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51

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay

Trilochan Sahoo, Aaron Theisen, Michael Marble, Raymond Tervo, Jill A. Rosenfeld, Beth S. Torchia, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.01 MB

english, 2011

52

Comments on editorial entitled “ISCN (2005) Is Not Acceptable for Describing Clonal Evolution in Cancer”

Lynda J Campbell, Marilyn L Slovak, Lisa G. Shaffer

Journal:

Genes, Chromosomes and Cancer

Year:

2007

Language:

english

File:

PDF, 59 KB

english, 2007

53

Evidence for involvement ofTRE-2(USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

Zhishuo Ou, Małgorzata Jarmuż, Steven P. Sparagana, Jacques Michaud, Jean-Claude Décarie, Svetlana A. Yatsenko, Beata Nowakowska, Patti Furman, Chad A. Shaw, Lisa G. Shaffer, James R. Lupski, A. Craig

Journal:

Year:

2006

Language:

english

File:

PDF, 624 KB

english, 2006

54

Fluorochrome-linked immunoassay for functional analysis of the mannose binding lectin complement pathway to the level of C3 cleavage

Mary C. Walsh, Lisa A. Shaffer, Benjamin J. Guikema, Simon C. Body, Stanton K. Shernan, Amanda A. Fox, Charles D. Collard, Michael Fung, Ronald P. Taylor, Gregory L. Stahl

Journal:

Journal of Immunological Methods

Year:

2007

Language:

english

File:

PDF, 609 KB

english, 2007

55

Parental Origin and Timing of De Novo Robertsonian Translocation Formation

Ruma Bandyopadhyay, Anita Heller, Cami Knox-DuBois, Christopher McCaskill, Sue Ann Berend, Scott L. Page, Lisa G. Shaffer

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 238 KB

english, 2002

56

Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

Twila M. Yobb, Martin J. Somerville, Lionel Willatt, Helen V. Firth, Karen Harrison, Jennifer MacKenzie, Natasha Gallo, Bernice E. Morrow, Lisa G. Shaffer, Melanie Babcock, Judy Chernos, Francois Bern

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 4.67 MB

english, 2005

57

At the Margin’s Edge: Women's Activism in Ecuador

Glidden, Lisa M., Shaffer-Cutillo, Melanie

Journal:

Women's Studies

Year:

2017

Language:

english

File:

PDF, 1.45 MB

english, 2017

58

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs

Shaffer, Lisa G.

Journal:

Year:

2019

Language:

english

File:

PDF, 563 KB

english, 2019

59

Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature

Shaffer, Lisa G., McCaskill, Christopher, Adkins, Kenneth, Hassold, Terry J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 78 KB

english, 1998

60

Williams syndrome in a preterm infant with phenotype of Alagille syndrome

Prakesh S. Shah, Prashanth Murthy, David Skidmore, Lisa G. Shaffer, Bassem A Bejjani, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 117 KB

english, 2008

61

Prenatal diagnosis and clinical findings in a case of hexasomy 12p

Ignatia B. van Den Veyver, Michelle E. Macha, Christopher McCaskill, Robert J. Carpenter Jr., Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 410 KB

english, 1993

62

Duplication of the STS region in males is a benign copy-number variant

Aubry Furrow, Aaron Theisen, Lea Velsher, Erawati V. Bawle, Sujatha Sastry, Nancy J. Mendelsohn, Kristi Jarvis, Lisa G. Shaffer, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.19 MB

english, 2011

63

Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism

Carrie Jones, Carol Booth, Debra Rita, Lydia Jazmines, Rhonda Spiro, Brian McCulloch, Christopher McCaskill, Lisa G. Shaffer

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 624 KB

english, 1995

64

Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith–Wiedemann syndrome

Jin-Yeong Han, Ji-Hyun Shin, Myong-Seok Han, Goo-Hwa Je, Lisa G. Shaffer

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 233 KB

english, 2006

65

Characterization of complex chromosome aberrations in a recurrent meningioma combining standard cytogenetic and array comparative genomic hybridization techniques

Kwang-Sook Woo, Kyung-Soo Sung, Ki-Uk Kim, Lisa G. Shaffer, Jin-Yeong Han

Journal:

Cancer Genetics and Cytogenetics

Year:

2008

Language:

english

File:

PDF, 233 KB

english, 2008

66

Automating Binding Procedures

Shaffer, Barbara, Aufdemberge, Karen, Macklin, Lisa, Parisi, Paul

Journal:

The Serials Librarian

Year:

1993

Language:

english

File:

PDF, 134 KB

english, 1993

67

Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations

Jarmuz-Szymczak, Malgorzata, Janiszewska, Joanna, Szyfter, Krzysztof, Shaffer, Lisa G.

Journal:

Chromosome Research

Year:

2014

Language:

english

File:

PDF, 3.70 MB

english, 2014

68

Administering vaccines

Shaffer, Cheryl, Aymong, Lisa

Journal:

Nursing (Ed. española)

Year:

2014

Language:

english

File:

PDF, 200 KB

english, 2014

69

Response to Benn

Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 286 KB

english, 2013

70

Persistently elevated abnormal B-cell subpopulations and anti-core antibodies in patients co-infected with HIV/HCV who relapse

Kohli, Anita, Funk, Emily, Burbelo, Peter, Barrett, Lisa, Meissner, Eric G., Santich, Brian, Shaffer, Ashton, Johl, Jessica, Sidharthan, Sreetha, Moir, Susan, Kottilil, Shyam, Fauci, Anthony S.

Journal:

Journal of Medical Virology

Year:

2015

Language:

english

File:

PDF, 431 KB

english, 2015

71

Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile using Historical Data

Mosley, Jonathan D., Van Driest, Sara L., Wells, Quinn S., Shaffer, Christian M., Edwards, Todd L., Bastarache, Lisa, McCarty, Catherine A., Thompson, William, Chute, Christopher G., Jarvik, Gail P.,

Journal:

Circulation Cardiovascular Genetics

Year:

2016

Language:

english

File:

PDF, 642 KB

english, 2016

72

A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization

Woo, Kwang-Sook, Kim, Ji-Eun, Kim, Kyung-Eun, Kim, Myo-Jing, Yoo, Jae-Ho, Ahn, Hyun-Sook, Shaffer, Lisa G., Han, Jin-Yeong

Journal:

The Korean Journal of Laboratory Medicine

Year:

2010

Language:

english

File:

PDF, 208 KB

english, 2010

73

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to theLIS1 and the D17S379 loci

Mutchinick, Osvaldo M., Shaffer, Lisa G., Kashork, Catherine D., Cervantes, Elia I.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 2.33 MB

english, 1999

74

Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a robertsonian translocation and isochromosome

Ruma Bandyopadhyay, Christopher McCaskill, Cami Knox-Du Bois, Yaolin Zhou, Sue Ann Berend, Emilia Bijlsma, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

75

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features

Arie Koifman, Annette Feigenbaum, Weimin Bi, Lisa G. Shaffer, Jill Rosenfeld, Susan Blaser, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 213 KB

english, 2010

76

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

Trilochan Sahoo, Aaron Theisen, Pedro A. Sanchez-Lara, Michael Marble, Daniela N. Schweitzer, Beth S. Torchia, Allen N. Lamb, Bassem A. Bejjani, Lisa G. Shaffer, Yves Lacassie

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.59 MB

english, 2011

77

A molecular genetic approach to the identification of isochromosomes of chromosome 21

Lisa G. Shaffer, Colleen K. Jackson-Cook, Joanne M. Meyer, Judith A. Brown, J. Edward Spence

Journal:

Year:

1991

Language:

english

File:

PDF, 882 KB

english, 1991

78

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski−/− mice

Colmenares, Clemencia, Heilstedt, Heidi A., Shaffer, Lisa G., Schwartz, Stuart, Berk, Michael, Murray, Jeffrey C., Stavnezer, Ed

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 1.27 MB

english, 2001

79

A Decision-Support System for Prioritizing Restoration Sites on the Mississippi River Alluvial Plain

Daniel W. Llewellyn, Gary P. Shaffer, Nancy Jo Craig, Lisa Creasman, David Pashley, Mark Swan, Cindy Brown

Journal:

Conservation Biology

Year:

1996

Language:

english

File:

PDF, 14.88 MB

english, 1996

80

Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes

Kathryn A. Kolquist, Roger A. Schultz, Aubry Furrow, Theresa C. Brown, Jin-Yeong Han, Lynda J. Campbell, Meaghan Wall, Marilyn L. Slovak, Lisa G. Shaffer, Blake C. Ballif

Journal:

Cancer Genetics

Year:

2011

Language:

english

File:

PDF, 1.85 MB

english, 2011

81

Severe lysosomal storage disease of liver in del(1)(p36): A new presentation

Motti Haimi, Theodore C. Iancu, Lisa G. Shaffer, Aaron Lerner

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.16 MB

english, 2011

82

Effects of Ozone Exposure during Microarray Posthybridization Washes and Scanning

Byerly, Steve, Sundin, Kyle, Raja, Rajiv, Stanchfield, Jim, Bejjani, Bassem A., Shaffer, Lisa G.

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 2.53 MB

english, 2009

83

Very low maternal serum chorionic gonadotropin levels in association with fetal triploidy

Schmidt, Deborah, Shaffer, Lisa G., McCaskill, Chris, Rose, Esmie, Greenberg, Frank

Journal:

American Journal of Obstetrics and Gynecology

Year:

1994

Language:

english

File:

PDF, 660 KB

english, 1994

84

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants

Karnes, Jason H., Bastarache, Lisa, Shaffer, Christian M., Gaudieri, Silvana, Xu, Yaomin, Glazer, Andrew M., Mosley, Jonathan D., Zhao, Shilin, Raychaudhuri, Soumya, Mallal, Simon, Ye, Zhan, Mayer, Jo

Journal:

Science Translational Medicine

Year:

2017

Language:

english

File:

PDF, 1.90 MB

english, 2017

85

A Rare Case of Acute Lymphoblastic Leukemia with t(12;17)(p13;q21)

Kim, Ji-Eun, Woo, Kwang-Sook, Kim, Kyung-Eun, Kim, Sung-Hyun, Park, Joo-In, Shaffer, Lisa G., Han, Jin-Yeong

Journal:

The Korean Journal of Laboratory Medicine

Year:

2010

Language:

english

File:

PDF, 847 KB

english, 2010

86

Deletion (9) (p13.1 p21.1)

Scaglia, Fernando, Bodamer, Olaf A.F., Berend, Sue Ann, Adam, Louise R., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 119 KB

english, 2000

87

Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies

Aimee S. Spikes, Katherine Hegmann, Janice L. Smith, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 440 KB

english, 1995

88

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

Lisa G. Shaffer, Jacqueline T. Hecht, David H. Ledbetter, Dr. Frank Greenberg

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 693 KB

english, 1993

89

From VACTERL-H to heterotaxy: Variable expressivity of ZIC3—related disorders

Brian Chung, Lisa G. Shaffer, Sarah Keating, Joan Johnson, Bret Casey, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 211 KB

english, 2011

90

Duplications of the long arm of both chromosome 1, dup(1)(q21q32), leading to tetrasomy 1q in myelodysplastic syndrome

Ji-Eun Kim, Kwang-Sook Woo, Kyung-Eun Kim, Sung-Hyun Kim, Joo-In Park, Lisa G. Shaffer, Jin-Yeong Han

Journal:

Leukemia Research

Year:

2010

Language:

english

File:

PDF, 280 KB

english, 2010

91

Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation

Lisa G. Shaffer

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 62 KB

english, 2006

92

Molecular Cloning, Expression Analysis, and Chromosome Mapping of WDR6, a Novel Human WD-Repeat Gene

Duanxiang Li, Paula Burch, Oscar Gonzalez, Catherine D. Kashork, Lisa G. Shaffer, Linda L. Bachinski, Robert Roberts

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 352 KB

english, 2000

93

The use of new technologies in the detection of balanced translocations in hematologic disorders

Lisa G Shaffer, Roger A Schultz, Blake C Ballif

Journal:

Current Opinion in Genetics & Development

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

94

Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

Yuan-Qing Wu, Jose L. Badano, Christopher McCaskill, Hannes Vogel, Lorraine Potocki, Lisa G. Shaffer

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 346 KB

english, 2000

95

Duplication of thePMP22gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Roa, Benjamin B., Greenberg, Frank, Gunaratne, Preethi, Sauer, Christine M., Lubinsky, Mark S., Kozma, Chahira, Meck, Jeanne M., Magenis, R. Ellen, Shaffer, Lisa G., Lupski, J. R.

Journal:

Year:

1996

Language:

english

File:

PDF, 394 KB

english, 1996

96

Molecular Convergence of Neurodevelopmental Disorders

Chen, Elizabeth S., Gigek, Carolina O., Rosenfeld, Jill A., Diallo, Alpha B., Maussion, Gilles, Chen, Gary G., Vaillancourt, Kathryn, Lopez, Juan P., Crapper, Liam, Poujol, Raphaël, Shaffer, Lisa G.,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 3.29 MB

english, 2014

97

Accelerated Wound Healing of Alkali-Burned Corneas in MRL Mice Is Associated with a Reduced Inflammatory Signature

Ueno, Motonobu, Lyons, Bonnie L., Burzenski, Lisa M., Gott, Bruce, Shaffer, Daniel J., Roopenian, Derry C., Shultz, Leonard D.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2005

Language:

english

File:

PDF, 654 KB

english, 2005

98

The common sense of counseling psychology: introducing the Common-Sense Model of self-regulation

McAndrew, Lisa M., Martin, Jessica L., Friedlander, Myrna L., Shaffer, Katharine, Breland, Jessica Y., Slotkin, Sarah, Leventhal, Howard

Journal:

Counselling Psychology Quarterly

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

99

[International Review of Research in Developmental Disabilities] Volume 40 || Innovations in the Early Diagnosis of Chromosomal Disorders Associated with Intellectual Disability

Shaffer, Lisa G.

Year:

2011

Language:

english

File:

PDF, 293 KB

english, 2011

100

Hereditary Neuropathy With Liability to Pressure Palsies Is Not a Major Cause of Idiopathic Carpal Tunnel Syndrome

Stockton, David W., Meade, Ricardo A., Netscher, David T., Epstein, Michael J., Shenaq, Saleh M., Shaffer, Lisa G., Lupski, James R.

Journal:

Archives of Neurology

Year:

2001

Language:

english

File:

PDF, 65 KB

english, 2001

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