-
1
-
-
0024297509
-
Heparin cofactor II: CDNA sequence, chromosome localization, restriction fragment length polymorphism, and expression in Escherichia coli
-
Blinder MA, Marasa JC, Reynolds CH, Deaven LL, Tollefsen DM: Heparin cofactor II: cDNA sequence, chromosome localization, restriction fragment length polymorphism, and expression in Escherichia coli. Biochemistry 27:752-759 (1988).
-
(1988)
Biochemistry
, vol.27
, pp. 752-759
-
-
Blinder, M.A.1
Marasa, J.C.2
Reynolds, C.H.3
Deaven, L.L.4
Tollefsen, D.M.5
-
2
-
-
0030586267
-
Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel
-
Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, Liu Z, Hilliard C, Goldmuntz E, Messe E, Zwarthoff EC, Williams S, McDermid H, Dumanski JP, Biegel J, Bell CJ, Emanuel BS: Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics 35:275-288 (1996).
-
(1996)
Genomics
, vol.35
, pp. 275-288
-
-
Budarf, M.L.1
Eckman, B.2
Michaud, D.3
McDonald, T.4
Gavigan, S.5
Buetow, K.H.6
Tatsumura, Y.7
Liu, Z.8
Hilliard, C.9
Goldmuntz, E.10
Messe, E.11
Zwarthoff, E.C.12
Williams, S.13
McDermid, H.14
Dumanski, J.P.15
Biegel, J.16
Bell, C.J.17
Emanuel, B.S.18
-
3
-
-
0025871057
-
Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22
-
Budarf ML, McDermid HE, Sellinger B, Emanuel BS: Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22. Genomics 10:996-1002 (1991).
-
(1991)
Genomics
, vol.10
, pp. 996-1002
-
-
Budarf, M.L.1
McDermid, H.E.2
Sellinger, B.3
Emanuel, B.S.4
-
4
-
-
0026688328
-
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
-
Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J, Nordenskjold M, Williamson R, Scambler PJ: Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J hum Genet 51:964-970 (1992).
-
(1992)
Am J Hum Genet
, vol.51
, pp. 964-970
-
-
Carey, A.H.1
Kelly, D.2
Halford, S.3
Wadey, R.4
Wilson, D.5
Goodship, J.6
Burn, J.7
Paul, T.8
Sharkey, A.9
Dumanski, J.10
Nordenskjold, M.11
Williamson, R.12
Scambler, P.J.13
-
5
-
-
0025080192
-
Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome
-
Carey AH, Roach S, Williamson R, Dumanski JP, Nordenskjold M, Collins VP, Rouleau G, Blin N, Jalbert P, Scambler PJ: Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome. Genomics 7:299-306 (1990).
-
(1990)
Genomics
, vol.7
, pp. 299-306
-
-
Carey, A.H.1
Roach, S.2
Williamson, R.3
Dumanski, J.P.4
Nordenskjold, M.5
Collins, V.P.6
Rouleau, G.7
Blin, N.8
Jalbert, P.9
Scambler, P.J.10
-
6
-
-
0030910606
-
Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders
-
Carlson C, Papolos D, Pandita RK, Faedda GL, Veit S, Goldberg R, Shprintzen R, Kucherlapati R, Morrow B: Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. Am J hum Genet 60:851-859 (1997).
-
(1997)
Am J Hum Genet
, vol.60
, pp. 851-859
-
-
Carlson, C.1
Papolos, D.2
Pandita, R.K.3
Faedda, G.L.4
Veit, S.5
Goldberg, R.6
Shprintzen, R.7
Kucherlapati, R.8
Morrow, B.9
-
7
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum molec Genet 3:223-228 (1994).
-
(1994)
Hum Molec Genet
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
8
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen K-S, Manianm P, Koeuth T, Potocki L, Zhou Q, Chinault AC, Lee CC, Lupski JR: Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nature Genet 17:154-163 (1997).
-
(1997)
Nature Genet
, vol.17
, pp. 154-163
-
-
Chen, K.-S.1
Manianm, P.2
Koeuth, T.3
Potocki, L.4
Zhou, Q.5
Chinault, A.C.6
Lee, C.C.7
Lupski, J.R.8
-
9
-
-
0027994534
-
Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients
-
Cheng S-D, Spinner NB, Zackai EH, Knoll JHM: Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J hum Genet 55:753-759 (1994).
-
(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.M.4
-
10
-
-
0029011991
-
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
-
Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, Chakravarti A, Ledbetter DH: 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
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
-
11
-
-
0029653651
-
A high-density YAC contig map of human chromosome 22
-
Collins JE, Cole CG, Smink LJ, Garrett CL, Leversha MA, Soderlund CA, Maslen GL, Everatt LA, Rice KM, Coffey AJ, Gregary SG, Gwilliam R, Dunham A, Davies AF, Hassock S, Todd CM, Lehrach H, Hulsebos TJM, Weissenbach J, Morrow B, Kucherlapati RS, Wadey R, Scambler PJ, Kim U-J, Simon MI, Peyrard M, Xie Y-G, Carter NP, Durbin R, Dumanski JP, Bentley DR, Dunham I: A high-density YAC contig map of human chromosome 22. Nature 377(Suppl 6547):367-379 (1995).
-
(1995)
Nature
, vol.377
, Issue.SUPPL. 6547
, pp. 367-379
-
-
Collins, J.E.1
Cole, C.G.2
Smink, L.J.3
Garrett, C.L.4
Leversha, M.A.5
Soderlund, C.A.6
Maslen, G.L.7
Everatt, L.A.8
Rice, K.M.9
Coffey, A.J.10
Gregary, S.G.11
Gwilliam, R.12
Dunham, A.13
Davies, A.F.14
Hassock, S.15
Todd, C.M.16
Lehrach, H.17
Hulsebos, T.J.M.18
Weissenbach, J.19
Morrow, B.20
Kucherlapati, R.S.21
Wadey, R.22
Scambler, P.J.23
Kim, U.-J.24
Simon, M.I.25
Peyrard, M.26
Xie, Y.-G.27
Carter, N.P.28
Durbin, R.29
Dumanski, J.P.30
Bentley, D.R.31
Dunham, I.32
more..
-
12
-
-
0030796794
-
Erratum: The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11
-
Collins JE, Mungall AJ, Badcock KL, Fay JM, Dunham I : Erratum: The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11. Genome Res 7:942 (1997a).
-
(1997)
Genome Res
, vol.7
, pp. 942
-
-
Collins, J.E.1
Mungall, A.J.2
Badcock, K.L.3
Fay, J.M.4
Dunham, I.5
-
13
-
-
0030950736
-
The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11
-
Collins JE, Mungall AJ, Badcock KL, Fay JM, Dunham I: The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11. Genome Res 7:522-531 (1997b).
-
(1997)
Genome Res
, vol.7
, pp. 522-531
-
-
Collins, J.E.1
Mungall, A.J.2
Badcock, K.L.3
Fay, J.M.4
Dunham, I.5
-
14
-
-
0030784523
-
A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes
-
Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR: A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes. Am J med Genet 72:440-447 (1997).
-
(1997)
Am J Med Genet
, vol.72
, pp. 440-447
-
-
Crolla, J.A.1
Howard, P.2
Mitchell, C.3
Long, F.L.4
Dennis, N.R.5
-
15
-
-
0001038798
-
Human chromosome-specific partial digest libraries in lambda and cosmid vectors, in HGM10 (1989): Tenth International Workshop on Human Gene Mapping
-
de Jong PJ, Yokobata K, Chen C, Lohman F, Pederson L, McNinch J, Van Dilla M: Human chromosome-specific partial digest libraries in lambda and cosmid vectors, in HGM10 (1989): Tenth International Workshop on Human Gene Mapping. Cytogenet Cell Genet 51:985 (1989).
-
(1989)
Cytogenet Cell Genet
, vol.51
, pp. 985
-
-
De Jong, P.J.1
Yokobata, K.2
Chen, C.3
Lohman, F.4
Pederson, L.5
McNinch, J.6
Van Dilla, M.7
-
16
-
-
0022475535
-
Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome
-
Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA: Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc natl Acad Sci, USA 83:4408-4412 (1986).
-
(1986)
Proc Natl Acad Sci, USA
, vol.83
, pp. 4408-4412
-
-
Donlon, T.A.1
Lalande, M.2
Wyman, A.3
Bruns, G.4
Latt, S.A.5
-
17
-
-
0026750771
-
A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
-
Driscoll DA, Budarf ML, Emanuel BS: A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J hum Genet 50:924-933 (1992a).
-
(1992)
Am J Hum Genet
, vol.50
, pp. 924-933
-
-
Driscoll, D.A.1
Budarf, M.L.2
Emanuel, B.S.3
-
18
-
-
0026662962
-
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
-
Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, Mascarello JT, Emanuel BS: Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J med Genet 44:261-268 (1992b).
-
(1992)
Am J Med Genet
, vol.44
, pp. 261-268
-
-
Driscoll, D.A.1
Spinner, N.B.2
Budarf, M.L.3
McDonald-McGinn, D.M.4
Zackai, E.H.5
Goldberg, R.B.6
Shprintzen, R.J.7
Saal, H.M.8
Zonana, J.9
Jones, M.C.10
Mascarello, J.T.11
Emanuel, B.S.12
-
19
-
-
0343124035
-
Familial 22q11 deletions: Phenotypic variability and determination of deletion boundaries by FISH
-
Driscoll DA, Li M, Chien P, Capuano S, Zackai EH, McDonald-McGinn DM, Christensen KM, Cuneo BF, Saal HM, Gold R, Spector EB, Emanuel BS, Budarf ML: Familial 22q11 deletions: phenotypic variability and determination of deletion boundaries by FISH. Am J hum Genet 57:A33 (1995).
-
(1995)
Am J Hum Genet
, vol.57
-
-
Driscoll, D.A.1
Li, M.2
Chien, P.3
Capuano, S.4
Zackai, E.H.5
McDonald-McGinn, D.M.6
Christensen, K.M.7
Cuneo, B.F.8
Saal, H.M.9
Gold, R.10
Spector, E.B.11
Emanuel, B.S.12
Budarf, M.L.13
-
20
-
-
0011115694
-
DiGeorge and velocardiofacial syndromes: The 22q11 deletion syndrome
-
Driscoll DA, Emanuel BS: DiGeorge and velocardiofacial syndromes: the 22q11 deletion syndrome. Ment Retard Dev Disabil Res Rev 2:130-138 (1996).
-
(1996)
Ment Retard Dev Disabil Res Rev
, vol.2
, pp. 130-138
-
-
Driscoll, D.A.1
Emanuel, B.S.2
-
21
-
-
0025021391
-
Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter
-
Dumanski JP, Guerts van Kessel AH, Ruttledge M, Wladis A, Sugawa N, Collins VP, Nordenskjold M: Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter. Hum Genet 84:219-222 (1990).
-
(1990)
Hum Genet
, vol.84
, pp. 219-222
-
-
Dumanski, J.P.1
Van Guerts Kessel, A.H.2
Ruttledge, M.3
Wladis, A.4
Sugawa, N.5
Collins, V.P.6
Nordenskjold, M.7
-
22
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J: The 1993-94 Généthon human genetic linkage map [see comments]. Nature Genet 7(Spec No 2):246-339 (1994).
-
(1994)
Nature Genet
, vol.7
, Issue.SPEC. 2
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
23
-
-
0031060712
-
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
-
Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH: Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 99:11-17 (1997).
-
(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
-
24
-
-
0029102665
-
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11
-
Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, Eisen H, Childs B, Kazazian HH, Kucherlapati R, Antonarakis SE, Pulver AE, Housman DE: Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc natl Acad Sci, USA 92:7612-7616 (1995).
-
(1995)
Proc Natl Acad Sci, USA
, vol.92
, pp. 7612-7616
-
-
Karayiorgou, M.1
Morris, M.A.2
Morrow, B.3
Shprintzen, R.J.4
Goldberg, R.5
Borrow, J.6
Gos, A.7
Nestadt, G.8
Wolyniec, P.S.9
Lasseter, V.K.10
Eisen, H.11
Childs, B.12
Kazazian, H.H.13
Kucherlapati, R.14
Antonarakis, S.E.15
Pulver, A.E.16
Housman, D.E.17
-
25
-
-
0028812603
-
The organization of the human immunoglobulin lambda gene locus
-
Kawasaki K, Minoshima S, Schooler K, Kudoh J, Asakawa S, de Jong PJ, Shimizu N: The organization of the human immunoglobulin lambda gene locus. Genome Res 5:125-135 (1995).
-
(1995)
Genome Res
, vol.5
, pp. 125-135
-
-
Kawasaki, K.1
Minoshima, S.2
Schooler, K.3
Kudoh, J.4
Asakawa, S.5
De Jong, P.J.6
Shimizu, N.7
-
26
-
-
0027459424
-
Confirmation that the velo-cadio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
-
Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ: Confirmation that the velo-cadio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J med Genet 45:308-312 (1993).
-
(1993)
Am J Med Genet
, vol.45
, pp. 308-312
-
-
Kelly, D.1
Goldberg, R.2
Wilson, D.3
Lindsay, E.4
Carey, A.5
Goodship, J.6
Burn, J.7
Cross, I.8
Shprintzen, R.J.9
Scambler, P.J.10
-
27
-
-
0025292716
-
Angelman syndrome: Three molecular classes identified with chromosome 15q11q13-specific DNA markers
-
Knoll JHM, Nicholls RD, Magenis RE, Glatt K, Graham JM, Kaplan L, Lalande M: Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J hum Genet 47:149-155 (1990).
-
(1990)
Am J Hum Genet
, vol.47
, pp. 149-155
-
-
Knoll, J.H.M.1
Nicholls, R.D.2
Magenis, R.E.3
Glatt, K.4
Graham, J.M.5
Kaplan, L.6
Lalande, M.7
-
28
-
-
0024345984
-
Selective amplification and cloning of four new members of the G protein-coupled receptor family
-
Libert F, Parmentier M, Lefort M, Dinsart C, Van Sande J, Maenhaut C, Simons MJ, Dumont JE, Vassart G: Selective amplification and cloning of four new members of the G protein-coupled receptor family. Science 244:569-572 (1989).
-
(1989)
Science
, vol.244
, pp. 569-572
-
-
Libert, F.1
Parmentier, M.2
Lefort, M.3
Dinsart, C.4
Van Sande, J.5
Maenhaut, C.6
Simons, M.J.7
Dumont, J.E.8
Vassart, G.9
-
29
-
-
0023692635
-
Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
-
Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC: Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 80:224-234 (1988).
-
(1988)
Hum Genet
, vol.80
, pp. 224-234
-
-
Lichter, P.1
Cremer, T.2
Borden, J.3
Manuelidis, L.4
Ward, D.C.5
-
30
-
-
0023832841
-
Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis
-
Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R: Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. Am J med Genet 29:9-19 (1988).
-
(1988)
Am J Med Genet
, vol.29
, pp. 9-19
-
-
Magenis, R.E.1
Sheehy, R.R.2
Brown, M.G.3
McDermid, H.E.4
White, B.N.5
Zonana, J.6
Weleber, R.7
-
31
-
-
0027521344
-
Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint
-
McDermid HE, Budarf ML, Emanuel BS: Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint. Genomics 18:308-318 (1993).
-
(1993)
Genomics
, vol.18
, pp. 308-318
-
-
McDermid, H.E.1
Budarf, M.L.2
Emanuel, B.S.3
-
32
-
-
0022479573
-
Characterization of the supernumerary chromosome in cat eye syndrome
-
McDermid HE, Duncan AM, Brasch KR, Holden JJ, Magenis E, Sheehy R, Burn J, Kardon N, Noel B, Schinzel A, Teshima I, White BN: Characterization of the supernumerary chromosome in cat eye syndrome. Science 232:646-648 (1986).
-
(1986)
Science
, vol.232
, pp. 646-648
-
-
McDermid, H.E.1
Duncan, A.M.2
Brasch, K.R.3
Holden, J.J.4
Magenis, E.5
Sheehy, R.6
Burn, J.7
Kardon, N.8
Noel, B.9
Schinzel, A.10
Teshima, I.11
White, B.N.12
-
33
-
-
0030478431
-
Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region
-
McDermid HE, McTaggart KE, Riazi MA, Hudson TJ, Budarf ML, Emanuel BS. Bell CJ: Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region. Genome Res 6:1149-1159 (1996).
-
(1996)
Genome Res
, vol.6
, pp. 1149-1159
-
-
McDermid, H.E.1
McTaggart, K.E.2
Riazi, M.A.3
Hudson, T.J.4
Budarf, M.L.5
Emanuel, B.S.6
Bell, C.J.7
-
35
-
-
0028021562
-
Molecular characterization of the marker chromosome associated with cat eye syndrome
-
Mears AJ, Duncan AM, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, Greenberg CR, McDermid HE: Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J hum Genet 55:134-142 (1994).
-
(1994)
Am J Hum Genet
, vol.55
, pp. 134-142
-
-
Mears, A.J.1
Duncan, A.M.2
Budarf, M.L.3
Emanuel, B.S.4
Sellinger, B.5
Siegel-Bartelt, J.6
Greenberg, C.R.7
McDermid, H.E.8
-
36
-
-
0029161489
-
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region
-
Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR: Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J hum Genet 57:667-673 (1995).
-
(1995)
Am J Hum Genet
, vol.57
, pp. 667-673
-
-
Mears, A.J.1
El-Shanti, H.2
Murray, J.C.3
McDermid, H.E.4
Patil, S.R.5
-
37
-
-
0029960187
-
Clinical heterogeneity in 16 patients with inv dup 15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect
-
Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette M-F, Mattei M-G: Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect. Eur J Hum Genet 4:88-100 (1996).
-
(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
-
38
-
-
0029033626
-
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
-
Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, Kucherlapati R: Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J hum Genet 56:1391-1403 (1995).
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1391-1403
-
-
Morrow, B.1
Goldberg, R.2
Carlson, C.3
Das Gupta, R.4
Sirotkin, H.5
Collins, J.6
Dunham, I.7
O'Donnell, H.8
Scambler, P.9
Shprintzen, R.10
Kucherlapati, R.11
-
39
-
-
0015268298
-
Chromosome survey of a hospital for the mentally subnormal. II: Autosome abnormalities
-
Newton MS, Cunningham C, Jacobs PA, Price WH, Fraser IA: Chromosome survey of a hospital for the mentally subnormal. II. Autosome abnormalities. Clin Genet 3:226-248 (1972).
-
(1972)
Clin Genet
, vol.3
, pp. 226-248
-
-
Newton, M.S.1
Cunningham, C.2
Jacobs, P.A.3
Price, W.H.4
Fraser, I.A.5
-
40
-
-
0028231331
-
Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
-
Patel PI, Lupski JR: Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 10:128-133 (1994).
-
(1994)
Trends Genet
, vol.10
, pp. 128-133
-
-
Patel, P.I.1
Lupski, J.R.2
-
41
-
-
0030929515
-
Recombination hot spots and human disease
-
Purandare SM, Patel PI: Recombination hot spots and human disease. Genome Res 7:773-786 (1997).
-
(1997)
Genome Res
, vol.7
, pp. 773-786
-
-
Purandare, S.M.1
Patel, P.I.2
-
42
-
-
0021324753
-
Cat-eye syndrome with unusual marker chromosome probably not chromosome 22
-
Rosenfeld W, Verma RS, Jhaveri RC: Cat-eye syndrome with unusual marker chromosome probably not chromosome 22. Am J med Genet 18:19-24 (1984).
-
(1984)
Am J Med Genet
, vol.18
, pp. 19-24
-
-
Rosenfeld, W.1
Verma, R.S.2
Jhaveri, R.C.3
-
43
-
-
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, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterquvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA: 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).
-
(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
Zetterquvist, P.8
Enell, H.9
Baccichetti, C.10
Tenconi, R.11
Pagon, R.A.12
-
44
-
-
0017335956
-
Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15
-
Schreck RR, Breg WR, Erlanger BF, Miller OJ: Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15. Hum Genet 36:1-12 (1977).
-
(1977)
Hum Genet
, vol.36
, pp. 1-12
-
-
Schreck, R.R.1
Breg, W.R.2
Erlanger, B.F.3
Miller, O.J.4
-
45
-
-
0024542614
-
The role of cytologic NOR variants in the etiology of trisomy 21
-
Spinner NB, Eunpu DL, Schmickel RD, Zackai EH, McEldrew D, Bunin GR, McDermid H, Emanuel BS: The role of cytologic NOR variants in the etiology of trisomy 21. Am J hum Genet 44:631-638 (1989).
-
(1989)
Am J Hum Genet
, vol.44
, pp. 631-638
-
-
Spinner, N.B.1
Eunpu, D.L.2
Schmickel, R.D.3
Zackai, E.H.4
McEldrew, D.5
Bunin, G.R.6
McDermid, H.7
Emanuel, B.S.8
-
46
-
-
0022423429
-
Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction
-
Stewart GD, Harris P, Gait J, Ferguson-Smith MA: Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction. Nucl Acids Res 13:4125-4132 (1985).
-
(1985)
Nucl Acids Res
, vol.13
, pp. 4125-4132
-
-
Stewart, G.D.1
Harris, P.2
Gait, J.3
Ferguson-Smith, M.A.4
-
47
-
-
0024568942
-
The gene for human leukemia inhibitory factor (LIF) maps to 22q12
-
Sutherland GR, Baker E, Hyland VJ, Callen DF, Stahl J, Gough NM: The gene for human leukemia inhibitory factor (LIF) maps to 22q12. Leukemia 3:9-13 (1989).
-
(1989)
Leukemia
, vol.3
, pp. 9-13
-
-
Sutherland, G.R.1
Baker, E.2
Hyland, V.J.3
Callen, D.F.4
Stahl, J.5
Gough, N.M.6
-
48
-
-
0027179910
-
Isolation and chromosomal localization of CRKL, a human crk-like gene
-
ten Hoeve J, Morris C, Heisterkamp N, Groffen J: Isolation and chromosomal localization of CRKL, a human crk-like gene. Oncogene 8:2469-2474 (1993).
-
(1993)
Oncogene
, vol.8
, pp. 2469-2474
-
-
Ten Hoeve, J.1
Morris, C.2
Heisterkamp, N.3
Groffen, J.4
-
49
-
-
0028597355
-
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome
-
Tupler R, Hoeller A, Pezzolo A, Maraschio P: Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome. Annls Génét 37:153-155 (1994).
-
(1994)
Annls Génét
, vol.37
, pp. 153-155
-
-
Tupler, R.1
Hoeller, A.2
Pezzolo, A.3
Maraschio, P.4
-
50
-
-
0017714188
-
The origin and behavior of two isodicentric bisatellited chromosomes
-
Van Dyke DL, Weiss L, Logan M, Pai GS: The origin and behavior of two isodicentric bisatellited chromosomes. Am J hum Genet 29:294-300 (1977).
-
(1977)
Am J Hum Genet
, vol.29
, pp. 294-300
-
-
Van Dyke, D.L.1
Weiss, L.2
Logan, M.3
Pai, G.S.4
-
51
-
-
0001884644
-
Individual comparisons by ranking methods
-
Wilcoxon F: Individual comparisons by ranking methods. Biomet Bull 1:80-83 (1945).
-
(1945)
Biomet Bull
, vol.1
, pp. 80-83
-
-
Wilcoxon, F.1
|