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Items: 1 to 50 of 100

1.

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC.

Am J Hum Genet. 2008 Mar;82(3):712-22. doi: 10.1016/j.ajhg.2008.01.011. Erratum in: Am J Hum Genet. 2008 Sep;83(3):425-7.

2.

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

Kim HG, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF.

Am J Med Genet A. 2007 Jan 15;143A(2):107-11.

PMID:
17163523
3.

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.

Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF.

J Med Genet. 2005 Aug;42(8):666-72. No abstract available.

4.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

5.

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21.

PMID:
10937588
6.

Report and abstracts of the third international workshop on human chromosome 1 mapping 1997.

Vance JM, Matise TC, Wooster R, Schutte BC, Bruns GA, van Roy N, Brodeur GM, Tao YX, Gregory S, Weith A, Vaudin M, White P.

Cytogenet Cell Genet. 1997;78(3-4):154-82. No abstract available.

PMID:
9465885
7.

Report of the second international workshop on human chromosome 1 mapping 1995.

Weith A, Brodeur GM, Bruns GA, Matise TC, Mischke D, Nizetic D, Seldin MF, van Roy N, Vance J.

Cytogenet Cell Genet. 1996;72(2-3):114-44. No abstract available.

PMID:
8978760
8.

(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.

Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM.

Hum Mol Genet. 1994 May;3(5):841. No abstract available.

PMID:
8081380
9.

Identification of a simple sequence polymorphism within the mouse locus D12Nyu2.

Guay-Woodford LM, Bruns GA, D'Eustachio P.

Mamm Genome. 1994 Apr;5(4):251-2. No abstract available. Erratum in: 1994 Oct;5(10):658.

PMID:
8012120
10.

Report and abstracts of the First International Workshop on Human Chromosome 1 Mapping 1994. Bethesda, Maryland, March 25-27, 1994.

Dracopoli NC, Bruns GA, Brodeur GM, Landes GM, Matise TC, Seldin MF, Vance JM, Weith A.

Cytogenet Cell Genet. 1994;67(3):144-65. No abstract available.

PMID:
8062592
11.

Sequence of the WT1 upstream region including the Wit-1 gene.

Gessler M, Bruns GA.

Genomics. 1993 Aug;17(2):499-501.

PMID:
8406502
12.

pMCT108.2 is a chimaeric clone which physically maps to human chromosome bands 9q33 (D9S203) and 18q21.1 (D18S24).

Lia KM, Bruns GA, LeBeau MM, Silverman GA.

Hum Mol Genet. 1993 Mar;2(3):332. No abstract available.

PMID:
8499927
13.

Reassignment of pEFD70.3 (D18S23) to human chromosome band 21q22.2 (D21S412) by physical mapping.

Silverman GA, Jenkins R, Bruns GA, LeBeau MM.

Hum Mol Genet. 1993 Mar;2(3):331. No abstract available.

PMID:
8499926
14.
15.

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP, et al.

Am J Hum Genet. 1992 Jul;51(1):38-44.

16.

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM.

J Biol Chem. 1992 May 5;267(13):9281-8.

17.

The genomic organization and expression of the WT1 gene.

Gessler M, König A, Bruns GA.

Genomics. 1992 Apr;12(4):807-13.

PMID:
1572653
18.
19.

Alternatively spliced ltk mRNA in neurons predicts a receptor with a larger putative extracellular domain.

Haase VH, Snijders AJ, Cooke SM, Teng MN, Kaul D, Le Beau MM, Bruns GA, Bernards A.

Oncogene. 1991 Dec;6(12):2319-25.

PMID:
1662793
20.
21.

On the structure and chromosome location of the 72- and 92-kDa human type IV collagenase genes.

Collier IE, Bruns GA, Goldberg GI, Gerhard DS.

Genomics. 1991 Mar;9(3):429-34.

PMID:
1851724
22.

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.

Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, Hanson MP, Rich J, McFarlane H, Yasek DM, et al.

Science. 1990 Nov 16;250(4983):1000-2.

PMID:
2173143
24.

Role for the Wilms tumor gene in genital development?

van Heyningen V, Bickmore WA, Seawright A, Fletcher JM, Maule J, Fekete G, Gessler M, Bruns GA, Huerre-Jeanpierre C, Junien C, et al.

Proc Natl Acad Sci U S A. 1990 Jul;87(14):5383-6.

25.

DXS26 (HU16) is located in Xq21.1.

Sankila EM, Bruns GA, Schwartz M, Nikoskelainen E, Niebuhr E, Hodgson SV, Wright AF, de la Chapelle A.

Hum Genet. 1990 Jun;85(1):117-20.

PMID:
2162804
26.

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping.

Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA.

Nature. 1990 Feb 22;343(6260):774-8.

PMID:
2154702
27.

The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome.

Zon LI, Tsai SF, Burgess S, Matsudaira P, Bruns GA, Orkin SH.

Proc Natl Acad Sci U S A. 1990 Jan;87(2):668-72.

28.

Report of the committee on the genetic constitution of chromosome 1.

Bruns GA, Dracopoli NC.

Cytogenet Cell Genet. 1990;55(1-4):77-85. Review. No abstract available.

PMID:
2073846
29.

A physical map around the WAGR complex on the short arm of chromosome 11.

Gessler M, Bruns GA.

Genomics. 1989 Jul;5(1):43-55.

PMID:
2570029
30.

Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.

Gessler M, Simola KO, Bruns GA.

Science. 1989 Jun 30;244(4912):1575-8.

PMID:
2544995
31.

Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome.

Shelley CS, Remold-O'Donnell E, Davis AE 3rd, Bruns GA, Rosen FS, Carroll MC, Whitehead AS.

Proc Natl Acad Sci U S A. 1989 Apr;86(8):2819-23. Erratum in: Proc Natl Acad Sci U S A 1989 Jun;86(12):4689.

32.

A deletion map of the WAGR region on chromosome 11.

Gessler M, Thomas GH, Couillin P, Junien C, McGillivray BC, Hayden M, Jaschek G, Bruns GA.

Am J Hum Genet. 1989 Apr;44(4):486-95.

33.

Report of the committee on the genetic constitution of chromosome 1.

Bruns GA, Sherman SL.

Cytogenet Cell Genet. 1989;51(1-4):67-90. Review. No abstract available.

PMID:
2676387
35.
36.

Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis.

Kwiatkowski DJ, Bruns GA.

J Biol Chem. 1988 Apr 25;263(12):5910-5.

37.

Human GAP-43: its deduced amino acid sequence and chromosomal localization in mouse and human.

Kosik KS, Orecchio LD, Bruns GA, Benowitz LI, MacDonald GP, Cox DR, Neve RL.

Neuron. 1988 Apr;1(2):127-32.

PMID:
3272162
38.

Localization of gelsolin proximal to ABL on chromosome 9.

Kwiatkowski DJ, Westbrook CA, Bruns GA, Morton CC.

Am J Hum Genet. 1988 Apr;42(4):565-72.

39.

Human corticotropin releasing hormone gene is located on the long arm of chromosome 8.

Arbiser JL, Morton CC, Bruns GA, Majzoub JA.

Cytogenet Cell Genet. 1988;47(3):113-6.

PMID:
3259914
40.

Report of the committee on the genetic constitution of chromosome 1.

Sherman SL, Bruns GA.

Cytogenet Cell Genet. 1988;49(1-3):39-45. No abstract available.

PMID:
3203546
41.

Nature of recombination involved in excision and rearrangement of human repetitive DNA.

Kiyama R, Okumura K, Matsui H, Bruns GA, Kanda N, Oishi M.

J Mol Biol. 1987 Dec 20;198(4):589-98.

PMID:
3502700
42.

Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4.

Goldberger G, Bruns GA, Rits M, Edge MD, Kwiatkowski DJ.

J Biol Chem. 1987 Jul 25;262(21):10065-71.

43.

Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.

Ramesh V, Eddy R, Bruns GA, Shih VE, Shows TB, Gusella JF.

Hum Genet. 1987 Jun;76(2):121-6.

PMID:
2886418
44.

An anonymous DNA segment (II227) maps to the long arm of human chromosome 5 and identifies a BstXI polymorphism (D5S26).

Stewart GD, Bruns GA, Wasmuth JJ, Kurnit DM.

Nucleic Acids Res. 1987 May 11;15(9):3939. No abstract available.

45.

The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice.

Gold DP, van Dongen JJ, Morton CC, Bruns GA, van den Elsen P, Geurts van Kessel AH, Terhorst C.

Proc Natl Acad Sci U S A. 1987 Mar;84(6):1664-8.

46.

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.

Tanzi RE, Gusella JF, Watkins PC, Bruns GA, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL.

Science. 1987 Feb 20;235(4791):880-4.

PMID:
2949367
47.

A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32.

Weis JH, Morton CC, Bruns GA, Weis JJ, Klickstein LB, Wong WW, Fearon DT.

J Immunol. 1987 Jan 1;138(1):312-5.

PMID:
3782802
48.

A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity.

Van Keuren ML, Hart IM, Kao FT, Neve RL, Bruns GA, Kurnit DM, Patterson D.

Cytogenet Cell Genet. 1987;44(2-3):142-7.

PMID:
3568763
49.

Report of the committee on the genetic-constitution of chromosomes 1 and 2.

Morton NE, Bruns GA.

Cytogenet Cell Genet. 1987;46(1-4):102-30. No abstract available.

PMID:
3507269
50.

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