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Volumn 49, Issue 4, 2010, Pages 487-494

Microvillus Inclusion Disease: Prenatal Ultrasound Findings, Molecular Diagnosis and Genetic Counseling of Congenital Diarrhea

Author keywords

Congenital diarrhea; Microvillus inclusion disease; MYO5B; Prenatal diagnosis; Ultrasound

Indexed keywords

THREONINE;

EID: 78650757561     PISSN: 10284559     EISSN: 10284559     Source Type: Journal    
DOI: 10.1016/S1028-4559(10)60102-7     Document Type: Article
Times cited : (21)

References (27)
  • 1
    • 77950204761 scopus 로고    scopus 로고
    • Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management
    • Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr 2010, 50:360-366.
    • (2010) J Pediatr Gastroenterol Nutr , vol.50 , pp. 360-366
    • Berni Canani, R.1    Terrin, G.2    Cardillo, G.3    Tomaiuolo, R.4    Castaldo, G.5
  • 2
    • 0018178824 scopus 로고
    • Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villous atrophy
    • Davidson GP, Cuiz E, Hamilton JR, Gall DG Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villous atrophy. Gastroenterology 1978, 75:783-790.
    • (1978) Gastroenterology , vol.75 , pp. 783-790
    • Davidson, G.P.1    Cuiz, E.2    Hamilton, J.R.3    Gall, D.G.4
  • 3
    • 0026695199 scopus 로고
    • Familial microvillous atrophy: a clinicopathological survey of 23 cases
    • Phillips AD, Schmitz J Familial microvillous atrophy: a clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr 1992, 14:380-396.
    • (1992) J Pediatr Gastroenterol Nutr , vol.14 , pp. 380-396
    • Phillips, A.D.1    Schmitz, J.2
  • 5
    • 77952245485 scopus 로고    scopus 로고
    • Ultrastructural aspects of enterocyte defects in infancy and childhood
    • Iancu TC, Manov I Ultrastructural aspects of enterocyte defects in infancy and childhood. Ultrastruct Pathol 2010, 34:117-125.
    • (2010) Ultrastruct Pathol , vol.34 , pp. 117-125
    • Iancu, T.C.1    Manov, I.2
  • 6
    • 52949112224 scopus 로고    scopus 로고
    • MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
    • Müller T, Hess MW, Schiefermeier N, et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 2008, 40:1163-1165.
    • (2008) Nat Genet , vol.40 , pp. 1163-1165
    • Müller, T.1    Hess, M.W.2    Schiefermeier, N.3
  • 7
    • 0036500526 scopus 로고    scopus 로고
    • Human myosin-Vc is a novel class V myosin expressed in epithelial cells
    • Rodriguez OC, Cheney RE Human myosin-Vc is a novel class V myosin expressed in epithelial cells. J Cell Sci 2002, 115:991-1004.
    • (2002) J Cell Sci , vol.115 , pp. 991-1004
    • Rodriguez, O.C.1    Cheney, R.E.2
  • 9
    • 77951857203 scopus 로고    scopus 로고
    • Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model
    • Ruemmele FM, Müller T, Schiefermeier N, et al. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Hum Mutat 2010, 31:544-551.
    • (2010) Hum Mutat , vol.31 , pp. 544-551
    • Ruemmele, F.M.1    Müller, T.2    Schiefermeier, N.3
  • 13
    • 0033853449 scopus 로고    scopus 로고
    • Treatment of microvillus inclusion disease by intestinal transplantation
    • Bunn SK, Beath SV, McKeirnan PJ, et al. Treatment of microvillus inclusion disease by intestinal transplantation. J Pediatr Gastroenterol Nutr 2000, 31:176-180.
    • (2000) J Pediatr Gastroenterol Nutr , vol.31 , pp. 176-180
    • Bunn, S.K.1    Beath, S.V.2    McKeirnan, P.J.3
  • 14
    • 11144353816 scopus 로고    scopus 로고
    • New perspectives for children with microvillous inclusion disease: early small bowel transplantation
    • Ruemmele FM, Jan D, Lacaille F, et al. New perspectives for children with microvillous inclusion disease: early small bowel transplantation. Transplantation 2004, 77:1024-1028.
    • (2004) Transplantation , vol.77 , pp. 1024-1028
    • Ruemmele, F.M.1    Jan, D.2    Lacaille, F.3
  • 15
    • 0035076639 scopus 로고    scopus 로고
    • Congenital microvillous inclusion disease presenting as antenatal bowel obstruction
    • Kennea N, Norbury R, Anderson G, Tekay A Congenital microvillous inclusion disease presenting as antenatal bowel obstruction. Ultrasound Obstet Gynecol 2001, 17:172-174.
    • (2001) Ultrasound Obstet Gynecol , vol.17 , pp. 172-174
    • Kennea, N.1    Norbury, R.2    Anderson, G.3    Tekay, A.4
  • 16
    • 0021687797 scopus 로고
    • Prenatal ultrasonic findings in congenital chloride diarrhoea
    • Kirkinen P, Jouppila P Prenatal ultrasonic findings in congenital chloride diarrhoea. Prenat Diagn 1984, 4:457-461.
    • (1984) Prenat Diagn , vol.4 , pp. 457-461
    • Kirkinen, P.1    Jouppila, P.2
  • 17
    • 0026319541 scopus 로고
    • False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhoea
    • Langer JC, Winthrop AL, Burrows RF, Issenman RM, Caco C False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhoea. J Ped Surg 1991, 26:1282-1284.
    • (1991) J Ped Surg , vol.26 , pp. 1282-1284
    • Langer, J.C.1    Winthrop, A.L.2    Burrows, R.F.3    Issenman, R.M.4    Caco, C.5
  • 18
    • 77951828889 scopus 로고    scopus 로고
    • Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea
    • Colombani M, Ferry M, Toga C, et al. Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea. Ultrasound Obstet Gynecol 2010, 35:560-565.
    • (2010) Ultrasound Obstet Gynecol , vol.35 , pp. 560-565
    • Colombani, M.1    Ferry, M.2    Toga, C.3
  • 19
    • 0022516653 scopus 로고
    • Congenital chloridorrhea: antenatal ultrasonographic appearance
    • Groli C, Zucca S, Cesaretti A Congenital chloridorrhea: antenatal ultrasonographic appearance. J Clin Ultrasound 1986, 14:293-295.
    • (1986) J Clin Ultrasound , vol.14 , pp. 293-295
    • Groli, C.1    Zucca, S.2    Cesaretti, A.3
  • 21
    • 0026490417 scopus 로고
    • Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature
    • Rose NC, Kaplan P, Scott S, Kousoulis A, Librizzi R Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature. Am J Perinatol 1992, 9:398-400.
    • (1992) Am J Perinatol , vol.9 , pp. 398-400
    • Rose, N.C.1    Kaplan, P.2    Scott, S.3    Kousoulis, A.4    Librizzi, R.5
  • 23
    • 0029864784 scopus 로고    scopus 로고
    • Congenital chloride diarrhoea: a prenatal differential diagnosis of small bowel atresia
    • Lundkvist K, Ewald U, Lindgren PG Congenital chloride diarrhoea: a prenatal differential diagnosis of small bowel atresia. Acta Paediatr 1996, 85:295-298.
    • (1996) Acta Paediatr , vol.85 , pp. 295-298
    • Lundkvist, K.1    Ewald, U.2    Lindgren, P.G.3
  • 24
    • 0029760263 scopus 로고    scopus 로고
    • Antenatal ultrasound diagnosis of dilated fetal bowel due to congenital chloride diarrhoea
    • Rowlands S, Kasby C, Poon C, Murray H Antenatal ultrasound diagnosis of dilated fetal bowel due to congenital chloride diarrhoea. Aust N Z J Obstet Gynaecol 1996, 36:366-368.
    • (1996) Aust N Z J Obstet Gynaecol , vol.36 , pp. 366-368
    • Rowlands, S.1    Kasby, C.2    Poon, C.3    Murray, H.4
  • 26
    • 0034791314 scopus 로고    scopus 로고
    • Congenital chloride diarrhea: antenatal ultrasonographic findings in siblings
    • Kim SH, Kim SH Congenital chloride diarrhea: antenatal ultrasonographic findings in siblings. J Ultrasound Med 2001, 20:1133-1136.
    • (2001) J Ultrasound Med , vol.20 , pp. 1133-1136
    • Kim, S.H.1    Kim, S.H.2
  • 27
    • 36749012896 scopus 로고    scopus 로고
    • Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea
    • Tsukimori K, Nakanami N, Wake N, Masumoto K, Taguchi T Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. J Ultrasound Med 2007, 26:1805-1807.
    • (2007) J Ultrasound Med , vol.26 , pp. 1805-1807
    • Tsukimori, K.1    Nakanami, N.2    Wake, N.3    Masumoto, K.4    Taguchi, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.