-
1
-
-
0021844618
-
Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43)
-
Beemer F.A., Klep-de Pater J.M., Sepers G.J., and Janssen B. Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43). Clin. Genet. 27 (1985) 515-519
-
(1985)
Clin. Genet.
, vol.27
, pp. 515-519
-
-
Beemer, F.A.1
Klep-de Pater, J.M.2
Sepers, G.J.3
Janssen, B.4
-
3
-
-
0019155466
-
Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter)
-
De Pablo C.E., Garcia Sagredo J.M., Ferro M.T., Ferrando P., and San Roman C. Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter). J. Med. Genet. 17 (1980) 483-486
-
(1980)
J. Med. Genet.
, vol.17
, pp. 483-486
-
-
De Pablo, C.E.1
Garcia Sagredo, J.M.2
Ferro, M.T.3
Ferrando, P.4
San Roman, C.5
-
4
-
-
0035083965
-
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
-
De Vries B.B., Knight S.J., Homfray T., Smithson S.F., Flint J., and Winter R.M. Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?. J. Med. Genet. 38 (2001) 175-178
-
(2001)
J. Med. Genet.
, vol.38
, pp. 175-178
-
-
De Vries, B.B.1
Knight, S.J.2
Homfray, T.3
Smithson, S.F.4
Flint, J.5
Winter, R.M.6
-
5
-
-
0021964486
-
Intercalary de novo deletion of chromosome 1: del(1) (q24 to q32)]
-
Faugeras C., and Barthe D. Intercalary de novo deletion of chromosome 1: del(1) (q24 to q32)]. J. Genet. Hum. 33 (1985) 51-56
-
(1985)
J. Genet. Hum.
, vol.33
, pp. 51-56
-
-
Faugeras, C.1
Barthe, D.2
-
6
-
-
0025915826
-
Molecular characterization of a patient with del(1)(q23-q25)
-
Franco B., Lai L.W., Patterson D., Ledbetter D.H., Trask B.J., Van den Engh G., Iannaccone S., Frances S., Patel P.I., and Lupski J.R. Molecular characterization of a patient with del(1)(q23-q25). Hum. Genet. 87 (1991) 269-277
-
(1991)
Hum. Genet.
, vol.87
, pp. 269-277
-
-
Franco, B.1
Lai, L.W.2
Patterson, D.3
Ledbetter, D.H.4
Trask, B.J.5
Van den Engh, G.6
Iannaccone, S.7
Frances, S.8
Patel, P.I.9
Lupski, J.R.10
-
7
-
-
0017846434
-
Reproductive outcome in a family with an inherited deletion-insertion chromosome 1
-
Garver K.L., Marchese S.G., Fatora S.R., and Pan S.F. Reproductive outcome in a family with an inherited deletion-insertion chromosome 1. Am. J. Obstet. Gynecol. 131 (1978) 345-346
-
(1978)
Am. J. Obstet. Gynecol.
, vol.131
, pp. 345-346
-
-
Garver, K.L.1
Marchese, S.G.2
Fatora, S.R.3
Pan, S.F.4
-
8
-
-
0031947559
-
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis
-
Gelb B.D., Willner J.P., Dunn T.M., Kardon N.B., Verloes A., Poncin J., and Desnick R.J. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am. J. Hum. Genet. 62 (1998) 848-854
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 848-854
-
-
Gelb, B.D.1
Willner, J.P.2
Dunn, T.M.3
Kardon, N.B.4
Verloes, A.5
Poncin, J.6
Desnick, R.J.7
-
9
-
-
0023228289
-
A case of interstitial 1q deletion
-
[46,XY,del(q25q32.1)]
-
Hamano S., Fukushima Y., Yamada T., Shimizu H., Okuyama M., Ito F., and Maekawa K. A case of interstitial 1q deletion. Ann. Genet. 30 (1987) 105-108 [46,XY,del(q25q32.1)]
-
(1987)
Ann. Genet.
, vol.30
, pp. 105-108
-
-
Hamano, S.1
Fukushima, Y.2
Yamada, T.3
Shimizu, H.4
Okuyama, M.5
Ito, F.6
Maekawa, K.7
-
10
-
-
0345327689
-
Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations
-
Hoglund P., Jalkanen R., Marttinen E., and Alitalo T. Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations. Am. J. Med. Genet. 123A (2003) 290-295
-
(2003)
Am. J. Med. Genet.
, vol.123 A
, pp. 290-295
-
-
Hoglund, P.1
Jalkanen, R.2
Marttinen, E.3
Alitalo, T.4
-
11
-
-
0017156048
-
Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32)
-
Koivisto M., Akerblom H.K., Remes M., and de La Chapelle A. Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32). Acta Paediatr. Scand. 65 (1976) 513-518
-
(1976)
Acta Paediatr. Scand.
, vol.65
, pp. 513-518
-
-
Koivisto, M.1
Akerblom, H.K.2
Remes, M.3
de La Chapelle, A.4
-
12
-
-
0027447187
-
Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25)
-
Leichtman L.G., Strum D., and Brothman A.R. Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25). Am. J. Med. Genet. 45 (1993) 677-678
-
(1993)
Am. J. Med. Genet.
, vol.45
, pp. 677-678
-
-
Leichtman, L.G.1
Strum, D.2
Brothman, A.R.3
-
13
-
-
0027364533
-
Proximal deletion of the long arm of chromosome 1
-
[del(1)(q23-q25)]
-
Lo L.J., Noordhoff M.S., Huang C.S., Chen K.T., and Chen Y.R. Proximal deletion of the long arm of chromosome 1. Cleft Palate Craniofac. J. 30 (1993) 586-589 [del(1)(q23-q25)]
-
(1993)
Cleft Palate Craniofac. J.
, vol.30
, pp. 586-589
-
-
Lo, L.J.1
Noordhoff, M.S.2
Huang, C.S.3
Chen, K.T.4
Chen, Y.R.5
-
14
-
-
34250235581
-
Interstitial deletion 46,XY, del(1)(q23q25)
-
Martin A.O., and Simpson J.L. Interstitial deletion 46,XY, del(1)(q23q25). Hum. Genet. 61 (1982) 277
-
(1982)
Hum. Genet.
, vol.61
, pp. 277
-
-
Martin, A.O.1
Simpson, J.L.2
-
15
-
-
0031759342
-
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1
-
Melis D., Perone L., Sperandeo M.P., Sabbatino M.S., Tuzzi M.R., Romano A., Parenti G., and Andria G. Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1. J. Med. Genet. 35 (1998) 1047-1049
-
(1998)
J. Med. Genet.
, vol.35
, pp. 1047-1049
-
-
Melis, D.1
Perone, L.2
Sperandeo, M.P.3
Sabbatino, M.S.4
Tuzzi, M.R.5
Romano, A.6
Parenti, G.7
Andria, G.8
-
16
-
-
0035892811
-
A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency
-
Pallotta R., Dalpra L., Miozzo M., Ehresmann T., and Fusilli P. A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. Am. J. Med. Genet. 104 (2001) 282-286
-
(2001)
Am. J. Med. Genet.
, vol.104
, pp. 282-286
-
-
Pallotta, R.1
Dalpra, L.2
Miozzo, M.3
Ehresmann, T.4
Fusilli, P.5
-
17
-
-
0017603525
-
Meiotic consequences of an intrachromosomal insertion of chromosome No 1: a family pedigree
-
Pan S.F., Fatora S.R., Sorg R., Garver K.L., and Steele M.W. Meiotic consequences of an intrachromosomal insertion of chromosome No 1: a family pedigree. Clin. Genet. 12 (1977) 303-313
-
(1977)
Clin. Genet.
, vol.12
, pp. 303-313
-
-
Pan, S.F.1
Fatora, S.R.2
Sorg, R.3
Garver, K.L.4
Steele, M.W.5
-
18
-
-
0025983164
-
Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)
-
Rotmensch S., Liberati M., Luo J.S., Tallini G., Mahoney M.J., and Hobbins J.C. Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41). Prenat. Diagn. 11 (1991) 867-873
-
(1991)
Prenat. Diagn.
, vol.11
, pp. 867-873
-
-
Rotmensch, S.1
Liberati, M.2
Luo, J.S.3
Tallini, G.4
Mahoney, M.J.5
Hobbins, J.C.6
-
19
-
-
0023901906
-
Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence
-
Scarbrough P.R., Files B., Carroll A.J., Quinlan R.W., Finley S.C., and Finley W.H. Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence. Prenat. Diagn. 8 (1988) 169-174
-
(1988)
Prenat. Diagn.
, vol.8
, pp. 169-174
-
-
Scarbrough, P.R.1
Files, B.2
Carroll, A.J.3
Quinlan, R.W.4
Finley, S.C.5
Finley, W.H.6
-
20
-
-
0018929795
-
Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies
-
Schinzel A., and Schmid W. Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies. Clin. Genet. 18 (1980) 305-313
-
(1980)
Clin. Genet.
, vol.18
, pp. 305-313
-
-
Schinzel, A.1
Schmid, W.2
-
21
-
-
0021282241
-
Interstitial deletion of chromosome 1 (q23-q25). Report of a case
-
Silengo M.C., Davi G.F., Bianco R., Biagioli M., Guala A., Franceschini P., and Novelli G. Interstitial deletion of chromosome 1 (q23-q25). Report of a case. Clin. Genet. 25 (1984) 549-552
-
(1984)
Clin. Genet.
, vol.25
, pp. 549-552
-
-
Silengo, M.C.1
Davi, G.F.2
Bianco, R.3
Biagioli, M.4
Guala, A.5
Franceschini, P.6
Novelli, G.7
-
22
-
-
0021166995
-
Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q
-
Steinbach P., Wolf M., and Schmidt H. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q. Am. J. Med. Genet. 19 (1984) 131-136
-
(1984)
Am. J. Med. Genet.
, vol.19
, pp. 131-136
-
-
Steinbach, P.1
Wolf, M.2
Schmidt, H.3
-
23
-
-
0031056896
-
Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III
-
Takano T., Yamanouchi Y., Mori Y., Kudo S., Nakayama T., Sugiura M., Hashira S., and Abe T. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III. Am. J. Med. Genet. 68 (1997) 207-210
-
(1997)
Am. J. Med. Genet.
, vol.68
, pp. 207-210
-
-
Takano, T.1
Yamanouchi, Y.2
Mori, Y.3
Kudo, S.4
Nakayama, T.5
Sugiura, M.6
Hashira, S.7
Abe, T.8
-
24
-
-
0020352975
-
A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25
-
Taysi K., Sekhon G.S., and Hillman R.E. A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25. Am. J. Med. Genet. 13 (1982) 423
-
(1982)
Am. J. Med. Genet.
, vol.13
, pp. 423
-
-
Taysi, K.1
Sekhon, G.S.2
Hillman, R.E.3
-
25
-
-
0016341470
-
De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child
-
Turleau C., Roubin M., Chavin-Colin F., Satge M., and de Grouchy J. De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child. Ann. Genet. 17 (1974) 291-294
-
(1974)
Ann. Genet.
, vol.17
, pp. 291-294
-
-
Turleau, C.1
Roubin, M.2
Chavin-Colin, F.3
Satge, M.4
de Grouchy, J.5
-
26
-
-
0020644067
-
Distal 1q monosomy. 2 new cases and description of the syndrome
-
Turleau C., de Grouchy J., Frezal J., and Richardet J.M. Distal 1q monosomy. 2 new cases and description of the syndrome. Ann. Genet. 26 (1983) 161-164
-
(1983)
Ann. Genet.
, vol.26
, pp. 161-164
-
-
Turleau, C.1
de Grouchy, J.2
Frezal, J.3
Richardet, J.M.4
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