-
1
-
-
0025955358
-
Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome
-
Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L (1991): Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome. Am J Med Genet 41:246-250.
-
(1991)
Am J Med Genet
, vol.41
, pp. 246-250
-
-
Clementi, M.1
Tenconi, R.2
Turolla, L.3
Silvan, C.4
Bortotto, L.5
Artifoni, L.6
-
2
-
-
0028947785
-
Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting
-
Crispino B, Cardoso H, Mimbacas A, Méndez V (1995): Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting. Am J Med Genet 55:27-29.
-
(1995)
Am J Med Genet
, vol.55
, pp. 27-29
-
-
Crispino, B.1
Cardoso, H.2
Mimbacas, A.3
Méndez, V.4
-
3
-
-
0022618852
-
The spectrum of clinical features in CHARGE association
-
Davenport SLH, Hefner MA, Mitchell JA (1986): The spectrum of clinical features in CHARGE association. Clin Genet 29:298-310.
-
(1986)
Clin Genet
, vol.29
, pp. 298-310
-
-
Davenport, S.L.H.1
Hefner, M.A.2
Mitchell, J.A.3
-
4
-
-
0001869799
-
Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): Diagnosis of DiGeorge syndrome (DGS), velo-cardiofacial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations
-
Emanuel BS, Budarf ML, Sellinger B, Goldmuntz E, Driscoll DA (1992): Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge syndrome (DGS), velo-cardiofacial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations. Am J Hum Genet 51 (suppl): A3.
-
(1992)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
-
-
Emanuel, B.S.1
Budarf, M.L.2
Sellinger, B.3
Goldmuntz, E.4
Driscoll, D.A.5
-
5
-
-
0018348787
-
Choanal atresia and associated multiple anomalies
-
Hall BD (1979): Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398.
-
(1979)
J Pediatr
, vol.95
, pp. 395-398
-
-
Hall, B.D.1
-
7
-
-
0025968760
-
Balanced t(6;8)(6p8p;6q8q) and the CHARGE association
-
Hurst JA, Meinecke P, Baraitser M (1991): Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. J Med Genet 28:54-55.
-
(1991)
J Med Genet
, vol.28
, pp. 54-55
-
-
Hurst, J.A.1
Meinecke, P.2
Baraitser, M.3
-
9
-
-
0018614750
-
Interstitial deletion 3p associated with t(3p-, 18q+) translocation
-
Kogame K, Kudo H (1979): Interstitial deletion 3p associated with t(3p-, 18q+) translocation. Jpn J Human Genet 24:245-252.
-
(1979)
Jpn J Human Genet
, vol.24
, pp. 245-252
-
-
Kogame, K.1
Kudo, H.2
-
10
-
-
4243816034
-
Prenatal diagnosis of interstitial deletion of short arm of chromosome 3
-
Mitter NS, Bryke CR, Sunderji SG, Hallinan EJ, Gordon LP (1984): Prenatal diagnosis of interstitial deletion of short arm of chromosome 3. Am J Hum Genet 36:105A.
-
(1984)
Am J Hum Genet
, vol.36
-
-
Mitter, N.S.1
Bryke, C.R.2
Sunderji, S.G.3
Hallinan, E.J.4
Gordon, L.P.5
-
12
-
-
0021173101
-
Interstitial deletion of chromosome 3p: Report of a patient and delineation of a proximal 3p deletion syndrome
-
Neri G, Reynolds JF, Westphal J, Hinz J, Daniel A (1984): Interstitial deletion of chromosome 3p: Report of a patient and delineation of a proximal 3p deletion syndrome. Am J Med Genet 19:189-193.
-
(1984)
Am J Med Genet
, vol.19
, pp. 189-193
-
-
Neri, G.1
Reynolds, J.F.2
Westphal, J.3
Hinz, J.4
Daniel, A.5
-
13
-
-
0029014844
-
CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)
-
North KN, Wu BL, Cao BN, Whiteman DAH, Korf BR (1995): CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3). Am J Med Genet 57:610-614.
-
(1995)
Am J Med Genet
, vol.57
, pp. 610-614
-
-
North, K.N.1
Wu, B.L.2
Cao, B.N.3
Whiteman, D.A.H.4
Korf, B.R.5
-
15
-
-
0019425377
-
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
-
Pagon RA, Graham JM, Zonana J, Yong S-L (1981): Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 2:223-227.
-
(1981)
J Pediatr
, vol.2
, pp. 223-227
-
-
Pagon, R.A.1
Graham, J.M.2
Zonana, J.3
Yong, S.-L.4
-
16
-
-
0022515577
-
Brief clinical report: Interstitial deletion of the short arm of chromosome 3 (3p14)
-
Short MP, Shah KD, Djamdjian S, Dische MR, Gilbert F (1986): Brief clinical report: Interstitial deletion of the short arm of chromosome 3 (3p14). Am J Med Genet 24:649-652.
-
(1986)
Am J Med Genet
, vol.24
, pp. 649-652
-
-
Short, M.P.1
Shah, K.D.2
Djamdjian, S.3
Dische, M.R.4
Gilbert, F.5
-
17
-
-
4243320926
-
Congenital anomalies associated with partial deletion of the long arm of chromosome 4 [46,XY, del(4)(q31)]
-
1981
-
Shroff M, Israel J, Rosenthal F (1981): Congenital anomalies associated with partial deletion of the long arm of chromosome 4 [46,XY, del(4)(q31)]. Am J Hum Genet 1981;33:122A.
-
(1981)
Am J Hum Genet
, vol.33
-
-
Shroff, M.1
Israel, J.2
Rosenthal, F.3
-
18
-
-
0019834402
-
A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique
-
Sichong Z, Bui T-H, Castro I, Iselius L, Håkansson S, Lundmark K-M (1981): A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique. Hum Genet 59:178-181.
-
(1981)
Hum Genet
, vol.59
, pp. 178-181
-
-
Sichong, Z.1
Bui, T.-H.2
Castro, I.3
Iselius, L.4
Håkansson, S.5
Lundmark, K.-M.6
-
19
-
-
0018222668
-
Inherited partial trisomy 8q (22 → qter)
-
Townes PL, White MR (1978): Inherited partial trisomy 8q (22 → qter). Am J Dis Child 132:498-501.
-
(1978)
Am J Dis Child
, vol.132
, pp. 498-501
-
-
Townes, P.L.1
White, M.R.2
-
20
-
-
0018827479
-
Interstitial 3p deletion in a child due to paternal paracentric inserted inversion
-
Wyandt HE, Kasprzak R, Ennis J, Willson K, Koch V, Schnatterly P, Wilson W, Kelly TE (1980): Interstitial 3p deletion in a child due to paternal paracentric inserted inversion. Am J Hum Genet 32:731-735.
-
(1980)
Am J Hum Genet
, vol.32
, pp. 731-735
-
-
Wyandt, H.E.1
Kasprzak, R.2
Ennis, J.3
Willson, K.4
Koch, V.5
Schnatterly, P.6
Wilson, W.7
Kelly, T.E.8
|