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Volumn 10, Issue 8, 2004, Pages

Screening for CDG type Ia in Joubert syndrome

Author keywords

CDG; Glycosylation; Joubert syndrome; Vermis hypoplasia

Indexed keywords

PHOSPHOMANNOMUTASE; TRANSFERRIN;

EID: 4444228792     PISSN: 12341010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (18)
  • 1
    • 0036842354 scopus 로고    scopus 로고
    • Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins
    • Enns GM, Steiner RD, Buist N et al: Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr, 2002; 141: 695-700
    • (2002) J Pediatr , vol.141 , pp. 695-700
    • Enns, G.M.1    Steiner, R.D.2    Buist, N.3
  • 2
    • 0036840817 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: A renew
    • Grunewald S, Matthijs G, Jaeken J: Congenital disorders of glycosylation: a renew. Pediatr Res, 2002; 52: 618-24
    • (2002) Pediatr Res , vol.52 , pp. 618-624
    • Grunewald, S.1    Matthijs, G.2    Jaeken, J.3
  • 3
    • 0023489694 scopus 로고
    • An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins
    • Jacken J, Eggermont E, Stibler H: An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins. Lancet, 1987; 2: 1398
    • (1987) Lancet , vol.2 , pp. 1398
    • Jacken, J.1    Eggermont, E.2    Stibler, H.3
  • 4
    • 0031019482 scopus 로고    scopus 로고
    • Carbohydrate deficient glycoprotein (CDG) syndrome type I
    • Jacken J, Matthijs G, Barone R, Carchon H: Carbohydrate deficient glycoprotein (CDG) syndrome type I. J Med Genet, 1997; 34: 73-76
    • (1997) J Med Genet , vol.34 , pp. 73-76
    • Jacken, J.1    Matthijs, G.2    Barone, R.3    Carchon, H.4
  • 5
    • 0017577011 scopus 로고
    • Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis
    • Boltshauser E, Isler W: Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropaediatrie, 1977; 8: 57-66
    • (1977) Neuropaediatrie , vol.8 , pp. 57-66
    • Boltshauser, E.1    Isler, W.2
  • 6
    • 0014572497 scopus 로고
    • Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
    • Joubert M, Eisenring JJ, Robb JP, Andermann F: Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 1969; 19: 813-25 (Reprinted in J Child Neurol, 1999; 14: 554-64)
    • (1969) Neurology , vol.19 , pp. 813-25
    • Joubert, M.1    Eisenring, J.J.2    Robb, J.P.3    Andermann, F.4
  • 7
    • 0033194674 scopus 로고    scopus 로고
    • Reprinted
    • Joubert M, Eisenring JJ, Robb JP, Andermann F: Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 1969; 19: 813-25 (Reprinted in J Child Neurol, 1999; 14: 554-64)
    • (1999) J Child Neurol , vol.14 , pp. 554-564
  • 8
    • 0042763544 scopus 로고    scopus 로고
    • Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
    • Keeler LC, Marsh SE, Leeflang EP et al: Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet, 2003; 73: 656-62
    • (2003) Am J Hum Genet , vol.73 , pp. 656-662
    • Keeler, L.C.1    Marsh, S.E.2    Leeflang, E.P.3
  • 9
    • 0037154038 scopus 로고    scopus 로고
    • Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1
    • Blair IP, Gibson RR, Bennett CL, Chance PF: Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet, 2002; 107: 190-96
    • (2002) Am J Med Genet , vol.107 , pp. 190-196
    • Blair, I.P.1    Gibson, R.R.2    Bennett, C.L.3    Chance, P.F.4
  • 10
    • 0033358738 scopus 로고    scopus 로고
    • Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
    • Saar K, Al-Gazali L, Sztriha et al: Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet, 1999; 65: 1666-71
    • (1999) Am J Hum Genet , vol.65 , pp. 1666-1671
    • Saar, K.1    Al-Gazali, L.2    Sztriha3
  • 12
    • 0027982575 scopus 로고
    • Joubert syndrome with congenital hepatic fibrosis: An entity in the spectrum of oculo-encephalo-hepato-renal disorders
    • Lewis SM, Roberts EA, Marcon MA et al: Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. Am J Med Genet, 1994; 52: 419-26
    • (1994) Am J Med Genet , vol.52 , pp. 419-426
    • Lewis, S.M.1    Roberts, E.A.2    Marcon, M.A.3
  • 13
    • 0027171824 scopus 로고
    • On Saraiva and Baraitser and Joubert syndrome: A review
    • Di Rocco M: On Saraiva and Baraitser and Joubert syndrome: a review. Am J Med Genet, 1993; 46: 732-33
    • (1993) Am J Med Genet , vol.46 , pp. 732-733
    • Di Rocco, M.1
  • 14
    • 0026682589 scopus 로고
    • The analysis of human serum transferrins with the PhastSystem: Quantitation of microheterogeneity
    • Van Eijk HG, van Noort WL: The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity. Electrophoresis, 1992; 13: 354-58
    • (1992) Electrophoresis , vol.13 , pp. 354-358
    • Van Eijk, H.G.1    Van Noort, W.L.2
  • 15
    • 0029585865 scopus 로고
    • Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
    • Van Schaftingen E, Jacken J: Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett, 1995; 377: 318-20
    • (1995) FEBS Lett , vol.377 , pp. 318-320
    • Van Schaftingen, E.1    Jacken, J.2
  • 16
    • 0032851825 scopus 로고    scopus 로고
    • Clinical features and revised diagnostic criteria in Joubert syndrome
    • Maria BL, Boltshauser E, Palmer SC, Tran TX: Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol, 1999; 14: 583-90
    • (1999) J Child Neurol , vol.14 , pp. 583-590
    • Maria, B.L.1    Boltshauser, E.2    Palmer, S.C.3    Tran, T.X.4
  • 17
    • 0033661463 scopus 로고    scopus 로고
    • Joubert syndrome: An affected female with bilateral colobomata
    • Dahlstrom JE, Cookman J, Jain S: Joubert syndrome: an affected female with bilateral colobomata. Pathol, 2000; 32: 283-85
    • (2000) Pathol , vol.32 , pp. 283-285
    • Dahlstrom, J.E.1    Cookman, J.2    Jain, S.3
  • 18
    • 0030664061 scopus 로고    scopus 로고
    • Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis
    • Silverstein DM, Zacharowicz L, Edelman M et al: Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. Pediatr Nephrol, 1997; 11: 746-49
    • (1997) Pediatr Nephrol , vol.11 , pp. 746-749
    • Silverstein, D.M.1    Zacharowicz, L.2    Edelman, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.