PubRank

A de Klein

Author PubWeight™ 85.30‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell 1984 6.78
2 A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 1982 5.95
3 Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia. Nature 1984 4.30
4 Structural organization of the bcr gene and its role in the Ph' translocation. Nature 1985 4.08
5 Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature 1984 3.24
6 Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 2005 2.69
7 Translocation of oncogene c-sis from chromosome 22 to chromosome 11 in a Ewing sarcoma-derived cell line. Mol Cell Biol 1985 2.45
8 Regional mapping of the human immunoglobulin lambda light chain to the Philadelphia chromosome in chronic myeloid leukaemia. Leuk Res 1984 2.44
9 Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. Br J Cancer 2009 1.93
10 The chronic myelocytic cell line K562 contains a breakpoint in bcr and produces a chimeric bcr/c-abl transcript. Mol Cell Biol 1986 1.72
11 Evidence of a new chimeric bcr/c-abl mRNA in patients with chronic myelocytic leukemia and the Philadelphia chromosome. N Engl J Med 1985 1.61
12 Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 2007 1.58
13 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 2005 1.52
14 Molecular characterization of the testis specific c-abl mRNA in mouse. EMBO J 1987 1.31
15 c-sis is translocated from chromosome 22 to chromosome 9 in chronic myelocytic leukemia. J Exp Med 1983 1.19
16 Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. Blood 1991 1.17
17 Human bone marrow cells positive for terminal deoxynucleotidyl transferase (TdT), HLA-DR, and a T cell marker may represent prothymocytes. J Immunol 1985 1.11
18 Developmental and genetic aspects of congenital diaphragmatic hernia. Pediatr Pulmonol 2012 1.10
19 C-abl and bcr are rearranged in a Ph1-negative CML patient. EMBO J 1985 1.08
20 [Molecular genetic studies in alpha-thalassemia]. Ned Tijdschr Geneeskd 1992 1.07
21 T cell receptor-CD3 complex during early T cell differentiation. Analysis of immature T cell acute lymphoblastic leukemias (T-ALL) at DNA, RNA, and cell membrane level. J Immunol 1987 1.06
22 Molecular analysis of both translocation products of a Philadelphia-positive CML patient. Nucleic Acids Res 1986 1.05
23 Localization of the human c-sis oncogene in Ph1-positive and Ph1-negative chronic myelocytic leukemia by in situ hybridization. Blood 1984 1.04
24 Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease. J Exp Med 1996 1.01
25 Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts. Birth Defects Res A Clin Mol Teratol 2009 0.97
26 High expression of ets-1 gene in human thymocytes and immature T leukemic cells. Leukemia 1988 0.97
27 Translocation of c-abl to "masked" Ph in chronic myeloid leukemia. Cancer Genet Cytogenet 1985 0.97
28 Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. Genet Test 2005 0.97
29 Association between RB-1 gene alterations and factors of favourable prognosis in human breast cancer, without effect on survival. Int J Cancer 1995 0.96
30 Linkage to markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds. Am J Hum Genet 1993 0.96
31 Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature. Am J Med Genet A 2007 0.94
32 VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. Mol Syndromol 2013 0.94
33 Breakpoint heterogeneity in t(10;11) translocation in AML-M4/M5 resulting in fusion of AF10 and MLL is resolved by fluorescent in situ hybridization analysis. Cancer Res 1995 0.93
34 Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. Mol Syndromol 2010 0.93
35 Richter's syndrome with different immunoglobulin light chains and different heavy chain gene rearrangements. Blood 1984 0.92
36 Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). Am J Hum Genet 1992 0.92
37 Congenital diaphragmatic hernia associated with duplication of 11q23-qter. Am J Med Genet A 2006 0.91
38 ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. Hum Mutat 1998 0.91
39 Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. Prenat Diagn 2010 0.90
40 Phenotype-genotype correlation in a familial IGF1R microdeletion case. J Med Genet 2009 0.88
41 Characterization of complex chromosomal abnormalities in uveal melanoma by fluorescence in situ hybridization, spectral karyotyping, and comparative genomic hybridization. Genes Chromosomes Cancer 2001 0.86
42 TACI mutations and disease susceptibility in patients with common variable immunodeficiency. Clin Exp Immunol 2008 0.86
43 Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13). Cancer Res 2001 0.84
44 Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. Br J Cancer 2013 0.83
45 A new polymorphic probe on chromosome 22: NB17 (D22S181). Nucleic Acids Res 1991 0.83
46 HLA-DR genotyping by restriction fragment length polymorphism analyses. Immunogenetics 1985 0.82
47 Human and mouse homologs of the Schizosaccharomyces pombe rad17+ cell cycle checkpoint control gene. Genomics 1999 0.82
48 Cytogenetic and molecular analysis in Philadelphia negative CML. Blood 1989 0.81
49 A human and mouse homolog of the Schizosaccharomyces pombe rad1+ cell cycle checkpoint control gene. Genomics 1998 0.81
50 The human c-abl oncogene in the Philadelphia translocation. J Cell Physiol Suppl 1984 0.80
51 The etiology of congenital diaphragmatic hernia: still largely unknown? Eur J Med Genet 2009 0.79
52 Additional c-abl/bcr rearrangements in a CML patient exhibiting two ph1 chromosomes during blast crisis. Leuk Res 1986 0.79
53 Mapping of 5q35 chromosomal rearrangements within a genomically unstable region. J Med Genet 2008 0.78
54 New approach for the identification of folate-related pathways in human embryogenesis. Cell Mol Biol (Noisy-le-grand) 2004 0.78
55 Persistence of chronic myelocytic leukemia despite deletion of rearranged bcr/c-abl sequences in blast crisis. J Exp Med 1986 0.78
56 Somatostatin receptor-positive primary breast tumors: genetic, patient and tumor characteristics. Int J Cancer 1993 0.78
57 Effect of interferon-gamma, in vitro and in vivo, on mRNA levels of phagocyte oxidase components. J Leukoc Biol 1996 0.77
58 Etiological and pathogenic factors in congenital diaphragmatic hernia. Eur J Pediatr Surg 2012 0.76
59 Orbital chondrosarcoma developing in a patient with Paget disease. Am J Ophthalmol 1999 0.76
60 A new polymorphic probe on chromosome 22: NB84 (D22S183). Nucleic Acids Res 1991 0.75
61 Absence of both subunits of cytochrome b558 in the UM384 cell line relative to the inability to generate superoxide anions. Exp Hematol 1993 0.75
62 A new polymorphic probe on chromosome 22q: NB129 (D22S193). Nucleic Acids Res 1991 0.75
63 A new polymorphic probe on chromosome 22: NB5 (D22S201). Nucleic Acids Res 1991 0.75
64 A new polymorphic probe on chromosome 22: NB35 (D22S182). Nucleic Acids Res 1991 0.75
65 Development of an interphase fluorescent in situ hybridization (FISH) test to detect t(8;21) in AML patients. Leukemia 1998 0.75
66 Chromosomal aberrations in iris melanomas. Br J Ophthalmol 2010 0.75
67 Genetic changes in somatostatin receptor positive breast tumors. J Steroid Biochem Mol Biol 1990 0.75
68 [Oncogenes, tumor suppression genes and medical genetics of cancer]. Ned Tijdschr Geneeskd 1992 0.75
69 Oncogenetic aspects of chronic myelocytic leukemia. Haematol Blood Transfus 1985 0.75
70 Expression of the human immunoglobulin heavy chain gene of the 14q+ chromosome in a t(8;14)-positive Burkitt lymphoma cell line demonstrated in somatic cell hybrids. Cancer Genet Cytogenet 1986 0.75
71 The c-abl oncogene in chronic myelogenous leukemia. Haematologica 1988 0.75