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1

Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study

Orna Levran, Raffaella Diotti, Kanan Pujara, Sat D. Batish, Helmut Hanenberg, Arleen D. Auerbach

Journal:

Year:

2005

Language:

english

File:

PDF, 238 KB

english, 2005

2

Clarity and claims in variation/mutation databasing

Dalgleish, Raymond, Oetting, William S, Auerbach, Arleen D, Beckmann, Jacques S, Cambon-Thomsen, Anne, Devereau, Andrew, Greenblatt, Marc S, Patrinos, George P, Taylor, Graham R, Vihinen, Mauno, Brook

Journal:

Nature Biotechnology

Year:

2011

Language:

english

File:

PDF, 155 KB

english, 2011

3

DNA amplification for DQ typing as an adjunct to serological prenatal HLA typing for the identification of potential donors for umbilical cord blood transplantation

Pollack, Marilyn S., Auerbach, Arleen D., Broxmeyer, Hal E., Zaafran, Akila, Griffith, Robert L., Erlich, Henry A.

Journal:

Human Immunology

Year:

1991

Language:

english

File:

PDF, 475 KB

english, 1991

4

Disorders of DNA replication and repair

Auerbach, Arleen D., Verlander, Peter C.

Journal:

Current Opinion in Pediatrics

Year:

1997

File:

PDF, 1.75 MB

1997

5

Possible new variant of Nijmegen breakage syndrome

Der Kaloustian, Vazken M., Kleijer, Wim, Booth, Ann, Auerbach, Arleen D., Mazer, Bruce, Elliott, Alison M., Abish, Sharon, Usher, Robert, Watters, Gordon, Vekemans, Michel, Eydoux, Patrice

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 611 KB

english, 1996

6

Diagnosis of Fanconi anemia in patients without congenital malformations: An international Fanconi anemia registry study

Giampietro, Philip F., Verlander, Peter C., Davis, Jessica G., Auerbach, Arleen D.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 92 KB

english, 1997

7

Interstitial lung disease in an adult with Fanconi anemia: Clues to the pathogenesis

Rubinstein, Wendy S., Wenger, Sharon L., Hoffman, Robert M., Auerbach, Arleen D., Mulvihill, John J.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 283 KB

english, 1997

8

New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia

Giampietro, Philip F., Auerbach, Arleen D., Elias, Ellen R., Gutman, Alyson, Zellers, Nancy J., Davis, Jessica G.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 207 KB

english, 1998

9

Identification of Alu-mediated deletions in the Fanconi anemia gene FAA

Orna Levran, Norman A. Doggett, Arleen D. Auerbach

Journal:

Year:

1998

Language:

english

File:

PDF, 501 KB

english, 1998

10

Mutation Database Meeting, 27th March 1998

Arleen D. Auerbach, Richard G. H. Cotton

Journal:

Year:

1998

Language:

english

File:

PDF, 136 KB

english, 1998

11

New molecular diagnostic tests for two congenital forms of anemia

Arleen D. Auerbach, Peter C. Verlander, Kevin E. Brown, Johnson M. Liu

Journal:

Journal of Clinical Laboratory Analysis

Year:

1997

Language:

english

File:

PDF, 34 KB

english, 1997

12

8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada

Arleen D. Auerbach

Journal:

Year:

2000

Language:

english

File:

PDF, 134 KB

english, 2000

13

Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor

Bella Bielorai, Mark R. Hughes, Arleen D. Auerbach, Arnon Nagler, Ron Loewenthal, Gideon Rechavi, Amos Toren

Journal:

American Journal of Hematology

Year:

2004

Language:

english

File:

PDF, 61 KB

english, 2004

14

Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia

Dr. Arleen D. Auerbach, Michael A. Weiner, Dorothy Warburton, Kwame Yeboa, Li Lu, Hal E. Broxmeyer

Journal:

American Journal of Hematology

Year:

1982

Language:

english

File:

PDF, 1.45 MB

english, 1982

15

Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia

Carol L. Alter, Dr. Paul H. Levine, John Bennett, Craig Kessler, Margaret Rick, Ronald G. Washburn, John I. Gallin, Robert W. Miller, Arleen D. Auerbach

Journal:

American Journal of Hematology

Year:

1989

Language:

english

File:

PDF, 574 KB

english, 1989

16

Monozygotic twin girls with congenital malformations resembling Fanconi anemia

Steven R. Poole, Ann C. M. Smith, Taru Hays, Loris McGavran, Arleen D. Auerbach

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 492 KB

english, 1992

17

Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study

Arleen D. Auerbach, Jason Greenbaum, Kanan Pujara, Sat Dev Batish, Marco A. Bitencourt, Indira Kokemohr, Hildegard Schneider, Stephan Lobitzc, Ricardo Pasquini, Philip F. Giampietro, Helmut Hanenberg,

Journal:

Year:

2003

Language:

english

File:

PDF, 214 KB

english, 2003

18

Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study

Arleen D. Auerbach, Jason Greenbaum, Kanan Pujara, Sat Dev Batish, Marco A. Bitencourt, Indira Kokemohr, Hildegard Schneider, Stephan Lobitz, Ricardo Pasquini, Philip F. Giampietro, Helmut Hanenberg,

Journal:

Year:

2003

Language:

english

File:

PDF, 54 KB

english, 2003

19

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, Lauren Hardman, Michael Watson, Aida I. Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge T. Bernstein, J

Journal:

Year:

2009

Language:

english

File:

PDF, 244 KB

english, 2009

20

Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group

Abdullah Mahmood Ali, Michelle Kirby, Michael Jansen, Francis P. Lach, Jennifer Schulte, Thiyam Ramsing Singh, Sat D. Batish, Arleen D. Auerbach, David A. Williams, Amom Ruhikanta Meetei

Journal:

Year:

2009

Language:

english

File:

PDF, 512 KB

english, 2009

21

How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

Maija R.J. Kohonen-Corish, Jumana Y. Al-Aama, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Béroud, John Burn, Fiona Cunningham, Garry R. Cutting, Johan T. den Dun

Journal:

Year:

2010

Language:

english

File:

PDF, 166 KB

english, 2010

22

Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation

Poh-Lin Tan, John E. Wagner, Arleen D. Auerbach, Todd E. DeFor, Arne Slungaard, Margaret L. MacMillan

Journal:

Pediatric Blood & Cancer

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

23

Chemotherapy for myeloid malignancy in children with Fanconi anemia

Parinda A. Mehta, Talia Ileri, Richard E. Harris, David A. Williams, Jun Mo, Teresa Smolarek, Arleen D. Auerbach, Patrick Kelly, Stella M. Davies

Journal:

Pediatric Blood & Cancer

Year:

2007

Language:

english

File:

PDF, 107 KB

english, 2007

24

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations

Kasiani Myers, Stella M. Davies, Richard E. Harris, Sheri L. Spunt, Teresa Smolarek, Sarah Zimmerman, Richard McMasters, Lars Wagner, Robin Mueller, Arleen D. Auerbach, Parinda A. Mehta

Journal:

Pediatric Blood & Cancer

Year:

2012

Language:

english

File:

PDF, 76 KB

english, 2012

25

First announcement of the Fanconi anemia International Registry

Arleen D. Auerbach, Traute M. Schroeder

Journal:

Year:

1982

Language:

english

File:

PDF, 40 KB

english, 1982

26

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia

Arleen D. Auerbach, Zhang Min, Rita Ghosh, Eugene Pergament, Yuri Verlinsky, Henriette Nicolas, Joëlle Boué

Journal:

Year:

1986

Language:

english

File:

PDF, 282 KB

english, 1986

27

FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses

Fan Zhang, Qiang Fan, Keqin Ren, Arleen D. Auerbach, Paul R. Andreassen

Journal:

Year:

2010

Language:

english

File:

PDF, 601 KB

english, 2010

28

Fanconi anemia in Ashkenazi Jews

David I. Kutler, Arleen D. Auerbach

Journal:

Familial Cancer

Year:

2004

Language:

english

File:

PDF, 744 KB

english, 2004

29

Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts

Farid Boulad, Alfred Gillio, Trudy N. Small, Diane George, Vinod Prasad, Joanne Torok-Castanza, Anne D. Regan, Nancy Collins, Arleen D. Auerbach, Nancy A. Kernan, Richard J. O'reilly

Journal:

British Journal of Haematology

Year:

2000

Language:

english

File:

PDF, 96 KB

english, 2000

30

GST genotype may modify clinical phenotype in patients with Fanconi anaemia

Stella M. Davies, Gretchen A. Radloff, Todd E. DeFor, Orna Levran, Sat Dev Batish, Helmut Hanenberg, Arleen D. Auerbach

Journal:

British Journal of Haematology

Year:

2005

Language:

english

File:

PDF, 107 KB

english, 2005

31

Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience

Azadeh Farzin, Stella M. Davies, Franklin O. Smith, Alexandra Filipovich, Matthew Hansen, Arleen D. Auerbach, Richard E. Harris

Journal:

British Journal of Haematology

Year:

2007

Language:

english

File:

PDF, 538 KB

english, 2007

32

Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia

Sonali Chaudhury, Arleen D. Auerbach, Nancy A. Kernan, Trudy N. Small, Susan E. Prockop, Andromachi Scaradavou, Glenn Heller, Suzanne Wolden, Richard J. O’Reilly, Farid Boulad

Journal:

British Journal of Haematology

Year:

2008

Language:

english

File:

PDF, 231 KB

english, 2008

33

Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens

AUERBACH, ARLEEN D., WOLMAN, SANDRA R.

Journal:

Year:

1976

File:

PDF, 584 KB

1976

34

Carcinogen-induced chromosome breakage in Fanconi's anaemia heterozygous cells

AUERBACH, ARLEEN D., WOLMAN, SANDRA R.

Journal:

Year:

1978

File:

PDF, 390 KB

1978

35

Mutations of the SLX4 gene in Fanconi anemia

Kim, Yonghwan, Lach, Francis P, Desetty, Rohini, Hanenberg, Helmut, Auerbach, Arleen D, Smogorzewska, Agata

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 820 KB

english, 2011

36

Recommendations of the 2006 Human Variome Project meeting

Cotton, Richard G.H., Appelbe, William, Auerbach, Arleen D, Becker, Kevin, Bodmer, Walter, Boone, D Joe, Boulyjenkov, Victor, Brahmachari, Samir, Brody, Lawrence, Brookes, Anthony

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 118 KB

english, 2007

37

Mutation (variation) databases and registries: a rationale for coordination of efforts

Auerbach, Arleen D., Burn, John, Cassiman, Jean-Jacques, Claustres, Mireille, Cotton, Richard G. H., Cutting, Garry, den Dunnen, Johan T., El-Ruby, Mona, Vargas, Aida Falcon, Greenblatt, Marc S., Macr

Journal:

Nature Reviews Genetics

Year:

2011

Language:

english

File:

PDF, 112 KB

english, 2011

38

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

Ling, Chen, Ishiai, Masamichi, Ali, Abdullah Mahmood, Medhurst, Annette L, Neveling, Kornelia, Kalb, Reinhard, Yan, Zhijiang, Xue, Yutong, Oostra, Anneke B, Auerbach, Arleen D

Journal:

The EMBO Journal

Year:

2007

Language:

english

File:

PDF, 378 KB

english, 2007

39

Human umbilical cord blood: A clinically useful source of transplantable hematopoietic stem/progenitor cells

Hal E. Broxmeyer, Scott Cooper, Giao Hangoc, Eliane Gluckman, Arleen Auerbach, Gordon W. Douglas, Henry Friedman, Joanne Kurtzberg, Judith Bard, Edward A. Boyse

Journal:

Year:

1990

Language:

english

File:

PDF, 999 KB

english, 1990

40

Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs

Linda Hartmann, Kornelia Neveling, Stephanie Borkens, Hildegard Schneider, Marcel Freund, Elke Grassman, Stephan Theiss, Angela Wawer, Stefan Burdach, Arleen D. Auerbach, Detlev Schindler, Helmut Hane

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 893 KB

english, 2010

41

Fanconi anemia and its diagnosis

Arleen D. Auerbach

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

2009

Language:

english

File:

PDF, 634 KB

english, 2009

42

Fanconi's anaemia and pregnancy

Blanche P. Alter, Christine L. Frissora, Daniel S. Halpéirin, Melvin H. Freedman, Usha Chitkara, Emanuel Alvarez, Lauren Lynch, Barbara Adler-Brecher, Arleen D. Auerbach

Journal:

British Journal of Haematology

Year:

1991

Language:

english

File:

PDF, 836 KB

english, 1991

43

Haemopoietic stem/progenitor cell transplant in Fanconi anaemia using HLA-matched sibling umbilical cord blood cells

Mudra Kohli-Kumar, Nasorullah T. Shahidi, Hal E. Broxmeyer, Margaret Masterson, Cynthia Delaat, James Sambrano, Christopher Morris, Arleen D. Auerbach, Richard E. Harris

Journal:

British Journal of Haematology

Year:

1993

Language:

english

File:

PDF, 344 KB

english, 1993

44

A trial of recombinant human superoxide dismutase in patients with Fanconi anaemia

Johnson M. Liu, Arleen D. Auerbach, Stacie M. Anderson, Spencer W. Green, Neal S. Young

Journal:

British Journal of Haematology

Year:

1993

Language:

english

File:

PDF, 284 KB

english, 1993

45

FANCONI ANEMIA: A MODEL FOR GENETIC CAUSES OF ABNORMAL BRAIN DEVELOPMENT

Steven G. Pavlakis, Robert J. Gould, Philip F. Giampietro, Jessica G. Davis, Arleen D. Auerbach, Barbara Adler-Brecher, Christine L. Frissora

Journal:

Developmental Medicine & Child Neurology

Year:

1992

Language:

english

File:

PDF, 330 KB

english, 1992

46

Hematopoietic Reconstitution in a Patient with Fanconi's Anemia by Means of Umbilical-Cord Blood from an HLA-Identical Sibling

Gluckman, Eliane, Broxmeyer, Hal E., Auerbach, Arleen D., Friedman, Henry S., Douglas, Gordon W., Devergie, Agnès, Esperou, Hélène, Thierry, Dominique, Socie, Gérard, Lehn, Pierre

Journal:

Boston Medical and Surgical Journal

Year:

1989

Language:

english

File:

PDF, 2.11 MB

english, 1989

47

The Genomic Organization of the Fanconi Anemia Group A (FAA) Gene

Leonarda Ianzano, Maria d'Apolito, Marta Centra, Maria Savino, Orna Levran, Arleen D. Auerbach, Anne-Marie Cleton-Jansen, Norman A. Doggett, Jan C. Pronk, Alex J. Tipping, Rachel A. Gibson, Christophe

Journal:

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

48

ThePISSLREGene: Structure, Exon Skipping, and Exclusion as Tumor Suppressor in Breast Cancer

Joanna Crawford, Leonarda Ianzano, Maria Savino, Scott Whitmore, Anne-Marie Cleton-Jansen, Chatri Settasatian, Maria d'Apolito, Ram Seshadri, Jan C. Pronk, Arleen D. Auerbach, Peter C. Verlander, Chri

Journal:

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

49

Fanconi anemia presenting unexpectedly in an adult kindred with no dysmorphic features

Johnson M. Liu, Arleen D. Auerbach, Neal S. Young

Journal:

The American Journal of Medicine

Year:

1991

Language:

english

File:

PDF, 349 KB

english, 1991

50

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

Thomas C. Markello, Hannah Carlson-Donohoe, Murat Sincan, David Adams, David M. Bodine, Jason E. Farrar, Adrianna Vlachos, Jeffrey M. Lipton, Arleen D. Auerbach, Elaine A. Ostrander, Settara C. Chandr

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.86 MB

english, 2012