-
3
-
-
0006661979
-
-
M. P. Moldawar, G. L. Mardi, G. W. Raker, Am. J. Med. Sci. 228, 190 (1954) ; P. Wermer, Am. J. Med. 16, 363 (1954); H. S. Ballard, B. Frame, R. J. Hartsock, ibid. 43, 481 (1964); D. C. Metz et al., in The Parathyroids, J. P. Bilezekian, M. A. Levine, R. Marcus, Eds. (Raven, New York, 1994), pp. 591-646.
-
(1954)
Am. J. Med. Sci.
, vol.228
, pp. 190
-
-
Moldawar, M.P.1
Mardi, G.L.2
Raker, G.W.3
-
4
-
-
0000319647
-
-
M. P. Moldawar, G. L. Mardi, G. W. Raker, Am. J. Med. Sci. 228, 190 (1954) ; P. Wermer, Am. J. Med. 16, 363 (1954); H. S. Ballard, B. Frame, R. J. Hartsock, ibid. 43, 481 (1964); D. C. Metz et al., in The Parathyroids, J. P. Bilezekian, M. A. Levine, R. Marcus, Eds. (Raven, New York, 1994), pp. 591-646.
-
(1954)
Am. J. Med.
, vol.16
, pp. 363
-
-
Wermer, P.1
-
5
-
-
33744909728
-
-
M. P. Moldawar, G. L. Mardi, G. W. Raker, Am. J. Med. Sci. 228, 190 (1954) ; P. Wermer, Am. J. Med. 16, 363 (1954); H. S. Ballard, B. Frame, R. J. Hartsock, ibid. 43, 481 (1964); D. C. Metz et al., in The Parathyroids, J. P. Bilezekian, M. A. Levine, R. Marcus, Eds. (Raven, New York, 1994), pp. 591-646.
-
(1964)
Am. J. Med.
, vol.43
, pp. 481
-
-
Ballard, H.S.1
Frame, B.2
Hartsock, R.J.3
-
6
-
-
0006661979
-
-
J. P. Bilezekian, M. A. Levine, R. Marcus, Eds. Raven, New York
-
M. P. Moldawar, G. L. Mardi, G. W. Raker, Am. J. Med. Sci. 228, 190 (1954) ; P. Wermer, Am. J. Med. 16, 363 (1954); H. S. Ballard, B. Frame, R. J. Hartsock, ibid. 43, 481 (1964); D. C. Metz et al., in The Parathyroids, J. P. Bilezekian, M. A. Levine, R. Marcus, Eds. (Raven, New York, 1994), pp. 591-646.
-
(1994)
The Parathyroids
, pp. 591-646
-
-
Metz, D.C.1
-
7
-
-
0001710006
-
-
D. Trump et al., Q. J. Med. 89, 653 (1996).
-
(1996)
Q. J. Med.
, vol.89
, pp. 653
-
-
Trump, D.1
-
8
-
-
0023828816
-
-
C. Larsson, B. Skogseid, K. Oberg, Y. Nakamura, M. Nordenskjold, Nature 332, 85 (1988).
-
(1988)
Nature
, vol.332
, pp. 85
-
-
Larsson, C.1
Skogseid, B.2
Oberg, K.3
Nakamura, Y.4
Nordenskjold, M.5
-
9
-
-
0028360153
-
-
E. M. Petty et al., Am. J. Hum. Genet. 54, 1060 (1994); C. M. Smith, S. A. Wells, D. S. Gerhard, Hum. Genet. 96, 377 (1995).
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 1060
-
-
Petty, E.M.1
-
10
-
-
0029157754
-
-
E. M. Petty et al., Am. J. Hum. Genet. 54, 1060 (1994); C. M. Smith, S. A. Wells, D. S. Gerhard, Hum. Genet. 96, 377 (1995).
-
(1995)
Hum. Genet.
, vol.96
, pp. 377
-
-
Smith, C.M.1
Wells, S.A.2
Gerhard, D.S.3
-
11
-
-
0030298007
-
-
A. Courseaux et al., Genomics 37, 354 (1996); L. V. Debelenko et al., Cancer Res., 57, 1039 (1997); M. R. Emmert-Buck et al., in preparation.
-
(1996)
Genomics
, vol.37
, pp. 354
-
-
Courseaux, A.1
-
12
-
-
0030968288
-
-
A. Courseaux et al., Genomics 37, 354 (1996); L. V. Debelenko et al., Cancer Res., 57, 1039 (1997); M. R. Emmert-Buck et al., in preparation.
-
(1997)
Cancer Res.
, vol.57
, pp. 1039
-
-
Debelenko, L.V.1
-
13
-
-
0030298007
-
-
in preparation
-
A. Courseaux et al., Genomics 37, 354 (1996); L. V. Debelenko et al., Cancer Res., 57, 1039 (1997); M. R. Emmert-Buck et al., in preparation.
-
-
-
Emmert-Buck, M.R.1
-
14
-
-
1842391143
-
-
in preparation
-
P. Manickam et al., in preparation.
-
-
-
Manickam, P.1
-
15
-
-
1842398957
-
-
in preparation
-
S. C. Guru et al., in preparation.
-
-
-
Guru, S.C.1
-
16
-
-
1842286316
-
-
in preparation
-
S. C. Guru et al., in preparation.
-
-
-
Guru, S.C.1
-
18
-
-
10544249869
-
-
I. A. Lubensky et al., Cancer Res. 56, 5272 (1996); M. R. Emmert-Buck et al., Science 274, 998 (1996).
-
(1996)
Cancer Res.
, vol.56
, pp. 5272
-
-
Lubensky, I.A.1
-
19
-
-
0030575911
-
-
I. A. Lubensky et al., Cancer Res. 56, 5272 (1996); M. R. Emmert-Buck et al., Science 274, 998 (1996).
-
(1996)
Science
, vol.274
, pp. 998
-
-
Emmert-Buck, M.R.1
-
22
-
-
0028596886
-
-
BAC clones were from the Research Genetics library (Huntsville, AL). BAG DNA was purified by means of a cleared-lysate diatomaceous earth method [H. Q. Pan et al., Genet. Anal. Tech. Appl. 11, 181 (1994)]. Sequencing was undertaken using the double-stranded, shotgun-based approach [A. Bodenteich, S. Chissoe, Y. F. Wang, B. A. Roe, in Automated DNA Sequencing and Analysis Techniques, M. D. Adams, C. Fields, J. C. Venter, Eds. (Academic Press, London, 1994), pp. 42-50]. The resulting sequences were screened to eliminate vector, assembled into contiguous fragments, and proofread using the Phred/Phrap/Consed system developed by P. Green (http://chimera.biotech.washington.edu/uwgc/). Contigs larger than 1 kb were deposited before publication in the "unfinished" division of the high-throughput genome sequencing (HTGS) GenBank database with no restriction on public access. Accession numbers are AC000134 and AC000159 for BACs b13767 and b79G17, respectively. Completion of the BAC sequences is still in progress.
-
(1994)
Genet. Anal. Tech. Appl.
, vol.11
, pp. 181
-
-
Pan, H.Q.1
-
23
-
-
0002350930
-
-
M. D. Adams, C. Fields, J. C. Venter, Eds. Academic Press, London
-
BAC clones were from the Research Genetics library (Huntsville, AL). BAG DNA was purified by means of a cleared-lysate diatomaceous earth method [H. Q. Pan et al., Genet. Anal. Tech. Appl. 11, 181 (1994)]. Sequencing was undertaken using the double-stranded, shotgun-based approach [A. Bodenteich, S. Chissoe, Y. F. Wang, B. A. Roe, in Automated DNA Sequencing and Analysis Techniques, M. D. Adams, C. Fields, J. C. Venter, Eds. (Academic Press, London, 1994), pp. 42-50]. The resulting sequences were screened to eliminate vector, assembled into contiguous fragments, and proofread using the Phred/Phrap/Consed system developed by P. Green (http://chimera.biotech.washington.edu/uwgc/). Contigs larger than 1 kb were deposited before publication in the "unfinished" division of the high-throughput genome sequencing (HTGS) GenBank database with no restriction on public access. Accession numbers are AC000134 and AC000159 for BACs b13767 and b79G17, respectively. Completion of the BAC sequences is still in progress.
-
(1994)
Automated DNA Sequencing and Analysis Techniques
, pp. 42-50
-
-
Bodenteich, A.1
Chissoe, S.2
Wang, Y.F.3
Roe, B.A.4
-
24
-
-
1842310172
-
-
BAC clones were from the Research Genetics library (Huntsville, AL). BAG DNA was purified by means of a cleared-lysate diatomaceous earth method [H. Q. Pan et al., Genet. Anal. Tech. Appl. 11, 181 (1994)]. Sequencing was undertaken using the double-stranded, shotgun-based approach [A. Bodenteich, S. Chissoe, Y. F. Wang, B. A. Roe, in Automated DNA Sequencing and Analysis Techniques, M. D. Adams, C. Fields, J. C. Venter, Eds. (Academic Press, London, 1994), pp. 42-50]. The resulting sequences were screened to eliminate vector, assembled into contiguous fragments, and proofread using the Phred/Phrap/Consed system developed by P. Green (http://chimera.biotech.washington.edu/uwgc/). Contigs larger than 1 kb were deposited before publication in the "unfinished" division of the high-throughput genome sequencing (HTGS) GenBank database with no restriction on public access. Accession numbers are AC000134 and AC000159 for BACs b13767 and b79G17, respectively. Completion of the BAC sequences is still in progress.
-
-
-
Green, P.1
-
25
-
-
1842397952
-
-
These cosmid sequences are available at http:// mcdermott.swmed.edu.
-
-
-
-
26
-
-
85009004881
-
-
in press; http://ncbi. nlm.nih.gov/(http://avalon.epm. oml.gov/) (http:// dot.imgen.bcm.tmc.edu:9331/gene-finder/gf.html)
-
All assembled contigs larger than 1000 bases were analyzed with the program PowerBLAST (J. Zhang and T. Madden, Genome Res., in press; ftp://ncbi. nlm.nih.gov/pub/sim2/PowerBlast/), which masks low-complexity sequences and repetitive elements and then performs simultaneous BLASTN and BLASTX searches, reporting the results in graphical form. Both the nr and est databases at http://ncbi. nlm.nih.gov/were searched. Contigs were also analyzed with the program GRAIL (http://avalon.epm. oml.gov/) and the programs FEXH and HEXON (http:// dot.imgen.bcm.tmc.edu:9331/gene-finder/gf.html).
-
Genome Res.
-
-
Zhang, J.1
Madden, T.2
-
27
-
-
10244230901
-
-
G. D. Schuler et al., Science 274, 540 (1996).
-
(1996)
Science
, vol.274
, pp. 540
-
-
Schuler, G.D.1
-
28
-
-
1842402128
-
-
note
-
The diagnosis of MEN1 was based on the presence of tumors in two of the three principal systems (parathyroid, enteropancreatic endocrine tissue, or anterior pituitary). Diagnosis of familial MEN1 required at least one first-degree relative with a tumor of one or more of these systems. There were 1 to 47 living affected members in each kindred, with a median of 5. All participating family members gave full informed consent in a protocol approved by the NIDDK Institutional Review Board.
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-
-
-
29
-
-
0026611384
-
-
www.nhgri.nih.gov
-
Genomic DNA was isolated from blood samples with the Qiagen Kit (Chatsworth, CA). Exons 2 through 10 were amplified individually or in groups from genomic DNA by means of primers designed from intron sequences (supplementary PCR primer and ddF primer sequences can be found at www.sciencemag.org or www.nhgri.nih.gov). PCR was performed in 25-μI reactions containing 100 ng of DNA and 0.5 U of AmpliTaq Gold (Perkin-Elmer) according to the manufacturer's protocol. Dimethyl sulfoxide (final concentration 5%) was included for exons 2, 9, and 10. The primary PCR products were subjected to a dideoxy chain termination reaction with 200 μM dideoxyguanosine triphosphate (Boehringer Mannheim) and AmpliTaq Gold, as described [G. H. Sarkar, H. J. Yoon, S. S. Sommer, Genomics 13, 441 (1992)], with modified gel running conditions. The ddF reactions were diluted 1:4 in buffer containing 7 M urea, 50% formamide, bromophenol blue, and xylene cyanol. Reactions were heated at 94°C for 5 min and chilled on ice, and a 5-μI sample was loaded on a nondenaturing gel [0.75X Mutation Detection Enhancement (MDE) (FMC Bioproducts, Rockland, ME) in 0.5X tris-borate EDTA (TBE)] on a sequencing apparatus. The gel was electrophoresed at a constant power of 8 W at room temperature in a buffer system (consisting of 0.5X TBE in the top reservoir and 0.8X TBE with 0.5 M sodium acetate in the bottom reservoir) until the bromophenol blue reached the bottom of the gel. The gel was removed on Whatman paper, dried for 30 min in a sequencing gel drier, and autoradiographed overnight. One ddF primer could screen about 250 bp; if the region to be screened in the primary PCR product was larger, additional primers were used for ddF. Samples showing changes in band patterns were subjected to cycle sequencing with the same primary PCR product and the same end-labeled primer as was used in the ddF reaction. For insertion or deletion type changes in which the actual bases involved could not be ascertained from the sequence of the heterozygous patient sample, the primary PCR product was cloned in the TA cloning vector pCRII (Invitrogen) and then sequenced.
-
(1992)
Genomics
, vol.13
, pp. 441
-
-
Sarkar, G.H.1
Yoon, H.J.2
Sommer, S.S.3
-
30
-
-
0025127424
-
-
Confirmation that the mutation segregated with MEN1 was achieved by direct sequencing of PCR products from other affected family members. Independent confirmation of the sequence change in affected individuals was achieved by restriction digestion of the appropriate exon PCR product for 512delC (creates an Afl II site), W436R (creates Msp I and Nci I sites), and R527X (creates a Bsu 36I site). For the remainder, analysis was carried out with radioactively labeled allele-specific 16-to 20-nucleotide oligomers, corresponding to the wild-type or mutant sequence, that were hybridized to slot blots of exon PCR products as described [J. Lyons et al., Science 249, 655 (1990)].
-
(1990)
Science
, vol.249
, pp. 655
-
-
Lyons, J.1
-
32
-
-
0028501914
-
-
J. C. Wootton, Comput. Chem. 18, 269 (1994); V. Brendel et al., Proc. Natl. Acad. Sci. U.S.A. 89, 2002 (1992).
-
(1994)
Comput. Chem.
, vol.18
, pp. 269
-
-
Wootton, J.C.1
-
34
-
-
0027231568
-
-
L. M. Mulligan et al., Nature 363, 458 (1993).
-
(1993)
Nature
, vol.363
, pp. 458
-
-
Mulligan, L.M.1
-
38
-
-
1842304407
-
-
note
-
This paper is dedicated to the memory of Gerald D. Aurbach. We thank all the MEN1 families who participated and the clinicians (NIDDK-National Institute of Child Health and Human Development NIH Interinstitute Endocrine Training Program, NCI Surgery Branch, and Clinical Center Diagnostic Radiology Department) who helped care for them. We thank C. Cummings, N. Dietrich, L. Gieser, B. Pike, C. Robbins, and S. Saggar for technical support, S. Sommer for advice on the ddF procedure, D. Leja for assistance in preparing the illustrations, and P. Fakunding for manuscript preparation. Supported by the intramural research programs of NHGRI, NIDDK, NCI, and NLM, the Fritz Thyssen Stiftung Fund (C.H.), and a U.S. Department of Energy Graduate Fellowship (J.S.C.).
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-
-
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