Indexed keywords
CCBE1 GENE;
DISEASE SEVERITY;
DYSPLASIA;
FETUS HYDROPS;
GENE;
GENE MUTATION;
GENERALIZED LYMPHATIC DYSPLASIA;
GENETIC ASSOCIATION;
HOMOZYGOSITY;
HUMAN;
HYPOPROTEINEMIA;
IMMUNOGLOBULIN DEFICIENCY;
INTESTINE LYMPHANGIECTASIA;
LETTER;
LYMPHATIC SYSTEM DISEASE;
LYMPHEDEMA;
MALABSORPTION;
PHENOTYPE;
PRIORITY JOURNAL;
RECESSIVE INHERITANCE;
SWELLING;
CALCIUM-BINDING PROTEINS;
CHILD;
CHILD, PRESCHOOL;
CRANIOFACIAL ABNORMALITIES;
DIAGNOSIS, DIFFERENTIAL;
FEMALE;
FETUS;
GENETIC PREDISPOSITION TO DISEASE;
GENITAL DISEASES, MALE;
HUMANS;
HYDROPS FETALIS;
INFANT;
INFANT, NEWBORN;
LYMPHANGIECTASIS, INTESTINAL;
LYMPHATIC ABNORMALITIES;
LYMPHEDEMA;
MALE;
MUTATION;
TUMOR SUPPRESSOR PROTEINS;
1
0022508402
Primary lymphatic dysplasia in children: chylothorax, chylous ascites, and generalized lymphatic dysplasia.
Smeltzer DM, Stickler GB, Fleming RE. Primary lymphatic dysplasia in children: chylothorax, chylous ascites, and generalized lymphatic dysplasia. Eur J Pediatr 1986: 145: 286-292.
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Eur J Pediatr , vol.145
, pp. 286-292
Smeltzer, D.M.1
Stickler, G.B.2
Fleming, R.E.3
2
76249099579
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
Connell F, Kalidas K, Ostergaard P et al. Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet 2010: 127: 231-241.
(2010)
Hum Genet , vol.127
, pp. 231-241
Connell, F.1
Kalidas, K.2
Ostergaard, P.3
3
0024792730
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
Hennekam RCM, Geerdink RA, Hamel BCJ et al. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 1989: 34: 593-600.
(1989)
Am J Med Genet , vol.34
, pp. 593-600
Hennekam, R.C.M.1
Geerdink, R.A.2
Hamel, B.C.J.3
4
70649091987
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Alders M, Hogan BM, Gjini E et al. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet 2009: 41: 1272-1274.
(2009)
Nat Genet , vol.41
, pp. 1272-1274
Alders, M.1
Hogan, B.M.2
Gjini, E.3
5
63449128207
Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting.
Hogan BM, Bos FL, Bussmann J et al. Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting. Nat Genet 2009: 41: 396-398.
(2009)
Nat Genet , vol.41
, pp. 396-398
Hogan, B.M.1
Bos, F.L.2
Bussmann, J.3
6
84855914463
Oxford desk reference clinical genetics. Oxford: Oxford University Press
Firth H, Hirst J. Oxford desk reference clinical genetics. Oxford: Oxford University Press, 2005.
(2005)
Firth, H.1
Hirst, J.2
7
33745055804
Severity of non-immune hydrops fetalis at birth continues to predict survival despite advances in perinatal care.
Simpson JH, McDevitt H, Young D, Cameron AD. Severity of non-immune hydrops fetalis at birth continues to predict survival despite advances in perinatal care. Fetal Diagn Ther 2006: 21: 380-382.
(2006)
Fetal Diagn Ther , vol.21
, pp. 380-382
Simpson, J.H.1
McDevitt, H.2
Young, D.3
Cameron, A.D.4
8
34447135419
Hydrops fetalis: a retrospective review of cases reported to a large national database and identification of risk factors associated with death.
Abrams ME, Meredith KS, Kinnard P, Clark RH. Hydrops fetalis: a retrospective review of cases reported to a large national database and identification of risk factors associated with death. Paediatrics 2007: 120: 84-89.
(2007)
Paediatrics , vol.120
, pp. 84-89
Abrams, M.E.1
Meredith, K.S.2
Kinnard, P.3
Clark, R.H.4
9
66849099873
Etiology of nonimmune hydrops fetalis: a systematic review.
Bellini C, Hennekam RC, Fulcheri E et al. Etiology of nonimmune hydrops fetalis: a systematic review. Am J Med Genet A 2009: 149A: 844-851.
(2009)
Am J Med Genet A , vol.149 A
, pp. 844-851
Bellini, C.1
Hennekam, R.C.2
Fulcheri, E.3
