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Volumn 70, Issue , 2011, Pages 66-74

Genetic disorders with both hearing loss and cardiovascular abnormalities

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; HAIR CELL; HEARING LOSS; HUMAN; INNER EAR; MIDDLE EAR; MUTATION; SYNDROME;

EID: 79952415883     PISSN: 00653071     EISSN: None     Source Type: Book Series    
DOI: 10.1159/000322474     Document Type: Article
Times cited : (5)

References (57)
  • 4
    • 77952328830 scopus 로고    scopus 로고
    • Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
    • Momma K: Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010;105:1617-1624.
    • (2010) Am. J. Cardiol. , vol.105 , pp. 1617-1624
    • Momma, K.1
  • 8
    • 13944273804 scopus 로고    scopus 로고
    • The etiology of Wolf-Hirschhorn syndrome
    • DOI 10.1016/j.tig.2005.01.008
    • Bergemann AD, Cole F, Hirschhorn K: The etiology of Wolf- Hirschhorn syndrome. Trends Genet 2005;21:188-195. (Pubitemid 40269858)
    • (2005) Trends in Genetics , vol.21 , Issue.3 , pp. 188-195
    • Bergemann, A.D.1    Cole, F.2    Hirschhorn, K.3
  • 9
    • 3843117833 scopus 로고    scopus 로고
    • Histopathological basis of hearing impairment in Wolf-Hirschhorn syndrome
    • DOI 10.1097/00005537-200408000-00021
    • Ulualp SO, Wright CG, Pawlowski KS, Roland PS: Histopathological basis of hearing impairment in Wolf- Hirschhorn syndrome. Laryngoscope 2004;114: 1426-1430. (Pubitemid 39045516)
    • (2004) Laryngoscope , vol.114 , Issue.8 , pp. 1426-1430
    • Ulualp, S.O.1    Wright, C.G.2    Pawlowski, K.S.3    Roland, P.S.4
  • 11
    • 55949113926 scopus 로고    scopus 로고
    • Update on the clinical features and natural history of wolf-hirschhorn 4p- syndrome: Experience with 87 patients and recommendations for routine health supervision
    • Battaglia A, Filippi T, Carey JC: Update on the clinical features and natural history of Wolf- Hirschhorn (4p- ) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet 2008;148C:246-251.
    • (2008) Am. J. Med. Genet. C Semin. Med. Genet. , vol.148 C , pp. 246-251
    • Battaglia, A.1    Filippi, T.2    Carey, J.C.3
  • 14
    • 44049103092 scopus 로고    scopus 로고
    • Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype
    • DOI 10.1111/j.1469-7610.2008.01887.x
    • Martens MA, Wilson SJ, Reutens DC: Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry 2008;49: 576-608. (Pubitemid 351713313)
    • (2008) Journal of Child Psychology and Psychiatry and Allied Disciplines , vol.49 , Issue.6 , pp. 576-608
    • Martens, M.A.1    Wilson, S.J.2    Reutens, D.C.3
  • 15
    • 77951542710 scopus 로고    scopus 로고
    • Auditory function hearing loss in children and adults with williams syndrome: Cochlear impairment in individuals with otherwise normal hearing
    • Marler JA, Sitcovsky JL, Mervis CB, Kistler DJ, Wightman FL: Auditory function, hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing. Am J Med Genet C 2010;154C:249-265.
    • (2010) Am. J. Med. Genet. C , vol.154 C , pp. 249-265
    • Marler, J.A.1    Sitcovsky, J.L.2    Mervis, C.B.3    Kistler, D.J.4    Wightman, F.L.5
  • 18
    • 74649087217 scopus 로고    scopus 로고
    • Cardiovascular abnormalities interventions and long-term outcomes in infantile williams syndrome
    • Collins RT, 2nd, Kaplan P, Somes GW, Rome JJ: Cardiovascular abnormalities, interventions, and long- term outcomes in infantile Williams syndrome. J Pediatr 2010;156:253- 258, e251.
    • (2010) J. Pediatr. , vol.156 , Issue.253-258
    • Collins, R.T.1    Kaplan II, P.2    Somes, G.W.3    Rome, J.J.4
  • 29
    • 31644450584 scopus 로고    scopus 로고
    • Sall1 mutation analysis in townes-brocks syndrome: Twelve novel mutations and expansion of the phenotype
    • Botzenhart EM, Green A, Ilyina H, et al: SALL1 mutation analysis in Townes- Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat 2005;26:282.
    • (2005) Hum. Mutat. , vol.26 , pp. 282
    • Botzenhart, E.M.1    Green, A.2    Ilyina, H.3
  • 32
    • 33846207546 scopus 로고    scopus 로고
    • Deregulated Ras signaling in developmental disorders: new tricks for an old dog
    • DOI 10.1016/j.gde.2006.12.004, PII S0959437X06002395, Genetic and Cellular mechanisms of oncogenesis
    • Schubbert S, Bollag G, Shannon K: Deregulated Ras signaling in developmental disorders: new tricks for an old dog. Curr Opin Genet Dev 2007;17: 15-22. (Pubitemid 46109294)
    • (2007) Current Opinion in Genetics and Development , vol.17 , Issue.1 , pp. 15-22
    • Schubbert, S.1    Bollag, G.2    Shannon, K.3
  • 34
    • 34249912624 scopus 로고    scopus 로고
    • The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene
    • DOI 10.1542/peds.2006-0211
    • Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cave H, Verloes A: The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 2007;119:e1325-e1331. (Pubitemid 46871252)
    • (2007) Pediatrics , vol.119 , Issue.6
    • Sznajer, Y.1    Keren, B.2    Baumann, C.3    Pereira, S.4    Alberti, C.5    Elion, J.6    Cave, H.7    Verloes, A.8
  • 35
    • 68649121646 scopus 로고    scopus 로고
    • The RAS opathies: Developmental syndromes of Ras/MAPK pathway dysregulation
    • Tidyman WE, Rauen KA: The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009;19:230-236.
    • (2009) Curr. Opin. Genet. Dev. , vol.19 , pp. 230-236
    • Tidyman, W.E.1    Rauen, K.A.2
  • 37
    • 0031936234 scopus 로고    scopus 로고
    • Mutation of the gene for IsK associated with both Jervell and Lange- Nielsen and Romano-Ward forms of long-QT syndrome
    • Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH: Mutation of the gene for IsK associated with both Jervell and Lange- Nielsen and Romano- Ward forms of Long- QT syndrome. Circulation 1998;97:142-146. (Pubitemid 28124670)
    • (1998) Circulation , vol.97 , Issue.2 , pp. 142-146
    • Duggal, P.1    Vesely, M.R.2    Wattanasirichaigoon, D.3    Villafane, J.4    Kaushik, V.5    Beggs, A.H.6
  • 41
    • 18444401014 scopus 로고    scopus 로고
    • Noonan syndrome and related disorders: Genetics and pathogenesis
    • DOI 10.1146/annurev.genom.6.080604.162305
    • Tartaglia M, Gelb BD: Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet 2005;6:45-68. (Pubitemid 41397075)
    • (2005) Annual Review of Genomics and Human Genetics , vol.6 , pp. 45-68
    • Tartaglia, M.1    Gelb, B.D.2
  • 43
    • 63749111765 scopus 로고    scopus 로고
    • Germline BRAF mutations in noonan leopard and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
    • Sarkozy A, Carta C, Moretti S, et al: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 2009;30:695-702.
    • (2009) Hum. Mutat. , vol.30 , pp. 695-702
    • Sarkozy, A.1    Carta, C.2    Moretti, S.3
  • 45
    • 34247482786 scopus 로고    scopus 로고
    • Alstrom syndrome: Progressive deafness and blindness
    • Welsh LW: Alstrom syndrome: progressive deafness and blindness. Ann Otol Rhinol Laryngol 2007;116:281-285. (Pubitemid 46656063)
    • (2007) Annals of Otology, Rhinology and Laryngology , vol.116 , Issue.4 , pp. 281-285
    • Welsh, L.W.1
  • 47
    • 0033385080 scopus 로고    scopus 로고
    • Phytanic acid storage disease (Refsum's disease): Clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management
    • DOI 10.1002/(SICI)1098-1101(1999)14:4<181::AID-JCA5>3.0.CO;2-Z
    • Weinstein R: Phytanic acid storage disease (Refsum disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apher 1999;14:181-184. (Pubitemid 30020638)
    • (1999) Journal of Clinical Apheresis , vol.14 , Issue.4 , pp. 181-184
    • Weinstein, R.1
  • 48
    • 34248402060 scopus 로고    scopus 로고
    • Mitochondrial deafness
    • DOI 10.1111/j.1399-0004.2007.00800.x
    • Kokotas H, Petersen MB, Willems PJ: Mitochondrial deafness. Clin Genet 2007;71:379-391. (Pubitemid 46730646)
    • (2007) Clinical Genetics , vol.71 , Issue.5 , pp. 379-391
    • Kokotas, H.1    Petersen, M.B.2    Willems, P.J.3
  • 49
    • 34250833548 scopus 로고    scopus 로고
    • Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation
    • DOI 10.1111/j.1600-0404.2007.00836.x
    • Finsterer J: Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Acta Neurol Scand 2007;116: 1-14. (Pubitemid 46976273)
    • (2007) Acta Neurologica Scandinavica , vol.116 , Issue.1 , pp. 1-14
    • Finsterer, J.1
  • 50
    • 0035032066 scopus 로고    scopus 로고
    • WFS1/wolframin mutations, wolfram syndrome, and associated diseases
    • DOI 10.1002/humu.1110
    • Khanim F, Kirk J, Latif F, Barrett TG: WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001;17:357-367. (Pubitemid 32381669)
    • (2001) Human Mutation , vol.17 , Issue.5 , pp. 357-367
    • Khanim, F.1    Kirk, J.2    Latif, F.3    Barrett, T.G.4
  • 51
    • 79952375268 scopus 로고    scopus 로고
    • Wolfram syndrome and WFS1 gene
    • Aug 12 Epub ahead of print
    • Rigoli L, Lombardo F, Di Bella C: Wolfram syndrome and WFS1 gene. Clin Genet 2010 Aug 12 [Epub ahead of print].
    • (2010) Clin. Genet.
    • Rigoli, L.1    Lombardo, F.2    Di Bella, C.3
  • 52
    • 43249107825 scopus 로고    scopus 로고
    • Cochlear implantation results in patients with Kearns-Sayre syndrome
    • DOI 10.1097/01.aud.0000310791.83193.62, PII 0000344620080600000014
    • Pijl S, Westerberg BD: Cochlear implantation results in patients with Kearns- Sayre syndrome. Ear Hear 2008;29:472-475. (Pubitemid 351652241)
    • (2008) Ear and Hearing , vol.29 , Issue.3 , pp. 472-475
    • Pijl, S.1    Westerberg, B.D.2
  • 53
    • 0036710194 scopus 로고    scopus 로고
    • Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions
    • DOI 10.1016/S0887-8994(02)00426-5, PII S0887899402004265
    • Marin- Garcia J, Goldenthal MJ, Flores- Sarnat L, Sarnat HB: Severe mitochondrial cytopathy with complete A- V block, PEO, and mtDNA deletions. Pediatr Neurol 2002;27:213-216. (Pubitemid 35254128)
    • (2002) Pediatric Neurology , vol.27 , Issue.3 , pp. 213-216
    • Marin-Garcia, J.1    Goldenthal, M.J.2    Flores-Sarnat, L.3    Sarnat, H.B.4
  • 54
    • 58149159261 scopus 로고    scopus 로고
    • Mitochondrial oxidative phosphorylation disorders presenting in neonates: Clinical manifestations and enzymatic and molecular diagnoses
    • Gibson K, Halliday JL, Kirby DM, Yaplito- Lee J, Thorburn DR, Boneh A: Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics 2008;122:1003-1008.
    • (2008) Pediatrics , vol.122 , pp. 1003-1008
    • Gibson, K.1    Halliday, J.L.2    Kirby, D.M.3    Yaplito-Lee, J.4    Thorburn, D.R.5    Boneh, A.6
  • 55
    • 72649098330 scopus 로고    scopus 로고
    • Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses
    • Wold SM, Derkay CS, Darrow DH, Proud V: Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2010;74:27-31.
    • (2010) Int. J. Pediatr. Otorhinolaryngol. , vol.74 , pp. 27-31
    • Wold, S.M.1    Derkay, C.S.2    Darrow, D.H.3    Proud, V.4
  • 56
    • 59449100963 scopus 로고    scopus 로고
    • Mucopolysaccharidosis I: Management and treatment guidelines
    • Muenzer J, Wraith JE, Clarke LA: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 2009;123:19-29.
    • (2009) Pediatrics , vol.123 , pp. 19-29
    • Muenzer, J.1    Wraith, J.E.2    Clarke, L.A.3
  • 57
    • 76449084511 scopus 로고    scopus 로고
    • Valvular heart disease in osteogenesis imperfecta: Presentation of a case and review of the literature
    • Bonita RE, Cohen IS, Berko BA: Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature. Echocardiography 2010; 27:69-73.
    • (2010) Echocardiography , vol.27 , pp. 69-73
    • Bonita, R.E.1    Cohen, I.S.2    Berko, B.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.