-
1
-
-
0021616775
-
Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome)
-
Aleksic S, Budzilovich G, Greco MA, McCarthy MA, Reuben J, Margolis S (1984): Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome). Child Brain 11:285-297.
-
(1984)
Child Brain
, vol.11
, pp. 285-297
-
-
Aleksic, S.1
Budzilovich, G.2
Greco, M.A.3
McCarthy, M.A.4
Reuben, J.5
Margolis, S.6
-
3
-
-
0029068708
-
Detection of a subtle rearrangement of chromosome 22 using molecular techniques
-
Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K (1995): Detection of a subtle rearrangement of chromosome 22 using molecular techniques. Am J Med Genet 58:389-394.
-
(1995)
Am J Med Genet
, vol.58
, pp. 389-394
-
-
Biesecker, L.G.1
Rosenberg, M.2
Dziadzio, L.3
Ledbetter, D.H.4
Ning, Y.5
Sarneso, C.6
Rosenbaum, K.7
-
4
-
-
0023627005
-
Goldenhar complex in discordant monozygotic twins: A case report and review of the literature
-
Boles DJ, Bodurtha J, Nance WE (1987): Goldenhar complex in discordant monozygotic twins: A case report and review of the literature. Am J Med Genet 28:103-109.
-
(1987)
Am J Med Genet
, vol.28
, pp. 103-109
-
-
Boles, D.J.1
Bodurtha, J.2
Nance, W.E.3
-
6
-
-
0001618348
-
Chromosome abnormalities associated with facioauriculovertebral spectrum
-
Greenberg F, Herman GE, Stal S, Gruber H, Ledbetter DH (1988): Chromosome abnormalities associated with facioauriculovertebral spectrum. Am J Med Genet [Suppl] 4:170.
-
(1988)
Am J Med Genet [Suppl]
, vol.4
, pp. 170
-
-
Greenberg, F.1
Herman, G.E.2
Stal, S.3
Gruber, H.4
Ledbetter, D.H.5
-
7
-
-
0023987239
-
Multiple congenital anomalies/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)
-
Herman GE, Greenberg F, Ledbetter DH (1988): Multiple congenital anomalies/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). Am J Med Genet 29:909-915.
-
(1988)
Am J Med Genet
, vol.29
, pp. 909-915
-
-
Herman, G.E.1
Greenberg, F.2
Ledbetter, D.H.3
-
8
-
-
0025218051
-
The neuocristopathies: Reinterpretation based upon the mechanism of abnormal morphogenesis
-
Jones MC (1990): The neuocristopathies: Reinterpretation based upon the mechanism of abnormal morphogenesis. Cleft Palate J 27:136-140.
-
(1990)
Cleft Palate J
, vol.27
, pp. 136-140
-
-
Jones, M.C.1
-
9
-
-
0027446997
-
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence
-
Kobrynski L, Chitayat D, Zahed L, McGregor D, Rochon L, Brownstein S, Vekemans M, Albert DL (1993): Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet 46:68-71.
-
(1993)
Am J Med Genet
, vol.46
, pp. 68-71
-
-
Kobrynski, L.1
Chitayat, D.2
Zahed, L.3
McGregor, D.4
Rochon, L.5
Brownstein, S.6
Vekemans, M.7
Albert, D.L.8
-
10
-
-
0028958734
-
De novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization
-
Lindsay EA, Shaffer LG, Carrozo R, Greenberg F, Baldini A (1995): De novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization. Am J Med Genet 56:296-299.
-
(1995)
Am J Med Genet
, vol.56
, pp. 296-299
-
-
Lindsay, E.A.1
Shaffer, L.G.2
Carrozo, R.3
Greenberg, F.4
Baldini, A.5
-
11
-
-
0020326322
-
Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia
-
Pierpont ME, Moller JH, Gorlin RJ, Edwards JE (1982): Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 2:297-302.
-
(1982)
Pediatr Cardiol
, vol.2
, pp. 297-302
-
-
Pierpont, M.E.1
Moller, J.H.2
Gorlin, R.J.3
Edwards, J.E.4
-
12
-
-
0020631024
-
Hemifacial microsomia and variants: Pedigree data
-
Rollnick BR, Kaye CI (1983): Hemifacial microsomia and variants: Pedigree data. Am J Med Genet 15:233-235.
-
(1983)
Am J Med Genet
, vol.15
, pp. 233-235
-
-
Rollnick, B.R.1
Kaye, C.I.2
-
13
-
-
0022876636
-
Oculoauriculovertebral dysplasia and variants. Phenotypic characteristics of 294 patients
-
Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO (1987): Oculoauriculovertebral dysplasia and variants. Phenotypic characteristics of 294 patients. Am J Med Genet 26:361-375.
-
(1987)
Am J Med Genet
, vol.26
, pp. 361-375
-
-
Rollnick, B.R.1
Kaye, C.I.2
Nagatoshi, K.3
Hauck, W.4
Martin, A.O.5
-
14
-
-
0015068858
-
Congenital Absence of the Radius with Hemifacial Microsomia, VSD, and Crossed Renal Ectopia
-
Sugiura Y (1971): Congenital Absence of the Radius With Hemifacial Microsomia, VSD, and Crossed Renal Ectopia. BD:OAS VII(7):109-115.
-
(1971)
BD:OAS
, vol.7
, Issue.7
, pp. 109-115
-
-
Sugiura, Y.1
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