-
6
-
-
0018729452
-
Phenotypic variation in two patients with a ring chromosome 22
-
Funderburk SJ, Sparkes RS, Klisak I. Phenotypic variation in two patients with a ring chromosome 22. Clin Genet 1979: 16: 305-310.
-
(1979)
Clin. Genet.
, vol.16
, pp. 305-310
-
-
Funderburk, S.J.1
Sparkes, R.S.2
Klisak, I.3
-
7
-
-
0027250547
-
Multiple meningiomas in a patient with constitutional ring chromosome 22
-
Petrella R, Levine S, Wilmot P, Ashar KD, Casamassima AC, Shapiro LR. Multiple meningiomas in a patient with constitutional ring chromosome 22. Am J Med Genet 1993: 47: 184-186.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 184-186
-
-
Petrella, R.1
Levine, S.2
Wilmot, P.3
Ashar, K.D.4
Casamassima, A.C.5
Shapiro, L.R.6
-
9
-
-
0035826540
-
Velo-cardio-facial syndrome: Implications of microdeletion of 22q11 for schizophrenia and mood disorders
-
Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R. Velo-cardio-facial syndrome: Implications of microdeletion of 22q11 for schizophrenia and mood disorders. Am J Med Genet 2001: 105: 354-362.
-
(2001)
Am. J. Med. Genet.
, vol.105
, pp. 354-362
-
-
Arnold, P.D.1
Siegel-Bartelt, J.2
Cytrynbaum, C.3
Teshima, I.4
Schachar, R.5
-
10
-
-
0007482654
-
2 interstitial deletions among childhood onset schizophrenia and 'multidimensionally impaired.'
-
Yan W, Jacobsen Krasnewich LK, Guan DM et al. 2 interstitial deletions among childhood onset schizophrenia and 'multidimensionally impaired.' Am J Med Genet 1998: 81: 41-43.
-
(1998)
Am. J. Med. Genet.
, vol.81
, pp. 41-43
-
-
Yan, W.1
Jacobsen Krasnewich, L.K.2
Guan, D.M.3
-
11
-
-
0023153582
-
Does 'ring syndrome' exist? Analysis of 207 case reports on patients with a ring autosome
-
Kosztolanyi G. Does 'ring syndrome' exist? Analysis of 207 case reports on patients with a ring autosome. Hum Genet 1987: 75: 174-179.
-
(1987)
Hum. Genet.
, vol.75
, pp. 174-179
-
-
Kosztolanyi, G.1
-
12
-
-
0030003708
-
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
-
Rogan PK, Seip JR, Driscoll DJ et al. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 1996: 62: 10-15.
-
(1996)
Am. J. Med. Genet.
, vol.62
, pp. 10-15
-
-
Rogan, P.K.1
Seip, J.R.2
Driscoll, D.J.3
-
13
-
-
0023240603
-
Chromosome studies in IgA-deficient patients
-
Taalman RD, Weemales CR, Hustinx TJ, Scheres JC, Clement JE, Stoelinga GA. Chromosome studies in IgA-deficient patients. Clin Genet 1987: 32: 81-87.
-
(1987)
Clin. Genet.
, vol.32
, pp. 81-87
-
-
Taalman, R.D.1
Weemales, C.R.2
Hustinx, T.J.3
Scheres, J.C.4
Clement, J.E.5
Stoelinga, G.A.6
-
14
-
-
0023942709
-
Determination of the break-points and the parental origin of a ring 22 chromosome: An analysis by high-resolution banding technique, quinacrine and silver stainings
-
Naritomi K, Hirayama K. Determination of the break-points and the parental origin of a ring 22 chromosome: an analysis by high-resolution banding technique, quinacrine and silver stainings. Jpn J Human Genet 1988: 33: 67-73.
-
(1988)
Jpn. J. Human Genet.
, vol.33
, pp. 67-73
-
-
Naritomi, K.1
Hirayama, K.2
-
15
-
-
0024076838
-
Ring chromosome 22, 46, XX, r (22)(p 11.2→q13.3) presenting with leukemoid reaction
-
Watanabe H, Yamanaka T. Ring chromosome 22, 46, XX, r (22)(p 11.2→q13.3) presenting with leukemoid reaction. Clin Genetics 1998: 34: 206-208.
-
(1998)
Clin. Genetics
, vol.34
, pp. 206-208
-
-
Watanabe, H.1
Yamanaka, T.2
-
16
-
-
0025185539
-
Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome
-
Christodoulon J, Loughnan P. Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome. Am J Med Genet 1990: 37: 422-424.
-
(1990)
Am. J. Med. Genet.
, vol.37
, pp. 422-424
-
-
Christodoulon, J.1
Loughnan, P.2
-
18
-
-
0026806689
-
Ring chromosome 22 and neurofibromatosis
-
Tommerup N, Warburg M, Gieselmann V, Hansen BR, Koch J, Petersen GB. Ring chromosome 22 and neurofibromatosis. Clin Genet 1992: 42: 171-177.
-
(1992)
Clin. Genet.
, vol.42
, pp. 171-177
-
-
Tommerup, N.1
Warburg, M.2
Gieselmann, V.3
Hansen, B.R.4
Koch, J.5
Petersen, G.B.6
-
19
-
-
0029126647
-
Metachromatic leukodystrophy (MLD) in a patient with a constitutional ring chromosome 22
-
Coulter-Mackie MB, Rip J, Ludman MD, Beis J, Cole DE. Metachromatic leukodystrophy (MLD) in a patient with a constitutional ring chromosome 22. J Med Genet 1995: 32: 787-791.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 787-791
-
-
Coulter-Mackie, M.B.1
Rip, J.2
Ludman, M.D.3
Beis, J.4
Cole, D.E.5
-
20
-
-
0030469498
-
Williams-Beuren syndrome: Phenotypic variability and deletions of chromosomes 7, 11 and 22 in a series of 52 patients
-
Joyce CA, Zorich B, Pike SJ, Barber JK, Dennis NR. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11 and 22 in a series of 52 patients. J Med Genet 1996: 33: 986-992.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 986-992
-
-
Joyce, C.A.1
Zorich, B.2
Pike, S.J.3
Barber, J.K.4
Dennis, N.R.5
-
21
-
-
0030759460
-
Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2
-
Kehrer-Sawatzki H, Udart M, Krone W et al. Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. Hum Genet 1997: 100: 67-74.
-
(1997)
Hum. Genet.
, vol.100
, pp. 67-74
-
-
Kehrer-Sawatzki, H.1
Udart, M.2
Krone, W.3
-
22
-
-
0030790702
-
Four year old girl with ring chromosome 22 and brain tumor
-
Rubio A. Four year old girl with ring chromosome 22 and brain tumor. Brain Path 1997: 7: 1027-1028.
-
(1997)
Brain Path.
, vol.7
, pp. 1027-1028
-
-
Rubio, A.1
-
23
-
-
7144253119
-
Brief Report: A case of chromosome 22 alteration associated with autistic syndrome
-
Assumpcao FB. Brief Report: a case of chromosome 22 alteration associated with autistic syndrome. J Autism Dev Dis 1998: 28: 253-256.
-
(1998)
J. Autism Dev. Dis.
, vol.28
, pp. 253-256
-
-
Assumpcao, F.B.1
-
24
-
-
0033110077
-
Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy
-
Gibbons B, Tan Sy, Tam Py. Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy. Singapore Med J 1999: 40: 273-275.
-
(1999)
Singapore Med. J.
, vol.40
, pp. 273-275
-
-
Gibbons, B.1
Tan, S.2
Tam, P.3
-
25
-
-
0036549551
-
Molecular characterization of a ring chromosome 22 in a patient with severe language delay: A contribution to the refinement of the subtelomeric 22q deletion syndrome
-
De Mas PD, Chassaing N, Chaix Y et al. Molecular characterization of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. J Med Genet 2002: 39: e17.
-
(2002)
J. Med. Genet.
, vol.39
, pp. e17
-
-
De Mas, P.D.1
Chassaing, N.2
Chaix, Y.3
|