-
1
-
-
0034807374
-
Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism
-
Bonifati V., Lucking C.B., Fabrizio E., Periquet M., Meco G. & Brice A. (2001) Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism. Journal of Neurology, Neurosurgery and Psychiatry 71, 531-4.
-
(2001)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.71
, pp. 531-534
-
-
Bonifati, V.1
Lucking, C.B.2
Fabrizio, E.3
Periquet, M.4
Meco, G.5
Brice, A.6
-
2
-
-
0034764308
-
Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes
-
Breen M., Jouquand S., Renier C. et al. (2001) Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes. Genome Research 11, 1784-95.
-
(2001)
Genome Research
, vol.11
, pp. 1784-1795
-
-
Breen, M.1
Jouquand, S.2
Renier, C.3
-
3
-
-
9444243208
-
An integrated 4249 marker FISH/RH map of the canine genome
-
Breen M., Hitte C., Lorentzen T.D. et al. (2004) An integrated 4249 marker FISH/RH map of the canine genome. BMC Genomics 5, 65.
-
(2004)
BMC Genomics
, vol.5
, pp. 65
-
-
Breen, M.1
Hitte, C.2
Lorentzen, T.D.3
-
4
-
-
64549108227
-
Peaks outside the allelic ladder range and threebanded patterns
-
Ed. by M. Listewnik, J. Soucy & P. Chester, pp, Elsevier Academic Press, Burlington
-
Butler J.M. (2005) Peaks outside the allelic ladder range and threebanded patterns. In: Forensic DNA Typing (Ed. by M. Listewnik, J. Soucy & P. Chester), pp. 132-3. Elsevier Academic Press, Burlington.
-
(2005)
Forensic DNA Typing
, pp. 132-133
-
-
Butler, J.M.1
-
5
-
-
0034213622
-
Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments
-
Charbonnier F., Raux G., Wang Q., Drouot N., Cordier F., Limacher J.M., Saurin J.C., Puisieux A., Olschwang S. & Frebourg T. (2000) Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Research 60, 2760-3.
-
(2000)
Cancer Research
, vol.60
, pp. 2760-2763
-
-
Charbonnier, F.1
Raux, G.2
Wang, Q.3
Drouot, N.4
Cordier, F.5
Limacher, J.M.6
Saurin, J.C.7
Puisieux, A.8
Olschwang, S.9
Frebourg, T.10
-
7
-
-
1042278624
-
Power of exclusion for parentage verification and probability of match for identity in American Kennel Club breeds using 17 canine microsatellite markers
-
DeNise S., Johnston E., Halverson J., Marshall K., Rosenfeld D., McKenna S., Sharp T. & Edwards J. (2004) Power of exclusion for parentage verification and probability of match for identity in American Kennel Club breeds using 17 canine microsatellite markers. Animal Genetics 35, 14-7.
-
(2004)
Animal Genetics
, vol.35
, pp. 14-17
-
-
DeNise, S.1
Johnston, E.2
Halverson, J.3
Marshall, K.4
Rosenfeld, D.5
McKenna, S.6
Sharp, T.7
Edwards, J.8
-
9
-
-
0030137541
-
A class of highly polymorphic tetranucleotide repeats for canine genetic mapping
-
Francisco L.V., Langston A.A., Mellersh C.S., Neal C.L. & Ostrander E.A. (1996) A class of highly polymorphic tetranucleotide repeats for canine genetic mapping. Mammalian Genome 7, 359-62.
-
(1996)
Mammalian Genome
, vol.7
, pp. 359-362
-
-
Francisco, L.V.1
Langston, A.A.2
Mellersh, C.S.3
Neal, C.L.4
Ostrander, E.A.5
-
10
-
-
33746741125
-
Copy number variation: New insights in genome diversity
-
Freeman J.L., Perry G.H., Feuk L. et al. (2006) Copy number variation: new insights in genome diversity. Genome Research 16, 949-61.
-
(2006)
Genome Research
, vol.16
, pp. 949-961
-
-
Freeman, J.L.1
Perry, G.H.2
Feuk, L.3
-
11
-
-
33646932802
-
Semiquantitative multiplex PCR: A useful tool for large rearrangement screening and characterization
-
Garcia-Garcia A.B., Blesa S., Martinez-Hervas S., Mansego M.L., Gonzalez-Albert V., Ascaso J.F., Carmena R., Real J.T. & Chaves F.J. (2006) Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization. Human Mutation 27, 822-8.
-
(2006)
Human Mutation
, vol.27
, pp. 822-828
-
-
Garcia-Garcia, A.B.1
Blesa, S.2
Martinez-Hervas, S.3
Mansego, M.L.4
Gonzalez-Albert, V.5
Ascaso, J.F.6
Carmena, R.7
Real, J.T.8
Chaves, F.J.9
-
12
-
-
33846039019
-
-
Hubbard T.J.P., Aken B.L., Beal K. et al. (2007) Ensembl 2007. Nucleic Acids Research 35, D610-7.
-
Hubbard T.J.P., Aken B.L., Beal K. et al. (2007) Ensembl 2007. Nucleic Acids Research 35, D610-7.
-
-
-
-
13
-
-
4644236043
-
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease
-
Ibanez P., Bonnet A.-M., Debarges B., Lohmann E., Tison F., Pollak P., Agid Y., Durr A. & Brice A. (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364, 1169-71.
-
(2004)
Lancet
, vol.364
, pp. 1169-1171
-
-
Ibanez, P.1
Bonnet, A.-M.2
Debarges, B.3
Lohmann, E.4
Tison, F.5
Pollak, P.6
Agid, Y.7
Durr, A.8
Brice, A.9
-
14
-
-
0035514636
-
Canine parentage testing based on microsatellite polymorphisms
-
Ichikawa Y., Takagi K., Tsumagari S., Ishihama K., Morita M., Kanemakl M., Takeishi M. & Takahashi H. (2001) Canine parentage testing based on microsatellite polymorphisms. Journal of Veterinary Medical Science 63, 1209-13,
-
(2001)
Journal of Veterinary Medical Science
, vol.63
, pp. 1209-1213
-
-
Ichikawa, Y.1
Takagi, K.2
Tsumagari, S.3
Ishihama, K.4
Morita, M.5
Kanemakl, M.6
Takeishi, M.7
Takahashi, H.8
-
15
-
-
0033676650
-
Assessment of the population structure of five Finnish dog breeds with microsatellites
-
Koskinen M.T. & Bredbacka P. (2000) Assessment of the population structure of five Finnish dog breeds with microsatellites. Animal Genetics 31, 310-7.
-
(2000)
Animal Genetics
, vol.31
, pp. 310-317
-
-
Koskinen, M.T.1
Bredbacka, P.2
-
16
-
-
33751546259
-
Hereditary pancreatitis caused by triplication of the trypsinogen locus
-
Le Marechal C., Masson E., Chen J.-M., Morel F., Ruszniewski P., Levy P. & Ferec C. (2006) Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nature Genetics 38, 1372-4.
-
(2006)
Nature Genetics
, vol.38
, pp. 1372-1374
-
-
Le Marechal, C.1
Masson, E.2
Chen, J.-M.3
Morel, F.4
Ruszniewski, P.5
Levy, P.6
Ferec, C.7
-
17
-
-
33750682743
-
Triallelic patterns in STR loci used for paternity analysis: Evidence for a duplication in chromosome 2 containing the TPOX STR locus
-
Lukka M., Tasa G., Ellonen P., Moilanen K., Vassiljev V. & Ulmanen I. (2006) Triallelic patterns in STR loci used for paternity analysis: evidence for a duplication in chromosome 2 containing the TPOX STR locus. Forensic Science International 164, 3-9.
-
(2006)
Forensic Science International
, vol.164
, pp. 3-9
-
-
Lukka, M.1
Tasa, G.2
Ellonen, P.3
Moilanen, K.4
Vassiljev, V.5
Ulmanen, I.6
-
18
-
-
34547664096
-
Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
-
Lupski J.R. & Stankiewicz P. (2005) Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genetics 1, e49.
-
(2005)
PLoS Genetics
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
20
-
-
0031573856
-
A linkage map of the canine genome
-
Mellersh C.S., Langsten A.A., Acland G.M., Fleming M.A., Ray K., Wiegand N.A., Francisco L.V., Gibbs M., Aguirre G.D. & Ostrander E.A. (1997) A linkage map of the canine genome. Genomics 46, 326-36.
-
(1997)
Genomics
, vol.46
, pp. 326-336
-
-
Mellersh, C.S.1
Langsten, A.A.2
Acland, G.M.3
Fleming, M.A.4
Ray, K.5
Wiegand, N.A.6
Francisco, L.V.7
Gibbs, M.8
Aguirre, G.D.9
Ostrander, E.A.10
-
21
-
-
33748204582
-
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis
-
Mellersh C.S., Boursnell M.E.G., Pettitt L. et al. (2006) Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88, 293-301.
-
(2006)
Genomics
, vol.88
, pp. 293-301
-
-
Mellersh, C.S.1
Boursnell, M.E.G.2
Pettitt, L.3
-
22
-
-
9644301087
-
Discrete breakpoint mapping and shortest region of overlap of chromosome arm 1q gain and 1p loss in human hepatocellular carcinoma detected by semiquantitative microsatellite analysis
-
Nishimura T., Nishida N., Itoh T., Komeda T., Fukuda Y., Ikai I., Yamaoka Y. & Nakao K. (2005) Discrete breakpoint mapping and shortest region of overlap of chromosome arm 1q gain and 1p loss in human hepatocellular carcinoma detected by semiquantitative microsatellite analysis. Genes, Chromosomes and Cancer 42, 34-13.
-
(2005)
Genes, Chromosomes and Cancer
, vol.42
, pp. 34-13
-
-
Nishimura, T.1
Nishida, N.2
Itoh, T.3
Komeda, T.4
Fukuda, Y.5
Ikai, I.6
Yamaoka, Y.7
Nakao, K.8
-
23
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., Ishikawa S., Fitch K.R. et al. (2006) Global variation in copy number in the human genome. Nature 444, 444-54.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
24
-
-
0037161499
-
Somatic mutations at STR loci-a reason for three-allele pattern and mosaicism
-
Rolf B., Wiegand P. & Brinkmann B. (2002) Somatic mutations at STR loci-a reason for three-allele pattern and mosaicism. Forensic Science International 126, 200-2.
-
(2002)
Forensic Science International
, vol.126
, pp. 200-202
-
-
Rolf, B.1
Wiegand, P.2
Brinkmann, B.3
-
25
-
-
35349010252
-
Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs
-
Salmon Hillbertz N.H.C, Isaksson M., Karlsson E.K. et al. (2007) Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nature Genetics 39, 1318-20.
-
(2007)
Nature Genetics
, vol.39
, pp. 1318-1320
-
-
Salmon Hillbertz, N.H.C.1
Isaksson, M.2
Karlsson, E.K.3
-
26
-
-
0037406561
-
Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14
-
Wu M., Michaud E.J. & Johnson D.K, (2003) Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14. Mammalian Genome 14, 323-34.
-
(2003)
Mammalian Genome
, vol.14
, pp. 323-334
-
-
Wu, M.1
Michaud, E.J.2
Johnson, D.K.3
-
27
-
-
0037118296
-
Disputed maternity leading to identification of tetragametic chimerism
-
Yu N., Kruskall M.S., Yunis J.J. et al. (2002) Disputed maternity leading to identification of tetragametic chimerism, The New England Journal of Medicine 346, 1545-52.
-
(2002)
The New England Journal of Medicine
, vol.346
, pp. 1545-1552
-
-
Yu, N.1
Kruskall, M.S.2
Yunis, J.J.3
|