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1

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants inASPMgene

Asma Gul, Muhammad Jawad Hassan, Saqib Mahmood, Wenje Chen, Safa Rahmani, Muhammad Imran Naseer, Lisa Dellefave, Noor Muhammad, Muhammad Arshad Rafiq, Muhammad Ansar, Muhammad Salman Chishti, Ghazanfa

Journal:

Year:

2006

Language:

english

File:

PDF, 177 KB

english, 2006

2

Gastrointestinal causes of refractory iron deficiency anemia in patients without gastrointestinal symptoms

Bruno Annibale, Gabriele Capurso, Antonio Chistolini, Giancarlo D’Ambra, Emilio DiGiulio, Bruno Monarca, Gianfranco DelleFave

Journal:

The American Journal of Medicine

Year:

2001

Language:

english

File:

PDF, 74 KB

english, 2001

3

Supercomputing for the parallelization of whole genome analysis

Puckelwartz, M. J., Pesce, L. L., Nelakuditi, V., Dellefave-Castillo, L., Golbus, J. R., Day, S. M., Cappola, T. P., Dorn, G. W., Foster, I. T., McNally, E. M.

Journal:

Year:

2014

Language:

english

File:

PDF, 329 KB

english, 2014

4

Creep of a glass-flake-reinforced epoxy adhesive for space applications

Andy H. Tsou, Debra L. DelleFave

Journal:

Year:

1996

Language:

english

File:

PDF, 597 KB

english, 1996

5

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis

Yi-Ju Li, Margaret A. Pericak-Vance, Jonathan L. Haines, Nailah Siddique, Diane McKenna-Yasek, Wu-Yen Hung, Peter Sapp, Coy I. Allen, Wenjie Chen, Betsy Hosler, Ann M. Saunders, Lisa M. Dellefave, Rob

Journal:

Year:

2004

Language:

english

File:

PDF, 167 KB

english, 2004

6

Zollinger-Ellison syndrome and antral G-cell hyperfunction in patients with resistant duodenal ulcer disease

B. ANNIBALE, L. DE MAGISTRIS, V. CORLETO, G. D'AMBRA, M. MARIGNANI, C. IANNONI, G. DELLEFAVE

Journal:

Alimentary Pharmacology & Therapeutics

Year:

1994

Language:

english

File:

PDF, 542 KB

english, 1994

7

Cardiomyopathy in neuromuscular disorders

Lisa M. Dellefave, Elizabeth M. McNally

Journal:

Progress in Pediatric Cardiology

Year:

2007

Language:

english

File:

PDF, 217 KB

english, 2007

8

Sarcomere Mutations in Cardiogenesis and Ventricular Noncompaction

Elizabeth McNally, Lisa Dellefave

Journal:

Trends in Cardiovascular Medicine

Year:

2009

Language:

english

File:

PDF, 273 KB

english, 2009

9

Population-Based Variation in Cardiomyopathy Genes

Golbus, J. R., Puckelwartz, M. J., Fahrenbach, J. P., Dellefave-Castillo, L. M., Wolfgeher, D., McNally, E. M.

Journal:

Circulation Cardiovascular Genetics

Year:

2012

Language:

english

File:

PDF, 521 KB

english, 2012

10

Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM

Neal K. Lakdawala, Lisa Dellefave, Elizabeth Sparks, Allison Cirino, Steve Depalma, Birgit Funke, Steven D. Colan, Hugh Watkins, Paul Robinson, Charles S. Redwood, Christine E. Seidman, J.G. Seidman,

Journal:

Journal of Cardiac Failure

Year:

2009

Language:

english

File:

PDF, 74 KB

english, 2009

11

A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward)

John J. Ryan, Matthew Kalscheur, Lisa Dellefave, Elizabeth McNally, Stephen L. Archer

Journal:

International Journal of Cardiology

Year:

2012

Language:

english

File:

PDF, 749 KB

english, 2012

12

Suicidal ideation in Huntington disease: The role of comorbidity

Heather H. Wetzel, Carissa R. Gehl, Lisa Dellefave–Castillo, Judith F. Schiffman, Kathleen M. Shannon, Jane S. Paulsen

Journal:

Psychiatry Research

Year:

2011

Language:

english

File:

PDF, 175 KB

english, 2011

13

RN First Assistants: A Survey to Determine the Need

Louie DelleFave, Carolyn A. Ragland

Journal:

Year:

1988

Language:

english

File:

PDF, 288 KB

english, 1988

14

Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric Dilated Cardiomyopathy

Neal K. Lakdawala, Lisa Dellefave, Charles S. Redwood, Elizabeth Sparks, Allison L. Cirino, Steve Depalma, Steven D. Colan, Birgit Funke, Rebekah S. Zimmerman, Paul Robinson, Hugh Watkins, Christine E

Journal:

Journal of the American College of Cardiology

Year:

2010

Language:

english

File:

PDF, 841 KB

english, 2010

15

S100A12 Expression in Thoracic Aortic Aneurysm Is Associated With Increased Risk of Dissection and Perioperative Complications

Deepanjana Das, Joseph Gawdzik, Lisa Dellefave-Castillo, Elizabeth M. McNally, Aliya Husain, Jai Raman, Marion A. Hofmann Bowman

Journal:

Journal of the American College of Cardiology

Year:

2012

Language:

english

File:

PDF, 3.47 MB

english, 2012

16

Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue

Rubinstein, Wendy S, Jiang, Hongmei, Dellefave, Lisa, Rademaker, Alfred W

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 706 KB

english, 2009

17

NEUROTENSIN AND THE DUMPING SYNDROME

Journal:

Year:

1981

Language:

english

File:

PDF, 148 KB

english, 1981

18

Glucagon-like immunoreactivity (GLI) induced by bombesin (BBS) in man

DelleFave, G, Tamburrano, G, de Magistris, L, Mauceri, M, Kohn, A, BouFayad, J

Journal:

Regulatory Peptides

Year:

1980

Language:

english

File:

PDF, 68 KB

english, 1980

19

Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy

Golbus, J. R., Puckelwartz, M. J., Dellefave-Castillo, L., Fahrenbach, J. P., Nelakuditi, V., Pesce, L. L., Pytel, P., McNally, E. M.

Journal:

Circulation Cardiovascular Genetics

Year:

2014

Language:

english

File:

PDF, 2.94 MB

english, 2014

20

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

Rezania, Kourosh, Yan, Jianhua, Dellefave, Lisa, Deng, Han‐Xiang, Siddique, Nailah, T Pascuzzi, Robert, Siddique, Teepu, P Roos, Raymond

Journal:

Amyotrophic Lateral Sclerosis

Year:

2003

Language:

english

File:

PDF, 373 KB

english, 2003

21

Response to Letter Regarding Article, "Population-Based Variation in Cardiomyopathy Genes"

Golbus, J. R., Puckelwartz, M. J., Fahrenbach, J. P., Dellefave-Castillo, L. M., Wolfgeher, D., McNally, E. M.

Journal:

Circulation Cardiovascular Genetics

Year:

2012

Language:

english

File:

PDF, 438 KB

english, 2012

22

Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation

Dellefave, L. M., Pytel, P., Mewborn, S., Mora, B., Guris, D. L., Fedson, S., Waggoner, D., Moskowitz, I., McNally, E. M.

Journal:

Circulation Cardiovascular Genetics

Year:

2009

Language:

english

File:

PDF, 1.27 MB

english, 2009

23

Sarcomere Mutations in Cardiomyopathy, Noncompaction, and the Developing Heart

Dellefave, L., McNally, E. M.

Journal:

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

24

The genetics of dilated cardiomyopathy

Dellefave, Lisa, McNally, Elizabeth M

Journal:

Current Opinion in Cardiology

Year:

2010

Language:

english

File:

PDF, 331 KB

english, 2010

25

Lack of association of VEGF promoter polymorphisms with sporadic ALS

Chen, W., Saeed, M., Mao, H., Siddique, N., Dellefave, L., Hung, W. -Y., Deng, H. -X., Sufit, R. L., Heller, S. L., Haines, J. L., Pericak-Vance, M., Siddique, T.

Journal:

Year:

2006

Language:

english

File:

PDF, 164 KB

english, 2006

26

Age and founder effect of SOD1 A4V mutation causing ALS

Saeed, M., Yang, Y., Deng, H-X, Hung, W-Y, Siddique, N., Dellefave, L., Gellera, C., Andersen, P. M., Siddique, T.

Journal:

Year:

2009

Language:

english

File:

PDF, 430 KB

english, 2009

27

Neuronal Ubiquitinated Intranuclear Inclusions in Familial and Non-Familial Frontotemporal Dementia of the Motor Neuron Disease Type Associated with Amyotrophic Lateral Sclerosis

Bigio, Eileen H., Johnson, Nancy A., Rademaker, Alfred W., Fung, Bing B., Mesulam, M-Marsel, Siddique, Nailah, Dellefave, Lisa, Caliendo, Janice, Freeman, Stefanie, Siddique, Teepu

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2004

Language:

english

File:

PDF, 266 KB

english, 2004

28

Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease

Kim, Ellis Y., Page, Patrick, Dellefave-Castillo, Lisa M., McNally, Elizabeth M., Wyatt, Eugene J.

Journal:

Skeletal Muscle

Year:

2015

Language:

english

File:

PDF, 4.72 MB

english, 2015

29

Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy

Barefield, David Y., Puckelwartz, Megan J., Kim, Ellis Y., Wilsbacher, Lisa D., Vo, Andy H., Waters, Emily A., Earley, Judy U., Hadhazy, Michele, Dellefave-Castillo, Lisa M., Pesce, Lorenzo L., McNall

Journal:

Year:

2017

Language:

english

File:

PDF, 4.43 MB

english, 2017

30

Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing

Dellefave-Castillo, Lisa M., Puckelwartz, Megan J., McNally, Elizabeth M.

Journal:

JAMA Cardiology

Year:

2018

Language:

english

File:

PDF, 175 KB

english, 2018

31

Altered Chromosomal Positioning, Compaction, and Gene Expression with a Lamin A/C Gene Mutation

Mewborn, Stephanie K., Puckelwartz, Megan J., Abuisneineh, Fida, Fahrenbach, John P., Zhang, Yuan, MacLeod, Heather, Dellefave, Lisa, Pytel, Peter, Selig, Sara, Labno, Christine M., Reddy, Karen, Sing

Journal:

Year:

2010

Language:

english

File:

PDF, 3.91 MB

english, 2010

32

Genetic Counselors’ Approach To Postmortem Genetic Testing After Sudden Death

Liu, Gina, MacLeod, Heather, Webster, Gregory, McNally, Elizabeth M., O’Neill, Suzanne M., Dellefave-Castillo, Lisa

Journal:

Academic Forensic Pathology

Year:

2018

Language:

english

File:

PDF, 1.66 MB

english, 2018

33

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

Smith, Eric D., Lakdawala, Neal K., Papoutsidakis, Nikolaos, Aubert, Gregory, Mazzanti, Andrea, McCanta, Anthony C., Agarwal, Prachi P., Arscott, Patricia, Dellefave-Castillo, Lisa M., Vorovich, Esthe

Journal:

Year:

2020

File:

PDF, 8.16 MB

2020

34

Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart

Gacita, Anthony M., Dellefave-Castillo, Lisa, Page, Patrick G.T., Barefield, David Y., Wasserstrom, J. Andrew, Puckelwartz, Megan J., Nobrega, Marcelo A., McNally, Elizabeth M.

Journal:

Circulation Heart Failure

Year:

2020

File:

PDF, 3.61 MB

2020

35

Outbreak of Bloodstream Infections in Hemodialysis Patients Highlight the Importance of a Working Partnership Between Infection Prevention and Interventional Departments

Dellefave, Amber, Salkic, Ljubica, Farnsworth, Donna

Journal:

American Journal of Infection Control

Year:

2020

File:

PDF, 42 KB

2020