) Nephron Clin Pract , vol.111 , pp. 257-267
    • Lewis, M.A.1    Shaw, J.2    Sinha, M.3
  • 14
    • 0033281402 scopus 로고    scopus 로고
    • No stinkfinger and renal failure-do you see a link?
    • Zeier M, Ritz E. No stinkfinger and renal failure-do you see a link? Nephrol Dial Transplant 1999; 14: 2763-2765
    • (1999) Nephrol Dial Transplant , vol.14 , pp. 2763-2765
    • Zeier, M.1    Ritz, E.2
  • 15
    • 0015345394 scopus 로고
    • Associated acral and renal malformations: A new syndrome?
    • Curran AS, Curran JP. Associated acral and renal malformations: a new syndrome? Pediatrics 1972; 49: 716-725
    • (1972) Pediatrics , vol.49 , pp. 716-725
    • Curran, A.S.1    Curran, J.P.2
  • 16
    • 0032856976 scopus 로고    scopus 로고
    • Associated urological anomalies in children with unilateral renal agenesis
    • Cascio S, Paran S, Puri P. Associated urological anomalies in children with unilateral renal agenesis. J Urol 1999; 162: 1081-1083
    • (1999) J Urol , vol.162 , pp. 1081-1083
    • Cascio, S.1    Paran, S.2    Puri, P.3
  • 17
    • 4344660021 scopus 로고    scopus 로고
    • Renal defects and limb deficiencies in 197 infants: Is it possible to define the "acrorenal syndrome"?
    • Kroes HY, Olney RS, Rosano A et al. Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"? Am J Med Genet 2004; 129:149-155
    • (2004) Am J Med Genet , vol.129 , pp. 149-155
    • Kroes, H.Y.1    Olney, R.S.2    Rosano, A.3
  • 18
    • 0028038888 scopus 로고
    • Acrorenal Syndrome in a Child with Renal Failure
    • Akl K. Acrorenal Syndrome in a Child With Renal Failure. Am J Med Genet 1994; 49: 447
    • (1994) Am J Med Genet , vol.49 , pp. 447
    • Akl, K.1
  • 19
    • 0034679903 scopus 로고    scopus 로고
    • Limb defects associated with major congenital anomalies: Clinical and epidemiological study from the International Clearinghouse for birth defects monitoring systems
    • Rosano A, Botto LD, Olney RS et al. Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for birth defects monitoring systems. Am J Med Genet 2000; 93: 110-116
    • (2000) Am J Med Genet , vol.93 , pp. 110-116
    • Rosano, A.1    Botto, L.D.2    Olney, R.S.3
  • 20
    • 0024529470 scopus 로고
    • Nature of renal involvement in the acro-renal-ocular syndrome
    • Naito T, Kida H, Yokoyama H et al. Nature of renal involvement in the acro-renal-ocular syndrome. Nephron 1989; 51:115
    • (1989) Nephron , vol.51 , pp. 115
    • Naito, T.1    Kida, H.2    Yokoyama, H.3
  • 21
    • 0021220678 scopus 로고
    • Acro-renal-ocular syndrome: Autosomal dominant thumb hypoplasia, renal ectopia, and eye defect
    • Halal F, Homsy M, Perreault G. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet 1984; 17: 753
    • (1984) Am J Med Genet , vol.17 , pp. 753
    • Halal, F.1    Homsy, M.2    Perreault, G.3
  • 22
    • 0023919774 scopus 로고
    • Optic nerve colobo-ma associated with renal disease
    • Weaver RG, Cashwell LF, Lorentz W et al. Optic nerve colobo-ma associated with renal disease. Am J Med Genet 1988; 29: 597-602
    • (1988) Am J Med Genet , vol.29 , pp. 597-602
    • Weaver, R.G.1    Cashwell, L.F.2    Lorentz, W.3
  • 23
    • 0842348809 scopus 로고    scopus 로고
    • Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation
    • Albrecht B, Liebers M, Kohlhase J. Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. Am J Med Genet A 2004; 125: 102-104
    • (2004) Am J Med Genet A , vol.125 , pp. 102-104
    • Albrecht, B.1    Liebers, M.2    Kohlhase, J.3
  • 24
    • 0033814788 scopus 로고    scopus 로고
    • Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1
    • Buck A, Archangelo L, Dixkens C et al. Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. Cytogenet Cell Gene 2000; 89: 150-153
    • (2000) Cytogenet Cell Gene , vol.89 , pp. 150-153
    • Buck, A.1    Archangelo, L.2    Dixkens, C.3
  • 25
    • 0037158490 scopus 로고    scopus 로고
    • Somatic mosaicism and variable expression of Townes-Brocks syndrome
    • Devriendt K, Fryns JP, Lemmens F et al. Somatic mosaicism and variable expression of Townes-Brocks syndrome. Am J Med Genet 2002; 111: 230-231
    • (2002) Am J Med Genet , vol.111 , pp. 230-231
    • Devriendt, K.1    Fryns, J.P.2    Lemmens, F.3
  • 26
    • 0034042540 scopus 로고    scopus 로고
    • A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype
    • Engels S, Kohlhase J, McGaughran J. A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. J Med Genet 2000; 37: 458-460
    • (2000) J Med Genet , vol.37 , pp. 458-460
    • Engels, S.1    Kohlhase, J.2    McGaughran, J.3
  • 27
    • 0032692403 scopus 로고    scopus 로고
    • Pallister-Hall syndrome: Clinical and MR features
    • Kuo JS, Casey SO, Thompson L et al. Pallister-Hall syndrome: clinical and MR features. Am J Neuroradiol 1999; 20: 1839-1841
    • (1999) Am J Neuroradiol , vol.20 , pp. 1839-1841
    • Kuo, J.S.1    Casey, S.O.2    Thompson, L.3
  • 29
    • 0019210894 scopus 로고
    • Congenital hypothala-mic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? Clinical, causal and pathogenetic considerations
    • Hall JG, Pallister PD, Clarren SK et al. Congenital hypothala-mic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? Clinical, causal and pathogenetic considerations. Am J Med Genet 1980; 7: 47-74
    • (1980) Am J Med Genet , vol.7 , pp. 47-74
    • Hall, J.G.1    Pallister, P.D.2    Clarren, S.K.3
  • 30
    • 0028789342 scopus 로고
    • Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: A variant of Pallister-Hall syndrome
    • Low M, Moringlane JR, Reif J et al. Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. Clin Genet 1995; 48: 209-212
    • (1995) Clin Genet , vol.48 , pp. 209-212
    • Low, M.1    Moringlane, J.R.2    Reif, J.3
  • 31
    • 0000468174 scopus 로고
    • Acro-osteolysis
    • Cheney WD. Acro-osteolysis. Am J Roentgenol 1965; 94: 595-560
    • (1965) Am J Roentgenol , vol.94 , pp. 595-560
    • Cheney, W.D.1
  • 32
    • 0034838773 scopus 로고    scopus 로고
    • A child with polycystic kidney disease-do we care about associated malformations?
    • Strassburg A, Schirg E, Enrich HJH. A child with polycystic kidney disease-do we care about associated malformations? Nephrol Dial Transplant 2001; 16: 1942-1944
    • (2001) Nephrol Dial Transplant , vol.16 , pp. 1942-1944
    • Strassburg, A.1    Schirg, E.2    Hjh, E.3
  • 33
    • 0034601190 scopus 로고    scopus 로고
    • Severe acrorenal-uterine-mandibular syndrome
    • Evans JA, Phillips S, Reed M et al. Severe acrorenal-uterine-mandibular syndrome. Am J Med Genet 2000; 93: 67-73
    • (2000) Am J Med Genet , vol.93 , pp. 67-73
    • Evans, J.A.1    Phillips, S.2    Reed, M.3
  • 34
    • 0035159980 scopus 로고    scopus 로고
    • A case of Acro-renal-mandibular syndrome in an 18-week male foetus
    • Tobias ES, Patrick WJA, MacKenzie JR et al. A case of Acro-renal-mandibular syndrome in an 18-week male foetus. Clin Dysmorphol 2001; 10: 61-64
    • (2001) Clin Dysmorphol , vol.10 , pp. 61-64
    • Tobias, E.S.1    Wja, P.2    MacKenzie, J.R.3
  • 36
    • 0036712853 scopus 로고    scopus 로고
    • Fraser syndrome and cryptophthal-mos: A review of the diagnostic criteria and evidence of phe-notypic modules
    • Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthal-mos: a review of the diagnostic criteria and evidence of phe-notypic modules. J Med Genet 2002; 39: 623-633
    • (2002) J Med Genet , vol.39 , pp. 623-633
    • Slavotinek, A.M.1    Tifft, C.J.2
  • 37
    • 0037872680 scopus 로고    scopus 로고
    • Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
    • McGregor L, Makela V, Darling SM et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 2003; 34: 203-208
    • (2003) Nat Genet , vol.34 , pp. 203-208
    • McGregor, L.1    Makela, V.2    Darling, S.M.3
  • 38
    • 0028009094 scopus 로고
    • Short rib poly-dactyly syndrome and pericentric inversion of chromosome
    • Urioste M, Martínez-Frías ML, Bermejo E et al. Short rib poly-dactyly syndrome and pericentric inversion of chromosome. Am J Med Genet 1994; 49: 94-97
    • (1994) Am J Med Genet , vol.49 , pp. 94-97
    • Urioste, M.1    Martínez-Frías, M.L.2    Bermejo, E.3
  • 39
    • 0015541929 scopus 로고
    • The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects
    • Quan L, Smith DW. The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects. J Pediatr 1973; 82: 104-107
    • (1973) J Pediatr , vol.82 , pp. 104-107
    • Quan, L.1    Smith, D.W.2
  • 40
    • 0021801019 scopus 로고
    • The developmental field concept
    • Opitz JM. The developmental field concept. Am J Med Genet 1985; 21: 1-11
    • (1985) Am J Med Genet , vol.21 , pp. 1-11
    • Opitz, J.M.1
  • 41
    • 0016279187 scopus 로고
    • Extending the scope of the VATER association: Definition of the VATER syndrome
    • Temtamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr 1974; 85: 345-349
    • (1974) J Pediatr , vol.85 , pp. 345-349
    • Temtamy, S.A.1    Miller, J.D.2
  • 42
    • 0030002181 scopus 로고    scopus 로고
    • VACTERL association, epidemiologic definition and delineation
    • Rittler M, Paz JE, Castilla EE. VACTERL association, epidemiologic definition and delineation. Am J Med Genet 1996; 63: 529-536
    • (1996) Am J Med Genet , vol.63 , pp. 529-536
    • Rittler, M.1    Paz, J.E.2    Castilla, E.E.3
  • 43
    • 0022374474 scopus 로고
    • An aetiological study of the VACTERL-association
    • Czeizel A, Ludanyi I. An aetiological study of the VACTERL-association. Eur J Pediatr 1985; 144: 331-337
    • (1985) Eur J Pediatr , vol.144 , pp. 331-337
    • Czeizel, A.1    Ludanyi, I.2
  • 44
    • 16344365687 scopus 로고    scopus 로고
    • Duplication of chromosome 4q: Renal pathology of two siblings
    • Otsuka T, Fujinaka H, Immamura M et al. Duplication of chromosome 4q: renal pathology of two siblings. Am J Med Genet A 2005; 134: 330-333
    • (2005) Am J Med Genet A , vol.134 , pp. 330-333
    • Otsuka, T.1    Fujinaka, H.2    Immamura, M.3
  • 46
    • 0018332940 scopus 로고
    • The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothor-acic somite dysplasia
    • Duncan PA, Shapiro LR, Stangel JJ et al. The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothor-acic somite dysplasia. J Pediatr 1979; 95: 399-402
    • (1979) J Pediatr , vol.95 , pp. 399-402
    • Duncan, P.A.1    Shapiro, L.R.2    Stangel, J.J.3
  • 47
    • 0032693818 scopus 로고    scopus 로고
    • Rokitansky syndrome and MURCS association-clinical features and basis for diagnosis
    • Lira CS, Forbin K, Martinez CJC. Rokitansky syndrome and MURCS association-clinical features and basis for diagnosis. Int J Fertil Women Med 1999; 45: 250-255
    • (1999) Int J Fertil Women Med , vol.45 , pp. 250-255
    • Lira, C.S.1    Forbin, K.2    Martinez, C.J.C.3
  • 48
    • 0018602444 scopus 로고
    • Risk of recurrence in usually nongenetic malformation syndromes
    • Gorlin RJ. Risk of recurrence in usually nongenetic malformation syndromes. Birth Defects Orig Artic Ser 1979; 15: 181-188
    • (1979) Birth Defects Orig Artic ser , vol.15 , pp. 181-188
    • Gorlin, R.J.1
  • 50
    • 0024532699 scopus 로고
    • Aplasia of pectoralis major muscle and renal anomalies
    • Hedge HR, Leung AKC. Aplasia of pectoralis major muscle and renal anomalies. Am J Med Genet 1989; 32: 109-111
    • (1989) Am J Med Genet , vol.32 , pp. 109-111
    • Hedge, H.R.1    Leung, A.K.C.2
  • 51
    • 0034173422 scopus 로고    scopus 로고
    • Poland's syndrome with renal hypertension
    • Pranava VM, Rao PSSS, Neelachalam A et al. Poland's syndrome with renal hypertension. JAPI 2000; 48: 452-453
    • (2000) JAPI , vol.48 , pp. 452-453
    • Pranava, V.M.1    Psss, R.2    Neelachalam, A.3
  • 52
    • 0015299339 scopus 로고
    • Poland's syndrome: Report of seven cases and review of the literature
    • Mace JW, Kaplan JM, Schanberger JE et al. Poland's syndrome: report of seven cases and review of the literature. Clin Pediatr 1972; 11: 98-102
    • (1972) Clin Pediatr , vol.11 , pp. 98-102
    • MacE, J.W.1    Kaplan, J.M.2    Schanberger, J.E.3
  • 53
    • 44049090093 scopus 로고    scopus 로고
    • Maternal diabetes modulates renal morphogenesis in offspring
    • Tran S, Chen YW, Chenier I et al. Maternal diabetes modulates renal morphogenesis in offspring. J Am Soc Nephrol 2008; 19: 943-952
    • (2008) J Am Soc Nephrol , vol.19 , pp. 943-952
    • Tran, S.1    Chen, Y.W.2    Chenier, I.3
  • 54
    • 0016434623 scopus 로고
    • A syndrome of multiple congenital anomalies associated with teratogenic exposure
    • Nora AH, Nora JJ. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health 1975; 30: 17-21
    • (1975) Arch Environ Health , vol.30 , pp. 17-21
    • Nora, A.H.1    Nora, J.J.2
  • 55
    • 12644259674 scopus 로고
    • Congenital absence of the kidney: An interpretation based on a 10-mm. human embryo exhibited unilateral renal agenesis
    • Boyden EA. Congenital absence of the kidney: an interpretation based on a 10-mm. human embryo exhibited unilateral renal agenesis. Anat Rec 1932; 52: 325-349
    • (1932) Anat Rec , vol.52 , pp. 325-349
    • Boyden, E.A.1
  • 56
    • 0036233703 scopus 로고    scopus 로고
    • Renal aplasia is the predominant cause of congenital solitary kidneys
    • Hiraoka M, Tsukkahara H, Ohshima Y et al. Renal aplasia is the predominant cause of congenital solitary kidneys. Kidney Int 2002; 61: 1840-1844
    • (2002) Kidney Int , vol.61 , pp. 1840-1844
    • Hiraoka, M.1    Tsukkahara, H.2    Ohshima, Y.3
  • 58
    • 35248875750 scopus 로고    scopus 로고
    • Renal agenesis: Report of an interesting case
    • Mishra A. Renal agenesis: report of an interesting case. Br J Radiol 2007; 80: e167-e169
    • (2007) Br J Radiol , vol.80
    • Mishra, A.1
  • 59
    • 30944449471 scopus 로고    scopus 로고
    • Unilateral multicystic dysplastic kidney
    • Woolf AS. Unilateral multicystic dysplastic kidney. Kidney Int 2006; 69: 190-193
    • (2006) Kidney Int , vol.69 , pp. 190-193
    • Woolf, A.S.1
  • 60
    • 33746807399 scopus 로고    scopus 로고
    • Solitary kidney. Study of renal morphology and function in 95 children
    • de Lucas C, Nocea A, San Roman J et al. Solitary kidney. Study of renal morphology and function in 95 children. Nefrología 2006; 26: 56-63
    • (2006) Nefrología , vol.26 , pp. 56-63
    • De Lucas, C.1    Nocea, A.2    San Roman, J.3
  • 61
    • 80052825792 scopus 로고    scopus 로고
    • Schreude. Unilateral anomalies of kidney development: Why is left not right?
    • Michiel F. Schreude. Unilateral anomalies of kidney development: why is left not right? Kidney Int 2011; 80: 740-745
    • (2011) Kidney Int , vol.80 , pp. 740-745
    • Michiel, F.1
  • 62
    • 0027400948 scopus 로고
    • Contralateral renal abnormalities in patients with renal agenesis and noncystic renal dysplasia
    • Atiyeh B, Husmann D, Baum M. Contralateral renal abnormalities in patients with renal agenesis and noncystic renal dysplasia. Pediatrics 1993; 91: 812-815
    • (1993) Pediatrics , vol.91 , pp. 812-815
    • Atiyeh, B.1    Husmann, D.2    Baum, M.3
  • 63
    • 33845506693 scopus 로고    scopus 로고
    • Unilateral renal agenesis and the congenital solitary functioning kidney: Developmental, genetic and clinical perspectives
    • Woolf AS, Hillman KA. Unilateral renal agenesis and the congenital solitary functioning kidney: developmental, genetic and clinical perspectives. BJU Int 2007; 99: 17-21
    • (2007) BJU Int , vol.99 , pp. 17-21
    • Woolf, A.S.1    Hillman, K.A.2
  • 64
    • 79952207913 scopus 로고    scopus 로고
    • The anomalies associated with congenital solitary functioning kidney in children
    • Akl K. The anomalies associated with congenital solitary functioning kidney in children. Saudi J Kidney Dis Transplant 2011; 22: 67-71
    • (2011) Saudi J Kidney Dis Transplant , vol.22 , pp. 67-71
    • Akl, K.1
  • 65
    • 2542620650 scopus 로고    scopus 로고
    • SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
    • Ruf RG, Xu PX, Silvius D et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci USA 2004; 101: 8090-8095
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 8090-8095
    • Ruf, R.G.1    Xu, P.X.2    Silvius, D.3
  • 66
    • 34147143953 scopus 로고    scopus 로고
    • Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome
    • Hoskins BE, Cramer CH, Silvius D et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 2007; 80: 800-804
    • (2007) Am J Hum Genet , vol.80 , pp. 800-804
    • Hoskins, B.E.1    Cramer, C.H.2    Silvius, D.3
  • 67
    • 0031880009 scopus 로고    scopus 로고
    • Renal failure and deafness: Bronchio-oto renal syndrome
    • Misra M, Nolph KD. Renal failure and deafness: bronchio-oto renal syndrome. Am J Kidney Dis 1998; 32: 334-337
    • (1998) Am J Kidney Dis , vol.32 , pp. 334-337
    • Misra, M.1    Nolph, K.D.2
  • 68
    • 0035891830 scopus 로고    scopus 로고
    • Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome
    • Buller C, Xu X, Marquis V et al. Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. Hum Mol Genet 2001; 10: 2775-2781
    • (2001) Hum Mol Genet , vol.10 , pp. 2775-2781
    • Buller, C.1    Xu, X.2    Marquis, V.3
  • 69
    • 0028966947 scopus 로고
    • Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies, and vesicoureteral reflux
    • Sanyanusin P, Schimmenti LA, McNoe LA et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies, and vesicoureteral reflux. Nat Genet 1995; 9: 358-364
    • (1995) Nat Genet , vol.9 , pp. 358-364
    • Sanyanusin, P.1    Schimmenti, L.A.2    McNoe, L.A.3
  • 70
    • 0031691918 scopus 로고    scopus 로고
    • The prevalence of PAX2 mutations in patients with isolated colobomas or colo-bomas associated with urogenital anomalies
    • Cunliffe HE, McNoe LA, Ward TA et al. The prevalence of PAX2 mutations in patients with isolated colobomas or colo-bomas associated with urogenital anomalies. J Med Genet 1998; 35: 806-812
    • (1998) J Med Genet , vol.35 , pp. 806-812
    • Cunliffe, H.E.1    McNoe, L.A.2    Ward, T.A.3
  • 71
    • 0030914459 scopus 로고    scopus 로고
    • Mutations in the human Jagged 1 gene are responsible for Alagille syndrome
    • Oda T, Elkahloun AG, Pike BL et al. Mutations in the human Jagged 1 gene are responsible for Alagille syndrome. Nat Genet 1997; 16: 235-242
    • (1997) Nat Genet , vol.16 , pp. 235-242
    • Oda, T.1    Elkahloun, A.G.2    Pike, B.L.3
  • 72
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
    • Li L, Krantz ID, Deng Y et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997; 16: 243-251
    • (1997) Nat Genet , vol.16 , pp. 243-251
    • Li, L.1    Krantz, I.D.2    Deng, Y.3
  • 73
  • 74
    • 33745232796 scopus 로고    scopus 로고
    • NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
    • McDaniell R, Warthen DM, Sanchez-Lara Pa et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 2006; 79: 169-173
    • (2006) Am J Hum Genet , vol.79 , pp. 169-173
    • McDaniell, R.1    Warthen, D.M.2    Pa, S.3
  • 75
    • 84875698990 scopus 로고    scopus 로고
    • Baraitser-Winter syndrome: An additional Arab patient
    • Maha MAH, Makia JM, Sawsan JA. Baraitser-Winter syndrome: an additional Arab patient. Egypt J Med Hum Genet 2010; 11: 187-191
    • (2010) Egypt J Med Hum Genet , vol.11 , pp. 187-191
    • Mah, M.1    Makia, J.M.2    Sawsan, J.A.3
  • 76
    • 0035919202 scopus 로고    scopus 로고
    • Kallmann syndrome towards molecular patho-genesis
    • Hardelin JP. Kallmann syndrome towards molecular patho-genesis. Mol Cell Endocrinol 2001; 179: 75-81
    • (2001) Mol Cell Endocrinol , vol.179 , pp. 75-81
    • Hardelin, J.P.1
  • 77
    • 77649225132 scopus 로고    scopus 로고
    • Molecular and phe-notypic aspects of CHD7 mutation in CHARGE syndrome
    • Zentner GE, Layman WS, Martin DM et al. Molecular and phe-notypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet 2010; 152: 674-686
    • (2010) Am J Med Genet , vol.152 , pp. 674-686
    • Zentner, G.E.1    Layman, W.S.2    Martin, D.M.3
  • 78
    • 33847284574 scopus 로고    scopus 로고
    • Renal-coloboma syndrome: A single nucleotide deletion in the PAX2 gene at exon 8 is associated with a highly variable phenotype
    • Taranta A, Palma A, De Luca V et al. Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at exon 8 is associated with a highly variable phenotype. Clin Nephrol 2007; 67: 1
    • (2007) Clin Nephrol , vol.67 , pp. 1
    • Taranta, A.1    Palma, A.2    De Luca, V.3
  • 79
    • 33644801598 scopus 로고    scopus 로고
    • Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2
    • Fletcher J, Hu M, Berman Y et al. Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. J Am Soc Nephrol 2005; 16: 2754
    • (2005) J Am Soc Nephrol , vol.16 , pp. 2754
    • Fletcher, J.1    Hu, M.2    Berman, Y.3
  • 80
    • 33947237697 scopus 로고    scopus 로고
    • Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys
    • Decramer S, Parant O, Beaufils S et al. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 2007; 18: 923
    • (2007) J Am Soc Nephrol , vol.18 , pp. 923
    • Decramer, S.1    Parant, O.2    Beaufils, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.