-
1
-
-
0019800346
-
The cytogenetic and clinical implications of a ring chromosome 2
-
Cote, G. B. et al. The cytogenetic and clinical implications of a ring chromosome 2. Ann. Genet. 24, 231-235 (1981).
-
(1981)
Ann. Genet.
, vol.24
, pp. 231-235
-
-
Cote, G.B.1
-
2
-
-
0023153582
-
Does ring syndrome exist? An analysis of 207 case reports on patients with a ring autosome
-
Kosztolányi, G. Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome. Hum. Genet. 75, 174-179 (1987).
-
(1987)
Hum. Genet.
, vol.75
, pp. 174-179
-
-
Kosztolányi, G.1
-
3
-
-
0000813303
-
The production of homozygous deficient tissues with mutant characteristics by means of the aberrant mitotic behavior of ring-shaped chromosomes
-
McClintock, B. The production of homozygous deficient tissues with mutant characteristics by means of the aberrant mitotic behavior of ring-shaped chromosomes. Genetics 23, 315-376 (1938).
-
(1938)
Genetics
, vol.23
, pp. 315-376
-
-
McClintock, B.1
-
5
-
-
0027080773
-
Constitutional ring chromosomes and tumor suppressor genes
-
Tommerup, N. & Lothe, R. Constitutional ring chromosomes and tumor suppressor genes. J. Med. Genetik 29, 879-882 (1992).
-
(1992)
J. Med. Genetik
, vol.29
, pp. 879-882
-
-
Tommerup, N.1
Lothe, R.2
-
6
-
-
66349120481
-
Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling
-
Jobanputra, V. et al. Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling. Am. J. Med. Genet. A. 149A, 1310-1314 (2009).
-
(2009)
Am. J. Med. Genet. A.
, vol.149 A
, pp. 1310-1314
-
-
Jobanputra, V.1
-
7
-
-
63449111970
-
Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier
-
Mantzouratau, A. et al. Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier. Mol. Cytogenet. 2, 3 (2009).
-
(2009)
Mol. Cytogenet.
, vol.2
, pp. 3
-
-
Mantzouratau, A.1
-
8
-
-
77649287480
-
Ring chromosome instability evaluation in six patients with autosomal rings
-
Sodré, C. P. et al. Ring chromosome instability evaluation in six patients with autosomal rings. Genet. Mol. Res. 9, 134-143 (2010).
-
(2010)
Genet. Mol. Res.
, vol.9
, pp. 134-143
-
-
Sodré, C.P.1
-
9
-
-
84862793632
-
Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases
-
Zhang, H. Z. et al. Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases. Cytogenet. Genome Res. 136, 180-187 (2012).
-
(2012)
Cytogenet. Genome Res.
, vol.136
, pp. 180-187
-
-
Zhang, H.Z.1
-
10
-
-
36248966518
-
Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
-
Takahashi, K. et al. Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors. Cell 131, 861-872 (2007).
-
(2007)
Cell
, vol.131
, pp. 861-872
-
-
Takahashi, K.1
-
11
-
-
36749043230
-
Induced pluripotent stem cell lines derived from human somatic cells
-
Yu, J. et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 318, 1917-1920 (2007).
-
(2007)
Science
, vol.318
, pp. 1917-1920
-
-
Yu, J.1
-
12
-
-
38049187707
-
Reprogramming of human somatic cells to pluripotency with defined factors
-
Park, I. H. et al. Reprogramming of human somatic cells to pluripotency with defined factors. Nature 451, 141-146 (2008).
-
(2008)
Nature
, vol.451
, pp. 141-146
-
-
Park, I.H.1
-
13
-
-
84881668417
-
Translating dosage compensation to trisomy 21
-
Jiang, J. et al. Translating dosage compensation to trisomy 21. Nature 500, 296-300 (2013).
-
(2013)
Nature
, vol.500
, pp. 296-300
-
-
Jiang, J.1
-
14
-
-
0020540260
-
Miller-Dieker syndrome: Lissencephaly and monosomy 17p
-
Dobyns, W. B. et al. Miller-Dieker syndrome: lissencephaly and monosomy 17p. J. Pediatr. 102, 552-558 (1983).
-
(1983)
J. Pediatr.
, vol.102
, pp. 552-558
-
-
Dobyns, W.B.1
-
15
-
-
0037385481
-
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
-
Cardoso, C. et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918-930 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 918-930
-
-
Cardoso, C.1
-
16
-
-
78049276672
-
Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies
-
Wynshaw-Boris, A. et al. Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies. Semin. Cell Dev. Biol. 21, 823-830 (2010).
-
(2010)
Semin. Cell Dev. Biol.
, vol.21
, pp. 823-830
-
-
Wynshaw-Boris, A.1
-
17
-
-
79955634826
-
A more efficient method to generate integration-free human iPS cells
-
Okita, K. et al. A more efficient method to generate integration-free human iPS cells. Nature Methods 8, 409-412 (2011).
-
(2011)
Nature Methods
, vol.8
, pp. 409-412
-
-
Okita, K.1
-
18
-
-
0034098812
-
Mechanisms leading to uniparental disomy and their clinical consequences
-
Robinson, W. P. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22, 452-459 (2000).
-
(2000)
Bioessays
, vol.22
, pp. 452-459
-
-
Robinson, W.P.1
-
19
-
-
0041692940
-
Molecular Characterization of An Inherited Ring (19) Demonstrating Ring Opening
-
Speevak, M. D. et al. Molecular characterization of an inherited ring (19) demonstrating ring opening. Am. J. Med. Genet. A. 121A, 141-145 (2003).
-
(2003)
Am. J. Med. Genet. A.
, vol.121 A
, pp. 141-145
-
-
Speevak, M.D.1
-
20
-
-
84873569333
-
Genome damage in induced pluripotent stem cells: Assessing the mechanisms and their consequences
-
Hussein, S. M. et al. Genome damage in induced pluripotent stem cells: assessing the mechanisms and their consequences. Bioessays 35, 152-162 (2013).
-
(2013)
Bioessays
, vol.35
, pp. 152-162
-
-
Hussein, S.M.1
-
21
-
-
77649131406
-
Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis
-
Moynahan, M. E. & Jasin, M. Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis. Nature Rev. Mol. Cell Biol. 11, 196-207 (2010).
-
(2010)
Nature Rev. Mol. Cell Biol.
, vol.11
, pp. 196-207
-
-
Moynahan, M.E.1
Jasin, M.2
-
22
-
-
0348103716
-
Recurrent gain of chromosomes17q and 12 in cultured human embryonic stem cells
-
Draper, J. S. et al. Recurrent gain of chromosomes17q and 12 in cultured human embryonic stem cells. Nature Biotechnol. 22, 53-54 (2004).
-
(2004)
Nature Biotechnol.
, vol.22
, pp. 53-54
-
-
Draper, J.S.1
-
23
-
-
33846879559
-
Adaptation to culture of human embryonic stem cells and oncogenesis in vivo
-
Baker, D. E. et al. Adaptation to culture of human embryonic stem cells and oncogenesis in vivo. Nature Biotechnol. 25, 207-215 (2007).
-
(2007)
Nature Biotechnol.
, vol.25
, pp. 207-215
-
-
Baker, D.E.1
-
24
-
-
57449090630
-
Recurrent chromosomal abnormalities in human embryonic stem cells
-
Spits, C. et al. Recurrent chromosomal abnormalities in human embryonic stem cells. Nature Biotechnol. 26, 1361-1363 (2008).
-
(2008)
Nature Biotechnol.
, vol.26
, pp. 1361-1363
-
-
Spits, C.1
-
25
-
-
0035206272
-
The inhibitor of apoptosis protein survivin is associated with high-risk behavior of neuroblastoma
-
Azuhata, T. et al. The inhibitor of apoptosis protein survivin is associated with high-risk behavior of neuroblastoma. J. Pediatr. Surg. 36, 1785-1791 (2001).
-
(2001)
J. Pediatr. Surg.
, vol.36
, pp. 1785-1791
-
-
Azuhata, T.1
-
26
-
-
28844461213
-
Decatenation checkpoint deficiency in stemand progenitor cells
-
Damelin, M. et al.Decatenation checkpoint deficiency in stemand progenitor cells. Cancer Cell 8, 479-484 (2005).
-
(2005)
Cancer Cell
, vol.8
, pp. 479-484
-
-
Damelin, M.1
-
27
-
-
0036295563
-
Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: A review
-
Wilton, L. Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review. Prenat. Diagn. 22, 512-518 (2002).
-
(2002)
Prenat. Diagn.
, vol.22
, pp. 512-518
-
-
Wilton, L.1
-
28
-
-
66749169417
-
Chromosome instability is common in human cleavage-stage embryos
-
Vanneste, E. et al. Chromosome instability is common in human cleavage-stage embryos. Nature Med. 15, 577-583 (2009).
-
(2009)
Nature Med.
, vol.15
, pp. 577-583
-
-
Vanneste, E.1
-
29
-
-
0026725258
-
Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21
-
Petersen, M. B. et al. Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics 13, 269-274 (1992).
-
(1992)
Genomics
, vol.13
, pp. 269-274
-
-
Petersen, M.B.1
-
30
-
-
0028290335
-
Compensatory uniparental disomy of chromosome 21 in two cases
-
Bartsch, O. et al. "Compensatory" uniparental disomy of chromosome 21 in two cases. J. Med. Genet. 31, 534-540 (1994).
-
(1994)
J. Med. Genet.
, vol.31
, pp. 534-540
-
-
Bartsch, O.1
-
31
-
-
84889876122
-
Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation
-
Matsumoto, Y. et al. Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation. Orphanet J. Rare Dis. 8, 190-204 (2013).
-
(2013)
Orphanet J. Rare Dis.
, vol.8
, pp. 190-204
-
-
Matsumoto, Y.1
-
32
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
Pfaffl, M. W. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 29, e45 (2001).
-
(2001)
Nucleic Acids Res.
, vol.29
-
-
Pfaffl, M.W.1
-
33
-
-
79960700796
-
Next generation genome-wide association tool: Design and coverage of a high-throughput European-optimized SNP array
-
Hoffmann, T. J. et al. Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. Genomics 98, 79-89 (2011).
-
(2011)
Genomics
, vol.98
, pp. 79-89
-
-
Hoffmann, T.J.1
-
35
-
-
0037316303
-
A comparison of Normalization methods for high density oligonucleotide array data based on variance and bias
-
Bolstad, B. M. et al. A comparison of Normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 19, 185-193 (2003).
-
(2003)
Bioinformatics
, vol.19
, pp. 185-193
-
-
Bolstad, B.M.1
-
36
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss, L. A. et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358, 667-675 (2008).
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
-
37
-
-
34247877877
-
QuantiSNP: An objective Bayes hidden-Markov model to detect and accurately map copy number variation using SNP genotyping data
-
Colella, S. et al. QuantiSNP: an objective Bayes hidden-Markov model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res. 35, 2013-2025 (2007).
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 2013-2025
-
-
Colella, S.1
-
38
-
-
45849151146
-
Protocols for cytogenetic studies of human embryonic stem cells
-
Meisner, L. F. & Johnson, J. A. Protocols for cytogenetic studies of human embryonic stem cells. Methods 45, 133-141 (2008).
-
(2008)
Methods
, vol.45
, pp. 133-141
-
-
Meisner, L.F.1
Johnson, J.A.2
|