-
1
-
-
85027235668
-
-
Online Mendelian Inheritance In Man. Muscular Dystrophydystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; MDDGA1. Online Mendelian Inheritance In Man Website, Accessed August 10, 2013
-
Online Mendelian Inheritance in Man. Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type a, 1; MDDGA1. Online Mendelian Inheritance in Man website. http:// omim.org/entry/236670. Accessed August 10, 2013
-
-
-
-
2
-
-
0038185363
-
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
-
DOI 10.1086/342975
-
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002; 71:1033-1043 (Pubitemid 35305223)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.5
, pp. 1033-1043
-
-
De Bernabe, D.B.-V.1
Currier, S.2
Steinbrecher, A.3
Celli, J.4
Van Beusekom, E.5
Van Der Zwaag, B.6
Kayserili, H.7
Merlini, L.8
Chitayat, D.9
Dobyns, W.B.10
Cormand, B.11
Lehesjoki, A.-E.12
Cruces, J.13
Voit, T.14
Walsh, C.A.15
Van Bokhoven, H.16
Brunner, H.G.17
-
3
-
-
27544478262
-
First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome
-
DOI 10.1002/uog.1965
-
Blin G, Rabbé A, Ansquer Y, Meghdiche S, Floch-Tudal C, Mandelbrot L. First-trimester ultrasound diagnosis in a recurrent case of Walker- Warburg syndrome. Ultrasound Obstet Gynecol 2005; 26:297-299 (Pubitemid 41545831)
-
(2005)
Ultrasound in Obstetrics and Gynecology
, vol.26
, Issue.3
, pp. 297-299
-
-
Blin, G.1
Rabbe, A.2
Ansquer, Y.3
Meghdiche, S.4
Floch-Tudal, C.5
Mandelbrot, L.6
-
4
-
-
0027741349
-
Ocular findings in Walker-Warburg syndrome
-
DOI 10.1007/BF00306196
-
Gerding H, Gullotta F, Kuchelmeister K, Busse H. Ocular findings in Walker-Warburg syndrome. Childs Nerv Syst 1993; 9:418-420 (Pubitemid 24015559)
-
(1993)
Child's Nervous System
, vol.9
, Issue.7
, pp. 418-420
-
-
Gerding, H.1
Gullotta, F.2
Kuchelmeister, K.3
Busse, H.4
-
5
-
-
76249094096
-
Walker Warburg syndrome with persistent hyperplastic vitreous detected by prenatal ultrasonography
-
Yazicioglu HF, Ocak Z. Walker Warburg syndrome with persistent hyperplastic vitreous detected by prenatal ultrasonography. Ultrasound Obstet Gynecol 2010; 35:247-249
-
(2010)
Ultrasound Obstet Gynecol
, vol.35
, pp. 247-249
-
-
Yazicioglu, H.F.1
Ocak, Z.2
-
6
-
-
0023620215
-
Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome
-
DOI 10.1002/ajmg.1320280309
-
Farrell SA, Toi A, Leadman ML, Davidson RG, Caco C. Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome. Am J Med Genet 1987; 28:619-624 (Pubitemid 17164746)
-
(1987)
American Journal of Medical Genetics
, vol.28
, Issue.3
, pp. 619-624
-
-
Farrell, S.A.1
Toi, A.2
Leadman, M.L.3
Davidson, R.G.4
Caco, C.5
-
7
-
-
0028940205
-
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome
-
Chitayat D, Toi A, Babul R, et al. Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. Am J Med Genet 1995; 56:351- 358
-
(1995)
Am J Med Genet
, vol.56
, pp. 351-358
-
-
Chitayat, D.1
Toi, A.2
Babul, R.3
-
8
-
-
84863535516
-
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound
-
Brasseur-Daudruy M, Vivier PH, Ickowicz V, Eurin D, Verspyck E. Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. Pediatr Radiol 2012; 42:488-490
-
(2012)
Pediatr Radiol
, vol.42
, pp. 488-490
-
-
Brasseur-Daudruy, M.1
Vivier, P.H.2
Ickowicz, V.3
Eurin, D.4
Verspyck, E.5
-
9
-
-
0027282572
-
WalkerUarburg syndrome: Prenatal ultrasound findings
-
Vohra N, Ghidini A, Alvarez M, Lockwood C. Walker-Warburg syndrome: prenatal ultrasound findings. Prenat Diagn 1993; 13:575-579 (Pubitemid 23231948)
-
(1993)
Prenatal Diagnosis
, vol.13
, Issue.7
, pp. 575-579
-
-
Vohra, N.1
Ghidini, A.2
Alvarez, M.3
Lockwood, C.4
-
11
-
-
0030884066
-
Second-trimester diagnosis of fetal cataract in a fetus with Walker-Warburg syndrome
-
Beinder EJ, Pfeiffer RA, Bornemann A, Wenkel H. Second-trimester diagnosis of fetal cataract in a fetus with Walker-Warburg syndrome. Fetal Diagn Ther 1997; 12:197-199 (Pubitemid 27420423)
-
(1997)
Fetal Diagnosis and Therapy
, vol.12
, Issue.4
, pp. 197-199
-
-
Beinder, E.J.1
Pfeiffer, R.A.2
Bornemann, A.3
Wenkel, H.4
-
12
-
-
61849154113
-
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome
-
Strigini F, Valleriani A, Cecchi M, et al. Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. Ultrasound Obstet Gynecol 2009; 33:363-368
-
(2009)
Ultrasound Obstet Gynecol
, vol.33
, pp. 363-368
-
-
Strigini, F.1
Valleriani, A.2
Cecchi, M.3
-
13
-
-
84907114849
-
In-utero diagnosis of Norrie disease by ultrasonography
-
Redmond RM, Vaughan JI, Jay M, Jay B. In-utero diagnosis of Norrie disease by ultrasonography. Ophthalmic Paediatr Genet 1993; 14:1-3. (Pubitemid 23143866)
-
(1993)
Ophthalmic Paediatrics and Genetics
, vol.14
, Issue.1
, pp. 1-3
-
-
Redmond, R.M.1
Vaughan, J.I.2
Jay, M.3
Jay, B.4
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