-
1
-
-
0024335891
-
Duplication of distal 22q
-
ABELIOVICH D., MAOR E., BASHAN N., CARMI R.: Duplication of distal 22q. Am. J. Med. Genet., 1989, 32, 346-349.
-
(1989)
Am. J. Med. Genet.
, vol.32
, pp. 346-349
-
-
Abeliovich, D.1
Maor, E.2
Bashan, N.3
Carmi, R.4
-
2
-
-
0019948829
-
Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation
-
BENDEL R.P., BALDINGER S., MILLARD C., ARTHUR D.C.: Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation. J. Med. Genet., 1982, 19, 313.
-
(1982)
J. Med. Genet.
, vol.19
, pp. 313
-
-
Bendel, R.P.1
Baldinger, S.2
Millard, C.3
Arthur, D.C.4
-
3
-
-
0035079005
-
Phenotypic variability of Cat-Eye syndrome
-
BERENDS M.J., TAN-SINDHUNATA G., LEEGTE B., VAN ESSEN A.J.: Phenotypic variability of Cat-Eye syndrome. Genet. Couns., 2001, 12, 23-34.
-
(2001)
Genet. Couns.
, vol.12
, pp. 23-34
-
-
Berends, M.J.1
Tan-Sindhunata, G.2
Leegte, B.3
Van Essen, A.J.4
-
4
-
-
0019517251
-
Trisomy 22q12 leads to qter: «Aneusomie de recombinaison» of a pericentric inversion
-
CANTU J.M., HERNANDEZ A., VACA G., PLASCENCIA L., MARTINEZ-BASALO C., IBARRA B., RIVERA H.: Trisomy 22q12 leads to qter: «aneusomie de recombinaison» of a pericentric inversion. Ann. Genet., 1981, 24, 37-40.
-
(1981)
Ann. Genet.
, vol.24
, pp. 37-40
-
-
Cantu, J.M.1
Hernandez, A.2
Vaca, G.3
Plascencia, L.4
Martinez-Basalo, C.5
Ibarra, B.6
Rivera, H.7
-
5
-
-
0018932911
-
The 11q:22q translocation: A European collaborative analysis of 43 cases
-
FRACCARO M., LINDSTEN J., FORD C.E., ISELIUS L.: The 11q:22q translocation: a European collaborative analysis of 43 cases. Hum. Genet., 1980, 56, 21-51.
-
(1980)
Hum. Genet.
, vol.56
, pp. 21-51
-
-
Fraccaro, M.1
Lindsten, J.2
Ford, C.E.3
Iselius, L.4
-
6
-
-
0020594336
-
Duplication of the segment q12.2 leads to qter of chromosome 22 due to paternal inversion 22(p13q12.2)
-
FUJIMOTO A., WILSON M.G., TOWNER J.W.: Duplication of the segment q12.2 leads to qter of chromosome 22 due to paternal inversion 22(p13q12.2). Hum. Genet., 1983, 63, 82-84.
-
(1983)
Hum. Genet.
, vol.63
, pp. 82-84
-
-
Fujimoto, A.1
Wilson, M.G.2
Towner, J.W.3
-
8
-
-
0023132496
-
Human chromosome 22
-
KAPLAN J.C., AURIAS A., JULIER C., PRIEUR M., SZAJNERT M.F.: Human chromosome 22. J. Med. Genet., 1987, 24, 65-78.
-
(1987)
J. Med. Genet.
, vol.24
, pp. 65-78
-
-
Kaplan, J.C.1
Aurias, A.2
Julier, C.3
Prieur, M.4
Szajnert, M.F.5
-
9
-
-
0017355469
-
Familial translocation with partial trisomy of 13 and 22: Evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy
-
KIM H.J., HSU L.Y., GOLDSMITH L.C., STRAUSS L., HIRSCHHORN K.: Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy. J. Med. Genet., 1977, 14, 114-119.
-
(1977)
J. Med. Genet.
, vol.14
, pp. 114-119
-
-
Kim, H.J.1
Hsu, L.Y.2
Goldsmith, L.C.3
Strauss, L.4
Hirschhorn, K.5
-
10
-
-
0028912759
-
Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome
-
KNOLL J.H., ASAMOAH A., PLETCHER B.A., WAGSTAFF J.: Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. Am. J. Med. Genet., 1995, 55, 221-224.
-
(1995)
Am. J. Med. Genet.
, vol.55
, pp. 221-224
-
-
Knoll, J.H.1
Asamoah, A.2
Pletcher, B.A.3
Wagstaff, J.4
-
11
-
-
0027446997
-
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence
-
KOBRYNSKI L., CHITAYAT D., ZAHED L., MCGREGOR D., ROCHON L., BROWNSTEIN S., VEKEMANS M., ALBERT D.L.: Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am. J. Med. Genet., 1993, 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
-
12
-
-
0016742257
-
Trisomy 22. Two new cases and delineation of the phenotype
-
PENCHASZADEH V.B., COCO R.: Trisomy 22. Two new cases and delineation of the phenotype. J. Med. Genet., 1975, 12, 193-199.
-
(1975)
J. Med. Genet.
, vol.12
, pp. 193-199
-
-
Penchaszadeh, V.B.1
Coco, R.2
-
13
-
-
0028965152
-
Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion
-
PRASHER V.P., ROBERTS E., NORMAN A., BUTLER A.C., KRISHNAN V.H., MCMULLAN D.J.: Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion. J. Med. Genet., 1995, 32, 306-308.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 306-308
-
-
Prasher, V.P.1
Roberts, E.2
Norman, A.3
Butler, A.C.4
Krishnan, V.H.5
Mcmullan, D.J.6
-
14
-
-
0023870759
-
The 22q distal trisomy syndrome in a recombinant child
-
RIVERA H., GARCIA-ESQUIVEL L., ROMO M.G., PEREZ-GARCIA G., MARTINEZ Y MARTINEZ R.: The 22q distal trisomy syndrome in a recombinant child. Ann. Genet., 1988, 31, 47-49.
-
(1988)
Ann. Genet.
, vol.31
, pp. 47-49
-
-
Rivera, H.1
Garcia-Esquivel, L.2
Romo, M.G.3
Perez-Garcia, G.4
Martinez Y Martinez, R.5
-
15
-
-
0024788694
-
22q distal duplication syndrome
-
RIVERA H.: 22q distal duplication syndrome. Am. J. Med. Genet., 1989, 34, 616.
-
(1989)
Am. J. Med. Genet.
, vol.34
, pp. 616
-
-
Rivera, H.1
-
16
-
-
0019484902
-
Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6:22)(q27:q13)
-
SCHINZEL A.: Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6:22)(q27:q13). Hum. Genet., 1981, 56, 263-268.
-
(1981)
Hum. Genet.
, vol.56
, pp. 263-268
-
-
Schinzel, A.1
-
17
-
-
0025818595
-
Partial trisomy 22q12-qter in prenatal diagnosis
-
TOLKENDORF E., MEHNER G., PRAGER B.: Partial trisomy 22q12-qter in prenatal diagnosis. Prenat. Diagn., 1991, 11, 339-342.
-
(1991)
Prenat. Diagn.
, vol.11
, pp. 339-342
-
-
Tolkendorf, E.1
Mehner, G.2
Prager, B.3
-
18
-
-
0023191344
-
Trisomy 22 in a newborn with multiple malformations
-
VOICULESCU I., BACK E., DUNCAN A.M., SCHWAIBOLD H., SCHEMPP W.: Trisomy 22 in a newborn with multiple malformations. Hum. Genet., 1987, 76, 298-301.
-
(1987)
Hum. Genet.
, vol.76
, pp. 298-301
-
-
Voiculescu, I.1
Back, E.2
Duncan, A.M.3
Schwaibold, H.4
Schempp, W.5
-
19
-
-
0031796157
-
A female patient with partial duplication 22(q13→qter)
-
WIECZOREK D., HOLTVOGT J., THONIG S., GILLESSEN-KAESBACH G.: A female patient with partial duplication 22(q13→qter). Clin. Dysmorphol., 1998, 7, 289-294.
-
(1998)
Clin. Dysmorphol.
, vol.7
, pp. 289-294
-
-
Wieczorek, D.1
Holtvogt, J.2
Thonig, S.3
Gillessen-Kaesbach, G.4
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