-
1
-
-
0030859236
-
Rhombencephalosynapsis associated with hand anomalies
-
Aydingoz U, Cila A, Aktan G (1997). Rhombencephalosynapsis associated with hand anomalies. Br J Radiol 70:764-766.
-
(1997)
Br J Radiol
, vol.70
, pp. 764-766
-
-
Aydingoz, U.1
Cila, A.2
Aktan, G.3
-
2
-
-
2142825062
-
Cerebellum - Small brain but large confusion: A review of selected cerebellar malformations and disruptions
-
Boltshauser E (2004). Cerebellum - small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet 126A:376-385.
-
(2004)
Am J Med Genet
, vol.126
, pp. 376-385
-
-
Boltshauser, E.1
-
3
-
-
0034706399
-
Gomez-Lopez-Hernandez syndrome: Expansion of the phenotype
-
Brocks D, Irons M, Sadeghi-Najad A, McCaulay R, Wheeler P (2000). Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. Am J Med Genet 94:405-408.
-
(2000)
Am J Med Genet
, vol.94
, pp. 405-408
-
-
Brocks, D.1
Irons, M.2
Sadeghi-Najad, A.3
McCaulay, R.4
Wheeler, P.5
-
4
-
-
0028877974
-
Uncommon posterior cranial fossa anomalies: MRI with clinical correlation
-
Demaerel P, Kendall BE, Wilms G, Halpin SFS, Casaer P, Baert AL (1995). Uncommon posterior cranial fossa anomalies: MRI with clinical correlation. Neuroradiology 37:72-76.
-
(1995)
Neuroradiology
, vol.37
, pp. 72-76
-
-
Demaerel, P.1
Kendall, B.E.2
Wilms, G.3
Halpin, S.F.S.4
Casaer, P.5
Baert, A.L.6
-
5
-
-
0018563139
-
Cerebellotrigeminal and focal dermal dysplasia: A newly recognised neurocutaneous syndrome
-
Gomez MR (1979). Cerebellotrigeminal and focal dermal dysplasia: a newly recognised neurocutaneous syndrome. Brain Dev 4:253-256.
-
(1979)
Brain Dev
, vol.4
, pp. 253-256
-
-
Gomez, M.R.1
-
6
-
-
0010459664
-
Rhombencephalosynapsis: A rare brain malformation
-
Leiz S, Rudisser K, Hohnecker A, Baumeister FAM, Hopner F, Egger J (2000). Rhombencephalosynapsis: a rare brain malformation. Neuropediatrics 31 A33.
-
(2000)
Neuropediatrics
, vol.31
-
-
Leiz, S.1
Rudisser, K.2
Hohnecker, A.3
Baumeister, F.A.M.4
Hopner, F.5
Egger, J.6
-
7
-
-
0027443145
-
Antenatal ultrasound diagnosis of cerebellar vermian agenesis in a case of rhombencephalosynapsis
-
Litherland J, Ludlam A, Thomas N (1993). Antenatal ultrasound diagnosis of cerebellar vermian agenesis in a case of rhombencephalosynapsis. J Clin Ultrasound 21:636-638.
-
(1993)
J Clin Ultrasound
, vol.21
, pp. 636-638
-
-
Litherland, J.1
Ludlam, A.2
Thomas, N.3
-
8
-
-
0019961770
-
Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases
-
López-Hernández A (1982). Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. Neuropediatrics 13:99-102.
-
(1982)
Neuropediatrics
, vol.13
, pp. 99-102
-
-
López-Hernández, A.1
-
9
-
-
0020066915
-
Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case
-
Michaud J, Mizrahi EM, Urich H (1982). Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. Acta Neuropathol (Berl) 56:161-166.
-
(1982)
Acta Neuropathol (Berl)
, vol.56
, pp. 161-166
-
-
Michaud, J.1
Mizrahi, E.M.2
Urich, H.3
-
10
-
-
0034012252
-
Neuroradiological and clinical findings in rhombencephalosynapsis
-
Montull C, Mercader JM, Peri J, Martinez Ferri M, Bonaventura I (2000). Neuroradiological and clinical findings in rhombencephalosynapsis. Neuroradiology 42:272-274.
-
(2000)
Neuroradiology
, vol.42
, pp. 272-274
-
-
Montull, C.1
Mercader, J.M.2
Peri, J.3
Martinez Ferri, M.4
Bonaventura, I.5
-
11
-
-
0030964531
-
Cerebellotrigeminal-dermal dysplasia (Gomez-López-Hernández syndrome): Description of three new cases and review
-
Muñoz RMV, Santos AC, Graziadio C, Pina-Neto JM (1997). Cerebellotrigeminal-dermal dysplasia (Gomez-López-Hernández syndrome): description of three new cases and review. Am J Med Genet 72:34-39.
-
(1997)
Am J Med Genet
, vol.72
, pp. 34-39
-
-
Muñoz, R.M.V.1
Santos, A.C.2
Graziadio, C.3
Pina-Neto, J.M.4
-
12
-
-
0026758105
-
Cutaneous findings in craniofacial malformation syndromes
-
Orlow SJ (1992). Cutaneous findings in craniofacial malformation syndromes. Arch Dermatol 128:1379-1386.
-
(1992)
Arch Dermatol
, vol.128
, pp. 1379-1386
-
-
Orlow, S.J.1
-
14
-
-
2642533879
-
Congenital triangular alopecia in association with congenital heart disease and teeth abnormalities, multiple lentigines and café au lait patches
-
Park SW, Choi YD, Wang HY (2004). Congenital triangular alopecia in association with congenital heart disease and teeth abnormalities, multiple lentigines and café au lait patches. Int J Dermatol 43:366-367.
-
(2004)
Int J Dermatol
, vol.43
, pp. 366-367
-
-
Park, S.W.1
Choi, Y.D.2
Wang, H.Y.3
-
15
-
-
0031894359
-
Radiological malformations of the ear in Pendred syndrome
-
Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, et al. (1998). Radiological malformations of the ear in Pendred syndrome. Clin Radiol 53:268-273.
-
(1998)
Clin Radiol
, vol.53
, pp. 268-273
-
-
Phelps, P.D.1
Coffey, R.A.2
Trembath, R.C.3
Luxon, L.M.4
Grossman, A.B.5
Britton, K.E.6
-
16
-
-
0030815949
-
Pendred syndrome: 100 years of underascertainment?
-
Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, et al. (1997). Pendred syndrome: 100 years of underascertainment? Q J Med 90:443-447.
-
(1997)
Q J Med
, vol.90
, pp. 443-447
-
-
Reardon, W.1
Coffey, R.2
Phelps, P.D.3
Luxon, L.M.4
Stephens, D.5
Kendall-Taylor, P.6
-
17
-
-
0030807461
-
Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: A case report
-
Romanengo M, Tortori-Donati P, Di Rocco M (1997). Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report. Clin Genet 52:184-186.
-
(1997)
Clin Genet
, vol.52
, pp. 184-186
-
-
Romanengo, M.1
Tortori-Donati, P.2
Di Rocco, M.3
-
18
-
-
0026318511
-
Isolated rhombencephalosynapsis diagnosed by magnetic resonance imaging
-
Savolaine ER, Fodell RJ, Peter YP (1991). Isolated rhombencephalosynapsis diagnosed by magnetic resonance imaging. Clin imaging 15:125-129.
-
(1991)
Clin Imaging
, vol.15
, pp. 125-129
-
-
Savolaine, E.R.1
Fodell, R.J.2
Peter, Y.P.3
-
19
-
-
18544387322
-
Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children
-
Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WCG, Boltshauser E, et al. (2002). Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics 33:209-214.
-
(2002)
Neuropediatrics
, vol.33
, pp. 209-214
-
-
Toelle, S.P.1
Yalcinkaya, C.2
Kocer, N.3
Deonna, T.4
Overweg-Plandsoen, W.C.G.5
Boltshauser, E.6
-
20
-
-
0028141841
-
Clinical and histologic findings in temporal triangular alopecia
-
Trakimas C, Sperling LC, Skelton HG, Smith KJ, Buker JL, (1994). Clinical and histologic findings in temporal triangular alopecia. J Am Acad Dermatol 31:205-209.
-
(1994)
J Am Acad Dermatol
, vol.31
, pp. 205-209
-
-
Trakimas, C.1
Sperling, L.C.2
Skelton, H.G.3
Smith, K.J.4
Buker, J.L.5
-
21
-
-
0026079629
-
MR imaging of rhombencephalosynapsis: Report of three cases and review of literature
-
Truwit CL, Barkovich AJ, Shanahan R, Maroldo TV (1991). MR imaging of rhombencephalosynapsis: report of three cases and review of literature. Am J Neuroradiol 12:957-965.
-
(1991)
Am J Neuroradiol
, vol.12
, pp. 957-965
-
-
Truwit, C.L.1
Barkovich, A.J.2
Shanahan, R.3
Maroldo, T.V.4
-
22
-
-
0017973478
-
The large vestibular aqueduct syndrome
-
Valvassori GE, Clemis JD (1978). The large vestibular aqueduct syndrome. Laryngoscope 88:723-728.
-
(1978)
Laryngoscope
, vol.88
, pp. 723-728
-
-
Valvassori, G.E.1
Clemis, J.D.2
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