-
1
-
-
0025318743
-
The human genome project: Past, present and future
-
Watson JD. The human genome project: past, present and future. Science 1990; 248: 44-9.
-
(1990)
Science
, vol.248
, pp. 44-49
-
-
Watson, J.D.1
-
2
-
-
0022494269
-
Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location
-
Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL et al. Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location. Nature 1986; 322: 32-8.
-
(1986)
Nature
, vol.322
, pp. 32-38
-
-
Royer-Pokora, B.1
Kunkel, L.M.2
Monaco, A.P.3
Goff, S.C.4
Newburger, P.E.5
Baehner, R.L.6
-
3
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1986; 245: 1059-65.
-
(1986)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.3
Drumm, M.L.4
Melmer, G.5
Dean, M.6
-
4
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-80.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
-
5
-
-
0022496289
-
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
-
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 1986; 323: 646-50.
-
(1986)
Nature
, vol.323
, pp. 646-650
-
-
Monaco, A.P.1
Neve, R.L.2
Colletti-Feener, C.3
Bertelson, C.J.4
Kurnit, D.M.5
Kunkel, L.M.6
-
6
-
-
0022506980
-
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
-
Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986; 323: 643-6.
-
(1986)
Nature
, vol.323
, pp. 643-646
-
-
Friend, S.H.1
Bernards, R.2
Rogelj, S.3
Weinberg, R.A.4
Rapaport, J.M.5
Albert, D.M.6
-
7
-
-
0026849567
-
Positional cloning: Let's not call it reverse anymore
-
Collins FS. Positional cloning: let's not call it reverse anymore. Nat Genet 1992; 1: 3-6.
-
(1992)
Nat Genet
, vol.1
, pp. 3-6
-
-
Collins, F.S.1
-
8
-
-
0035171077
-
HUNT: Launch of a full-length cDNA database from the Helix Research Institute
-
Yudate HT, Suwa M, Irie R, Matsui H, Nishikawa T, Nakamura Y et al. HUNT: launch of a full-length cDNA database from the Helix Research Institute. Nucl Acids Res 2001; 29: 185-8.
-
(2001)
Nucl Acids Res
, vol.29
, pp. 185-188
-
-
Yudate, H.T.1
Suwa, M.2
Irie, R.3
Matsui, H.4
Nishikawa, T.5
Nakamura, Y.6
-
9
-
-
0142104045
-
Analysis of the mouse transcriptome based on functional annotation of 60 770 full-length cDNAs
-
The FANTOM Consortium and Genome Exploration Research Group Phase I and II Team. Analysis of the mouse transcriptome based on functional annotation of 60 770 full-length cDNAs. Nature 2002; 420: 563-73.
-
(2002)
Nature
, vol.420
, pp. 563-573
-
-
-
10
-
-
0028907339
-
Positional cloning moves from perditional to traditional
-
Collins FS. Positional cloning moves from perditional to traditional. Nat Genet 1995; 9: 347-50.
-
(1995)
Nat Genet
, vol.9
, pp. 347-350
-
-
Collins, F.S.1
-
11
-
-
0035943403
-
A comparison of the Celera and Ensembl predicted gene sets reveals little overlap in novel genes
-
Hogenesch JB, Ching KA, Batalov S, Su AI, Walker JR, Zhou Y et al. A comparison of the Celera and Ensembl predicted gene sets reveals little overlap in novel genes. Cell 2001; 106: 413-15.
-
(2001)
Cell
, vol.106
, pp. 413-415
-
-
Hogenesch, J.B.1
Ching, K.A.2
Batalov, S.3
Su, A.I.4
Walker, J.R.5
Zhou, Y.6
-
12
-
-
1942425396
-
-
National Center for Biotechnology Information (NCBI). NCBI Home Page. [cited April 2002]. Available from: URL: http:// www.ncbi.nih.gov/BLAST
-
NCBI Home Page
-
-
-
13
-
-
1942489412
-
-
GoldenPath sequences 22 Dec version
-
University of California, Santa Cruz (UCSC). UCSC Genome Bioinformatics Home Page. GoldenPath sequences 22 Dec 2001 version. [cited April 2002]. Available from: URL: http:// genome.ucsc.edu/downloads.html
-
(2001)
UCSC Genome Bioinformatics Home Page
-
-
-
14
-
-
17944376461
-
Computational analysis of full-length mouse cDNAs compared with human genome sequences
-
Kondo S, Shinagawa A, Saito T, Kiyosawa H, Yamanaka I, Aizawa K et al. Computational analysis of full-length mouse cDNAs compared with human genome sequences. Mamm Genome 2001; 12: 673-7.
-
(2001)
Mamm Genome
, vol.12
, pp. 673-677
-
-
Kondo, S.1
Shinagawa, A.2
Saito, T.3
Kiyosawa, H.4
Yamanaka, I.5
Aizawa, K.6
-
15
-
-
1942489586
-
Introduction of RIKEN-GenoMapper, mapping viewer system
-
Kiyosawa H, Kawashima T, Hasegawa Y, Yamanaka I, Sakai K, Kondo S et al. Introduction of RIKEN-GenoMapper, mapping viewer system. Genome Res 2003; 13: 1554-5.
-
(2003)
Genome Res
, vol.13
, pp. 1554-1555
-
-
Kiyosawa, H.1
Kawashima, T.2
Hasegawa, Y.3
Yamanaka, I.4
Sakai, K.5
Kondo, S.6
-
17
-
-
0031586003
-
Prediction of complete gene structures in human genomic DNA
-
Burge C, Karlin S. Prediction of complete gene structures in human genomic DNA. J Mol Biol 1997; 268: 78-94.
-
(1997)
J Mol Biol
, vol.268
, pp. 78-94
-
-
Burge, C.1
Karlin, S.2
-
18
-
-
1942489587
-
-
http://www.softberry.com/berry.phtml
-
Sanger Institute. Fgenesh Home Page. [cited April 2002 from: URL: http://genomic.sanger.ac.uk/]. Now available from: URL: http://www.softberry. com/berry.phtml
-
Fgenesh Home Page
-
-
-
20
-
-
1942457155
-
-
National Center for Biotechnology Information. LocusLink Home Page. [cited October 2003]. Available from: URL: http:// www.ncbi.nlm.nih.gov/ LocusLink/
-
LocusLink Home Page
-
-
-
21
-
-
0032858272
-
Linkage disequilibrium in the 13q12 region in Finnish late-onset Alzheimer's disease patients
-
Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Helisalmi S, Ryynanen M et al. Linkage disequilibrium in the 13q12 region in Finnish late-onset Alzheimer's disease patients. Eur J Hum Genet 1999; 7: 652-8.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 652-658
-
-
Hiltunen, M.1
Mannermaa, A.2
Koivisto, A.M.3
Lehtovirta, M.4
Helisalmi, S.5
Ryynanen, M.6
-
22
-
-
0034279413
-
A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34
-
Blair IP, Bennett CL, Abel A, Rabin BA, Griffin JW, Fischbeck KH et al. A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34. Neurogenetics 2000; 3: 1-6.
-
(2000)
Neurogenetics
, vol.3
, pp. 1-6
-
-
Blair, I.P.1
Bennett, C.L.2
Abel, A.3
Rabin, B.A.4
Griffin, J.W.5
Fischbeck, K.H.6
-
23
-
-
0035935634
-
Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter
-
Tanamy MG, Magal N, Halpern GJ, Jaber L, Shohart M. Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter. Am J Med Genet 2001; 104: 152-6.
-
(2001)
Am J Med Genet
, vol.104
, pp. 152-156
-
-
Tanamy, M.G.1
Magal, N.2
Halpern, G.J.3
Jaber, L.4
Shohart, M.5
-
24
-
-
0031570685
-
Cloning and gene mapping of the chromosome 13q14 region deleted in chronic lymphocytic leukaemia
-
Kalachikov S, Migliazza A, Cayanis E, Fracchiolla NS, Bonaldo MF, Lawton L et al. Cloning and gene mapping of the chromosome 13q14 region deleted in chronic lymphocytic leukaemia. Genomics 1997; 42: 369-77.
-
(1997)
Genomics
, vol.42
, pp. 369-377
-
-
Kalachikov, S.1
Migliazza, A.2
Cayanis, E.3
Fracchiolla, N.S.4
Bonaldo, M.F.5
Lawton, L.6
-
25
-
-
0034987775
-
Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity
-
Malacarne M, Gennaro E, Madia F, Pozzi S, Vacca D, Barone B et al. Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Am J Hum Genet 2001; 68: 1521-6.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1521-1526
-
-
Malacarne, M.1
Gennaro, E.2
Madia, F.3
Pozzi, S.4
Vacca, D.5
Barone, B.6
-
26
-
-
0031663725
-
Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
-
McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE. Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet 1998; 81: 222-8.
-
(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
-
27
-
-
0032529036
-
Mapping an endometrial cancer tumor suppressor gene at 10q25 and development of a bacterial clone clontig for the consensus deletion interval
-
Peiffer-Schneider S, Noonan FC, Mutch DG, Simpkins SB, Herzog T, Rader J et al. Mapping an endometrial cancer tumor suppressor gene at 10q25 and development of a bacterial clone clontig for the consensus deletion interval. Genomics 1998; 52: 9-16.
-
(1998)
Genomics
, vol.52
, pp. 9-16
-
-
Peiffer-Schneider, S.1
Noonan, F.C.2
Mutch, D.G.3
Simpkins, S.B.4
Herzog, T.5
Rader, J.6
-
28
-
-
0035009794
-
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: Molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM
-
Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM et al. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet 2001; 108: 398-403.
-
(2001)
Hum Genet
, vol.108
, pp. 398-403
-
-
Rickard, S.1
Parker, M.2
Van't Hoff, W.3
Barnicoat, A.4
Russell-Eggitt, I.5
Winter, R.M.6
-
29
-
-
0034636165
-
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
-
Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R et al. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 2000; 54: 1408-14.
-
(2000)
Neurology
, vol.54
, pp. 1408-1414
-
-
Mrissa, N.1
Belal, S.2
Hamida, C.B.3
Amouri, R.4
Turki, I.5
Mrissa, R.6
-
30
-
-
0028897283
-
An analysis of fetal hemoglobin variation in sickle cell disease: The relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender and age
-
Chang YC, Smith KD, Moore RD, Serjeant GR, Dover GJ. An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender and age. Blood 1995; 85: 1111-7.
-
(1995)
Blood
, vol.85
, pp. 1111-1117
-
-
Chang, Y.C.1
Smith, K.D.2
Moore, R.D.3
Serjeant, G.R.4
Dover, G.J.5
-
31
-
-
0033304849
-
Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases; evidence for genetic heterogeneity and gene interactions
-
Tomer Y, Barbesino G, Greenberg DA, Concepcion E, Davies TF. Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases; evidence for genetic heterogeneity and gene interactions. J Clin Endocrinol Metab 1999; 84: 4656-64.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4656-4664
-
-
Tomer, Y.1
Barbesino, G.2
Greenberg, D.A.3
Concepcion, E.4
Davies, T.F.5
-
32
-
-
0033361898
-
Assignment of the locus for hydrolethalus syndome to a highly restricted region on 11q23-25
-
Visapaa I, Salonen R, Varilo T, Paavola P, Peltonen L. Assignment of the locus for hydrolethalus syndome to a highly restricted region on 11q23-25. Am J Hum Genet 1999; 65: 1086-95.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1086-1095
-
-
Visapaa, I.1
Salonen, R.2
Varilo, T.3
Paavola, P.4
Peltonen, L.5
-
33
-
-
0033669436
-
A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12
-
Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S et al. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Ann Neurol 2000; 48: 877-84.
-
(2000)
Ann Neurol
, vol.48
, pp. 877-884
-
-
Christodoulou, K.1
Zamba, E.2
Tsingis, M.3
Mubaidin, A.4
Horani, K.5
Abu-Sheik, S.6
-
34
-
-
0002874089
-
A distinct tumor suppressor gene locus on chromosome 15q21.1 in sporadic form of colorectal cancer
-
Park WS, Park JY, Oh RR, Yoo NJ, Lee SH, Shin MS et al. A distinct tumor suppressor gene locus on chromosome 15q21.1 in sporadic form of colorectal cancer. Cancer Res 2000; 60: 70-3.
-
(2000)
Cancer Res
, vol.60
, pp. 70-73
-
-
Park, W.S.1
Park, J.Y.2
Oh, R.R.3
Yoo, N.J.4
Lee, S.H.5
Shin, M.S.6
-
35
-
-
0034785352
-
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
-
Rioux JD, Daly MJ, Silverberg MS, Lindblad K, Steinhart H, Cohen Z et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 2001; 29: 223-8.
-
(2001)
Nat Genet
, vol.29
, pp. 223-228
-
-
Rioux, J.D.1
Daly, M.J.2
Silverberg, M.S.3
Lindblad, K.4
Steinhart, H.5
Cohen, Z.6
-
36
-
-
17344376439
-
Linkage and linkage disequilibrium in chromosome band 1p36 in American Chaldeans with inflammatory bowel disease
-
Cho JH, Nicolae DL, Ramos R, Fields CT, Rabenau K, Corradino S et al. Linkage and linkage disequilibrium in chromosome band 1p36 in American Chaldeans with inflammatory bowel disease. Hum Mol Genet 2000; 9: 1425-32.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1425-1432
-
-
Cho, J.H.1
Nicolae, D.L.2
Ramos, R.3
Fields, C.T.4
Rabenau, K.5
Corradino, S.6
-
37
-
-
0031568287
-
Toward cloning of a novel ataxia gene: Refined assignment and physical map of the IOSCa locus (SCA8) on 10q24
-
Nikali K, Isosomppi J, Lonnqvist T, Mao JI, Suomalainen A, Peltonen L. Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 1997; 39: 185-91.
-
(1997)
Genomics
, vol.39
, pp. 185-191
-
-
Nikali, K.1
Isosomppi, J.2
Lonnqvist, T.3
Mao, J.I.4
Suomalainen, A.5
Peltonen, L.6
-
38
-
-
0031428019
-
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: Refinement of gene localization and evidence of genetic heterogeneity
-
Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA et al. Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence of genetic heterogeneity. Hum Genet 1997; 100: 520-4.
-
(1997)
Hum Genet
, vol.100
, pp. 520-524
-
-
Oosterwijk, J.C.1
Richard, G.2
Van Der Wielen, M.J.3
Van De Vosse, E.4
Harth, W.5
Sandkuijl, L.A.6
-
39
-
-
1642633543
-
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34 by genome scan using five affected individuals
-
Makela-Bengs P, Jarvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipila M et al. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34 by genome scan using five affected individuals. Am J Hum Genet 1998; 63: 506-16.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 506-516
-
-
Makela-Bengs, P.1
Jarvinen, N.2
Vuopala, K.3
Suomalainen, A.4
Ignatius, J.5
Sipila, M.6
-
40
-
-
0035136835
-
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
-
Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B et al. Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. J Med Genet 2001; 38: 35-8.
-
(2001)
J Med Genet
, vol.38
, pp. 35-38
-
-
Coupry, I.1
Taine, L.2
Goizet, C.3
Soriano, C.4
Mortemousque, B.5
Arveiler, B.6
-
41
-
-
0033773032
-
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3
-
Sangiuolo F, Bruscia E, Capon F, Servidei S, Dallapiccola B, Novelli G. Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. Eur J Hum Genet 2000; 8: 809-12.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 809-812
-
-
Sangiuolo, F.1
Bruscia, E.2
Capon, F.3
Servidei, S.4
Dallapiccola, B.5
Novelli, G.6
-
42
-
-
0028929891
-
Mapping a further malignant hyperthermia susceptibility locus to chromosome 3q13.1
-
Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, van Broeckhoven C et al. Mapping a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J hum genet 1995; 56: 684-91.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 684-691
-
-
Sudbrak, R.1
Procaccio, V.2
Klausnitzer, M.3
Curran, J.L.4
Monsieurs, K.5
Van Broeckhoven, C.6
-
43
-
-
0032921638
-
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23
-
Paavola P, Avela K, Horelli-Kuitunen N, Barlund M, Kallioniemi A, Idanheimo N et al. High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. Genome Res 1999; 9: 267-76.
-
(1999)
Genome Res
, vol.9
, pp. 267-276
-
-
Paavola, P.1
Avela, K.2
Horelli-Kuitunen, N.3
Barlund, M.4
Kallioniemi, A.5
Idanheimo, N.6
-
44
-
-
0032231917
-
A gene for Meckel syndrome maps to chromosome 11q13
-
Roume J, Genin E, Cormier-Daire V, Ma HW, Mehaye B, Attie T et al. A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet 1998; 63: 1095-101.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1095-1101
-
-
Roume, J.1
Genin, E.2
Cormier-Daire, V.3
Ma, H.W.4
Mehaye, B.5
Attie, T.6
-
45
-
-
0034235673
-
Refinement of the smallest commonly deleted segment of chromosome 20 in malignant myeloid diseases and development of a PAC-based physical and transcription map
-
Wang PW, Eisenbart JD, Espinosa R III, Davis EM, Larson RA, Le Beau MM. Refinement of the smallest commonly deleted segment of chromosome 20 in malignant myeloid diseases and development of a PAC-based physical and transcription map. Genomics 2000; 67: 28-39.
-
(2000)
Genomics
, vol.67
, pp. 28-39
-
-
Wang, P.W.1
Eisenbart, J.D.2
Espinosa III, R.3
Davis, E.M.4
Larson, R.A.5
Le Beau, M.M.6
-
46
-
-
0036488032
-
Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families
-
Watts GD, O'Briant KC, Chance PF. Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families. Hum Genet 2002; 110: 166-72.
-
(2002)
Hum Genet
, vol.110
, pp. 166-172
-
-
Watts, G.D.1
O'Briant, K.C.2
Chance, P.F.3
-
47
-
-
18544377051
-
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
-
Toutain A, Dessay B, Ronce N, Ferrante MI, Tranchemontagne J, Newbury-Ecob R et al. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. Eur J Hum Genet 2002; 10: 516-20.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 516-520
-
-
Toutain, A.1
Dessay, B.2
Ronce, N.3
Ferrante, M.I.4
Tranchemontagne, J.5
Newbury-Ecob, R.6
-
48
-
-
0033847004
-
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23
-
Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I et al. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet 2000; 67: 664-71.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 664-671
-
-
Rogers, T.1
Chandler, D.2
Angelicheva, D.3
Thomas, P.K.4
Youl, B.5
Tournev, I.6
-
49
-
-
0033044278
-
Linkage disequilibrium mapping of Nova Scotia variant of Niemann-Pick disease
-
Greer WL, Riddell DC, Murty S, Gillan TL, Girouard GS, Sparrow SM et al. Linkage disequilibrium mapping of Nova Scotia variant of Niemann-Pick disease. Clin Genet 1999; 55: 248-55.
-
(1999)
Clin Genet
, vol.55
, pp. 248-255
-
-
Greer, W.L.1
Riddell, D.C.2
Murty, S.3
Gillan, T.L.4
Girouard, G.S.5
Sparrow, S.M.6
-
50
-
-
0034105691
-
Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34
-
Luo J, Stewart JF, Sarwark JF, Charrow J, Nye JS. Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. Am J Med genet 2000; 91: 227-30.
-
(2000)
Am J Med Genet
, vol.91
, pp. 227-230
-
-
Luo, J.1
Stewart, J.F.2
Sarwark, J.F.3
Charrow, J.4
Nye, J.S.5
-
51
-
-
0034994054
-
Frequent loss of heterozygosity at 3p25-p26 is associated with invasive oral squamous cell carcinoma
-
Kayahara H, Yamagata H, Tanioka H, Miki T, Hamakawa H. Frequent loss of heterozygosity at 3p25-p26 is associated with invasive oral squamous cell carcinoma. J Hum Genet 2001; 46: 335-41.
-
(2001)
J Hum Genet
, vol.46
, pp. 335-341
-
-
Kayahara, H.1
Yamagata, H.2
Tanioka, H.3
Miki, T.4
Hamakawa, H.5
-
52
-
-
0033391633
-
Mapping the papillary renal cell carcinoma gene between loci D17S787 and D17S1799 on chromosome 17q21.32
-
Balint I, Fischer J, Ljungberg B, Kovacs G. Mapping the papillary renal cell carcinoma gene between loci D17S787 and D17S1799 on chromosome 17q21.32. Lab Invest 1999; 79: 1713-18.
-
(1999)
Lab Invest
, vol.79
, pp. 1713-1718
-
-
Balint, I.1
Fischer, J.2
Ljungberg, B.3
Kovacs, G.4
-
53
-
-
0034729376
-
Genetic fine mapping of the gene for nonsyndromic congenital retinal nonattachment
-
Ghiasvand NM, Fleming TP, Helms C, Avisa A, Donis-Keller H. Genetic fine mapping of the gene for nonsyndromic congenital retinal nonattachment. Am J Med Genet 2000; 92: 220-23.
-
(2000)
Am J Med Genet
, vol.92
, pp. 220-223
-
-
Ghiasvand, N.M.1
Fleming, T.P.2
Helms, C.3
Avisa, A.4
Donis-Keller, H.5
-
54
-
-
0032959461
-
Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin
-
Bardien-Kruger S, Greenberg J, Tubb B, Bryan J, Queimado L, Lovett M et al. Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin. Eur J Hum Genet 1999; 7: 332-8.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 332-338
-
-
Bardien-Kruger, S.1
Greenberg, J.2
Tubb, B.3
Bryan, J.4
Queimado, L.5
Lovett, M.6
-
55
-
-
15844403608
-
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)
-
Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC et al. Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). Hum Mol Genet 1996; 5: 857-60.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 857-860
-
-
Kelsell, D.P.1
Risk, J.M.2
Leigh, I.M.3
Stevens, H.P.4
Ellis, A.5
Hennies, H.C.6
-
56
-
-
0033135510
-
A physical and transcriptional map of the preaxial polydactyl locus on chromosome 7q36
-
Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC et al. A physical and transcriptional map of the preaxial polydactyl locus on chromosome 7q36. genomics 1999; 57: 342-51.
-
(1999)
Genomics
, vol.57
, pp. 342-351
-
-
Heus, H.C.1
Hing, A.2
Van Baren, M.J.3
Joosse, M.4
Breedveld, G.J.5
Wang, J.C.6
-
57
-
-
0344995248
-
Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb)
-
Wang CY, Shi JD, Huang YQ, Cruz PE, Ochoa B, Hawkins-Lee B et al. Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb). Genomics 1999; 60: 12-9.
-
(1999)
Genomics
, vol.60
, pp. 12-19
-
-
Wang, C.Y.1
Shi, J.D.2
Huang, Y.Q.3
Cruz, P.E.4
Ochoa, B.5
Hawkins-Lee, B.6
-
58
-
-
17344370229
-
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21
-
Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ et al. Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21 Am J Hum Genet 1998; 62: 391-9.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 391-399
-
-
Van Hul, W.1
Balemans, W.2
Van Hul, E.3
Dikkers, F.G.4
Obee, H.5
Stokroos, R.J.6
-
59
-
-
8044224043
-
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
-
Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K et al. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 1997; 6: 317-24.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 317-324
-
-
Wright, T.J.1
Ricke, D.O.2
Denison, K.3
Abmayr, S.4
Cotter, P.D.5
Hirschhorn, K.6
-
60
-
-
0036461068
-
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome
-
Selicorni A, Guerneri S, Ratti A, Pizzuti A. Cytogenetic mapping of a novel locus for type II Waardenburg syndrome. Hum Genet 2002; 110: 64-7.
-
(2002)
Hum Genet
, vol.110
, pp. 64-67
-
-
Selicorni, A.1
Guerneri, S.2
Ratti, A.3
Pizzuti, A.4
-
61
-
-
0032819331
-
Unlocking the mechanisms of transcription factor YY1: Are chromatin modifying enzymes the key?
-
Thomas MJ, Seto E. Unlocking the mechanisms of transcription factor YY1: are chromatin modifying enzymes the key? Gene 1999; 236: 197-208.
-
(1999)
Gene
, vol.236
, pp. 197-208
-
-
Thomas, M.J.1
Seto, E.2
-
62
-
-
0037083755
-
IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response
-
Lee K, Tirasophon W, Shen X, Michalak M, Prywes R, Okada T et al. IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response. Genes Dev 2002; 16: 452-66.
-
(2002)
Genes Dev
, vol.16
, pp. 452-466
-
-
Lee, K.1
Tirasophon, W.2
Shen, X.3
Michalak, M.4
Prywes, R.5
Okada, T.6
-
63
-
-
0037155818
-
Hepatitis B virus pX interacts with HBXAP, a PHD finger protein to coactivate transcription
-
Shamay M, Barak O, Doitsh G, Ben-Dor I, Shaul Y. Hepatitis B virus pX interacts with HBXAP, a PHD finger protein to coactivate transcription. J Biol Chem 2002; 277: 9982-8.
-
(2002)
J Biol Chem
, vol.277
, pp. 9982-9988
-
-
Shamay, M.1
Barak, O.2
Doitsh, G.3
Ben-Dor, I.4
Shaul, Y.5
-
64
-
-
0037117479
-
Structural basis for recruitment of CBP/p300 by hypoxia-inducible factor-1 alpha
-
Freedman SJ, Sun ZY, Poy F, Kung AL, Livingston DM, Wagner G et al. Structural basis for recruitment of CBP/p300 by hypoxia-inducible factor-1 alpha. Proc Natl Acad Sci U S A 2002; 99: 5367-72.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 5367-5372
-
-
Freedman, S.J.1
Sun, Z.Y.2
Poy, F.3
Kung, A.L.4
Livingston, D.M.5
Wagner, G.6
-
65
-
-
0035112440
-
The neprilysin (NEP) family of zinc metalloendopeptidases: Genomics and function
-
Turner AJ, Isaac RE, Coates D. The neprilysin (NEP) family of zinc metalloendopeptidases: genomics and function. Bioessays 2001; 23: 261-9.
-
(2001)
Bioessays
, vol.23
, pp. 261-269
-
-
Turner, A.J.1
Isaac, R.E.2
Coates, D.3
-
66
-
-
0035877747
-
Neprilysin degrades both amyloid beta peptides 1-40 and 1-42 most rapidly and efficiently among thiorphan- and phosphoramidon-sensitive endopeptidases
-
Shirotani K, Tsubuki S, Iwata N, Takaki Y, Harigaya W, Maruyama K et al. Neprilysin degrades both amyloid beta peptides 1-40 and 1-42 most rapidly and efficiently among thiorphan-and phosphoramidon-sensitive endopeptidases. J Biol Chem 2001; 276: 21895-901.
-
(2001)
J Biol Chem
, vol.276
, pp. 21895-21901
-
-
Shirotani, K.1
Tsubuki, S.2
Iwata, N.3
Takaki, Y.4
Harigaya, W.5
Maruyama, K.6
-
67
-
-
0035933785
-
Characterization of a novel type of human microsomal 3alpha - Hydroxysteroid dehydrogenase: Unique tissue distribution and catalytic properties
-
Chetyrkin SV, Belyaeva OV, Gough WH, Kedishvili NY. Characterization of a novel type of human microsomal 3alpha - hydroxysteroid dehydrogenase: unique tissue distribution and catalytic properties. J Biol Chem 2001; 276: 22 278-86.
-
(2001)
J Biol Chem
, vol.276
, pp. 22278-22286
-
-
Chetyrkin, S.V.1
Belyaeva, O.V.2
Gough, W.H.3
Kedishvili, N.Y.4
-
68
-
-
0032558737
-
Loss of heterozygosity in sporadic oesophageal tumours in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q
-
von Brevern M, Hollstein MC, Risk JM, Garde J, Bennett WP, Harris CC et al. Loss of heterozygosity in sporadic oesophageal tumours in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q. Oncogene 1998; 17: 2101-5.
-
(1998)
Oncogene
, vol.17
, pp. 2101-2105
-
-
Von Brevern, M.1
Hollstein, M.C.2
Risk, J.M.3
Garde, J.4
Bennett, W.P.5
Harris, C.C.6
-
69
-
-
0034811949
-
A novel gene encoding a ring finger B-box coiled-coil protein, is overexpressed in astrocytoma
-
Vandeputte DA, Meije CB, van Dartel M, Leenstra SIJ, Ist-Keizers H, Das PK et al. A novel gene encoding a ring finger B-box coiled-coil protein, is overexpressed in astrocytoma. Biochem Biophys Res Commun 2001; 286: 574-9.
-
(2001)
Biochem Biophys Res Commun
, vol.286
, pp. 574-579
-
-
Vandeputte, D.A.1
Meije, C.B.2
Van Dartel, M.3
Leenstra, S.I.J.4
Ist-Keizers, H.5
Das, P.K.6
-
70
-
-
0030844370
-
Characterization of colorectal-cancer-related cDNA clones obtained by subtractive hybridization screening
-
Cao J, Cai X, Zheng L, Geng L, Shi Z, Pao CC et al. Characterization of colorectal-cancer-related cDNA clones obtained by subtractive hybridization screening. J Cancer Res Clin Oncol 1997; 123: 447-51.
-
(1997)
J Cancer Res Clin Oncol
, vol.123
, pp. 447-451
-
-
Cao, J.1
Cai, X.2
Zheng, L.3
Geng, L.4
Shi, Z.5
Pao, C.C.6
-
71
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
72
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG et al. The sequence of the human genome. Science 2001; 291: 1304-51.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
|