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1

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)

McQuade, Leon, Christodoulou, John, Budarf, Marcia, Sachdev, Rani, Wilson, Meredith, Emanuel, Beverly, Colley, Alison

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 280 KB

english, 1999

2

Narrowing the critical region for a rhabdoid tumor locus in 22q11

Jaclyn A. Biegel, Cindy S. Allen, Kazuhiko Kawasaki, Nobuyoshi Shimizu, Marcia L. Budarf, Callum J. Bell

Journal:

Genes, Chromosomes and Cancer

Year:

1996

Language:

english

File:

PDF, 1.15 MB

english, 1996

3

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

Dr. Deborah A. Driscoll, Nancy B. Spinner, Marcia L. Budarf, Donna M. McDonald-McGinn, Elaine H. Zackai, Rosalie B. Goldberg, Robert J. Shprintzen, Howard M. Saal, Jonathan Zonana, Marilyn C. Jones, J

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 578 KB

english, 1992

4

Molecular and cytogenetic studies of a patient with philadelphia-negative, BCR-positive chronic myeloid leukemia and t(12;12)(q13;p12)

Dr. Alfonso Zaccaria, Nicoletta Testoni, Angela Tassinari, Bommina Celso, Beverly S. Emanuel, Marcia Budarf, Giuseppe Saglio, Angelo Guerrasio, Cosimo Barletta, Cesare Peschle, Sante Tura

Journal:

Genes, Chromosomes and Cancer

Year:

1990

Language:

english

File:

PDF, 443 KB

english, 1990

5

Physical location of the human immunoglobulin lambda-like genes,14.1, 16.1,and16.2

Thomas R. Bauer, Heather E. McDermid, Marcia L. Budarf, Margaret L. Keuren, Bonnie B. Blomberg

Journal:

Year:

1993

Language:

english

File:

PDF, 1.44 MB

english, 1993

6

The humanVpreBgene is located on chromosome 22 near a cluster of({ ext{V}}_{lambda _1 } )gene segments

Steven R. Bauer, Kay Huebner, Marcia Budarf, Janet Finan, Jan Erikson, Beverly S. Emanuel, Peter C. Nowell, Carlo M. Croce, Fritz Melchers

Journal:

Year:

1988

Language:

english

File:

PDF, 714 KB

english, 1988

7

Conserved gene structure and genomic linkage for D-dopachrome tautomerase (DDT) and MIF

Noriko Esumi, Marcia Budarf, Lawrence Ciccarelli, Beatrice Sellinger, Christine A. Kozak, Graeme Wistow

Journal:

Mammalian Genome

Year:

1998

Language:

english

File:

PDF, 218 KB

english, 1998

8

Characterization ofCDC45L:a gene in the 22q11.2 deletion region expressed during murine and human development

Tamim H. Shaikh, Shoshanna Gottlieb, Beatrice Sellinger, Feng Chen, Bruce A. Roe, Rebecca J. Oakey, Beverly S. Emanuel, Marcia L. Budarf

Journal:

Mammalian Genome

Year:

1999

Language:

english

File:

PDF, 2.13 MB

english, 1999

9

Identification of seagrasses in the gut of a marine herbivorous fish using DNA barcoding and visual inspection techniques

A. Chelsky Budarf, D. D. Burfeind, W. K. W. Loh, I. R. Tibbetts

Journal:

Journal of Fish Biology

Year:

2011

Language:

english

File:

PDF, 808 KB

english, 2011

10

A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles

Budarf, M L, Goyette, P, Boucher, G, Lian, J, Graham, R R, Claudio, J O, Hudson, T, Gladman, D, Clarke, A E, Pope, J E

Journal:

Genes and Immunity

Year:

2010

Language:

english

File:

PDF, 335 KB

english, 2010

11

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

Bailey, L. Charles, Sellinger, Bea, Michaud, Dominique, Driscoll, Deborah A., Emanuel, Beverly S., Budarf, Marcia L., Collins, Joelle, Gong, Weilong, Roe, Bruce, Wang, Zhili

Journal:

Nature Genetics

Year:

1995

File:

PDF, 1.26 MB

1995

12

Sequence-ready physical map of the mouse Chromosome 16 region with conserved synteny to the human Velocardiofacial syndrome region on 22q11.2

James Lund, Bruce Roe, Feng Chen, Marcia Budarf, Naomi Galili, Roy Riblet, Robert D. Miller, Beverly S. Emanuel, Roger H. Reeves

Journal:

Mammalian Genome

Year:

1999

Language:

english

File:

PDF, 418 KB

english, 1999

13

GWA studies: rewriting the story of IBD

Marcia L. Budarf, Catherine Labbé, Geneviève David, John D. Rioux

Journal:

Trends in Genetics

Year:

2009

Language:

english

File:

PDF, 829 KB

english, 2009

14

A Set of STS Assays Targeting the Chromosome 22 Physical Framework Markers

Mia MacCollin, Donna Romano, Marcia Budarf, Christopher Denny, James Trofatter, Anil Menon, Guy Rouleau, Bertrand Fontaine, Beverly Emanuel, James Gusella

Journal:

Year:

1993

File:

PDF, 199 KB

1993

15

A Panel of Sequence Tagged Sites for Chromosome Band 11q23

Alan Tunnacliffe, Helen Perry, Paolo Radice, Marcia L. Budarf, Beverly S. Emanuel

Journal:

Year:

1993

File:

PDF, 230 KB

1993

16

Long-Range Restriction Map of Human Chromosome 22q11-22q12 between the Lambda Immunoglobulin Locus and the Ewing Sarcoma Breakpoint

H.E. McDermid, M.L. Budarf, B.S. Emanuel

Journal:

Year:

1993

File:

PDF, 718 KB

1993

17

A Microsatellite-Based Multipoint Index Map of Human Chromosome 22

Kenneth H. Buetow, David Duggan, Bosheng Yang, Susan Ludwigsen, Jennifer Puck, Joanne Porter, Marcia Budarf, Richard Spielman, Beverly S. Emanuel

Journal:

Year:

1993

File:

PDF, 430 KB

1993

18

Isolation and Regional Mapping of 110 Chromosome 22 STSs

Thomas J. Hudson, Angela M.E. Colbert, Mary Pat Reeve, Jane S. Bae, Matthias K. Lee, Robert L. Nussbaum, Marcia L. Budarf, Beverly S. Emanuel, Simon Foote

Journal:

Year:

1994

File:

PDF, 280 KB

1994

19

Cloning, Genomic Organization, and Chromosomal Localization of Human Citrate Transport Protein to the DiGeorge/Velocardiofacial Syndrome Minimal Critical Region

Elizabeth Goldmuntz, Zhili Wang, Bruce A. Roe, Marcia L. Budarf

Journal:

Year:

1996

Language:

english

File:

PDF, 112 KB

english, 1996

20

Regional Localization of over 300 Loci on Human Chromosome 22 Using a Somatic Cell Hybrid Mapping Panel

Marcia L. Budarf, Barbara Eckman, Dominique Michaud, Terrence McDonald, Stacey Gavigan, Kenneth H. Buetow, Yvonne Tatsumura, Zonglu Liu, Catherine Hilliard, Deborah Driscoll, Elizabeth Goldmuntz, Ecka

Journal:

Year:

1996

Language:

english

File:

PDF, 567 KB

english, 1996

21

PMM (PMM1), the Human Homologue ofSEC53or Yeast Phosphomannomutase, Is Localized on Chromosome 22q13

Gert Matthijs, Els Schollen, Michel Pirard, Marcia L. Budarf, Emile Van Schaftingen, Jean-Jacques Cassiman

Journal:

Year:

1997

Language:

english

File:

PDF, 292 KB

english, 1997

22

Localization of the Human Gene for Macrophage Migration Inhibitory Factor (MIF) to Chromosome 22q11.2

Marcia Budarf, Terrence McDonald, Beatrice Sellinger, Christine Kozak, Caroline Graham, Graeme Wistow

Journal:

Year:

1997

Language:

english

File:

PDF, 157 KB

english, 1997

23

Isolation and Characterization of a Gene from the DiGeorge Chromosomal Region Homologous to the MouseTbx1Gene

Carla Chieffo, Nancy Garvey, Weilong Gong, Bruce Roe, Guozhong Zhang, Lee Silver, Beverly S. Emanuel, Marcia L. Budarf

Journal:

Year:

1997

Language:

english

File:

PDF, 752 KB

english, 1997

24

Comparative Sequence Analysis of 634 kb of the Mouse Chromosome 16 Region of Conserved Synteny with the Human Velocardiofacial Syndrome Region on Chromosome 22q11.2

James Lund, Feng Chen, Axin Hua, Bruce Roe, Marcia Budarf, Beverly S. Emanuel, Roger H. Reeves

Journal:

Year:

2000

Language:

english

File:

PDF, 377 KB

english, 2000

25

Assignment of the human hippocampal inward rectifier potassium channel (HIR) gene to 22q13.1

Marcia L. Budarf, François Périer, Barry L. Barnoski, Callum J. Bell, Carol A. Vandenberg

Journal:

Year:

1995

Language:

english

File:

PDF, 489 KB

english, 1995

26

Structural analysis of the human pro-apoptotic gene Bik: Chromosomal localization, genomic organization and localization of promoter sequences

Suleka Verma, Marcia L. Budarf, Beverly S. Emanuel, G. Chinnadurai

Journal:

Year:

2000

Language:

english

File:

PDF, 378 KB

english, 2000

27

Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region

Elizabeth Goldmuntz, Jason Fedon, Bruce Roe, Marcia L Budarf

Journal:

Year:

1997

Language:

english

File:

PDF, 227 KB

english, 1997

28

Reply to Pragliola et al.

S. Gottlieb, B.S. Emanuel, M.L. Budarf

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 55 KB

english, 1997

29

Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype

Shoshanna Gottlieb, Deborah A. Driscoll, Hope H. Punnett, Beatrice Sellinger, Beverly S. Emanuel, Marcia L. Budarf

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 392 KB

english, 1998

30

Transcription Factors and Human Disease.

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 25 KB

english, 1999

31

Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families

Tamim H. Shaikh, Marcia L. Budarf, Livija Celle, Elaine H. Zackai, Beverly S. Emanuel

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 553 KB

english, 1999

32

Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)

Hiroki Kurahashi, Tamim H. Shaikh, Elaine H. Zackai, Livija Celle, Deborah A. Driscoll, Marcia L. Budarf, Beverly S. Emanuel

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 612 KB

english, 2000

33

PRESENCE OF A PRE-SEQUENCE (SIGNAL SEQUENCE) IN THE COMMON PRECURSOR TO ACTH AND ENDORPHIN AND THE ROLE OF GLYCOSYLATION IN PROCESSING OF THE PRECURSOR AND SECRETION OF ACTH AND ENDORPHIN

Edward Herbert, Marcia Budarf, Marjorie Phillips, Patricia Rosa, Paul Policastro, Edward Oates, James L. Roberts, Nabil G. Seidah, Michel Chrétien

Journal:

Annals of the New York Academy of Sciences

Year:

1980

Language:

english

File:

PDF, 1.00 MB

english, 1980

34

Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1âq11.2

Grossman, M.H., Emanuel, B.S., Budarf, M.L.

Journal:

Year:

1992

Language:

english

File:

PDF, 936 KB

english, 1992

35

Assignment of the human intestinal Na+/glucose cotransporter gene (SGLT1) to the q11.2 → qter region of chromosome 22

Hediger, Matthias A., Budarf, Marcia L., Emanuel, Beverly S., Mohandas, T.K., Wright, Ernest M.

Journal:

Year:

1989

Language:

english

File:

PDF, 1.46 MB

english, 1989

36

A map of 22 loci on human chromosome 22

Dumanski, Jan P., Carlbom, Elisabeth, Collins, V.Peter, Nordenskjöld, Magnus, Emanuel, Beverly S., Budarf, Marcia L., McDermid, Heather E., Wolff, Roger, O'Connell, Peter, White, Ray, Lalouel, Jean-Ma

Journal:

Year:

1991

Language:

english

File:

PDF, 1.15 MB

english, 1991

37

Speciality resins and curing agents agreement

McDermid, Heather E., Budarf, Marcia L., Emanuel, Beverly S.

Journal:

Additives for Polymers

Year:

1988

Language:

english

File:

PDF, 125 KB

english, 1988

38

Toward a long-range map of human chromosomal band 22q11

McDermid, Heather E., Budarf, Marcia L., Emanuel, Beverly S.

Journal:

Year:

1989

Language:

english

File:

PDF, 1.38 MB

english, 1989

39

PARIS.

McDermid, Heather E., Budarf, Marcia L., Emanuel, Beverly S.

Journal:

Year:

1894

Language:

english

File:

PDF, 411 KB

english, 1894

40

A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus

Frazer, Kelly A., Boehnke, Michael, Budarf, Marcia L., Wolff, Roger K., Emanuel, Beverly S., Myers, Richard M., Cox, David R.

Journal:

Year:

1992

Language:

english

File:

PDF, 1.15 MB

english, 1992

41

Linear order of the four BCR-related loci in 22q11

Journal:

Year:

1988

Language:

english

File:

PDF, 799 KB

english, 1988

42

Assignment of the erythropoietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19

Budarf, M., Huebner, K., Emanuel, B., Croce, C.M., Copeland, N.G., Jenkins, N.A., D'Andrea, A.D.

Journal:

Year:

1990

Language:

english

File:

PDF, 556 KB

english, 1990

43

Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22

Budarf, Marcia L., McDermid, Heather E., Sellinger, Beatrice, Emanuel, Beverly S.

Journal:

Year:

1991

Language:

english

File:

PDF, 1.20 MB

english, 1991

44

Antenatal diagnosis of DiGeorge syndrome

Driscoll, DeborahA., Budarf, MarciaL., Emanuel, BeverlyS.

Journal:

Year:

1991

Language:

english

File:

PDF, 331 KB

english, 1991

45

t(11;22)(q23;q11.2) in Acute Myeloid Leukemia of Infant Twins Fuses MLL with hCDCrel, a Cell Division Cycle Gene in the Genomic Region of Deletion in DiGeorge and Velocardiofacial Syndromes

Maureen D. Megonigal, Eric F. Rappaport, Douglas H. Jones, Terence M. Williams, Brian D. Lovett, Kara M. Kelly, Paul H. Lerou, Thomas Moulton, Marcia L. Budarf and Carolyn A. Felix

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.78 MB

english, 1998

46

Selective reduction of proadrenocorticotropin/endorphin proteins and messenger ribonucleic acid activity in mouse pituitary tumor cells by glucocorticoids

Roberts, James L., Budarf, Marcia L., Baxter, John D., Herbert, Edward

Journal:

Year:

1979

Language:

english

File:

PDF, 2.82 MB

english, 1979

47

Glycosylation events in the processing and secretion of pro-ACTH-endorphin in mouse pituitary tumor cells

Phillips, Marjorie A., Budarf, Marcia L., Herbert, Edward

Journal:

Year:

1981

Language:

english

File:

PDF, 3.27 MB

english, 1981

48

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.14 MB

english, 1993

49

Molecular Cloning and Characterization of the Bovine and Human Tuftelin Genes

Bashir, Muhammad M., Abrams, William R., Tucker, Thomas, Sellinger, Beatrice, Budarf, Marcia, Emanuel, Beverly, Rosenbloom, Joel

Journal:

Connective Tissue Research

Year:

1998

Language:

english

File:

PDF, 1.33 MB

english, 1998

50

The Human "Peripheral-Type" Benzodiazepine Receptor: Regional Mapping of the Gene and Characterization of the Receptor Expressed from cDNA

CHANG, YUEH J., McCABE, R. TYLER, RENNERT, HANNA, BUDARF, MARCIA L., SAYEGH, RAJA, EMANUEL, BEVERLY S., SKOLNICK, PHIL, STRAUSS, JEROME F.

Journal:

DNA and Cell Biology

Year:

1992

Language:

english

File:

PDF, 3.49 MB

english, 1992