-
1
-
-
0025921769
-
Chromosome abnormalities found among 34910 newborn children: Results from a 13-year incidence study in Arhus, Denmark
-
Nielsen J, Wohlert M. Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81-83.
-
(1991)
Hum Genet
, vol.87
, pp. 81-83
-
-
Nielsen, J.1
Wohlert, M.2
-
2
-
-
0025941775
-
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
-
Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991;49:995-1013.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 995-1013
-
-
Warburton, D.1
-
3
-
-
61449116438
-
Associazione Italiana di Citogenetica Medica
-
Diagnostica Citogenetica, Consensus 1995
-
Diagnostica Citogenetica, Consensus 1995. Associazione Italiana di Citogenetica Medica. Analysis 1995;8.
-
(1995)
Analysis
, vol.8
-
-
-
4
-
-
13144255727
-
Quality guide-lines and standards for genetic laboratories/clinics in prenatal diagnosis on fetal samples obtained by invasive procedures
-
EUCROMIC Quality Assessment Group. Quality guide-lines and standards for genetic laboratories/clinics in prenatal diagnosis on fetal samples obtained by invasive procedures. Eur J Hum Genet 1997;5:342-350.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 342-350
-
-
-
6
-
-
0027141909
-
Prenatal diagnosis of an extranimerary i(22p) with normal phenotype
-
Doneda L, Dalprà L, Larizza L. Prenatal diagnosis of an extranimerary i(22p) with normal phenotype. Ann Genet 1993;36:154-158.
-
(1993)
Ann Genet
, vol.36
, pp. 154-158
-
-
Doneda, L.1
Dalprà, L.2
Larizza, L.3
-
7
-
-
0029794301
-
Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities
-
Tibiletti MG, Sala E, Colombo D, Arlati S, Varisco T, La Placa G. Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities. Ann Genet 1996;39:168-172.
-
(1996)
Ann Genet
, vol.39
, pp. 168-172
-
-
Tibiletti, M.G.1
Sala, E.2
Colombo, D.3
Arlati, S.4
Varisco, T.5
La Placa, G.6
-
8
-
-
0031012076
-
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients
-
Bettio D, Rizzi N, Giardino D, Guerrieri F, et al. FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients. Am J Med Genet 1997;68:99-104.
-
(1997)
Am J Med Genet
, vol.68
, pp. 99-104
-
-
Bettio, D.1
Rizzi, N.2
Giardino, D.3
Guerrieri, F.4
-
9
-
-
0030763932
-
Combined use of cytogenetic analysis and FISH for the identification of two antenatal de novo markers as Robertsonian translocations involving the p arms
-
Pierluigi M, Battaglia P, Perfumo C, Baroncini A, Bricarelli FD. Combined use of cytogenetic analysis and FISH for the identification of two antenatal de novo markers as Robertsonian translocations involving the p arms. Ann Genet 1997;40:99-103.
-
(1997)
Ann Genet
, vol.40
, pp. 99-103
-
-
Pierluigi, M.1
Battaglia, P.2
Perfumo, C.3
Baroncini, A.4
Bricarelli, F.D.5
-
10
-
-
0033522780
-
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes
-
Giardino D, Bettio D, Gottardi G, Rizzi N, et al. FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes. Am J Med Genet 1999;84:377-380.
-
(1999)
Am J Med Genet
, vol.84
, pp. 377-380
-
-
Giardino, D.1
Bettio, D.2
Gottardi, G.3
Rizzi, N.4
-
11
-
-
0035174562
-
Identification of a small supernumerary marker chromosome, r(2)(p10;q11.2), and the problem of determining prognosis
-
Villa N, Riva P, Colombo D, Sala F, et al. Identification of a small supernumerary marker chromosome, r(2)(p10;q11.2), and the problem of determining prognosis. Pren Diagn 2001;21:801-805.
-
(2001)
Pren Diagn
, vol.21
, pp. 801-805
-
-
Villa, N.1
Riva, P.2
Colombo, D.3
Sala, F.4
-
12
-
-
0035057465
-
Relationship between clinical and genetic features in "inverted duplicated chromosome15" patients
-
Borgatti R, Piccinelli P, Passoni D, Dalprà L, et al. Relationship between clinical and genetic features in "inverted duplicated chromosome15" patients. Pediatr Neurol 2001;24: 111-116.
-
(2001)
Pediatr Neurol
, vol.24
, pp. 111-116
-
-
Borgatti, R.1
Piccinelli, P.2
Passoni, D.3
Dalprà, L.4
-
13
-
-
0037101862
-
Small familial supernumerary ring 2: FISH characterization and genotype-phenotype correlation
-
Giardino D, Finelli P, Russo S, Gottardi G, et al. Small familial supernumerary ring 2: FISH characterization and genotype-phenotype correlation. Am J Med Genet 2002;111:319-323.
-
(2002)
Am J Med Genet
, vol.111
, pp. 319-323
-
-
Giardino, D.1
Finelli, P.2
Russo, S.3
Gottardi, G.4
-
14
-
-
4744359821
-
Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report
-
Demori E, Devescovi R, Benussi DG, Dolce S, et al. Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report. Am J Med Genet 2004;130A(3):288-294.
-
(2004)
Am J Med Genet
, vol.130 A
, Issue.3
, pp. 288-294
-
-
Demori, E.1
Devescovi, R.2
Benussi, D.G.3
Dolce, S.4
-
15
-
-
0026529558
-
Prenatal biochemical screening for Down's syndrome and neural tube defects
-
Wald NJ, Kennard A. Prenatal biochemical screening for Down's syndrome and neural tube defects. Curr Opin Obstet Gynecol 1992;4(2):302-307.
-
(1992)
Curr Opin Obstet Gynecol
, vol.4
, Issue.2
, pp. 302-307
-
-
Wald, N.J.1
Kennard, A.2
-
16
-
-
0036783383
-
Neocentromeres: Role in human disease, evolution, and centromere study
-
Amor DJ, Choo KH. Neocentromeres: role in human disease, evolution, and centromere study. Am J Hum Genet 2002;71:695-714.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 695-714
-
-
Amor, D.J.1
Choo, K.H.2
-
17
-
-
0035869201
-
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
-
Anderlid BM, Sahlen S, Schoumans J, Holmberg E, et al. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 2001;99:223-233.
-
(2001)
Am J Med Genet
, vol.99
, pp. 223-233
-
-
Anderlid, B.M.1
Sahlen, S.2
Schoumans, J.3
Holmberg, E.4
-
18
-
-
0034011451
-
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH
-
Stankiewicz P, Bocian E, Jakubów-Durska K, Obersztyn E, et al. Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH. J Med Genet 2000;37:114-120.
-
(2000)
J Med Genet
, vol.37
, pp. 114-120
-
-
Stankiewicz, P.1
Bocian, E.2
Jakubów-Durska, K.3
Obersztyn, E.4
-
19
-
-
0042320679
-
A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15
-
Daniel A, Malafiej P. A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. Am J Med Genet 2003;117A:212-222.
-
(2003)
Am J Med Genet
, vol.117
, pp. 212-222
-
-
Daniel, A.1
Malafiej, P.2
-
20
-
-
10744232485
-
Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification
-
Starke H, Nietzel A, Weise A, Heller A, et al. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 2003;114:51-67.
-
(2003)
Hum Genet
, vol.114
, pp. 51-67
-
-
Starke, H.1
Nietzel, A.2
Weise, A.3
Heller, A.4
-
21
-
-
10744223651
-
Role of TBX1 in human de122q11.2 syndrome
-
Yagi H, Furutani Y, Hamada H, Sasaki T, et al. Role of TBX1 in human de122q11.2 syndrome. Lancet 2003;362:1366-1373.
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamada, H.3
Sasaki, T.4
-
22
-
-
0038074204
-
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
-
Bartsch O, Nemeckova M, Kocarek E, Wagner A, et al. DiGeorge/ velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet 2003;117A:1-5.
-
(2003)
Am J Med Genet
, vol.117 A
, pp. 1-5
-
-
Bartsch, O.1
Nemeckova, M.2
Kocarek, E.3
Wagner, A.4
-
23
-
-
0036918137
-
Relationship between clinical and genetic diagnosis of Prader-Willi syndrome
-
Whittington J, Holland A, Webb T, Butler J, Clarke D, Boer H. Relationship between clinical and genetic diagnosis of Prader-Willi syndrome. (Letter) J Med Genet 2002;39:926-932.
-
(2002)
(Letter) J Med Genet
, vol.39
, pp. 926-932
-
-
Whittington, J.1
Holland, A.2
Webb, T.3
Butler, J.4
Clarke, D.5
Boer, H.6
-
24
-
-
4344625842
-
Small supernumerary marker chromosomes (sSMC) in humans
-
Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004;107:55-67.
-
(2004)
Cytogenet Genome Res
, vol.107
, pp. 55-67
-
-
Liehr, T.1
Claussen, U.2
Starke, H.3
-
25
-
-
13544262673
-
Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited
-
Crolla JA, Youings SA, Ennis S, Jacobs PA. Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. Eur J Hum Genet 2005;13:154-160.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 154-160
-
-
Crolla, J.A.1
Youings, S.A.2
Ennis, S.3
Jacobs, P.A.4
-
26
-
-
0032477707
-
FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those from chromosome 15: Review of the literature
-
Crolla JA. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those from chromosome 15: review of the literature. Am J Med Genet 1998;75:367-381.
-
(1998)
Am J Med Genet
, vol.75
, pp. 367-381
-
-
Crolla, J.A.1
-
27
-
-
0027272924
-
Morphology and nuclear contents in IVF embryos
-
Dalprà L, Tibiletti MG, Cristiani C, Ragni G, Crosignani PM. Morphology and nuclear contents in IVF embryos. Ann Genet 1993;36:100-106.
-
(1993)
Ann Genet
, vol.36
, pp. 100-106
-
-
Dalprà, L.1
Tibiletti, M.G.2
Cristiani, C.3
Ragni, G.4
Crosignani, P.M.5
-
28
-
-
0036796014
-
Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): Coincidence or consequence?
-
Kotzot D. Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence? J Med Genet 2002;39:775-778.
-
(2002)
J Med Genet
, vol.39
, pp. 775-778
-
-
Kotzot, D.1
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