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1

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice

Neal K. Lakdawala, Birgit H. Funke, Samantha Baxter, Allison L. Cirino, Amy E. Roberts, Daniel P. Judge, Nicole Johnson, Nancy J. Mendelsohn, Chantal Morel, Melanie Care, Wendy K. Chung, Carolyn Jones

Journal:

Journal of Cardiac Failure

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

2

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

Priya S. Kishnani, Alexandra A. Beckemeyer, Nancy J. Mendelsohn

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 276 KB

english, 2012

3

FTIR microscopic imaging of collagen and proteoglycan in bovine cartilage

Nancy P. Camacho, Paul West, Peter A. Torzilli, Richard Mendelsohn

Journal:

Year:

2001

Language:

english

File:

PDF, 277 KB

english, 2001

4

The Language Phenotype of Children and Adolescents With Noonan Syndrome

Pierpont, Elizabeth I., Ellis Weismer, Susan, Roberts, Amy E., Tworog-Dube, Erica, Pierpont, Mary Ella, Mendelsohn, Nancy J., Seidenberg, Mark S.

Journal:

Journal of Speech Language and Hearing Research

Year:

2010

Language:

english

File:

PDF, 1.85 MB

english, 2010

5

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

Schaefer, G Bradley, Mendelsohn, Nancy J

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 88 KB

english, 2008

6

SPIE Proceedings [SPIE BiOS 2000 The International Symposium on Biomedical Optics - San Jose, CA (Saturday 22 January 2000)] Spectral Imaging: Instrumentation, Applications, and Analysis - Mechanisms for the conversion of hyperspectral images to chemical images

Brown, Christopher W., Bu, Dongsheng, Camacho, Nancy P., Mendelsohn, Richard, Bearman, Gregory H., Cabib, Dario, Levenson, Richard M.

Year:

2000

Language:

english

File:

PDF, 1.21 MB

english, 2000

7

Barriers and facilitators to conduct high‐quality, large‐scale safety and comparative effectiveness research: The Biologics and Biosimilars Collective Intelligence Consortium experience

Lockhart, Catherine M., McDermott, Cara L., Felix, Thomas, Lin, Nancy D., Cziraky, Mark J., Mendelsohn, Aaron B., Brown, Jeffrey S.

Journal:

Pharmacoepidemiology and Drug Safety

Year:

2019

Language:

english

File:

PDF, 121 KB

english, 2019

8

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

Messinger, Yoav H., Mendelsohn, Nancy J., Rhead, William, Dimmock, David, Hershkovitz, Eli, Champion, Michael, Jones, Simon A., Olson, Rebecca, White, Amy, Wells, Cara, Bali, Deeksha, Case, Laura E.,

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 628 KB

english, 2012

9

Expression and Characterization of Human Mutant (Glutamic Acid304) Medium-Chain Acyl-Coenzyme A Dehydrogenase in Mammalian Cells

Whelan, Alison J, Strauss, Arnold W, Male, Daniel E, Mendelsohn, Nancy J, Kelly, Daniel P

Journal:

Pediatric Research

Year:

1993

Language:

english

File:

PDF, 438 KB

english, 1993

10

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

Mendelsohn, Nancy J., Harmatz, Paul, Bodamer, Olaf, Burton, Barbara K., Giugliani, Roberto, Jones, Simon A., Lampe, Christina, Malm, Gunilla, Steiner, Robert D., Parini, Rossella

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 445 KB

english, 2010

11

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog-Dube, Katherine A. Rauen, Mark S. Seidenberg

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 234 KB

english, 2010

12

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

13

Exocrine pancreatic insufficiency and muscular dystrophy in a father and daughter - a new syndrome

Khalid Khan, Steven Smith, Nancy Mendelsohn

Journal:

American Journal of Gastroenterology

Year:

2002

Language:

english

File:

PDF, 33 KB

english, 2002

14

Patient and surgeon radiation exposure during spinal instrumentation using intraoperative CT-based navigation

Mendelsohn, Daniel, Strelzow, Jason, Dea, Nicolas, Ford, Nancy, Batke, Juliet, Dvorak, Marcel, Fisher, Charles, Street, John

Journal:

The Spine Journal

Year:

2015

Language:

english

File:

PDF, 951 KB

english, 2015

15

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Parini, Rossella, Jones, Simon, Harmatz, Paul, Giugliani, Roberto, Fang, Juanzhi, Mendelsohn, Nancy

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

16

Surveillance for cancer recurrence in long-term young breast cancer survivors randomly selected from a statewide cancer registry

Jones, Tarsha, Duquette, Debra, Underhill, Meghan, Ming, Chang, Mendelsohn-Victor, Kari E., Anderson, Beth, Milliron, Kara J., Copeland, Glenn, Janz, Nancy K., Northouse, Laurel L., Duffy, Sonia M., M

Journal:

Breast Cancer Research and Treatment

Year:

2018

Language:

english

File:

PDF, 994 KB

english, 2018

17

The Mild Side of MPS Disorders: Are These Cases Being Missed by Urine Screening and Other Common Diagnostic Methods?

Klane White, Nancy Mendelsohn, Susan Hale, Olson Rebecca, Ward Tim

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

18

Ear, nose and throat and hernia surgeries in children with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Morin, Isabelle, Mendelsohn, Nancy, Burton, Barbara, Jones, Simon A., Lampe, Christina, Molter, David

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 385 KB

english, 2015

19

Response to letter by Chodirker and Chudley

Schaefer, G Bradley, Mendelsohn, Nancy J

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

20

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Parini, Rossella, Jones, Simon A., Harmatz, Paul R., Giugliani, Roberto, Mendelsohn, Nancy J.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.02 MB

english, 2016

21

POGZ truncating alleles cause syndromic intellectual disability

White, Janson, Beck, Christine R., Harel, Tamar, Posey, Jennifer E., Jhangiani, Shalini N., Tang, Sha, Farwell, Kelly D., Powis, Zöe, Mendelsohn, Nancy J., Baker, Janice A., Pollack, Lynda, Mason, Kat

Journal:

Genome Medicine

Year:

2016

Language:

english

File:

PDF, 3.33 MB

english, 2016

22

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2- encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome

Ackerman, Jaeger P., Smestad, John A., Tester, David J., Qureshi, Muhammad Y., Crabb, Beau A., Mendelsohn, Nancy J., Ackerman, Michael J.

Journal:

Congenital Heart Disease

Year:

2016

Language:

english

File:

PDF, 693 KB

english, 2016

23

Intrafamilial variability in the clinical presentation of mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy, Jego, Virginie, Parini, Rossella

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

24

Chondrodysplasia punctata associated with malabsorption from bariatric procedures

Kang, Lisa, Marty, Denise, Pauli, Richard M., Mendelsohn, Nancy J., Prachand, Vivek, Waggoner, Darrel

Journal:

Surgery for Obesity and Related Diseases

Year:

2010

Language:

english

File:

PDF, 197 KB

english, 2010

25

Monosomy 9p24→pter and trisomy 5q31→qter: Case report and review of two cases

Lisa A. Schimmenti, Rodney R. Higgins, Nancy J. Mendelsohn, Timothy M. Casey, Julia Steinberger, Mark C. Mammel, Georgia L. Wiesner

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 442 KB

english, 1995

26

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Lachman, Ralph S., Burton, Barbara K., Clarke, Lorne A., Hoffinger, Scott, Ikegawa, Shiro, Jin, Dong-Kyu, Kano, Hiroki, Kim, Ok-Hwa, Lampe, Christina, Mendelsohn, Nancy J., Shediac, Renée, Tanpaiboon,

Journal:

Skeletal Radiology

Year:

2014

Language:

english

File:

PDF, 572 KB

english, 2014

27

Age at symptom onset, diagnosis, and enzyme replacement therapy (ERT) initiation among family members with mucopolysaccharidosis II (Hunter Syndrome): Data from the Hunter Outcome Survey (HOS)

Ficicioglu, Can, Mendelsohn, Nancy J., Giugliani, Roberto, Lampe, Christina, Fang, Juanzhi

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 102 KB

english, 2013

28

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

Aldinger, Kimberly A, Mendelsohn, Nancy J, Chung, Brian HY, Zhang, Wenjuan, Cohn, Daniel H, Fernandez, Bridget, Alkuraya, Fowzan S, Dobyns, William B, Curry, Cynthia J

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.62 MB

english, 2016

29

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

Pond, Dinel, Arts, Florence A, Mendelsohn, Nancy J, Demoulin, Jean-Baptiste, Scharer, Gunter, Messinger, Yoav

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 452 KB

english, 2017

30

EGF receptor and p185erbB-2-specific single-chain antibody toxins differ in their cell-killing activity on tumor cells expressing both receptor proteins

Winfried Wels, Roger Beerli, Peter Hellmann, Mathias Schmidt, Barbara M. Marte, Elena S. Kornilova, Armin Hekele, John Mendelsohn, Bernd Groner, Nancy E. Hynes

Journal:

International Journal of Cancer

Year:

1995

Language:

english

File:

PDF, 1.08 MB

english, 1995

31

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, T

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 749 KB

english, 2013

32

FT-IR microscopic mappings of early mineralization in chick limb bud mesenchymal cell cultures

Adele L. Boskey, Nancy Pleshko Camacho, Richard Mendelsohn, Stephen B. Doty, Itzhak Binderman

Journal:

Calcified Tissue International

Year:

1992

Language:

english

File:

PDF, 1.10 MB

english, 1992

33

Detection and assessment by positron emission tomography of a genetically determined defect in myocardial fatty acid utilization (long-chain acyl-coa dehydrogenase deficiency)

Daniel P. Kelly, Nancy J. Mendelsohn, Burton E. Sobel, Steven R. Bergmann

Journal:

The American Journal of Cardiology

Year:

1993

Language:

english

File:

PDF, 1.82 MB

english, 1993

34

Regulation of the human long chain acyl-CoA dehydrogenase gene by nuclear hormone receptor transcription factors

Zhifang Zhang, Yeqing Zhou, Nancy J Mendelsohn, Gregory S Bauer, Arnold W Strauss

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1997

Language:

english

File:

PDF, 396 KB

english, 1997

35

94. Clinical phenotype of North American patients with Hunter syndrome: Data from HOS: The Hunter Outcome Survey

Joseph Muenzer, Kirk Aleck, Barbara Burton, Sara Copeland, Lorne Clarke, Christine Eng, Paul Fernoff, Paul Harmatz, Serge Melancon, Nancy Mendelsohn, Robert Steiner, Cynthia Tifft

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

36

Cervical spine pathology in Hunter syndrome: Data from the Hunter Outcome Survey

Harmatz, Paul, Lampe, Christina, Burton, Barbara, Mendelsohn, Nancy, Fang, Juanzhi

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 129 KB

english, 2013

37

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Schaefer, G. Bradley, Mendelsohn, Nancy J.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 367 KB

english, 2013

38

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Jones, Simon A., Parini, Rossella, Harmatz, Paul, Giugliani, Roberto, Fang, Juanzhi, Mendelsohn, Nancy J.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 388 KB

english, 2013

39

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

Lampe, Christina, Bosserhoff, Ann-Kathrin, Burton, Barbara K., Giugliani, Roberto, de Souza, Carolina F., Bittar, Camila, Muschol, Nicole, Olson, Rebecca, Mendelsohn, Nancy J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 206 KB

english, 2014

40

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

Schaefer, G Bradley, Mendelsohn, Nancy J

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 276 KB

english, 2008

41

Disparities in genetic services utilization in a random sample of young breast cancer survivors

Nikolaidis, Christos, Duquette, Debra, Mendelsohn-Victor, Kari E., Anderson, Beth, Copeland, Glenn, Milliron, Kara J., Merajver, Sofia D., Janz, Nancy K., Northouse, Laurel L., Duffy, Sonia A., Katapo

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 302 KB

english, 2018

42

Response to the letter “How to describe the clinical spectrum in Pompe disease?”

Beckemeyer, Alexandra A., Mendelsohn, Nancy J., Kishnani, Priya S.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

43

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

Mendelsohn, Nancy J., Messinger, Yoav H., Rosenberg, Amy S., Kishnani, Priya S.

Journal:

Boston Medical and Surgical Journal

Year:

2009

Language:

english

File:

PDF, 157 KB

english, 2009

44

Validity of Hospital Discharge Data for Identifying Infants with Cardiac Defects

Frohnert, Barbara Kathleen, Lussky, Richard Charles, Alms, Maureen Anne, Mendelsohn, Nancy J, Symonik, Daniel Michael, Falken, Myron Clifford

Journal:

Journal of Perinatology

Year:

2005

Language:

english

File:

PDF, 73 KB

english, 2005

45

Amelioration of Short Stature in Patients with Hunter Syndrome Receiving Idursulfase: Data from the Hunter Outcome Survey (HOS)

Simon Jones, Rossella Parini, Paul Harmatz, Roberto Giugliani, Nancy J. Mendelsohn

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

46

74. Immunological aspects of treatment of Pompe disease

Priya Kishnani, Suhrad Banugaria, Stephanie DeArmey, Joanne Mackey, Sarah Young, Deeksha Bali, Dwight Koeberl, Amy Rosenberg, Yoav Messinger, Nancy Mendelsohn, William Rhead, Y.T. Chen

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

47

A novel microdeletion/microduplication syndrome of 19p13.13

Dolan, Michelle, Mendelsohn, Nancy J, Pierpont, Mary Ella, Schimmenti, Lisa A, Berry, Susan A, Hirsch, Betsy

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 3.27 MB

english, 2010

48

Genetic Testing and Surveillance of Young Breast Cancer Survivors and Blood Relatives: A Cluster Randomized Trial

Katapodi, Maria C., Ming, Chang, Northouse, Laurel L., Duffy, Sonia A., Duquette, Debra, Mendelsohn-Victor, Kari E., Milliron, Kara J., Merajver, Sofia D., Dinov, Ivo D., Janz, Nancy K.

Journal:

Year:

2020

File:

PDF, 446 KB

2020

49

Corpus Callosum Damage and InterhemispherIc Transfer of Information following Closed Head Injury in Children

Debra A. Benavidez, Jack M. Fletcher, H. Julia Hannay, Sondra T. Bland, Susan E. Caudle, Dianne B. Mendelsohn, Joel Yeakley, Donald G. Brunder, Harriet Harward, James Song, Nancy A. Perachio, Derek Br

Journal:

Year:

1999

Language:

english

File:

PDF, 97 KB

english, 1999

50

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, Christian J., Muenzer, Joseph, Vanderver, Adeline, Davis, Jonathan M., Burton, Barbara K., Mendelsohn, Nancy J., Wang, Nan, Pan, Luying, Pano, Arian, Cammarata, Sue, Barbier, Ann J.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

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