-
1
-
-
0029557072
-
Parental exposure to hydrocarbons in Prader-Willi syndrome
-
Åkefeldt, A., M. Anvret, U. Grandell, R. Nordlinder, and C. Gillberg. 1995. Parental exposure to hydrocarbons in Prader-Willi syndrome. Dev. Med. Child. Neurol. 37: 1101-1109.
-
(1995)
Dev. Med. Child. Neurol.
, vol.37
, pp. 1101-1109
-
-
Åkefeldt, A.1
Anvret, M.2
Grandell, U.3
Nordlinder, R.4
Gillberg, C.5
-
2
-
-
0029657886
-
Localization of chi1-related helicase genes to human chromosome regions 12p11 and 12p13: Similarity between parts of these genes and conserved human telomeric-associated DNA
-
Amann, J., M. Valentine, V.J. Kidd, and J.M. Lahti. 1996. Localization of chi1-related helicase genes to human chromosome regions 12p11 and 12p13: Similarity between parts of these genes and conserved human telomeric-associated DNA. Genomics 32: 260-265.
-
(1996)
Genomics
, vol.32
, pp. 260-265
-
-
Amann, J.1
Valentine, M.2
Kidd, V.J.3
Lahti, J.M.4
-
3
-
-
0033361765
-
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
-
Amos-Landgraf, J.M., Y. Ji, W. Gottlieb, T. Depinet, A. Wandstradt, S.B. Cassidy, D.J. Driscoll, P.K. Rogan, S. Schwartz, and R.D. Nicholls. 1999. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am. J. Hum. Genet. 65: 370-386.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 370-386
-
-
Amos-Landgraf, J.M.1
Ji, Y.2
Gottlieb, W.3
Depinet, T.4
Wandstradt, A.5
Cassidy, S.B.6
Driscoll, D.J.7
Rogan, P.K.8
Schwartz, S.9
Nicholls, R.D.10
-
4
-
-
0028808901
-
Carcinogens induce intrachromosomal recombination in human cells
-
Aubrecht, J., R. Rugo, and R.H. Schiestl. 1995. Carcinogens induce intrachromosomal recombination in human cells. Carcinogenesis 16: 2841-2846.
-
(1995)
Carcinogenesis
, vol.16
, pp. 2841-2846
-
-
Aubrecht, J.1
Rugo, R.2
Schiestl, R.H.3
-
5
-
-
0032982031
-
Is the genetic basis of DiGeorge syndrome in HAND?
-
Baldini A. 1999. Is the genetic basis of DiGeorge syndrome in HAND? Nat. Genet. 21: 246-247.
-
(1999)
Nat. Genet.
, vol.21
, pp. 246-247
-
-
Baldini, A.1
-
6
-
-
0025167556
-
Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region
-
Ballabio, A., B. Bardoni, S. Guioli, E. Basler, and G. Camerino. 1990. Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region. Genomics 8: 263-270.
-
(1990)
Genomics
, vol.8
, pp. 263-270
-
-
Ballabio, A.1
Bardoni, B.2
Guioli, S.3
Basler, E.4
Camerino, G.5
-
7
-
-
0031945026
-
High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions
-
Baumer, A., F. Dutly, D. Balmer, M. Riegel, T. Tukel, M. Krajewska-Walaseck, and A.A. Schinzel. 1998. High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum. Mol. Genet. 7: 887-894.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 887-894
-
-
Baumer, A.1
Dutly, F.2
Balmer, D.3
Riegel, M.4
Tukel, T.5
Krajewska-Walaseck, M.6
Schinzel, A.A.7
-
8
-
-
0027263927
-
In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease
-
Bernardi, F., P. Patracchini, D. Gammati, M. Pinotti, C. Schwienbacher, G. Ballerini, and G. Marchetti. 1993. In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease. Hum. Mol. Genet. 2: 545-548.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 545-548
-
-
Bernardi, F.1
Patracchini, P.2
Gammati, D.3
Pinotti, M.4
Schwienbacher, C.5
Ballerini, G.6
Marchetti, G.7
-
9
-
-
0030030169
-
Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin
-
Blair, I.P., J. Nash, M.J. Gordon, and G.A. Nicholson. 1996. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin. Am. J. Hum. Genet. 58: 472-476.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 472-476
-
-
Blair, I.P.1
Nash, J.2
Gordon, M.J.3
Nicholson, G.A.4
-
10
-
-
0028947788
-
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization
-
Blennow, E., K. Brondum-Nielsen, H. Telenius, N.P. Carter, U. Kristoffersson, E. Holmberg, C. Gillberg, and M. Nordenskjold. 1995. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am. J Med. Genet. 55: 85-94.
-
(1995)
Am. J Med. Genet.
, vol.55
, pp. 85-94
-
-
Blennow, E.1
Brondum-Nielsen, K.2
Telenius, H.3
Carter, N.P.4
Kristoffersson, U.5
Holmberg, E.6
Gillberg, C.7
Nordenskjold, M.8
-
11
-
-
0028926890
-
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
-
Bondeson, M.L., N. Dahl, H. Malmgren, W.J. Kleijer, T. Tonnesen, B.M. Carlberg, and U. Pettersson. 1995. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum. Mol. Genet. 4: 615-621.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 615-621
-
-
Bondeson, M.L.1
Dahl, N.2
Malmgren, H.3
Kleijer, W.J.4
Tonnesen, T.5
Carlberg, B.M.6
Pettersson, U.7
-
12
-
-
0025303031
-
Structural features of transposed human Vk genes and implications for the mechanism of their transpositions
-
Borden, P., R. Jaenichen, and H. Zachau. 1990. Structural features of transposed human Vk genes and implications for the mechanism of their transpositions. Nucleic Acids Res. 18: 2101-2107.
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 2101-2107
-
-
Borden, P.1
Jaenichen, R.2
Zachau, H.3
-
13
-
-
0031038297
-
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A
-
Bort, S., F. Martínez, and F. Palau. 1997. Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. Am. J. Hum. Genet. 60: 230-233.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 230-233
-
-
Bort, S.1
Martínez, F.2
Palau, F.3
-
14
-
-
0033557889
-
A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13
-
Brand-Arpon, V., S. Rouquier, H. Massa, P.J. de Jong, C. Ferraz, P.A. Ioannou, J.G. Demaille, B.J. Trask, and D. Giorgi. 1999. A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13. Genomics 56:98-110.
-
(1999)
Genomics
, vol.56
, pp. 98-110
-
-
Brand-Arpon, V.1
Rouquier, S.2
Massa, H.3
De Jong, P.J.4
Ferraz, C.5
Ioannou, P.A.6
Demaille, J.G.7
Trask, B.J.8
Giorgi, D.9
-
15
-
-
0031444629
-
Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations
-
Browne, C.E., N.R. Dennis, E. Maher, F.L. Long, J.C. Nicholson, J. Sillibourne, and J.C.K. Barber. 1997. Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations. Am. J. Hum. Genet. 61: 1342-1352.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1342-1352
-
-
Browne, C.E.1
Dennis, N.R.2
Maher, E.3
Long, F.L.4
Nicholson, J.C.5
Sillibourne, J.6
Barber, J.C.K.7
-
16
-
-
0026636630
-
A putative gene family in 15q11-13 and 16p11.2: Possible implications for Prader-Willi and Angelman syndromes
-
Buiting, K., V. Greger, B.H. Brownstein, R.M. Mohr, I. Voiculescu, A. Winterpacht, B. Zabel, and B. Horsthemke. 1992. A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. Proc. Natl. Acad. Sci. 89:5457-5461.
-
(1992)
Proc. Natl. Acad. Sci.
, vol.89
, pp. 5457-5461
-
-
Buiting, K.1
Greger, V.2
Brownstein, B.H.3
Mohr, R.M.4
Voiculescu, I.5
Winterpacht, A.6
Zabel, B.7
Horsthemke, B.8
-
17
-
-
0031663726
-
Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes
-
Buiting, K., S. Gross, Y. Ji, G. Senger, R.D. Nicholls, and B. Horsthemke. 1998. Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. Cytogenet. Cell Genet. 81: 247-253.
-
(1998)
Cytogenet. Cell Genet.
, vol.81
, pp. 247-253
-
-
Buiting, K.1
Gross, S.2
Ji, Y.3
Senger, G.4
Nicholls, R.D.5
Horsthemke, B.6
-
18
-
-
17544385914
-
The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-q13
-
Buiting, K., C. Korner, B. Ulrich, E. Wahle, B. Horsthemke. 1999. The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-q13. Cytogenet. Cell Genet. 87: 125-131.
-
(1999)
Cytogenet. Cell Genet.
, vol.87
, pp. 125-131
-
-
Buiting, K.1
Korner, C.2
Ulrich, B.3
Wahle, E.4
Horsthemke, B.5
-
19
-
-
16944364251
-
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
-
Carlson, C., H. Sirotkin, R. Pandita, R. Goldberg, J. McKie, R. Wadey, S.R. Patanjali, S.M. Weissman, K. Anyane-Yeboa, D. Warburton et al. 1997. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am. J. Hum. Genet. 61: 620-629.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 620-629
-
-
Carlson, C.1
Sirotkin, H.2
Pandita, R.3
Goldberg, R.4
McKie, J.5
Wadey, R.6
Patanjali, S.R.7
Weissman, S.M.8
Anyane-Yeboa, K.9
Warburton, D.10
-
20
-
-
0030863574
-
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome
-
Carrozzo, R., E. Rossi, S.L. Christian, K. Kittikamron, C. Livieri, A. Corrias, L. Pucci, A. Fois, P. Simi, L. Bosio et al. 1997. Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am. J. Hum. Genet. 61: 228-231.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 228-231
-
-
Carrozzo, R.1
Rossi, E.2
Christian, S.L.3
Kittikamron, K.4
Livieri, C.5
Corrias, A.6
Pucci, L.7
Fois, A.8
Simi, P.9
Bosio, L.10
-
21
-
-
0024335285
-
Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletion of 15q
-
Cassidy, S.B., A.J. Gainey, and M.G. Butler. 1989. Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletion of 15q. Am. J. Hum. Genet. 44: 806-810.
-
(1989)
Am. J. Hum. Genet.
, vol.44
, pp. 806-810
-
-
Cassidy, S.B.1
Gainey, A.J.2
Butler, M.G.3
-
22
-
-
0342518912
-
-
Cassidy, S.B., J. Conroy, L. Becker, and S. Schwartz. 1996. Paternal triplication of 15q11-q13 in a hypotonic, developmentally delayed child without Prader-Willi or Angelman syndrome.
-
(1996)
Paternal Triplication of 15q11-q13 in a Hypotonic, Developmentally Delayed Child Without Prader-Willi or Angelman Syndrome
-
-
Cassidy, S.B.1
Conroy, J.2
Becker, L.3
Schwartz, S.4
-
23
-
-
0027981751
-
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies
-
Chance, P.F. and K.H. Fischbeck. 1994. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Hum. Mol. Genet. 3: 1503-1507. Am. J. Med. Genet. 62: 206-207.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1503-1507
-
-
Chance, P.F.1
Fischbeck, K.H.2
-
24
-
-
0027981751
-
-
Chance, P.F. and K.H. Fischbeck. 1994. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Hum. Mol. Genet. 3: 1503-1507. Am. J. Med. Genet. 62: 206-207.
-
Am. J. Med. Genet.
, vol.62
, pp. 206-207
-
-
-
25
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance, P.F., M.K. Alderson, K.A. Leppig, M.W. Lensch, N. Matsunami, B. Smith, P.D. Swanson, S.J. Odelberg, C.M. Disteche, and T.D. Bird. 1993. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151.
-
(1993)
Cell
, vol.72
, pp. 143-151
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
Lensch, M.W.4
Matsunami, N.5
Smith, B.6
Swanson, P.D.7
Odelberg, S.J.8
Disteche, C.M.9
Bird, T.D.10
-
26
-
-
0025908007
-
On the parental origin of de novo mutation in man
-
Chandley, A.C. 1991. On the parental origin of de novo mutation in man. J. Med. Genet. 28: 217-223.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 217-223
-
-
Chandley, A.C.1
-
27
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen, K.S., P. Manian, T. Koeuth, L. Potocki, Q. Zhao, A.C. Chinault, C.C. Lee, and J.R. Lupski. 1997. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet. 17: 154-163.
-
(1997)
Nat. Genet.
, vol.17
, pp. 154-163
-
-
Chen, K.S.1
Manian, P.2
Koeuth, T.3
Potocki, L.4
Zhao, Q.5
Chinault, A.C.6
Lee, C.C.7
Lupski, J.R.8
-
28
-
-
0027994534
-
Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients
-
Cheng, S.D., N.B. Spinner, E.H. Zackai, and J.H. Knoll. 1994. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am. J. Hum. Genet. 55: 753-759.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 753-759
-
-
Cheng, S.D.1
Spinner, N.B.2
Zackai, E.H.3
Knoll, J.H.4
-
29
-
-
0029011991
-
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
-
Christian, S.L., W.P. Robinson, B. Huang, A. Mutirangura, M.R. Line, M. Nakao, U. Surti, A. Chakravarti, and D.H. Ledbetter. 1995. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet. 57: 40-48.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 40-48
-
-
Christian, S.L.1
Robinson, W.P.2
Huang, B.3
Mutirangura, A.4
Line, M.R.5
Nakao, M.6
Surti, U.7
Chakravarti, A.8
Ledbetter, D.H.9
-
30
-
-
0032971379
-
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
-
Christian, S.L., J.A. Fantes, S.K. Mewborn, B. Huang, and D.H. Ledbetter. 1999. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum. Mol. Genet. 8: 1025-1037.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1025-1037
-
-
Christian, S.L.1
Fantes, J.A.2
Mewborn, S.K.3
Huang, B.4
Ledbetter, D.H.5
-
31
-
-
0031573380
-
The telomere-associated DNA from human chromosome 20p contains a pseudotelomere structure and shares sequences with the subtelomeric regions of 4q and 18p
-
Chute, I., Y. Le, T. Ashley, and M.J. Dobson. 1997. The telomere-associated DNA from human chromosome 20p contains a pseudotelomere structure and shares sequences with the subtelomeric regions of 4q and 18p. Genomics 46: 51-60.
-
(1997)
Genomics
, vol.46
, pp. 51-60
-
-
Chute, I.1
Le, Y.2
Ashley, T.3
Dobson, M.J.4
-
32
-
-
0027231008
-
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome
-
Clayton-Smith, J., T. Webb, X.J. Cheng, M.E. Pembrey, and S. Malcolm. 1993a. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J. Med. Genet. 30: 529-531.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 529-531
-
-
Clayton-Smith, J.1
Webb, T.2
Cheng, X.J.3
Pembrey, M.E.4
Malcolm, S.5
-
33
-
-
0027520382
-
Difference in methylation patterns within the D15S9 region of chromosome 15q11-q13 in first cousins with Angelman syndrome and Prader-Willi syndrome
-
Clayton-Smith, J., D.J. Driscoll, M.F. Waters, T. Webb, T. Andrews, S. Malcolm, M.E. Pembrey, and R.D. Nicholls. 1993b. Difference in methylation patterns within the D15S9 region of chromosome 15q11-q13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Am. J. Med. Genet. 47: 683-686.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 683-686
-
-
Clayton-Smith, J.1
Driscoll, D.J.2
Waters, M.F.3
Webb, T.4
Andrews, T.5
Malcolm, S.6
Pembrey, M.E.7
Nicholls, R.D.8
-
34
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook, E.H., Jr., V. Lindgren, B.J. Leventhal, R. Courchesne, A. Lincoln, C. Shulman, C. Lord, and E. Courchesne. 1997. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am. J. Hum. Genet. 60: 928-934.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 928-934
-
-
Cook E.H., Jr.1
Lindgren, V.2
Leventhal, B.J.3
Courchesne, R.4
Lincoln, A.5
Shulman, C.6
Lord, C.7
Courchesne, E.8
-
35
-
-
17344364660
-
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
-
Cook, E.H., Jr., R.Y. Courchesne, N.J. Cox, C. Lord, D. Gonen, S.J. Guter, A. Lincoln, K. Nix, R. Haas, B.L. Leventhal, and E. Courchesne. 1998. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am. J. Hum. Genet. 62: 1077-1083.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1077-1083
-
-
Cook E.H., Jr.1
Courchesne, R.Y.2
Cox, N.J.3
Lord, C.4
Gonen, D.5
Guter, S.J.6
Lincoln, A.7
Nix, K.8
Haas, R.9
Leventhal, B.L.10
Courchesne, E.11
-
36
-
-
0019511103
-
A deletion in chromosome 22 can cause DiGeorge syndrome
-
de la Chapelle, A., R. Herva, M. Koivisto, and P. Aula. 1981. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum. Genet. 57: 253-256.
-
(1981)
Hum. Genet.
, vol.57
, pp. 253-256
-
-
De La Chapelle, A.1
Herva, R.2
Koivisto, M.3
Aula, P.4
-
37
-
-
0033036631
-
Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome
-
DeSilva, U., H. Massa, B.J. Trask, and E.D. Green. 1999. Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome. Genome Res. 9: 428-436.
-
(1999)
Genome Res.
, vol.9
, pp. 428-436
-
-
DeSilva, U.1
Massa, H.2
Trask, B.J.3
Green, E.D.4
-
38
-
-
0034057657
-
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
-
Dorschner, M.O., V.P. Sybert, M. Weaver, B.A. Pletcher, and K. Stephens. 2000. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum. Mol. Genet. 9: 35-46.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 35-46
-
-
Dorschner, M.O.1
Sybert, V.P.2
Weaver, M.3
Pletcher, B.A.4
Stephens, K.5
-
39
-
-
79960655760
-
The DNA sequence of human chromosome 22
-
Dunham, I., N. Shimizu, B.A. Roe, S. Chissoe, A.R. Hunt, J.E. Collins, R. Bruskiewich, D.M. Beare, M. Clamp, L.J. Smink et al. 1999. The DNA sequence of human chromosome 22. Nature 402: 489-495.
-
(1999)
Nature
, vol.402
, pp. 489-495
-
-
Dunham, I.1
Shimizu, N.2
Roe, B.A.3
Chissoe, S.4
Hunt, A.R.5
Collins, J.E.6
Bruskiewich, R.7
Beare, D.M.8
Clamp, M.9
Smink, L.J.10
-
40
-
-
0029831686
-
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
-
Dutly, F. and A. Schinzel. 1996. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum. Mol. Genet. 5: 1893-1898.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1893-1898
-
-
Dutly, F.1
Schinzel, A.2
-
41
-
-
0033358588
-
Low-copy repeats mediate the common 3-Mb deletion in patients with Velo-cardio-facial syndrome
-
Edelmann, L., R.K. Pandita, and B.E. Morrow. 1999a. Low-copy repeats mediate the common 3-Mb deletion in patients with Velo-cardio-facial syndrome. Am. J. Hum. Genet. 64: 1076-1086.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1076-1086
-
-
Edelmann, L.1
Pandita, R.K.2
Morrow, B.E.3
-
42
-
-
0032790898
-
A common molecular basis tor rearrangement disorders on chromosome 22q11
-
Edelmann, L., R.K. Pandita, E. Spiteri, B. Funke, R. Goldberg, N. Palanisamy, R.S. Chaganti, E. Magenis, R.J. Shprintzen, and B.E. Morrow. 1999b. A common molecular basis tor rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 8: 1157-1167.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1157-1167
-
-
Edelmann, L.1
Pandita, R.K.2
Spiteri, E.3
Funke, B.4
Goldberg, R.5
Palanisamy, N.6
Chaganti, R.S.7
Magenis, E.8
Shprintzen, R.J.9
Morrow, B.E.10
-
43
-
-
0033358603
-
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation
-
Edelmann, L., E. Spiteri, N. McCain, R. Goldberg, R.K. Pandita, S. Duong, J. Fox, D. Blumenthal, S.R. Lalani, L.G. Shaffer, and B.E. Morrow. 1999c. A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am. J. Hum. Genet. 651608-1616.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1608-1616
-
-
Edelmann, L.1
Spiteri, E.2
McCain, N.3
Goldberg, R.4
Pandita, R.K.5
Duong, S.6
Fox, J.7
Blumenthal, D.8
Lalani, S.R.9
Shaffer, L.G.10
Morrow, B.E.11
-
44
-
-
0031692007
-
Masquerading repeats: Paralogous pitfalls of the human genome
-
Eichler, E.E. 1998. Masquerading repeats: Paralogous pitfalls of the human genome. Genome Res. 8: 758-762.
-
(1998)
Genome Res.
, vol.8
, pp. 758-762
-
-
Eichler, E.E.1
-
45
-
-
0032922431
-
Repetitive conundrums of centromere structure and function
-
_. 1999. Repetitive conundrums of centromere structure and function. Hum. Mol. Genet. 8: 151-155.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 151-155
-
-
-
46
-
-
8944233367
-
Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution
-
Eichler, E.E., F. Lu, Y. Shen, R. Antonacci, V. Jurecic, N.A. Doggett, R.K. Moyzis, A. Baldini, R.A. Gibbs, and D.L. Nelson. 1996. Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution. Hum. Mol. Genet. 5: 899-912.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 899-912
-
-
Eichler, E.E.1
Lu, F.2
Shen, Y.3
Antonacci, R.4
Jurecic, V.5
Doggett, N.A.6
Moyzis, R.K.7
Baldini, A.8
Gibbs, R.A.9
Nelson, D.L.10
-
47
-
-
0030757906
-
Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity
-
Eichler, E.E., M.L. Budarf, M. Rocchi, L.L. Deaven, N.A. Doggett, A. Baldini, D.L. Nelson, and H.W. Mohrenweiser. 1997. Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity. Hum. Mol. Genet. 6: 991-1002.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 991-1002
-
-
Eichler, E.E.1
Budarf, M.L.2
Rocchi, M.3
Deaven, L.L.4
Doggett, N.A.5
Baldini, A.6
Nelson, D.L.7
Mohrenweiser, H.W.8
-
48
-
-
0032750691
-
CAGGG repeats and the pericentromeric duplication of the hominoid genome
-
Eichler, E.E., N. Archidiacono, and M. Rocchi. 1999. CAGGG repeats and the pericentromeric duplication of the hominoid genome. Genome Res. 9: 1048-1058.
-
(1999)
Genome Res.
, vol.9
, pp. 1048-1058
-
-
Eichler, E.E.1
Archidiacono, N.2
Rocchi, M.3
-
49
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart, A.K., C.A. Morris, D. Atkinson, W. Jin, K. Sternes, P. Spallone, A.D. Stock, M. Leppert, and M.T. Keating. 1993. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat. Genet. 5: 11-16.
-
(1993)
Nat. Genet.
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
Spallone, P.6
Stock, A.D.7
Leppert, M.8
Keating, M.T.9
-
50
-
-
0032837598
-
Williams-Beuren syndrome: Genes and mechanisms
-
Francke, U. 1999. Williams-Beuren syndrome: genes and mechanisms. Hum. Mol. Genet. 8: 1947-1954.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1947-1954
-
-
Francke, U.1
-
51
-
-
0031003646
-
Immunoglobulin lamda light chain orphons on human chromosome 8q11.2
-
Frippiat, J.P., P. Dard, S. Marsh, G. Winter, and M.P. Lefranc. 1997. Immunoglobulin lamda light chain orphons on human chromosome 8q11.2. Eur. J. Immunol. 27: 1260-1265.
-
(1997)
Eur. J. Immunol.
, vol.27
, pp. 1260-1265
-
-
Frippiat, J.P.1
Dard, P.2
Marsh, S.3
Winter, G.4
Lefranc, M.P.5
-
52
-
-
0033361897
-
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11
-
Funke, B., L. Edelmann, N. McCain, R.K. Pandita, J. Ferreira, S. Merscher, M. Zohouri, L. Cannizzaro, A. Shanske, and B.E. Morrow. 1999. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. Am. J. Hum. Genet. 64: 747-758.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 747-758
-
-
Funke, B.1
Edelmann, L.2
McCain, N.3
Pandita, R.K.4
Ferreira, J.5
Merscher, S.6
Zohouri, M.7
Cannizzaro, L.8
Shanske, A.9
Morrow, B.E.10
-
53
-
-
0026347929
-
Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2)
-
Greenberg, F., V. Guzzetta, R. Montes de Oca-Luna, R.E. Magenis, A.C. Smith, S.F. Richter, I. Kondo, W.B. Dobyns, P.I. Patel, and J.R. Lupski. 1991. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 49: 1207-1218.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1207-1218
-
-
Greenberg, F.1
Guzzetta, V.2
Montes De Oca-Luna, R.3
Magenis, R.E.4
Smith, A.C.5
Richter, S.F.6
Kondo, I.7
Dobyns, W.B.8
Patel, P.I.9
Lupski, J.R.10
-
54
-
-
0033521855
-
Recent amplification of the human FRG1 gene during primate evolution
-
Grewal, P.K., M. van Geel, R.R. Frants, P. de Jong, and J.E. Hewitt. 1999. Recent amplification of the human FRG1 gene during primate evolution. Gene 227: 79-88.
-
(1999)
Gene
, vol.227
, pp. 79-88
-
-
Grewal, P.K.1
Van Geel, M.2
Frants, R.R.3
De Jong, P.4
Hewitt, J.E.5
-
55
-
-
0033151942
-
A complete physical contig and partial transcript map of the Williams syndrome critical region
-
Hockenhull, E.L., M.J. Carette, K. Metcalfe, D. Donnai, A.P. Read, and M. Tassabehji. 1999. A complete physical contig and partial transcript map of the Williams syndrome critical region. Genomics 58: 138-145.
-
(1999)
Genomics
, vol.58
, pp. 138-145
-
-
Hockenhull, E.L.1
Carette, M.J.2
Metcalfe, K.3
Donnai, D.4
Read, A.P.5
Tassabehji, M.6
-
56
-
-
0027108731
-
De novo mutation in hereditary motor and sensory neuropathy type I
-
Hoogendijk, J.E., G.W. Hensels, A.A. Gabreels-Festen, F.J. Gabreels, E.A. Janssen, P. de Jonghe, J.J. Martin, C. van Broeckhoven, L.J. Valentijn, F. Baas et al. 1992. De novo mutation in hereditary motor and sensory neuropathy type I. Lancet 339: 1081-1082.
-
(1992)
Lancet
, vol.339
, pp. 1081-1082
-
-
Hoogendijk, J.E.1
Hensels, G.W.2
Gabreels-Festen, A.A.3
Gabreels, F.J.4
Janssen, E.A.5
De Jonghe, P.6
Martin, J.J.7
Van Broeckhoven, C.8
Valentijn, L.J.9
Baas, F.10
-
57
-
-
0034018260
-
Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11
-
Horvath, J.E., L. Viggiano, B.J. Loftus, M.D. Adams, N. Archidiacono, M. Rocchi, and E.E. Eichler. 2000. Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11. Hum. Mol. Genet. 9: 113-123.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 113-123
-
-
Horvath, J.E.1
Viggiano, L.2
Loftus, B.J.3
Adams, M.D.4
Archidiacono, N.5
Rocchi, M.6
Eichler, E.E.7
-
58
-
-
0031060712
-
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
-
Huang, B., J.A. Crolla, S.L. Christian, M.E. Wolf-Ledbetter, M.E. Macha, P.N. Papenhausen, and D.H. Ledbetter. 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum. Genet. 99: 11-17.
-
(1997)
Hum. Genet.
, vol.99
, pp. 11-17
-
-
Huang, B.1
Crolla, J.A.2
Christian, S.L.3
Wolf-Ledbetter, M.E.4
Macha, M.E.5
Papenhausen, P.N.6
Ledbetter, D.H.7
-
59
-
-
0032928889
-
Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications, and unstable sequences with homologies to telomeric and other centromeric locations
-
Jackson, M.S., M. Rocchi, G. Thompson, T. Hearn, M. Crosier, J. Guy, D. Kirk, L. Mulligan, A. Ricco, S. Piccininni et al. 1999a. Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications, and unstable sequences with homologies to telomeric and other centromeric locations. Hum. Mol. Genet. 8: 205-215.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 205-215
-
-
Jackson, M.S.1
Rocchi, M.2
Thompson, G.3
Hearn, T.4
Crosier, M.5
Guy, J.6
Kirk, D.7
Mulligan, L.8
Ricco, A.9
Piccininni, S.10
-
60
-
-
0006214877
-
Characterisation of the heterochromatin/euchromatin boundary at 10q11 and identification of novel transcripts by repeat induced instability
-
Jackson, M., M. Rocchi, T. Hearn, M. Crosier, J. Guy, L. Viggiano, S. Piccininni, A. Ricco, R. Marzella, N. Archidiacono et al. 1999b. Characterisation of the heterochromatin/euchromatin boundary at 10q11 and identification of novel transcripts by repeat induced instability. Am. J. Hum. Genet. 65: A56.
-
(1999)
Am. J. Hum. Genet.
, vol.65
-
-
Jackson, M.1
Rocchi, M.2
Hearn, T.3
Crosier, M.4
Guy, J.5
Viggiano, L.6
Piccininni, S.7
Ricco, A.8
Marzella, R.9
Archidiacono, N.10
-
61
-
-
0033016617
-
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities
-
Ji, Y., M.J. Walkowicz, K. Buiting, D.K. Johnson, R.E. Tarvin, E.M. Rinchik, B. Horsthemke, L. Stubbs, and R.D. Nicholls. 1999. The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum. Mol. Genet. 8: 533-542.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 533-542
-
-
Ji, Y.1
Walkowicz, M.J.2
Buiting, K.3
Johnson, D.K.4
Tarvin, R.E.5
Rinchik, E.M.6
Horsthemke, B.7
Stubbs, L.8
Nicholls, R.D.9
-
62
-
-
0343362695
-
Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human
-
Ji, Y., N.A. Rebert, J.M. Joslin, M.J. Higgins, R.A. Schultz, and R.D. Nicholls. 2000. Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human. Genome Res. 10: 319-329.
-
(2000)
Genome Res.
, vol.10
, pp. 319-329
-
-
Ji, Y.1
Rebert, N.A.2
Joslin, J.M.3
Higgins, M.J.4
Schultz, R.A.5
Nicholls, R.D.6
-
63
-
-
0033358742
-
Genetics of Angelman syndrome
-
Jiang, Y.H., E. Lev-Lehman, J. Bressler, T.F. Tsai, and A.L. Beaudet. 1999. Genetics of Angelman syndrome. Am. J. Hum. Genet. 65: 1-6.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1-6
-
-
Jiang, Y.H.1
Lev-Lehman, E.2
Bressler, J.3
Tsai, T.F.4
Beaudet, A.L.5
-
64
-
-
0029978246
-
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients
-
Juyal, R.C., L.E. Figuera, X. Hauge, S.H. Elsea, J.R. Lupski, F. Greenberg, A. Baldini, and P.I. Patel. 1996. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am. J. Hum. Genet. 58: 998-1007.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 998-1007
-
-
Juyal, R.C.1
Figuera, L.E.2
Hauge, X.3
Elsea, S.H.4
Lupski, J.R.5
Greenberg, F.6
Baldini, A.7
Patel, P.I.8
-
65
-
-
0031419656
-
A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2
-
Kehrer-Sawatzki, H., T. Schwickardt, G. Assum, G. Rocchi, and W. Krone. 1997. A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2. Hum. Genet. 100: 595-600.
-
(1997)
Hum. Genet.
, vol.100
, pp. 595-600
-
-
Kehrer-Sawatzki, H.1
Schwickardt, T.2
Assum, G.3
Rocchi, G.4
Krone, W.5
-
66
-
-
0032784469
-
Molecular evolution of the CMT1A-REP region: A human- and chimpanzee-specific repeat
-
Keller, M.P., B.A. Seifried, and P.F. Chance. 1999. Molecular evolution of the CMT1A-REP region: A human- and chimpanzee-specific repeat. Mol. Biol. Evol. 16: 1019-1026.
-
(1999)
Mol. Biol. Evol.
, vol.16
, pp. 1019-1026
-
-
Keller, M.P.1
Seifried, B.A.2
Chance, P.F.3
-
67
-
-
0029999248
-
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hot spot
-
Kiyosawa, H., and P.F. Chance. 1996. Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hot spot. Hum. Mol. Genet. 5: 745-753.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 745-753
-
-
Kiyosawa, H.1
Chance, P.F.2
-
68
-
-
0028810444
-
Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
-
Kiyosawa, H., M.W. Lensch, and P.F. Chance. 1995. Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. Hum. Mol. Genet. 4: 2327-2334.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2327-2334
-
-
Kiyosawa, H.1
Lensch, M.W.2
Chance, P.F.3
-
69
-
-
9044227270
-
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
-
Konrad, M., S. Saunier, L. Heidet, F. Silbermann, F. Benessy, J. Calado, D. Le Paslier, M. Broyer, M.C. Gubler, and C. Antignac. 1996. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum. Mol. Genet. 5: 367-371.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 367-371
-
-
Konrad, M.1
Saunier, S.2
Heidet, L.3
Silbermann, F.4
Benessy, F.5
Calado, J.6
Le Paslier, D.7
Broyer, M.8
Gubler, M.C.9
Antignac, C.10
-
70
-
-
0033978639
-
A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins
-
Lahn, B.T. and D.C. Page. 2000. A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins. Hum. Mol. Genet. 9: 311-319.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 311-319
-
-
Lahn, B.T.1
Page, D.C.2
-
71
-
-
0027520025
-
Inversions disrupting the factor VIII gene as a common cause of severe haemophilia A
-
Lakich, D., H.H. Jr. Kazazian, S.E. Antonarakis, and J. Gitschier. 1993. Inversions disrupting the factor VIII gene as a common cause of severe haemophilia A. Nat. Genet. 5: 236-241.
-
(1993)
Nat. Genet.
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian H.H., Jr.2
Antonarakis, S.E.3
Gitschier, J.4
-
72
-
-
0028205957
-
Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications
-
Leana-Cox, J., L. Jenkins, C.G. Palmer, R. Plattner, L. Sheppard, W.L. Flejter, J. Zackowski, F. Tsien, and S. Schwartz. 1994. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications. Am. J. Hum. Genet. 54: 748-756.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 748-756
-
-
Leana-Cox, J.1
Jenkins, L.2
Palmer, C.G.3
Plattner, R.4
Sheppard, L.5
Flejter, W.L.6
Zackowski, J.7
Tsien, F.8
Schwartz, S.9
-
73
-
-
0019377986
-
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome
-
Ledbetter, D.H., V.M. Riccardi, S.D. Airhart, R.J. Strobel, B.S. Keenan, and J.D. Crawford. 1981. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. New. Engl. J. Med. 304: 325-329.
-
(1981)
New. Engl. J. Med.
, vol.304
, pp. 325-329
-
-
Ledbetter, D.H.1
Riccardi, V.M.2
Airhart, S.D.3
Strobel, R.J.4
Keenan, B.S.5
Crawford, J.D.6
-
74
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre, S., L. Burglen, S. Reboullet, O. Clermont, P. Burlet, L. Viollet, B. Benichou, C. Cruaud, P. Millasseau, M. Zeviani et al. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
75
-
-
0025118579
-
A transcribed gene in an intron of the human factor VIII gene
-
Levinson, B., S. Kenwrick, D. Lakich, G. Hammonds Jr., and J. Gitschier. 1990. A transcribed gene in an intron of the human factor VIII gene. Genomics 7: 1-11.
-
(1990)
Genomics
, vol.7
, pp. 1-11
-
-
Levinson, B.1
Kenwrick, S.2
Lakich, D.3
Hammonds G., Jr.4
Gitschier, J.5
-
76
-
-
0026548122
-
Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome
-
Li, X.-M., P. Yen, and L. Shapiro. 1992. Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome. Nucleic Acids Res. 20: 1117-1122.
-
(1992)
Nucleic Acids Res.
, vol.20
, pp. 1117-1122
-
-
Li, X.-M.1
Yen, P.2
Shapiro, L.3
-
77
-
-
20244371136
-
Genome duplications and other features in 12 Mbp of DNA sequence from human chromosome 16p and 16q
-
Loftus, B.J., U.-J. Kim, V.P. Sneddon, F. Kalush, R. Brandon, J. Fuhrmann, T. Mason, M. L. Crosby, M. Barnstead, L. Cronin et al. 1999. Genome duplications and other features in 12 Mbp of DNA sequence from human chromosome 16p and 16q. Genomics 60: 295-308.
-
(1999)
Genomics
, vol.60
, pp. 295-308
-
-
Loftus, B.J.1
Kim, U.-J.2
Sneddon, V.P.3
Kalush, F.4
Brandon, R.5
Fuhrmann, J.6
Mason, T.7
Crosby, M.L.8
Barnstead, M.9
Cronin, L.10
-
78
-
-
0031920916
-
Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay
-
Long, F.L., D.P. Duckett, L.J. Billam, D.K. Williams, and J.A. Crolla. 1998. Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J. Med. Genet. 5: 425-428.
-
(1998)
J. Med. Genet.
, vol.5
, pp. 425-428
-
-
Long, F.L.1
Duckett, D.P.2
Billam, L.J.3
Williams, D.K.4
Crolla, J.A.5
-
79
-
-
0029989649
-
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth Type 1A
-
Lopes, J., E. LeGuern, R. Gouider, S. Tardieu, N. Abbas, N. Birouk, M. Gugenheim, P. Bouche, Y. Agid, and A. Brice. 1996. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth Type 1A. Am. J. Hum. Genet. 58: 1223-1230.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1223-1230
-
-
Lopes, J.1
LeGuern, E.2
Gouider, R.3
Tardieu, S.4
Abbas, N.5
Birouk, N.6
Gugenheim, M.7
Bouche, P.8
Agid, Y.9
Brice, A.10
-
80
-
-
84984760579
-
Sex-dependent rearrangements resulting in CMT1A and HNPP
-
Lopes, J., A. Vandenberghe, S. Tardieu, V. Ionasescu, N. Levy, N. Wood, N. Tachi, P. Bouche, P. Latour, A. Brice, and E. LeGuern. 1997. Sex-dependent rearrangements resulting in CMT1A and HNPP. Nat. Genet. 17: 136-137.
-
(1997)
Nat. Genet.
, vol.17
, pp. 136-137
-
-
Lopes, J.1
Vandenberghe, A.2
Tardieu, S.3
Ionasescu, V.4
Levy, N.5
Wood, N.6
Tachi, N.7
Bouche, P.8
Latour, P.9
Brice, A.10
LeGuern, E.11
-
81
-
-
6844239521
-
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination
-
Lopes, J., N. Ravise, A. Vandenberghe, F. Palau, V. Ionasescu, M. Mayer, N. Levy, N. Wood, N. Tachi, P. Bouche et al. 1998. Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum. Mol. Genet. 7: 141-148.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 141-148
-
-
Lopes, J.1
Ravise, N.2
Vandenberghe, A.3
Palau, F.4
Ionasescu, V.5
Mayer, M.6
Levy, N.7
Wood, N.8
Tachi, N.9
Bouche, P.10
-
82
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski, J.R. 1998. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14: 417-422.
-
(1998)
Trends Genet.
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
83
-
-
0031754413
-
Pathological consequences of sequence duplications in the human genome
-
Mazzarella, R. and D. Schlessinger. 1998. Pathological consequences of sequence duplications in the human genome. Genome Res. 8: 1007-1021.
-
(1998)
Genome Res.
, vol.8
, pp. 1007-1021
-
-
Mazzarella, R.1
Schlessinger, D.2
-
84
-
-
0031663725
-
Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
-
McTaggart, K.E., M.L. Budarf, D.A. Driscoll, B.S. Emanuel, P. Ferreira, and H.E. McDermid. 1998. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet. Cell Genet. 81: 222-228.
-
(1998)
Cytogenet. Cell Genet.
, vol.81
, pp. 222-228
-
-
McTaggart, K.E.1
Budarf, M.L.2
Driscoll, D.A.3
Emanuel, B.S.4
Ferreira, P.5
McDermid, H.E.6
-
85
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
Melki, J., S. Lefebvre, L. Burglen, P. Burlet, O. Clermont, P. Millasseau, S. Reboullet, B. Benichou, M. Zeviani, D. Le Paslier et al. 1994. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264: 1474-1477.
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
Lefebvre, S.2
Burglen, L.3
Burlet, P.4
Clermont, O.5
Millasseau, P.6
Reboullet, S.7
Benichou, B.8
Zeviani, M.9
Le Paslier, D.10
-
86
-
-
0029960187
-
Clinical heterogeneity in 16 patients with inv dup 15 chromosomes: Cytogenetic and molecular studies, search for an imprinting effect
-
Mignon, C., P. Malzac, A. Moncla, D. Depetris, N. Roeckel, M.F. Croquette, and M.G. Mattei. 1996. Clinical heterogeneity in 16 patients with inv dup 15 chromosomes: Cytogenetic and molecular studies, search for an imprinting effect. Eur. J. Hum. Genet. 4: 88-100.
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 88-100
-
-
Mignon, C.1
Malzac, P.2
Moncla, A.3
Depetris, D.4
Roeckel, N.5
Croquette, M.F.6
Mattei, M.G.7
-
87
-
-
0033590679
-
Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay
-
Mohandas, T.K., J.P. Park, R.A. Spellman, J.J. Filiano, A.C. Mamourian, A.B. Hawk, D.R. Belloni, W.W. Noll, and J.B. Moeschler. 1999. Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay. Am. J. Med. Genet. 82: 294-300.
-
(1999)
Am. J. Med. Genet.
, vol.82
, pp. 294-300
-
-
Mohandas, T.K.1
Park, J.P.2
Spellman, R.A.3
Filiano, J.J.4
Mamourian, A.C.5
Hawk, A.B.6
Belloni, D.R.7
Noll, W.W.8
Moeschler, J.B.9
-
89
-
-
0027376685
-
Charateristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
-
Naylor, J., A. Brinke, S. Hassock, P.M. Green, and F. Giannelli. 1993. Charateristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum. Mol. Genet. 2: 1773-1778.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1773-1778
-
-
Naylor, J.1
Brinke, A.2
Hassock, S.3
Green, P.M.4
Giannelli, F.5
-
90
-
-
0029047999
-
Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
-
Naylor, J.A., D. Buck, P.M. Green, H. Williamson, D. Bentley, and F. Giannelli. 1995. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum. Mol. Genet. 4: 1217-1224.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1217-1224
-
-
Naylor, J.A.1
Buck, D.2
Green, P.M.3
Williamson, H.4
Bentley, D.5
Giannelli, F.6
-
91
-
-
0029865231
-
A novel DNA inversion causing severe hemophilia A
-
Naylor, J.A., P. Nicholson, A. Goodeve, S. Hassock, I. Peake, and F. Giannelli. 1996. A novel DNA inversion causing severe hemophilia A. Blood 87: 3255-3261.
-
(1996)
Blood
, vol.87
, pp. 3255-3261
-
-
Naylor, J.A.1
Nicholson, P.2
Goodeve, A.3
Hassock, S.4
Peake, I.5
Giannelli, F.6
-
92
-
-
0029863589
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
-
Nelis, E., C. Van Broeckhoven, P. De Jonghe, A. Lofgren, A. Vandenberghe, P. Latour, E. Le Guern, A. Brice, M.L. Mostacciuolo, F. Schiavon et al.. 1996. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study. Eur. J. Hum. Genet. 4: 25-33.
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
De Jonghe, P.3
Lofgren, A.4
Vandenberghe, A.5
Latour, P.6
Le Guern, E.7
Brice, A.8
Mostacciuolo, M.L.9
Schiavon, F.10
-
93
-
-
0032076307
-
Imprinting in Prader-Willi and Angelman syndromes
-
Nicholls, R.D., S. Saitoh, and B. Horsthemke. 1998. Imprinting in Prader-Willi and Angelman syndromes. Trends Genet. 14: 194-200.
-
(1998)
Trends Genet.
, vol.14
, pp. 194-200
-
-
Nicholls, R.D.1
Saitoh, S.2
Horsthemke, B.3
-
94
-
-
0028905182
-
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
-
Nickerson, E., F. Greenberg, M.T. Keating, C. McCaskill, and L.G. Shaffer. 1995. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am. J. Hum. Genet. 56: 1156-1161.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1156-1161
-
-
Nickerson, E.1
Greenberg, F.2
Keating, M.T.3
McCaskill, C.4
Shaffer, L.G.5
-
95
-
-
0030667669
-
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
-
Osborne, L.R., J. Herbrick, T. Greavette, H.H.Q. Heng, L. Tsui, and S.W. Scherer. 1997. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics 45: 402-406.
-
(1997)
Genomics
, vol.45
, pp. 402-406
-
-
Osborne, L.R.1
Herbrick, J.2
Greavette, T.3
Heng, H.H.Q.4
Tsui, L.5
Scherer, S.W.6
-
96
-
-
0031982414
-
Double-strand break-induced recombination in eukaryotes
-
Osman, F., and S. Subramani. 1998. Double-strand break-induced recombination in eukaryotes. Prog. Nucleic Acid Res. Mol. Biol. 58: 263-299.
-
(1998)
Prog. Nucleic Acid Res. Mol. Biol.
, vol.58
, pp. 263-299
-
-
Osman, F.1
Subramani, S.2
-
97
-
-
0027759563
-
Origin of de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal nonsister chromatid exchange during spermatogenesis
-
Palau, F., A. Lofgren, P. De Jonghe, S. Bort, E. Nelis, T. Sevilla, J.J. Martin, J. Vilchez, F. Prieto, and C. Van Broeckhoven. 1993. Origin of de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal nonsister chromatid exchange during spermatogenesis. Hum. Mol. Genet. 2: 2031-2035.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2031-2035
-
-
Palau, F.1
Lofgren, A.2
De Jonghe, P.3
Bort, S.4
Nelis, E.5
Sevilla, T.6
Martin, J.J.7
Vilchez, J.8
Prieto, F.9
Van Broeckhoven, C.10
-
98
-
-
0028231331
-
Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
-
Patel, P.I. and J.R. Lupski. 1994. Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease. Trends Genet. 10: 128-133.
-
(1994)
Trends Genet.
, vol.10
, pp. 128-133
-
-
Patel, P.I.1
Lupski, J.R.2
-
99
-
-
0027017033
-
Charcot-Marie-Tooth type 1A tandem duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
-
Pentao, L., C.A. Wise, A.C. Chinault, P.I. Patel, and J.R. Lupski. 1992. Charcot-Marie-Tooth type 1A tandem duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat. Genet. 2: 292-300.
-
(1992)
Nat. Genet.
, vol.2
, pp. 292-300
-
-
Pentao, L.1
Wise, C.A.2
Chinault, A.C.3
Patel, P.I.4
Lupski, J.R.5
-
100
-
-
0002391264
-
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
-
Perez Jurado, L.A., R. Peoples, P. Kaplan, B.C. Hamel, and U. Francke. 1996. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am. J. Hum. Genet. 59: 781-792.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 781-792
-
-
Perez Jurado, L.A.1
Peoples, R.2
Kaplan, P.3
Hamel, B.C.4
Francke, U.5
-
101
-
-
0031886974
-
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
-
Perez Jurado, L.A., Y. Wang, R. Peoples, A. Coloma, J. Cruces, and U. Francke. 1998. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum. Mol. Genet. 7: 325-334.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 325-334
-
-
Perez Jurado, L.A.1
Wang, Y.2
Peoples, R.3
Coloma, A.4
Cruces, J.5
Francke, U.6
-
102
-
-
0023640088
-
Duplication of proximal 15q as a cause of Prader-Willi syndrome
-
Pettigrew, A.L., S.M. Gollin, F. Greenberg, V.M. Riccardi, and D.H. Ledbetter. 1987. Duplication of proximal 15q as a cause of Prader-Willi syndrome. Am. J. Med. Genet. 28: 791-802.
-
(1987)
Am. J. Med. Genet.
, vol.28
, pp. 791-802
-
-
Pettigrew, A.L.1
Gollin, S.M.2
Greenberg, F.3
Riccardi, V.M.4
Ledbetter, D.H.5
-
103
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2 - The homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki, L., K-S. Chen, S-S. Park, D.E. Osterholm, M.A. Withers, V. Kimonis, A.M. Summers, W.S. Meschino, K. Anyane-Yeboa, C.D. Kashork et al. 2000. Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat. Genet. 24: 84-87.
-
(2000)
Nat. Genet.
, vol.24
, pp. 84-87
-
-
Potocki, L.1
Chen, K.-S.2
Park, S.-S.3
Osterholm, D.E.4
Withers, M.A.5
Kimonis, V.6
Summers, A.M.7
Meschino, W.S.8
Anyane-Yeboa, K.9
Kashork, C.D.10
-
104
-
-
0030929515
-
Recombination hot spots and human disease
-
Purandare, S.M. and P.I. Patel. 1997. Recombination hot spots and human disease. Genome Res. 7: 773-786.
-
(1997)
Genome Res.
, vol.7
, pp. 773-786
-
-
Purandare, S.M.1
Patel, P.I.2
-
105
-
-
0031022190
-
Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition
-
Regnier, V., M. Meddeb, G. Lecointre, F. Richard, A. Duverger, V.C. Nguyen, B. Dutrillaux, A. Bernheim, and G. Danglot. 1997. Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition. Hum. Mol. Genet. 6: 9-16.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 9-16
-
-
Regnier, V.1
Meddeb, M.2
Lecointre, G.3
Richard, F.4
Duverger, A.5
Nguyen, V.C.6
Dutrillaux, B.7
Bernheim, A.8
Danglot, G.9
-
106
-
-
0029962292
-
A recombination hot spot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
-
Reiter, L.T., T. Murakami, T. Koeuth, L. Pentao, D.M. Muzny, R.A. Gibbs, and J.R. Lupski. 1996. A recombination hot spot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat. Genet. 12: 288-297.
-
(1996)
Nat. Genet.
, vol.12
, pp. 288-297
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Pentao, L.4
Muzny, D.M.5
Gibbs, R.A.6
Lupski, J.R.7
-
107
-
-
0030871024
-
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
-
Reiter, L.T., T. Murakami, T. Koeuth, R.A. Gibbs, and J.R. Lupski. 1997. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum. Mol. Genet. 6: 1595-1603.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1595-1603
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Gibbs, R.A.4
Lupski, J.R.5
-
108
-
-
0031972093
-
Human meiotic recombination products revealed by sequencing a hot spot for homologous strand exchange in multiple HNPP deletion patients
-
Reiter, L.T., P.J. Hastings, E. Nelis, P. De Jonghe, C. Van Broeckhoven, and J.R. Lupski. 1998. Human meiotic recombination products revealed by sequencing a hot spot for homologous strand exchange in multiple HNPP deletion patients. Am. J. Hum. Genet. 62: 1023-1033.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1023-1033
-
-
Reiter, L.T.1
Hastings, P.J.2
Nelis, E.3
De Jonghe, P.4
Van Broeckhoven, C.5
Lupski, J.R.6
-
109
-
-
0032169436
-
Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization
-
Repetto, G.M., L.M. White, P.J. Bader, D. Johnson, and J.H.M. Knoll. 1998. Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization. Am. J. Med. Genet. 9: 82-89.
-
(1998)
Am. J. Med. Genet.
, vol.9
, pp. 82-89
-
-
Repetto, G.M.1
White, L.M.2
Bader, P.J.3
Johnson, D.4
Knoll, J.H.M.5
-
110
-
-
0027240268
-
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome
-
Robinson, W.P., J. Wagstaff, F. Bernasconi, C. Baccichetti, L. Artifoni, E. Franzoni, L. Suslak, L.Y. Shih, H. Aviv, and A.A. Schinzel. 1993. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J. Med. Genet. 30: 756-760.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 756-760
-
-
Robinson, W.P.1
Wagstaff, J.2
Bernasconi, F.3
Baccichetti, C.4
Artifoni, L.5
Franzoni, E.6
Suslak, L.7
Shih, L.Y.8
Aviv, H.9
Schinzel, A.A.10
-
111
-
-
0029891886
-
Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion
-
Robinson, W.P., J. Waslynka, F. Bernasconi, M. Wang, S. Clark, D. Kotzot, and A. Schinzel. 1996. Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics 34: 17-23.
-
(1996)
Genomics
, vol.34
, pp. 17-23
-
-
Robinson, W.P.1
Waslynka, J.2
Bernasconi, F.3
Wang, M.4
Clark, S.5
Kotzot, D.6
Schinzel, A.7
-
112
-
-
0031981973
-
The mechanisms involved in formation of deletions and duplications of 15q11-q13
-
Robinson, W.P., F. Dutly, R.D. Nicholls, F. Bernasconi, M. Penaherrera, R.C. Michaelis, D. Abeliovich, and A.A. Schinzel. 1998. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J. Med. Genet. 35: 130-136.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 130-136
-
-
Robinson, W.P.1
Dutly, F.2
Nicholls, R.D.3
Bernasconi, F.4
Penaherrera, M.5
Michaelis, R.C.6
Abeliovich, D.7
Schinzel, A.A.8
-
113
-
-
0028180964
-
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male cells
-
Rossiter, J.P., M. Young, M.L. Kimberland, P. Hutter, R.P. Ketterling, J. Gitschier, J. Horst, M.A. Morris, D. Schaid, P. de Moerloose et al. 1994. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male cells. Hum. Mol. Genet. 3: 1035-1039.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1035-1039
-
-
Rossiter, J.P.1
Young, M.2
Kimberland, M.L.3
Hutter, P.4
Ketterling, R.P.5
Gitschier, J.6
Horst, J.7
Morris, M.A.8
Schaid, D.9
De Moerloose, P.10
-
114
-
-
0027429044
-
The Williams syndrome: Evidence for possible autosomal dominant inheritance
-
Sadler, L.S., L.K. Robinson, K.R. Verdaasdonk, and R. Gingell. 1993. The Williams syndrome: Evidence for possible autosomal dominant inheritance. Am. J. Med. Genet. 47: 468-470.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 468-470
-
-
Sadler, L.S.1
Robinson, L.K.2
Verdaasdonk, K.R.3
Gingell, R.4
-
115
-
-
0031710558
-
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
-
Scharf, J.M., M.G. Endrizzi, A. Wetter, S. Huang, T.G. Thompson, K. Zerres, W.F. Dietrich, B. Wirth, and L.M. Kunkel. 1998. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat. Genet. 20: 83-86.
-
(1998)
Nat. Genet.
, vol.20
, pp. 83-86
-
-
Scharf, J.M.1
Endrizzi, M.G.2
Wetter, A.3
Huang, S.4
Thompson, T.G.5
Zerres, K.6
Dietrich, W.F.7
Wirth, B.8
Kunkel, L.M.9
-
116
-
-
0024025507
-
Analysis of the mechanism for reversion of a disrupted gene
-
Schiestl, R.H., S. Igarashi, and P.J. Hastings. 1988. Analysis of the mechanism for reversion of a disrupted gene. Genetics 119: 237-247.
-
(1988)
Genetics
, vol.119
, pp. 237-247
-
-
Schiestl, R.H.1
Igarashi, S.2
Hastings, P.J.3
-
117
-
-
0028641211
-
Reversion of the mouse pink-eyed unstable mutation induced by low doses of X-rays
-
Schiestl, R.H., F. Khogali, and N. Carls. 1994. Reversion of the mouse pink-eyed unstable mutation induced by low doses of X-rays. Science 266: 1573-1576.
-
(1994)
Science
, vol.266
, pp. 1573-1576
-
-
Schiestl, R.H.1
Khogali, F.2
Carls, N.3
-
118
-
-
0030984540
-
Carcinogens induce reversion of the mouse pink-eyed unstable mutation
-
Schiestl, R.H., J. Aubrecht, F. Khogali, and N. Carls. 1997. Carcinogens induce reversion of the mouse pink-eyed unstable mutation. Proc. Natl. Acad. Sci. 94: 4576-4581.
-
(1997)
Proc. Natl. Acad. Sci.
, vol.94
, pp. 4576-4581
-
-
Schiestl, R.H.1
Aubrecht, J.2
Khogali, F.3
Carls, N.4
-
119
-
-
0019461128
-
The 'cat eye syndrome': Dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture
-
Schinzel, A., W. Schmid, M. Fraccaro, L. Tiepolo, O. Zuffardi, J.M. Opitz, J. Lindsten, P. Zetterqvist, H. Enell, C. Baccichetti et al. 1981. The 'cat eye syndrome': Dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum. Genet. 57: 148-158.
-
(1981)
Hum. Genet.
, vol.57
, pp. 148-158
-
-
Schinzel, A.1
Schmid, W.2
Fraccaro, M.3
Tiepolo, L.4
Zuffardi, O.5
Opitz, J.M.6
Lindsten, J.7
Zetterqvist, P.8
Enell, H.9
Baccichetti, C.10
-
120
-
-
0028081050
-
Intrachromosomal triplication of 15q11-q13
-
Schinzel, A.A., L. Brecevic, F. Bernasconi, F. Binkert, F. Berthet, A. Wuilloud, and W.P. Robinson. 1994. Intrachromosomal triplication of 15q11-q13. J. Med. Genet. 31: 798-803.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 798-803
-
-
Schinzel, A.A.1
Brecevic, L.2
Bernasconi, F.3
Binkert, F.4
Berthet, F.5
Wuilloud, A.6
Robinson, W.P.7
-
121
-
-
0343388516
-
Studies of 'acentric' and 'dicentric' marker chromosomes: Implications for the definition of the functional centromere
-
Schwartz, S., and T.W. Depinet. 1996. Studies of 'acentric' and 'dicentric' marker chromosomes: Implications for the definition of the functional centromere. Am. J. Hum. Genet. (Suppl.) 59: A14.
-
(1996)
Am. J. Hum. Genet. (Suppl.)
, vol.59
-
-
Schwartz, S.1
Depinet, T.W.2
-
122
-
-
0034161932
-
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
-
Shaikh, T.H., H. Kurahashi, S.C. Saitta, A. Mizrahy O'Hare, P. Hu, A.A. Roe, D.A. Driscoll, D.M. McDonald-McGinn, E.H. Zackai, M.L. Budarf, and B.S. Emanuel. 2000. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 9: 489-501.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 489-501
-
-
Shaikh, T.H.1
Kurahashi, H.2
Saitta, S.C.3
Mizrahy O'Hare, A.4
Hu, P.5
Roe, A.A.6
Driscoll, D.A.7
McDonald-McGinn, D.M.8
Zackai, E.H.9
Budarf, M.L.10
Emanuel, B.S.11
-
123
-
-
0031005848
-
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
-
Small, K., J. Iber, and S.T. Warren. 1997. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat. Genet. 16: 96-99.
-
(1997)
Nat. Genet.
, vol.16
, pp. 96-99
-
-
Small, K.1
Iber, J.2
Warren, S.T.3
-
124
-
-
0031785486
-
Occurrence of hemophilia in the United States
-
Soucie, J.M., B. Evatt, D. Jackson, and Hemophilia Surveillance System Project Investigators 1998. Occurrence of hemophilia in the United States. Am. J. Hematol. 59: 288-294.
-
(1998)
Am. J. Hematol.
, vol.59
, pp. 288-294
-
-
Soucie, J.M.1
Evatt, B.2
Jackson, D.3
-
125
-
-
0023507361
-
Paternal hydrocarbon exposure in Prader-Willi syndrome
-
Strakowski, S.M., and M.G. Butler. 1987. Paternal hydrocarbon exposure in Prader-Willi syndrome. Lancet 8573: 1458.
-
(1987)
Lancet
, vol.8573
, pp. 1458
-
-
Strakowski, S.M.1
Butler, M.G.2
-
126
-
-
0028180225
-
Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2
-
Tomlinson, I.M., G.P. Cook, N.P. Carter, R. Elaswarapu, S. Smith, G. Walter, L. Buluwela, T.H. Rabbitts, and G. Winter. 1994. Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2. Hum. Mol. Genet. 3: 853-860.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 853-860
-
-
Tomlinson, I.M.1
Cook, G.P.2
Carter, N.P.3
Elaswarapu, R.4
Smith, S.5
Walter, G.6
Buluwela, L.7
Rabbitts, T.H.8
Winter, G.9
-
127
-
-
6844242311
-
Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
-
Trask, B., C. Friedman, A. Martin-Gallardo, L. Rowen, C. Akinbami, J. Blankenship, C. Collins, D. Giorgi, S. Iadonato, F. Johnson et al. 1998a. Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum. Mol. Genet. 7: 13-26.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 13-26
-
-
Trask, B.1
Friedman, C.2
Martin-Gallardo, A.3
Rowen, L.4
Akinbami, C.5
Blankenship, J.6
Collins, C.7
Giorgi, D.8
Iadonato, S.9
Johnson, F.10
-
128
-
-
7844234750
-
Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome
-
Trask, B.J., H. Massa, V. Brand-Arpon, K. Chan, C. Friedman, O.T. Nguyen, E.E. Eichler, G. van den Engh, S. Rouquier, H. Shizuya, and D. Giorgi. 1998b. Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome. Hum. Mol. Genet. 7: 2007-2020.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 2007-2020
-
-
Trask, B.J.1
Massa, H.2
Brand-Arpon, V.3
Chan, K.4
Friedman, C.5
Nguyen, O.T.6
Eichler, E.E.7
Van Den Engh, G.8
Rouquier, S.9
Shizuya, H.10
Giorgi, D.11
-
129
-
-
0023684936
-
Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology
-
Waldman, A.S. and R.M. Liskay. 1988. Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology. Mol. Cell. Biol. 8 5350-5357.
-
(1988)
Mol. Cell. Biol.
, vol.8
, pp. 5350-5357
-
-
Waldman, A.S.1
Liskay, R.M.2
-
130
-
-
0031946990
-
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
-
Wandstrat, A.E., J. Leana-Cox, L. Jenkins, and S. Schwartz. 1998. Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am. J. Hum. Genet. 62: 925-936.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 925-936
-
-
Wandstrat, A.E.1
Leana-Cox, J.2
Jenkins, L.3
Schwartz, S.4
-
131
-
-
0032792734
-
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
-
Wang M.S., A. Schinzel, D. Kotzot, D. Balmer, R. Casey, B.N. Chodirker, J. Gyftodimou, M.B. Petersen, E. Lopez-Rangel, and W.P. Robinson. 1999. Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am. J. Med. Genet. 86: 34-43.
-
(1999)
Am. J. Med. Genet.
, vol.86
, pp. 34-43
-
-
Wang, M.S.1
Schinzel, A.2
Kotzot, D.3
Balmer, D.4
Casey, R.5
Chodirker, B.N.6
Gyftodimou, J.7
Petersen, M.B.8
Lopez-Rangel, E.9
Robinson, W.P.10
-
132
-
-
0027432332
-
DiGeorge syndrome: Part of CATCH 22
-
Wilson, D.I., J. Burn, P. Scambler, and J. Goodship. 1993. DiGeorge syndrome: Part of CATCH 22. J. Med. Genet. 30: 852-856.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 852-856
-
-
Wilson, D.I.1
Burn, J.2
Scambler, P.3
Goodship, J.4
-
133
-
-
0027374931
-
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication
-
Wise, C.A., C.A. Garcia, S.N. Davis, Z. Heju, L. Pentao, P.I. Patel, and J.R. Lupski. 1993. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am. J. Hum. Genet. 53: 853-863.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
Heju, Z.4
Pentao, L.5
Patel, P.I.6
Lupski, J.R.7
-
134
-
-
0018289752
-
Cytogenetic and clinical studies in five cases of inv dup(15)
-
Wisniewski, L., T. Hassold, J. Heffelfinger, and J.V. Higgins. 1979. Cytogenetic and clinical studies in five cases of inv dup(15). Hum. Genet. 50: 259-270.
-
(1979)
Hum. Genet.
, vol.50
, pp. 259-270
-
-
Wisniewski, L.1
Hassold, T.2
Heffelfinger, J.3
Higgins, J.V.4
-
135
-
-
0025284097
-
A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16
-
Wong, Z., N. Royle, and A. Jeffreys. 1990. A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16. Genomics 7: 222-234.
-
(1990)
Genomics
, vol.7
, pp. 222-234
-
-
Wong, Z.1
Royle, N.2
Jeffreys, A.3
-
136
-
-
0027282551
-
cDNA clones contain autonomous replication activity
-
Wu, C., P. Friedlander, C. Lamoureux, M. Zannis-Hadjopoulos, and G.B. Price. 1993. cDNA clones contain autonomous replication activity. Biochim. Biophys. Acta 1174: 241-257.
-
(1993)
Biochim. Biophys. Acta
, vol.1174
, pp. 241-257
-
-
Wu, C.1
Friedlander, P.2
Lamoureux, C.3
Zannis-Hadjopoulos, M.4
Price, G.B.5
-
137
-
-
0033582626
-
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
-
Yamagishi, H., V. Garg, R. Matsuoka, T. Thomas, and D. Srivastava. 1999. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283: 1158-1161.
-
(1999)
Science
, vol.283
, pp. 1158-1161
-
-
Yamagishi, H.1
Garg, V.2
Matsuoka, R.3
Thomas, T.4
Srivastava, D.5
-
138
-
-
0025280088
-
Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements
-
Yen, P.H., X.M. Li, S.P. Tsai, C. Johnson, T. Mohandas, and L.J. Shapiro. 1990. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61: 603-610.
-
(1990)
Cell
, vol.61
, pp. 603-610
-
-
Yen, P.H.1
Li, X.M.2
Tsai, S.P.3
Johnson, C.4
Mohandas, T.5
Shapiro, L.J.6
-
139
-
-
0026605380
-
Reversion of the hprt mutant clone SP5 by intrachromosomal recombination
-
Zhang, L.H., and D. Jenssen. 1992. Reversion of the hprt mutant clone SP5 by intrachromosomal recombination. Carcinogenesis 13: 609-615.
-
(1992)
Carcinogenesis
, vol.13
, pp. 609-615
-
-
Zhang, L.H.1
Jenssen, D.2
-
140
-
-
0030848807
-
Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans
-
Zimonjic, D., M. Kelley, J. Rubin, S. Aaronson, and N. Popescu. 1997. Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans. Proc. Natl. Acad. Sci. 94: 11461-11465.
-
(1997)
Proc. Natl. Acad. Sci.
, vol.94
, pp. 11461-11465
-
-
Zimonjic, D.1
Kelley, M.2
Rubin, J.3
Aaronson, S.4
Popescu, N.5
|