-
1
-
-
0027379758
-
Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome
-
Aubry, M., Demczuk, S., Desmaze, C., Aikem, M., Aurias, A., Julien, J. P., and Rouleau, G. A. (1993). Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Hum. Mol. Genet. 2: 1583-1587.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1583-1587
-
-
Aubry, M.1
Demczuk, S.2
Desmaze, C.3
Aikem, M.4
Aurias, A.5
Julien, J.P.6
Rouleau, G.A.7
-
2
-
-
84941143640
-
Shotgun cloning as the strategy of choice to generate templates for high-throughoutput dideoxynucleotide sequencing
-
(J. C. Venter, Ed.), Academic Press, London
-
Bodenteich, A., Chissoe, S., Wang, Y. F., and Roe, B. A. (1993). Shotgun cloning as the strategy of choice to generate templates for high-throughoutput dideoxynucleotide sequencing. In "Automated DNA Sequencing and Analysis" (J. C. Venter, Ed.), pp. 42-50, Academic Press, London.
-
(1993)
Automated DNA Sequencing and Analysis
, pp. 42-50
-
-
Bodenteich, A.1
Chissoe, S.2
Wang, Y.F.3
Roe, B.A.4
-
3
-
-
0028998317
-
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
-
Budarf, M. L., Collins, J., Gong, W., Roe, B., Wang, Z., Bailey, L. C., Sellinger, B., Michaud, D., Driscoll, D. A., and Emanuel, B. S. (1995a). Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 10: 269-278.
-
(1995)
Nature Genet.
, vol.10
, pp. 269-278
-
-
Budarf, M.L.1
Collins, J.2
Gong, W.3
Roe, B.4
Wang, Z.5
Bailey, L.C.6
Sellinger, B.7
Michaud, D.8
Driscoll, D.A.9
Emanuel, B.S.10
-
4
-
-
0028926898
-
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2
-
Budarf, M. L., Konkle, B. A., Lulow, L. B., Michaud, D., Li, M., Yamashiro, D. J., McDonald-McGinn, D., Zackai, E. H., and Driscoll, D. A. (1995b). Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2. Hum. Mol. Genet. 4: 763-766.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 763-766
-
-
Budarf, M.L.1
Konkle, B.A.2
Lulow, L.B.3
Michaud, D.4
Li, M.5
Yamashiro, D.J.6
McDonald-McGinn, D.7
Zackai, E.H.8
Driscoll, D.A.9
-
5
-
-
85030195965
-
-
Submitted for publication
-
Budarf, M. L., Eckman, B., Michaud, D., McDonald, T., Gavigan, S., Buetow, K. H., Tatsumura, Y., Lui, Z., Hilliard, C., Goldmuntz, E., Meese, E., Zwarthoff, E. C., Williams, S., McDermid, H., Dumanski, J. P., Biegel, J., Bell, C. J., Emanuel, B. S. Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Submitted for publication.
-
Regional Localization of over 300 Loci on Human Chromosome 22 Using a Somatic Cell Hybrid Mapping Panel
-
-
Budarf, M.L.1
Eckman, B.2
Michaud, D.3
McDonald, T.4
Gavigan, S.5
Buetow, K.H.6
Tatsumura, Y.7
Lui, Z.8
Hilliard, C.9
Goldmuntz, E.10
Meese, 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
-
6
-
-
0026688328
-
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
-
Carey, A. H., Kelly, D., Halford, S., Wadey, R., Wilson, D., Goodship, J., Burn, J., Paul, T., Sharkey, A., Dumanski, J., Nordenskjold, M., Williamson, R., and Scambler, P. J. (1992). Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am. J. Hum. Genet. 51: 964-970.
-
(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
-
7
-
-
0002766732
-
Strategies for rapid and accurate DNA sequencing
-
Chissoe, S. L., Wang, Y. F., Clifton, S. W., Ma, N., Sun, H. J., Lobsinger, J. S., Kenton, S. M., White, J. D., and Roe, B. A. (1991). Strategies for rapid and accurate DNA sequencing. Methods Enzymol. 3: 55-65.
-
(1991)
Methods Enzymol.
, vol.3
, pp. 55-65
-
-
Chissoe, S.L.1
Wang, Y.F.2
Clifton, S.W.3
Ma, N.4
Sun, H.J.5
Lobsinger, J.S.6
Kenton, S.M.7
White, J.D.8
Roe, B.A.9
-
8
-
-
0018415066
-
The spectrum of DiGeorge syndrome
-
Conley, M. E., Beckwith, J. B., Mancer, J. F. K., and Tenckhoff, I. (1979). The spectrum of DiGeorge syndrome. J. Pediatr. 94: 883-890.
-
(1979)
J. Pediatr.
, vol.94
, pp. 883-890
-
-
Conley, M.E.1
Beckwith, J.B.2
Mancer, J.F.K.3
Tenckhoff, I.4
-
9
-
-
0028958564
-
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
-
Demczuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau, G. A., Thomas, G., and Aurias, A. (1995). Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Mol. Genet. 4: 551-558.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 551-558
-
-
Demczuk, S.1
Aledo, R.2
Zucman, J.3
Delattre, O.4
Desmaze, C.5
Dauphinot, L.6
Jalbert, P.7
Rouleau, G.A.8
Thomas, G.9
Aurias, A.10
-
10
-
-
0000025287
-
Discussion on a new concept of the cellular basis of immunology
-
DiGeorge, A. M. (1965). Discussion on a new concept of the cellular basis of immunology. J. Pediatr. 67: 907-908.
-
(1965)
J. Pediatr.
, vol.67
, pp. 907-908
-
-
DiGeorge, A.M.1
-
11
-
-
0026750771
-
A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
-
Driscoll, D. A., Budarf, M. L., and Emanuel, B. S. (1992a). A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 50: 924-933.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 924-933
-
-
Driscoll, D.A.1
Budarf, M.L.2
Emanuel, B.S.3
-
12
-
-
0026662962
-
Deletions and microdeletions of 22q11.2 in velo-cardiofacial syndrome
-
Driscoll, D. A., Spinner, N. B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., Goldberg, R. B., Shprintzen, R. J., Saal, H. M., Zonana, J., Jones, M. J., Mascarello, J. T., and Emanuel, B. S. (1992b). Deletions and microdeletions of 22q11.2 in velo-cardiofacial syndrome. Am. J. Med. Genet. 44: 261-268.
-
(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.J.10
Mascarello, J.T.11
Emanuel, B.S.12
-
13
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
-
Driscoll, D. A., Salvin, S., Sellinger, B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., and Emanuel, B. S. (1993). Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis. J. Med. Genet. 30: 813-817.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, S.2
Sellinger, B.3
Budarf, M.L.4
McDonald-McGinn, D.M.5
Zackai, E.H.6
Emanuel, B.S.7
-
14
-
-
0021381028
-
Addendum: A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
-
Feinberg, A., and Vogelstein, B. (1984). Addendum: A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Ann. Biochem. 137: 266-267.
-
(1984)
Ann. Biochem.
, vol.137
, pp. 266-267
-
-
Feinberg, A.1
Vogelstein, B.2
-
15
-
-
0004686587
-
A case-control study of cardiovascular malformations in liveborn infants: The morphogenetic relevance of epidemiologic findings
-
(E. B. Clark and A. Takao, Eds.), Futura, Mount Kisco, NY
-
Ferencz, C. (1990). A case-control study of cardiovascular malformations in liveborn infants: The morphogenetic relevance of epidemiologic findings. In "Developmental Cardiology: Morphogenesis and Function" (E. B. Clark and A. Takao, Eds.), pp. 523-539, Futura, Mount Kisco, NY.
-
(1990)
Developmental Cardiology: Morphogenesis and Function
, pp. 523-539
-
-
Ferencz, C.1
-
16
-
-
0027442395
-
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects
-
Goldmuntz, E., Driscoll, D., Budarf, M. L., Zackai, E. H., McDonald-McGinn, D. M., Biegel, J. A., and Emanuel, B. S. (1993). Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J. Med. Genet. 30: 807-812.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 807-812
-
-
Goldmuntz, E.1
Driscoll, D.2
Budarf, M.L.3
Zackai, E.H.4
McDonald-McGinn, D.M.5
Biegel, J.A.6
Emanuel, B.S.7
-
17
-
-
0026518652
-
Chromosomal mapping of the human catechol-o-methyltransferase gene to 22q11.11-11.2
-
Grossman, M. H., Emanuel, B. S., and Budarf, M. L. (1992). Chromosomal mapping of the human catechol-o-methyltransferase gene to 22q11.11-11.2. Genomics 12: 822-825.
-
(1992)
Genomics
, vol.12
, pp. 822-825
-
-
Grossman, M.H.1
Emanuel, B.S.2
Budarf, M.L.3
-
18
-
-
0027486337
-
Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome
-
Halford, S., Wilson, D. I., Daw, S. C. M., Roberts, C., Wadey, R., Kamath, S., Wickremasinghe, A., Burn, J., Goodship, J., Mattei, M. G., Moormon, A. F. M., and Scambler, P. J. (1993a). Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum. Mol. Genet. 2: 1577-1582.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1577-1582
-
-
Halford, S.1
Wilson, D.I.2
Daw, S.C.M.3
Roberts, C.4
Wadey, R.5
Kamath, S.6
Wickremasinghe, A.7
Burn, J.8
Goodship, J.9
Mattei, M.G.10
Moormon, A.F.M.11
Scambler, P.J.12
-
19
-
-
0027731681
-
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
-
Halford, S., Wadey, R., Roberts, C., Daw, S. C. M., Whiting, J., O'Donnell, H., Dunham, I., Bentley, D., Lindsay, E., Baldini, A., Francis, F., Lehrach, H., Williamson, R., Wilson, D. I., Goodship, J., Cross, I., Burn, J., and Scambler, P. J. (1993b). Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Hum. Mol. Genet. 2: 2099-2107.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2099-2107
-
-
Halford, S.1
Wadey, R.2
Roberts, C.3
Daw, S.C.M.4
Whiting, J.5
O'Donnell, H.6
Dunham, I.7
Bentley, D.8
Lindsay, E.9
Baldini, A.10
Francis, F.11
Lehrach, H.12
Williamson, R.13
Wilson, D.I.14
Goodship, J.15
Cross, I.16
Burn, J.17
Scambler, P.J.18
-
20
-
-
0029150085
-
Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region
-
Heisterkamp, N., Mulder, M. P., Langeveld, A., Hoeve, J. T., Wang, Z., Roe, B. A., and Groffen, J. (1995). Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region. Genomics 29:451-456.
-
(1995)
Genomics
, vol.29
, pp. 451-456
-
-
Heisterkamp, N.1
Mulder, M.P.2
Langeveld, A.3
Hoeve, J.T.4
Wang, Z.5
Roe, B.A.6
Groffen, J.7
-
21
-
-
0025283340
-
Streptozotocin-induced alterations in the levels of functional mitochondrial anion transport proteins
-
Kaplan, R. S., Oliveira, D. L., and Wilson, G. L. (1990). Streptozotocin-induced alterations in the levels of functional mitochondrial anion transport proteins. Arch. Biochem. Biophys. 280: 181-191.
-
(1990)
Arch. Biochem. Biophys.
, vol.280
, pp. 181-191
-
-
Kaplan, R.S.1
Oliveira, D.L.2
Wilson, G.L.3
-
22
-
-
0025846931
-
The effect of insulin supplementation on diabetes-induced alterations in the extractable levels of functional mitochondrial anion transport proteins
-
Kaplan, R. S., Mayor, J. A., Blackwell, R., Maughon, R. H., and Wilson, G. L. (1991a). The effect of insulin supplementation on diabetes-induced alterations in the extractable levels of functional mitochondrial anion transport proteins. Arch. Biochem. Biophys. 287: 305-311.
-
(1991)
Arch. Biochem. Biophys.
, vol.287
, pp. 305-311
-
-
Kaplan, R.S.1
Mayor, J.A.2
Blackwell, R.3
Maughon, R.H.4
Wilson, G.L.5
-
23
-
-
0025850372
-
Functional levels of mitochondrial anion transport proteins in non-insulin-dependent diabetes mellitus
-
Kaplan, R. S., Mayor, J. A., Blackwell, R., Wilson, G. L., and Schaffer, S. W. (1991b). Functional levels of mitochondrial anion transport proteins in non-insulin-dependent diabetes mellitus. Mol. Cell. Biol. 107: 79-86.
-
(1991)
Mol. Cell. Biol.
, vol.107
, pp. 79-86
-
-
Kaplan, R.S.1
Mayor, J.A.2
Blackwell, R.3
Wilson, G.L.4
Schaffer, S.W.5
-
24
-
-
0027441813
-
The mitochondrial tricarboxylate transport protein
-
Kaplan, R. S., Mayor, J. A., and Wood, D. O. (1993). The mitochondrial tricarboxylate transport protein. J. Biol. Chem. 268: 13682-13690.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 13682-13690
-
-
Kaplan, R.S.1
Mayor, J.A.2
Wood, D.O.3
-
25
-
-
0027459424
-
Confirmation that the velo-cardio-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, R. J., and Scambler, P. J. (1993). Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am. J. Med. Genet. 45: 308-312.
-
(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
-
26
-
-
0020640517
-
Neural crest cells contribute to aorticopulmonary septation
-
Kirby, M. L., Gale, T. F., and Stewart, D. E. (1983). Neural crest cells contribute to aorticopulmonary septation. Science 220: 1059-1061.
-
(1983)
Science
, vol.220
, pp. 1059-1061
-
-
Kirby, M.L.1
Gale, T.F.2
Stewart, D.E.3
-
27
-
-
0022552131
-
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
-
Kozak, M. (1986). Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44: 283-292.
-
(1986)
Cell
, vol.44
, pp. 283-292
-
-
Kozak, M.1
-
28
-
-
0028915336
-
Isolation and characterization of a novel gene deleted in DiGeorge syndrome
-
Kurahashi, H., Akagi, K., Inazawa, J., Ohta, T., Niikawa, N., Kayatani, F., Sano, T., Okada, S., and Nishisho, I. (1995). Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum. Mol. Genet. 4: 541-549.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 541-549
-
-
Kurahashi, H.1
Akagi, K.2
Inazawa, J.3
Ohta, T.4
Niikawa, N.5
Kayatani, F.6
Sano, T.7
Okada, S.8
Nishisho, I.9
-
29
-
-
0022939117
-
The DiGeorge anomaly as a developmental field defect
-
Lammer, E. J., and Opitz, J. M. (1986). The DiGeorge anomaly as a developmental field defect. Am. J. Med. Genet. 29: 113-127.
-
(1986)
Am. J. Med. Genet.
, vol.29
, pp. 113-127
-
-
Lammer, E.J.1
Opitz, J.M.2
-
30
-
-
0003164101
-
Narrowing the DiGeorge region (DGCR) using DGS-VCFS associated translocation breakpoints
-
Li, M., Budarf, M. L., Sellinger, B., Jaquez, M., Matalon, R., Ball, S., Pagon, R. A., Rosengren, S. S., Emanuel, B. S., and Driscoll, D. A. (1994). Narrowing the DiGeorge region (DGCR) using DGS-VCFS associated translocation breakpoints. Am. J. Med. Genet. 55: A10.
-
(1994)
Am. J. Med. Genet.
, vol.55
-
-
Li, M.1
Budarf, M.L.2
Sellinger, B.3
Jaquez, M.4
Matalon, R.5
Ball, S.6
Pagon, R.A.7
Rosengren, S.S.8
Emanuel, B.S.9
Driscoll, D.A.10
-
31
-
-
0028019184
-
Confirmation that the Conotruncal Anomaly Face syndrome is associated with a deletion within 22q11.2
-
Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joh-o, K., Ikeda, K., Nishibatake, M., Ando, M., and Momma, K. (1994). Confirmation that the Conotruncal Anomaly Face syndrome is associated with a deletion within 22q11.2. Am. J. Med. Genet. 53: 285-289.
-
(1994)
Am. J. Med. Genet.
, vol.53
, pp. 285-289
-
-
Matsuoka, R.1
Takao, A.2
Kimura, M.3
Imamura, S.4
Kondo, C.5
Joh-o, K.6
Ikeda, K.7
Nishibatake, M.8
Ando, M.9
Momma, K.10
-
32
-
-
0005751820
-
Conotruncal anomaly face syndrome: Its heterogeneity and association with thymus involution
-
(J. J. Nora and A. Takao, Eds.), Futura, New York
-
Shimizu, T., Takao, A., Ando, M., and Hirayama, A. (1984). Conotruncal anomaly face syndrome: Its heterogeneity and association with thymus involution. In "Congenital Heart Disease: Causes and Processes" (J. J. Nora and A. Takao, Eds.), pp. 29-41, Futura, New York.
-
(1984)
Congenital Heart Disease: Causes and Processes
, pp. 29-41
-
-
Shimizu, T.1
Takao, A.2
Ando, M.3
Hirayama, A.4
-
33
-
-
0016700864
-
Detection of specific sequences among DNA fragments separated by gel electrophoresis
-
Southern, E. M. (1975). Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 98: 503-517.
-
(1975)
J. Mol. Biol.
, vol.98
, pp. 503-517
-
-
Southern, E.M.1
-
34
-
-
0025271112
-
DiGeorge anomaly and Velo-Cardio-Facial syndrome
-
Stevens, C. A., Carey, J. C., and Shigeoka, A. O. (1990). DiGeorge anomaly and Velo-Cardio-Facial syndrome. Pediatrics 85: 526-530.
-
(1990)
Pediatrics
, vol.85
, pp. 526-530
-
-
Stevens, C.A.1
Carey, J.C.2
Shigeoka, A.O.3
-
35
-
-
0026351408
-
Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
-
Uberbacher, E. C., and Mural, R. J. (1991). Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88: 11261-11265.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 11261-11265
-
-
Uberbacher, E.C.1
Mural, R.J.2
-
36
-
-
0029065469
-
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
-
Wadey, R., Daw, S., Taylor, C., Atif, U., Kamath, S., Halford, S., O'Donnell, H. O., Wilson, D., Goodship, J., Burn, J., and Scambler, P. J. (1995). Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum. Mol. Genet. 4: 1027-1033.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1027-1033
-
-
Wadey, R.1
Daw, S.2
Taylor, C.3
Atif, U.4
Kamath, S.5
Halford, S.6
O'Donnell, H.O.7
Wilson, D.8
Goodship, J.9
Burn, J.10
Scambler, P.J.11
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