-
1
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak, M. & Cooper, D.N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86, 425-441 (1991).
-
(1991)
Hum. Genet.
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
2
-
-
0023899705
-
Structural plasmid instability in Bacillus subtilis: Effect of direct and inverted repeats
-
Peelers, B.P.H., de Boer, J.H., Bron, S. & Venema, G. Structural plasmid instability in Bacillus subtilis: effect of direct and inverted repeats. Mol. Gen. Genet. 212, 450-458 (1983).
-
(1983)
Mol. Gen. Genet.
, vol.212
, pp. 450-458
-
-
Peelers, B.P.H.1
De Boer, J.H.2
Bron, S.3
Venema, G.4
-
3
-
-
0024292941
-
Deletion formation in bacteriophage T4
-
Singer, B.S. & Westlye, J. Deletion formation in bacteriophage T4. J. Mol. Biol. 202, 233-243 (1988).
-
(1988)
J. Mol. Biol.
, vol.202
, pp. 233-243
-
-
Singer, B.S.1
Westlye, J.2
-
4
-
-
0026017395
-
Isolation and characterization of Escherichia coll mutants with altered rates of deletion formation
-
Whoriskey, S.K., Schofield, M.A. & Miller, J.H. Isolation and characterization of Escherichia coll mutants with altered rates of deletion formation. Genetics 127, 21-30 (1991).
-
(1991)
Genetics
, vol.127
, pp. 21-30
-
-
Whoriskey, S.K.1
Schofield, M.A.2
Miller, J.H.3
-
5
-
-
0026347929
-
Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2)
-
Greenberg, F. et al. 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).
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1207-1218
-
-
Greenberg, F.1
-
6
-
-
0022543280
-
Interstitial deletion of (17)(p11.2p11.2) in nine patients
-
Smith, A.C.M. et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet. 24, 393-414 (1986).
-
(1986)
Am. J. Med. Genet.
, vol.24
, pp. 393-414
-
-
Smith, A.C.M.1
-
7
-
-
0022477656
-
Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome
-
Stratton, R.F. et al. Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am. J. Med. Genet. 24, 421-432 (1986).
-
(1986)
Am. J. Med. Genet.
, vol.24
, pp. 421-432
-
-
Stratton, R.F.1
-
8
-
-
0029920807
-
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
-
Greenberg, F. et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am. J. Med. Genet. 62, 247-254 (1996).
-
(1996)
Am. J. Med. Genet.
, vol.62
, pp. 247-254
-
-
Greenberg, F.1
-
9
-
-
0000477117
-
The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances
-
Chen, K.-S., Potocki, L. S Lupski, J.R. The Smith-Magenis syndrome [del(17)p11.2]: clinical review and molecular advances. Ment Retard. Dev. Disabil. Res. Rev. 2, 122-129 (1996).
-
(1996)
Ment Retard. Dev. Disabil. Res. Rev.
, vol.2
, pp. 122-129
-
-
Chen, K.-S.1
Potocki, L.S.2
Lupski, J.R.3
-
10
-
-
0026764342
-
Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p
-
Guzzetta, V. et al. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics 13, 551-559 (1992).
-
(1992)
Genomics
, vol.13
, pp. 551-559
-
-
Guzzetta, V.1
-
11
-
-
0029978246
-
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients
-
Juyal, R.C. et al. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am. J. Hum. Genet. 58, 998-1007 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 998-1007
-
-
Juyal, R.C.1
-
12
-
-
10544246897
-
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients
-
Trask, B.J. et al. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum. Genet. 98, 710-718 (1996).
-
(1996)
Hum. Genet.
, vol.98
, pp. 710-718
-
-
Trask, B.J.1
-
13
-
-
0001745242
-
Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
-
eds Seriver, C.R., Beaudet. A.L., Sly, W.S. S Valle, D. McGraw-Hill, New York
-
Ledbetter, D.H. & Ballabio, A. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance, in The Metabolic and Molecular Bases of Inherited Disease, 7th Ed., Vol. 1 (eds Seriver, C.R., Beaudet. A.L., Sly, W.S. S Valle, D.) 811-839 (McGraw-Hill, New York, 1995).
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Ed.
, vol.1
, pp. 811-839
-
-
Ledbetter, D.H.1
Ballabio, A.2
-
14
-
-
0026100465
-
Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction
-
Guzzetta, V., Montes de Oca-Luna, R., Lupski, J.R. & Patel, P.I. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics 9, 31-36 (1991).
-
(1991)
Genomics
, vol.9
, pp. 31-36
-
-
Guzzetta, V.1
Montes De Oca-Luna, R.2
Lupski, J.R.3
Patel, P.I.4
-
15
-
-
0026808763
-
Mapping the whole human genome by fingerprinting yeast artificial chromosomes
-
Bellanné-Chantelot, C. et al. Mapping the whole human genome by fingerprinting yeast artificial chromosomes. Cell 70, 1039-1068 (1992).
-
(1992)
Cell
, vol.70
, pp. 1039-1068
-
-
Bellanné-Chantelot, C.1
-
16
-
-
0025368589
-
Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents
-
Albertsen, H.M. et al. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. USA 87, 4256-4260 (1990).
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 4256-4260
-
-
Albertsen, H.M.1
-
17
-
-
0027942568
-
A comprehensive human linkage map with centimorgan density
-
Murray, J.C. et al. A comprehensive human linkage map with centimorgan density. Science 265, 2049-2054 (1994).
-
(1994)
Science
, vol.265
, pp. 2049-2054
-
-
Murray, J.C.1
-
18
-
-
0025016822
-
Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction
-
Green, E.D. & Oison, M.V. Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl. Acad. Sci. USA 87, 1213-1217 (1990).
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 1213-1217
-
-
Green, E.D.1
Oison, M.V.2
-
19
-
-
0025605095
-
Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR
-
Kwiatkowski, T.J.J., Zoghbi, H.Y., Ledbetter, S.A., Ellison, K.A. & Chinault, A.C. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucleic Adds Res. 18, 7191-7192 (1990).
-
(1990)
Nucleic Adds Res.
, vol.18
, pp. 7191-7192
-
-
Kwiatkowski, T.J.J.1
Zoghbi, H.Y.2
Ledbetter, S.A.3
Ellison, K.A.4
Chinault, A.C.5
-
20
-
-
0026878997
-
Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library
-
Chumakov, I.M. et al. Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library. Nature Genet. 1, 222-225 (1992).
-
(1992)
Nature Genet.
, vol.1
, pp. 222-225
-
-
Chumakov, I.M.1
-
21
-
-
0026738541
-
Continuum of overlapping clones spanning the entire human chromosome 21q
-
Chumakov, I. et al. Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359, 380-387 (1992).
-
(1992)
Nature
, vol.359
, pp. 380-387
-
-
Chumakov, I.1
-
22
-
-
0025630660
-
The 68 kDa protein of signal recognition particle contains a glycine-rich region also found in certain RNA-binding proteins
-
Herz, J., Flint N., Stanley, K., Frank, R. & Dobberstein, B. The 68 kDa protein of signal recognition particle contains a glycine-rich region also found in certain RNA-binding proteins. FEBS Lett 276, 103-107 (1990).
-
(1990)
FEBS Lett
, vol.276
, pp. 103-107
-
-
Herz, J.1
Flint, N.2
Stanley, K.3
Frank, R.4
Dobberstein, B.5
-
23
-
-
0026606319
-
A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells
-
Nakamura, T. et al. A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells. Oncogene 7, 733-741 (1992).
-
(1992)
Oncogene
, vol.7
, pp. 733-741
-
-
Nakamura, T.1
-
24
-
-
0027325844
-
Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions: SnU3 may be a candidate gene for the Smith-Magenis syndrome
-
Chevillard, C. et al. Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions: snU3 may be a candidate gene for the Smith-Magenis syndrome. Hum. Mol. Genet 2, 1235-1243 (1993).
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 1235-1243
-
-
Chevillard, C.1
-
25
-
-
0028201453
-
Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis
-
Kallioniemi, O.-P. et al. Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis. Genomics 20, 125-128 (1994).
-
(1994)
Genomics
, vol.20
, pp. 125-128
-
-
Kallioniemi, O.-P.1
-
26
-
-
0029117957
-
Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries
-
Lee, C.C. et al. Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries. Hum. Mol. Genet 8, 1373-1380 (1995).
-
(1995)
Hum. Mol. Genet
, vol.8
, pp. 1373-1380
-
-
Lee, C.C.1
-
27
-
-
0027515226
-
Coactosin, a 17 kDa F-actin binding protein from Dictyostelium discoideum
-
de Hostos, E.L, Bradtke, B., Lottspeich, F. & Gerisch, G. Coactosin, a 17 kDa F-actin binding protein from Dictyostelium discoideum. Cell. Motil. Cytosfcelefon 26, 181-191 (1993).
-
(1993)
Cell. Motil. Cytosfcelefon
, vol.26
, pp. 181-191
-
-
De Hostos, E.L.1
Bradtke, B.2
Lottspeich, F.3
Gerisch, G.4
-
28
-
-
0027282551
-
cDNA clones contain autonomous replication activity
-
Wu, C., Friedlander, P., Lamoureux, C., Zannis-Hadjopoulos, M. & Price, G.B. cDNA clones contain autonomous replication activity. Biochim. Biophys. Acta 1174, 241-257 (1993).
-
(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
-
29
-
-
0031004203
-
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
-
Shaffer, L.G., Kennedy, G.M., Spikes, A.S. & Lupski, J.R. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am. J. Med. Genet. 69, 325-331 (1997).
-
(1997)
Am. J. Med. Genet.
, vol.69
, pp. 325-331
-
-
Shaffer, L.G.1
Kennedy, G.M.2
Spikes, A.S.3
Lupski, J.R.4
-
30
-
-
0031014667
-
High-resolution deletion mapping of chromosome arm 17p in childhood primitive neuroectodermal tumors reveals a common chromosomal disruption within the Smith-Magenis region, an unstable region in chromosome band 17p11.2
-
Scheurlen, W.G. et al. High-resolution deletion mapping of chromosome arm 17p in childhood primitive neuroectodermal tumors reveals a common chromosomal disruption within the Smith-Magenis region, an unstable region in chromosome band 17p11.2. Genes Chromosomes Cancer 18, 50-58 (1997).
-
(1997)
Genes Chromosomes Cancer
, vol.18
, pp. 50-58
-
-
Scheurlen, W.G.1
-
31
-
-
0031570322
-
Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs
-
Wilgenbus, K.K. et al. Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs. Genomics 42, 1-10 (1997).
-
(1997)
Genomics
, vol.42
, pp. 1-10
-
-
Wilgenbus, K.K.1
-
32
-
-
0026580019
-
A chimaeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
-
Lifton, R.P. et al. A chimaeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355, 262-265 (1992).
-
(1992)
Nature
, vol.355
, pp. 262-265
-
-
Lifton, R.P.1
-
33
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
Melki, J. et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-1477 (1994).
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
-
34
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
Roy, N. et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80, 167-178 (1995).
-
(1995)
Cell
, vol.80
, pp. 167-178
-
-
Roy, N.1
-
35
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre, S.et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165 (1995).
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
-
36
-
-
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., Bardoni, B., Guioli, S., Basler, E. & Camerino, G. 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).
-
(1990)
Genomics
, vol.8
, pp. 263-270
-
-
Ballabio, A.1
Bardoni, B.2
Guioli, S.3
Basler, E.4
Camerino, G.5
-
37
-
-
0025280088
-
Frequent deletions of the human X chromosome distal short arm result form recombination between low copy repetitive elements
-
Yen, P.H. et al. Frequent deletions of the human X chromosome distal short arm result form recombination between low copy repetitive elements. Cell 61, 603-610 (1990).
-
(1990)
Cell
, vol.61
, pp. 603-610
-
-
Yen, P.H.1
-
38
-
-
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., Yen, P.H. & Shapiro, L.J. 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).
-
(1992)
Nucleic Acids Res.
, vol.20
, pp. 1117-1122
-
-
Li, X.-M.1
Yen, P.H.2
Shapiro, L.J.3
-
39
-
-
0022696951
-
Molecular genetics of inherited variation in human color vision
-
Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B. & Hogness, D.S. Molecular genetics of inherited variation in human color vision. Science 232, 203-210 (1986).
-
(1986)
Science
, vol.232
, pp. 203-210
-
-
Nathans, J.1
Piantanida, T.P.2
Eddy, R.L.3
Shows, T.B.4
Hogness, D.S.5
-
40
-
-
0019287863
-
The molecular genetics of human hemoglobins
-
Maniatis, T., Fritsch. E.F., Lauer, J. & Lawn, R.M. The molecular genetics of human hemoglobins. Annu. Rev. Genet 14, 145-178 (1980).
-
(1980)
Annu. Rev. Genet
, vol.14
, pp. 145-178
-
-
Maniatis, T.1
Fritsch, E.F.2
Lauer, J.3
Lawn, R.M.4
-
41
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
-
Lakich, D., Kazazian, H.H., Jr., Antonarakis, S.E. & Gitschier, J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet. 5, 236-241 (1993).
-
(1993)
Nature Genet.
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian Jr., H.H.2
Antonarakis, S.E.3
Gitschier, J.4
-
42
-
-
0029649372
-
Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient
-
Juyal, R.C. et al. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am. J. Med. Genet. 59, 406-407 (1995).
-
(1995)
Am. J. Med. Genet.
, vol.59
, pp. 406-407
-
-
Juyal, R.C.1
-
43
-
-
0029114378
-
Smith-Magenis syndrome deletion: A case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization
-
Juyal, R.C. et al. Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. Am. J. Med. Genet. 58, 286-291 (1995).
-
(1995)
Am. J. Med. Genet.
, vol.58
, pp. 286-291
-
-
Juyal, R.C.1
-
44
-
-
0027381005
-
Clinical, cytogenetic. and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion
-
Zori, R.T. et al. Clinical, cytogenetic. and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am. J. Med. Genet. 47, 504-511 (1993).
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 504-511
-
-
Zori, R.T.1
-
45
-
-
0026763413
-
Homozygous hereditary C3 deficiency due to a partial gene deletion
-
Botto, M. et al. Homozygous hereditary C3 deficiency due to a partial gene deletion. Proc. Natl. Acad. Sci. USA 89, 4957-4961 (1992).
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 4957-4961
-
-
Botto, M.1
-
46
-
-
0023262783
-
Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia
-
Lehrman, M.A., Russell, D.W., Goldstein, J.L. & Brown, M.S. Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J. Biol. Chem. 262, 3354-3361 (1987).
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 3354-3361
-
-
Lehrman, M.A.1
Russell, D.W.2
Goldstein, J.L.3
Brown, M.S.4
-
47
-
-
0021984352
-
Left-handed DNA and the synaptic pairing reaction promoted by Ustilago Rec1 protein
-
Kmiec, E.B., Angelides, K.J. & Holloman, W.K. Left-handed DNA and the synaptic pairing reaction promoted by Ustilago Rec1 protein. Cell 40, 139-145 (1985).
-
(1985)
Cell
, vol.40
, pp. 139-145
-
-
Kmiec, E.B.1
Angelides, K.J.2
Holloman, W.K.3
-
48
-
-
0027017033
-
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
-
Pentao, L., Wise, C.A., Chinault, A.C., Patel, P.I. & Lupski, J.R. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet. 2, 292-300 (1992).
-
(1992)
Nature 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
-
49
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance, P.P. et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet. 3, 223-228 (1994).
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 223-228
-
-
Chance, P.P.1
-
50
-
-
0028610199
-
Molecular genetics of Charcot-Marie-Tooth neuropathy
-
eds Harris, H. & Hirschhorn, K. Plenum, New York
-
Roa, B.B. & Lupski, J.R. Molecular genetics of Charcot-Marie-Tooth neuropathy, in Advances in Human Genetics, Vol. 22 (eds Harris, H. & Hirschhorn, K.) 117-152 (Plenum, New York, 1994).
-
(1994)
Advances in Human Genetics
, vol.22
, pp. 117-152
-
-
Roa, B.B.1
Lupski, J.R.2
-
51
-
-
0029962292
-
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mannertransposon-like element
-
Reiter, LT. et al. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mannertransposon-like element. Nature Genet. 12, 288-297 (1996).
-
(1996)
Nature Genet.
, vol.12
, pp. 288-297
-
-
Reiter, L.T.1
-
52
-
-
9044240859
-
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: A new mechanism for deletion in 17p11.2?
-
LeGuern, E. et al. A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? Hum. Mol. Genet. 5, 103-106 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 103-106
-
-
LeGuern, E.1
-
53
-
-
0028896099
-
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
-
Jones, C. et al. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 376, 145-149 (1995).
-
(1995)
Nature
, vol.376
, pp. 145-149
-
-
Jones, C.1
-
54
-
-
13344249760
-
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
-
Roa, B.B. et al. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Hum. Genet. 97, 642-649 (1996).
-
(1996)
Hum. Genet.
, vol.97
, pp. 642-649
-
-
Roa, B.B.1
-
55
-
-
0030871024
-
The human COX10 gene is disrupted during homologous recombination between the 24-Kb proximal and distal CMT1A-REPs
-
Reiter, L.T., Murakami, T., Koeuth, T., Gibbs, R.A. & Lupski, J.R. 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).
-
(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
-
56
-
-
0027411124
-
Low-copy-number repeat sequences flank the DiGeorge/velocardio-fadal syndrome loci at 22q11
-
Haiford, S. et al. Low-copy-number repeat sequences flank the DiGeorge/velocardio-fadal syndrome loci at 22q11. Hum. Mol. Genet 2, 191-196 (1993).
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 191-196
-
-
Haiford, S.1
-
57
-
-
16944365364
-
An evolutionary conserved gene associated with the common deletion breakpoint regions in the Prader-Willi/Angelman syndromes
-
Ji, Y. et al. An evolutionary conserved gene associated with the common deletion breakpoint regions in the Prader-Willi/Angelman syndromes. Am. J. Hum. Genet. 59, A158 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.59
-
-
Ji, Y.1
-
58
-
-
0029011991
-
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
-
Christian, S.L. et al. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet. 57, 40-48 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 40-48
-
-
Christian, S.L.1
-
59
-
-
0002391264
-
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
-
Pérez Jurado, L.A., Peoples, R., Kaplan, P., Hamel, B.C.J. & Francke, U. 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).
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 781-792
-
-
Pérez Jurado, L.A.1
Peoples, R.2
Kaplan, P.3
Hamel, B.C.J.4
Francke, U.5
-
60
-
-
0025183708
-
Basic local alignment search tool
-
Altschul, S.F., Gish, W, Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403-410 (1990).
-
(1990)
J. Mol. Biol.
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
61
-
-
0024361043
-
High efficiency vectors for cosmid microcloning and genomic analysis
-
Evans, G.A., Lewis, K. & Rothenberg, B.E. High efficiency vectors for cosmid microcloning and genomic analysis. Gene 79, 9-20 (1989).
-
(1989)
Gene
, vol.79
, pp. 9-20
-
-
Evans, G.A.1
Lewis, K.2
Rothenberg, B.E.3
-
62
-
-
0024370486
-
Isolation of single-copy human genes from a library of yeast artificial chromosome clones
-
Brownstein, B.H. et al. Isolation of single-copy human genes from a library of yeast artificial chromosome clones. Science 244, 1348-1351 (1989).
-
(1989)
Science
, vol.244
, pp. 1348-1351
-
-
Brownstein, B.H.1
-
63
-
-
0023691425
-
Genetic applications of an inverse polymerase chain reaction
-
Ochman, H., Gerber, A.S. & Hartl, D.L Genetic applications of an inverse polymerase chain reaction. Genetics 120, 621-623 (1988).
-
(1988)
Genetics
, vol.120
, pp. 621-623
-
-
Ochman, H.1
Gerber, A.S.2
Hartl, D.L.3
-
64
-
-
0026032014
-
Yeast artificial chromosome cloning of a two-megabase-size contig within chromosomal band 18q21 establishes physical linkage between BCL2 and plasminogen activator inhibitor type-2
-
Silverman, G.A. et al. Yeast artificial chromosome cloning of a two-megabase-size contig within chromosomal band 18q21 establishes physical linkage between BCL2 and plasminogen activator inhibitor type-2. Genomics 9, 219-228 (1991).
-
(1991)
Genomics
, vol.9
, pp. 219-228
-
-
Silverman, G.A.1
-
65
-
-
0020793569
-
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
-
Feinberg, A.P. & Vogelstein, B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132, 6-13 (1983).
-
(1983)
Anal. Biochem.
, vol.132
, pp. 6-13
-
-
Feinberg, A.P.1
Vogelstein, B.2
-
66
-
-
0028815790
-
The human homologue of the Drosophila melanogaster flightless-I gene (flif) maps within the Smith-Magenis microdeletion critical region in 17p11.2
-
Chen, K.-S. et al. The human homologue of the Drosophila melanogaster flightless-I gene (flif) maps within the Smith-Magenis microdeletion critical region in 17p11.2, Am. J. Hum. Genet. 56, 175-182 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 175-182
-
-
Chen, K.-S.1
-
67
-
-
0023464294
-
Regional mapping panel for human chromosome 17: Application to neurofibromatosis type 1
-
van Tuinen, P., Rich, D.C., Summers, K.M. & Ledbetter, D.H. Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics 1, 374-381 (1987).
-
(1987)
Genomics
, vol.1
, pp. 374-381
-
-
Tuinen, P.1
Rich, D.C.2
Summers, K.M.3
Ledbetter, D.H.4
-
68
-
-
0021940415
-
Unbalanced translocation (15;17)(q13;p13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome
-
Elder, F.F.B., Nichols, M.M., Hood, O.J. & Harrison, W.R. III. Unbalanced translocation (15;17)(q13;p13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome. Am. J. Med. Genet. 20, 519-524 (1985).
-
(1985)
Am. J. Med. Genet.
, vol.20
, pp. 519-524
-
-
Elder, F.F.B.1
Nichols, M.M.2
Hood, O.J.3
Harrison III, W.R.4
-
69
-
-
0027489565
-
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A
-
Roa, B.B. et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet 5, 189-194 (1993).
-
(1993)
Nature Genet
, vol.5
, pp. 189-194
-
-
Roa, B.B.1
-
70
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay, G. et al. The 1993-94 Généthon human genetic linkage map. Nature Genet. 7, 246-249 (1994).
-
(1994)
Nature Genet.
, vol.7
, pp. 246-249
-
-
Gyapay, G.1
-
71
-
-
0028343233
-
Automated construction of genetic linkage maps using an expert system (MultiMap): A human genome linkage map
-
Matise, T.C., Perlin, M. & Chakravarti, A. Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nature Genet. 6, 384-390 (1994).
-
(1994)
Nature Genet.
, vol.6
, pp. 384-390
-
-
Matise, T.C.1
Perlin, M.2
Chakravarti, A.3
-
72
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794-801 (1992).
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
-
73
-
-
0028782810
-
Human genetic map; genome maps V: Wall chart
-
Buetow, K.H. et al. Human genetic map; genome maps V: wall chart. Science 265, 2055-2070 (1994).
-
(1994)
Science
, vol.265
, pp. 2055-2070
-
-
Buetow, K.H.1
-
74
-
-
0028907946
-
Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybrids
-
Townsend-Nicholson, A., Baker, E., Sutherland, G.R. & Schofield, P.R. Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybrids. Genomics 25, 605-607 (1995).
-
(1995)
Genomics
, vol.25
, pp. 605-607
-
-
Townsend-Nicholson, A.1
Baker, E.2
Sutherland, G.R.3
Schofield, P.R.4
-
75
-
-
0028960739
-
Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13
-
Hua, X., Wu, J., Goldstein, J.L., Brown, M.S. & Hobbs, H.H. Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13. Genomics 25, 667-673 (1995).
-
(1995)
Genomics
, vol.25
, pp. 667-673
-
-
Hua, X.1
Wu, J.2
Goldstein, J.L.3
Brown, M.S.4
Hobbs, H.H.5
-
76
-
-
0031570341
-
Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: Overlap with LLGL
-
Campbell, H.D. et al. Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. Genomics 42, 46-54 (1997).
-
(1997)
Genomics
, vol.42
, pp. 46-54
-
-
Campbell, H.D.1
-
77
-
-
0030067218
-
The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2
-
Koyama, K. et al. The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. Cytogenet. Cell Genet. 72, 78-32 (1996).
-
(1996)
Cytogenet. Cell Genet.
, vol.72
, pp. 78-132
-
-
Koyama, K.1
-
78
-
-
0028875314
-
Haploinsuff iciency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome
-
Elsea, S.H. et al. Haploinsuff iciency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am. J. Hum. Genet. 57, 1342-1350 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1342-1350
-
-
Elsea, S.H.1
-
79
-
-
0028987799
-
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients
-
Zhao, Z. et al. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum. Mot. Genet. 4, 589-597 (1995).
-
(1995)
Hum. Mot. Genet.
, vol.4
, pp. 589-597
-
-
Zhao, Z.1
-
80
-
-
0029972575
-
Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family
-
Matsuda, Y. et al. Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family. Genomics 33, 325-327 (1996).
-
(1996)
Genomics
, vol.33
, pp. 325-327
-
-
Matsuda, Y.1
-
81
-
-
17544401744
-
The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2
-
Kimura, T. et al. The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2. Am. J. Med. Genet. 69, 320-324 (1997).
-
(1997)
Am. J. Med. Genet.
, vol.69
, pp. 320-324
-
-
Kimura, T.1
-
82
-
-
0028985563
-
Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13
-
Hiraoka, L.R., Hsu, L. & Hsieh, C.-L. Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13. Genomics 25, 323-325 (1995).
-
(1995)
Genomics
, vol.25
, pp. 323-325
-
-
Hiraoka, L.R.1
Hsu, L.2
Hsieh, C.-L.3
-
83
-
-
0029664636
-
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
-
De Laurenzi, V. et al. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nature Genet 12, 52-57 (1996).
-
(1996)
Nature Genet
, vol.12
, pp. 52-57
-
-
De Laurenzi, V.1
|