-
2
-
-
0014585053
-
Familial 2-C translocation: 46,XYt(2p-;Cp+) and 46,XXCp+
-
Bender K, FAU-Reinwein H, Gorman LZ, et al. Familial 2-C translocation: 46,XYt(2p-;Cp+) and 46,XXCp+. Humangenetik. 1969;8:94-104.
-
(1969)
Humangenetik
, vol.8
, pp. 94-104
-
-
Bender, K.1
Fau-Reinwein, H.2
Gorman, L.Z.3
-
3
-
-
0028925114
-
Trisomy 2p: Analysis of unusual phenotypic findings
-
Lurie IW, Ilyina HG, Gurevich DB, et al. Trisomy 2p: analysis of unusual phenotypic findings. Am J Med Genet. 1995;55:229-236.
-
(1995)
Am J Med Genet
, vol.55
, pp. 229-236
-
-
Lurie, I.W.1
Ilyina, H.G.2
Gurevich, D.B.3
-
4
-
-
0019162396
-
Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+)
-
Say B, Carpenter NJ, Giacoia G, et al. Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+). J Med Genet. 1980;17:477-478.
-
(1980)
J Med Genet
, vol.17
, pp. 477-478
-
-
Say, B.1
Carpenter, N.J.2
Giacoia, G.3
-
6
-
-
0030771556
-
Germline duplication of chromosome 2p and neuroblastoma
-
Patel JS, Pearson J, Willatt L, et al. Germline duplication of chromosome 2p and neuroblastoma. J Med Genet. 1997;34:949-951.
-
(1997)
J Med Genet
, vol.34
, pp. 949-951
-
-
Patel, J.S.1
Pearson, J.2
Willatt, L.3
-
7
-
-
0033498332
-
Surgical results of persistent hyperplastic primary vitreous
-
Dass AB, Trese MT. Surgical results of persistent hyperplastic primary vitreous. Ophthalmology. 1999;106:280-284.
-
(1999)
Ophthalmology
, vol.106
, pp. 280-284
-
-
Dass, A.B.1
Trese, M.T.2
-
8
-
-
0344440998
-
Localised and unresectable neuroblastoma in infants: Excellent outcome with low-dose primary chemotherapy
-
Rubie H, Coze C, Plantaz D, et al. Localised and unresectable neuroblastoma in infants: excellent outcome with low-dose primary chemotherapy. Br J Cancer. 2003;89:1605-1609.
-
(2003)
Br J Cancer
, vol.89
, pp. 1605-1609
-
-
Rubie, H.1
Coze, C.2
Plantaz, D.3
-
9
-
-
4444327111
-
Molecular characterization of inv dup del(8p): Analysis of five cases
-
Shimokawa O, Kurosawa K, Ida T, et al. Molecular characterization of inv dup del(8p): analysis of five cases. Am J Med Genet A. 2004;128:133-137.
-
(2004)
Am J Med Genet A
, vol.128
, pp. 133-137
-
-
Shimokawa, O.1
Kurosawa, K.2
Ida, T.3
-
10
-
-
0021063273
-
Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour
-
Schwab M, Alitalo K, Klempnauer KH, et al. Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature. 1983;305:245-248.
-
(1983)
Nature
, vol.305
, pp. 245-248
-
-
Schwab, M.1
Alitalo, K.2
Klempnauer, K.H.3
-
11
-
-
0021261878
-
Amplification of N-myc in untreated human neuroblastomas correlates with advanced disease stage
-
Brodeur GM, Seeger RC, Schwab M, et al. Amplification of N-myc in untreated human neuroblastomas correlates with advanced disease stage. Science. 1984;224:1121-1124.
-
(1984)
Science
, vol.224
, pp. 1121-1124
-
-
Brodeur, G.M.1
Seeger, R.C.2
Schwab, M.3
-
12
-
-
0035677931
-
Neuroblastoma tumour genetics: Clinical and biological aspects
-
Bown N. Neuroblastoma tumour genetics: clinical and biological aspects. J Clin Pathol. 2001;54:897-910.
-
(2001)
J Clin Pathol
, vol.54
, pp. 897-910
-
-
Bown, N.1
-
13
-
-
0029121683
-
Duplication of N-MYC at its resident site 2p24 may be a mechanism of activation alternative to amplification in human neuroblastoma cells
-
Corvi R, Savelyeva L, Schwab M. Duplication of N-MYC at its resident site 2p24 may be a mechanism of activation alternative to amplification in human neuroblastoma cells. Cancer Res. 1995;55:3471-3474.
-
(1995)
Cancer Res
, vol.55
, pp. 3471-3474
-
-
Corvi, R.1
Savelyeva, L.2
Schwab, M.3
-
14
-
-
0036901432
-
MYCN gene overrepresentation detected in primary neuroblastoma tumour cells without amplification
-
Valent A, Le Roux G, Barrois M, et al. MYCN gene overrepresentation detected in primary neuroblastoma tumour cells without amplification. J Pathol. 2002;198:495-501.
-
(2002)
J Pathol
, vol.198
, pp. 495-501
-
-
Valent, A.1
Le Roux, G.2
Barrois, M.3
-
15
-
-
0026772983
-
Distal 8p deletion (8p23. 1 - 8pter): A common deletion?
-
Hutchinson R, Wilson M, Voullaire L. Distal 8p deletion (8p23. 1 - 8pter): a common deletion? J Med Genet. 1992;29:407-411.
-
(1992)
J Med Genet
, vol.29
, pp. 407-411
-
-
Hutchinson, R.1
Wilson, M.2
Voullaire, L.3
-
16
-
-
0029866263
-
Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation
-
Wu BL, Schneider GH, Sabatino DE, et al. Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet. 1996;62:77-83.
-
(1996)
Am J Med Genet
, vol.62
, pp. 77-83
-
-
Wu, B.L.1
Schneider, G.H.2
Sabatino, D.E.3
-
17
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
Garg V, Kathiriya IS, Barnes R, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature. 2003;424:443-447.
-
(2003)
Nature
, vol.424
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
-
18
-
-
20944442976
-
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
-
Hirayama-Yamada K, Kamisago M, Akimoto K, et al. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A. 2005;135:47-52.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 47-52
-
-
Hirayama-Yamada, K.1
Kamisago, M.2
Akimoto, K.3
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