-
1
-
-
0022889651
-
Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?
-
Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P: Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome? Am J Med Genet 1987; 26: 481-491.
-
(1987)
Am J Med Genet
, vol.26
, pp. 481-491
-
-
Ritscher, D.1
Schinzel, A.2
Boltshauser, E.3
Briner, J.4
Arbenz, U.5
Sigg, P.6
-
2
-
-
0035882375
-
Ritcher-Schinzel cranio-cerebello-cardiac(3C) syndrome: Report of four new cases and review
-
Leonardi ML, Shashidbar Pai G, Wilkes B, Lebel RR: Ritcher-Schinzel cranio-cerebello-cardiac(3C) syndrome: Report of four new cases and review. Am J Med Genet 2001; 102: 237-242.
-
(2001)
Am J Med Genet
, vol.102
, pp. 237-242
-
-
Leonardi, M.L.1
Shashidbar Pai, G.2
Wilkes, B.3
Lebel, R.R.4
-
3
-
-
0024521568
-
3C syndrome: Third occurrence of cranio-cerebello-cardiacdysplasia (Ritcher-Schinzel syndrome)
-
Verloes A, Dresse MF, Jovanovic M, Dodinval P, Geubelle F: 3C syndrome: third occurrence of cranio-cerebello-cardiacdysplasia (Ritcher-Schinzel syndrome). Clin Genet 1989; 35: 205-208.
-
(1989)
Clin Genet
, vol.35
, pp. 205-208
-
-
Verloes, A.1
Dresse, M.F.2
Jovanovic, M.3
Dodinval, P.4
Geubelle, F.5
-
4
-
-
0024329244
-
3C syndrome: Another case
-
Mims LRA, Say B: 3C syndrome: another case. Clin Genet 1989; 36: 465.
-
(1989)
Clin Genet
, vol.36
, pp. 465
-
-
Mims, L.R.C.1
Say, B.2
-
5
-
-
0026583129
-
An additional patient with the 3C syndrome
-
Gurrieri F, Neri G: An additional patient with the 3C syndrome. Clin Genet 1992; 41: 263-265.
-
(1992)
Clin Genet
, vol.41
, pp. 263-265
-
-
Gurrieri, F.1
Neri, G.2
-
6
-
-
0028009787
-
Another case of Ritcher-Schinzel-syndrome: Cranio-cerebello-cardiacdysplasia (3C-syndrome) with associated bilateral colobomata
-
Wörle H, Lewin MAG, Holder M, Bastanier CK, Köhler B: Another case of Ritcher-Schinzel-syndrome: Cranio-cerebello-cardiacdysplasia (3C-syndrome) with associated bilateral colobomata. Eur J Pediatr 1994; 153: 140-142.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 140-142
-
-
Wörle, H.1
Lewin, M.A.G.2
Holder, M.3
Bastanier, C.K.4
Köhler, B.5
-
7
-
-
0028023704
-
3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome
-
Hoo JJ, Kreiter M, Halverson N, Perszyk A: 3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome. Am J Med Genet 1994; 52: 66-69.
-
(1994)
Am J Med Genet
, vol.52
, pp. 66-69
-
-
Hoo, J.J.1
Kreiter, M.2
Halverson, N.3
Perszyk, A.4
-
8
-
-
0004381425
-
Dandy-Walker malformation, cardiac defect and deafness: A variation of the cranio-cerebello-cardiac dysplasia (Ritcher-Schinzel syndrome)
-
Quintana A, Alonso A, Lorenzo O, Belanger A: Dandy-Walker malformation, cardiac defect and deafness: A variation of the cranio-cerebello-cardiac dysplasia (Ritcher-Schinzel syndrome). Genet Couns 1994; 5: 144A.
-
(1994)
Genet Couns
, vol.5
-
-
Quintana, A.1
Alonso, A.2
Lorenzo, O.3
Belanger, A.4
-
11
-
-
0029655165
-
Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome
-
Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapiccola B: Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome. Am J Med Genet 1995; 58: 97-98.
-
(1995)
Am J Med Genet
, vol.58
, pp. 97-98
-
-
Digilio, M.C.1
Marino, B.2
Giannotti, A.3
Mingarelli, R.4
Dallapiccola, B.5
-
12
-
-
0004376332
-
Unusual features in a neonate with 3C (cranio-cerebello-cardiac) syndrome
-
Marazzo DP, Mulvihill JJ: Unusual features in a neonate with 3C (cranio-cerebello-cardiac) syndrome. Am J Hum Genet (suppl) 1995; 57: 96.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
, pp. 96
-
-
Marazzo, D.P.1
Mulvihill, J.J.2
-
13
-
-
0029907485
-
'Shifted' threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes. 3C (Ritscher-Schinzel) syndrome as an example
-
Lurie I, Ferencz C: 'Shifted' threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes. 3C (Ritscher-Schinzel) syndrome as an example. Am J Med Genet 1996; 66: 72-74.
-
(1996)
Am J Med Genet
, vol.66
, pp. 72-74
-
-
Lurie, I.1
Ferencz, C.2
-
14
-
-
0031028433
-
Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype
-
Kosaki K, Curry CJ, Roeder E, Jones KL: Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Am J Med Genet 1997; 68: 421-427.
-
(1997)
Am J Med Genet
, vol.68
, pp. 421-427
-
-
Kosaki, K.1
Curry, C.J.2
Roeder, E.3
Jones, K.L.4
-
16
-
-
20144373058
-
Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
-
DeScipio C, Schneider L, Young TL et al: Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet 2005; 134A: 3-11.
-
(2005)
Am J Med Genet
, vol.134 A
, pp. 3-11
-
-
DeScipio, C.1
Schneider, L.2
Young, T.L.3
-
17
-
-
25844529402
-
Re: 3C (Ritscher-Schinzel) syndrome: The importance of ruling out a terminal 6p deletion
-
Innes AM: Re: 3C (Ritscher-Tchinzel) syndrome: the importance of ruling out a terminal 6p deletion. Clin Dysmorphol 2005; 14: 209-210.
-
(2005)
Clin Dysmorphol
, vol.14
, pp. 209-210
-
-
Innes, A.M.1
-
18
-
-
0014234289
-
A simple method of estimating the segregation ratio under complete ascertainment
-
Li CC, Mantel N: A simple method of estimating the segregation ratio under complete ascertainment. Am Hum Genet 1968; 20: 61-81.
-
(1968)
Am Hum Genet
, vol.20
, pp. 61-81
-
-
Li, C.C.1
Mantel, N.2
-
19
-
-
0018417902
-
The 'singles' method for segregation analysis under incomplete ascertainment
-
Davie AM: The 'singles' method for segregation analysis under incomplete ascertainment. Ann Hum Genet 1979; 42: 507-512.
-
(1979)
Ann Hum Genet
, vol.42
, pp. 507-512
-
-
Davie, A.M.1
-
21
-
-
0033527767
-
The 3C syndrome: Evolution of the phenotype and growth hormone deficiency
-
Wheeler PG,ESadeghi-Nejad A, Elias ER: The 3C syndrome: evolution of the phenotype and growth hormone deficiency. Am J Med Genet 1999; 87: 61-64.
-
(1999)
Am J Med Genet
, vol.87
, pp. 61-64
-
-
Wheeler, P.G.1
Sadeghi-Nejad, A.2
Elias, E.R.3
-
22
-
-
0041820103
-
(3C) syndrome: Follow-up study of the original patient
-
Zankl A, Fungor T, Schinzel A: (3C) syndrome: follow-up study of the original patient. Am J Med Genet. 2003; 118A: 55-59.
-
(2003)
Am J Med Genet.
, vol.118 A
, pp. 55-59
-
-
Zankl, A.1
Gungor, T.2
Schinzel, A.3
-
23
-
-
33747749325
-
A twin with 3C syndrome
-
Hordijk R, Fock A, Visser G, Niezen K, Van Essen T: A twin with 3C syndrome. Genet Couns 2001; 12: 184.
-
(2001)
Genet Couns
, vol.12
, pp. 184
-
-
Hordijk, R.1
Fock, A.2
Visser, G.3
Niezen, K.4
Van Essen, T.5
-
24
-
-
33747776644
-
3C (cranio-cerebello-cardiac) syndrome (Ritscher-Schinzel syndrome): A new case?
-
Garavelli L, Donadio A, Muzzini S et al: 3C (cranio-cerebello-cardiac) syndrome (Ritscher-Schinzel syndrome): A new case? Genet Couns 2001; 12: 185.
-
(2001)
Genet Couns
, vol.12
, pp. 185
-
-
Garavelli, L.1
Donadio, A.2
Muzzini, S.3
-
26
-
-
16444365831
-
3C syndrome with cryptorchidism and posterior embryotoxon
-
Papadopoulou E, Sifakis S, Rogalidou M, Makrigiannakis A, Giannakopoulou C, Petersen MB: 3C syndrome with cryptorchidism and posterior embryotoxon. Clin Dysmorphol 2005; 14: 97-100.
-
(2005)
Clin Dysmorphol
, vol.14
, pp. 97-100
-
-
Papadopoulou, E.1
Sifakis, S.2
Rogalidou, M.3
Makrigiannakis, A.4
Giannakopoulou, C.5
Petersen, M.B.6
-
27
-
-
0021875929
-
A study of institutionalized mentally retarded patients in Manitoba: Over-representation by Canadian Indian children
-
Evans JA, Hunter AG, Thompson DR, Ramsay S: A study of institutionalized mentally retarded patients in Manitoba: Over-representation by Canadian Indian children. J Ment Defic Res 1985; 29: 153-164.
-
(1985)
J Ment Defic Res
, vol.29
, pp. 153-164
-
-
Evans, J.A.1
Hunter, A.G.2
Thompson, D.R.3
Ramsay, S.4
-
28
-
-
0344677188
-
The prevalence and demographic characteristics of consanguineous marriages in Pakistan
-
Houssain R, Bittles AH: The prevalence and demographic characteristics of consanguineous marriages in Pakistan. J Biosoc Sci 1998; 30: 261-275.
-
(1998)
J Biosoc Sci
, vol.30
, pp. 261-275
-
-
Houssain, R.1
Bittles, A.H.2
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