Darrel J. Waggoner: search on Z-Library

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1

Professional Medical Education and Genomics

Demmer, Laurie A., Waggoner, Darrel J.

Journal:

Annual Review of Genomics and Human Genetics

Year:

2014

Language:

english

File:

PDF, 156 KB

english, 2014

2

A Review of Fanconi Anemia for the Practicing Pediatrician

Triemstra, Justin, Pham, An, Rhodes, Lindsay, Waggoner, Darrel J., Onel, Kenan

Journal:

Pediatric Annals

Year:

2015

Language:

english

File:

PDF, 676 KB

english, 2015

3

The Natural History of Phytosterolemia: Observations on its Homeostasis

Mymin, David, Salen, Gerald, Triggs-Raine, Barbara, Waggoner, Darrell J., Dembinski, Thomas, Hatch, Grant M.

Journal:

Atherosclerosis Supplements

Year:

2018

Language:

english

File:

PDF, 271 KB

english, 2018

4

Unique cardiac and cerebral anomalies with chondrodysplasia punctata

Ciske, David J., Waggoner, Darrel J., Dowton, S. Bruce

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 156 KB

english, 1998

5

Deletion of 1q in a patient with acrofacial dysostosis

Waggoner, Darrel J., Ciske, David J., Dowton, S. Bruce, Watson, Michael S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 288 KB

english, 1999

6

Partial monosomy of distal 10q: Three new cases and a review

Waggoner, Darrel J., Chow, Clara K., Dowton, S. Bruce, Watson, Michael S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 211 KB

english, 1999

7

Clinic-based study of plexiform neurofibromas in neurofibromatosis 1

Waggoner, Darrel J., Towbin, Jennifer, Gottesman, Gary, Gutmann, David H.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 75 KB

english, 2000

8

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

Melissa A. Dempsey, Stuart Schwartz, Darrel J. Waggoner

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 172 KB

english, 2007

9

Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

Małgorzata J.M. Nowaczyk, Melissa T. Carter, Jie Xu, Marlene Huggins, Gordana Raca, Soma Das, Christa Lese Martin, Stuart Schwartz, Robert Rosenfield, Darrel J. Waggoner

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 150 KB

english, 2008

10

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

Jinglan Liu, Rachel Feldman, Zhe Zhang, Matthew A. Deardorff, Eden V. Haverfield, Maninder Kaur, Jennifer R. Li, Dinah Clark, Antonie D. Kline, Darrel J. Waggoner, Soma Das, Laird G. Jackson, Ian D. K

Journal:

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

11

Vertebral anomalies in a new family with ODED syndrome

Linda D Piersall, S Bruce Dowton, William H McAlister, Darrel J Waggoner

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 163 KB

english, 2000

12

Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase

Thomas B. Bartnikas, Darrel J. Waggoner, Ruby Leah B. Casareno, Roger Gaedigk, Robert A. White, Jonathan D. Gitlin

Journal:

Mammalian Genome

Year:

2000

Language:

english

File:

PDF, 392 KB

english, 2000

13

Microphthalmia with Linear Skin Defects: A Case Report and Review

Vishakha M. Sharma, Arlene M. Ruiz de Luzuriaga, Darrel Waggoner, Mark Greenwald, Sarah L. Stein

Journal:

Pediatric Dermatology

Year:

2008

Language:

english

File:

PDF, 180 KB

english, 2008

14

Expanding newborn screening for lysosomal disorders: Opportunities and challenges

Darrel J. Waggoner, Christopher A. Tan

Journal:

Development Diabilities Research Reviews

Year:

2011

Language:

english

File:

PDF, 753 KB

english, 2011

15

Mechanisms of Disease: Epigenesis

Darrel Waggoner

Journal:

Seminars in Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 493 KB

english, 2007

16

Selective convective brain cooling during normothermic cardiopulmonary bypass in dogs

C.Thomas Wass, Julian Waggoner III, David G. Cable, Hartzell V. Schaff, Darrell R. Schroeder, William L. Lanier

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

1998

Language:

english

File:

PDF, 184 KB

english, 1998

17

The Role of Copper in Neurodegenerative Disease

Darrel J. Waggoner, Thomas B. Bartnikas, Jonathan D. Gitlin

Journal:

Neurobiology of Disease

Year:

1999

Language:

english

File:

PDF, 172 KB

english, 1999

18

Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype

Shalini C. Reshmi, Jennifer L. Miller, Dianne Deplewski, Clare Close, Leslie J. Henderson, Elizabeth Littlejohn, Stuart Schwartz, Darrel J. Waggoner

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 232 KB

english, 2011

19

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex

Heather MacLeod, Peter Pytel, Robert Wollmann, Ewa Chelmicka-Schorr, Kenneth Silver, Rebecca Brown Anderson, Darrel Waggoner, Elizabeth M. McNally

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 1013 KB

english, 2007

20

A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois

Barbara Burton, Joel Charrow, Brad Angle, Shanna Widera, Darrel Waggoner

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

21

Selective convective brain cooling during hypothermic cardiopulmonary bypass in dogs

C.Thomas Wass, Julian R Waggoner III, David G Cable, Hartzell V Schaff, Darrell R Schroeder, William L Lanier

Journal:

The Annals of Thoracic Surgery

Year:

1998

Language:

english

File:

PDF, 266 KB

english, 1998

22

Motor neuron disease - SOD1 transgenic models

Philip C.Y. Wong, Darrel Waggoner, Jamuna R. Subramanian, Lino Tessarollo, Thomas B. Bartnikas, Valeria C. Culotta, Donald L. Price, Jeffery Rothstein

Journal:

Neurobiology of Aging

Year:

2000

Language:

english

File:

PDF, 184 KB

english, 2000

23

Ophthalmoplegia in maple syrup urine disease

Balaji Gupta, Darrel Waggoner

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2003

Language:

english

File:

PDF, 62 KB

english, 2003

24

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Katrina Tatton-Brown, Jenny Douglas, Kim Coleman, Geneviève Baujat, Trevor R.P. Cole, Soma Das, Denise Horn, Helen E. Hughes, I. Karen Temple, Francesca Faravelli, Darrel Waggoner, Seval Türkmen, Valé

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.87 MB

english, 2005

25

Parents: Critical Stakeholders in Expanding Newborn Screening

Lainie Friedman Ross, Darrel J. Waggoner

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 107 KB

english, 2012

26

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

Jessica X. Chong, Rebecca Ouwenga, Rebecca L. Anderson, Darrel J. Waggoner, Carole Ober

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 274 KB

english, 2012

27

The Effect of Changing Transfusion Practice on Rates of Perioperative Stroke and Myocardial Infarction in Patients Undergoing Carotid Endarterectomy: A Retrospective Analysis of 1114 Mayo Clinic Patients

Waggoner, Julian R., Wass, C. Thomas, Polis, Tomasz Z., Faust, Ronald J., Schroeder, Darrell R., Offord, Kenneth P., Piepgras, David G., Joyner, Michael J.

Journal:

Mayo Clinic Proceedings

Year:

2001

Language:

english

File:

PDF, 165 KB

english, 2001

28

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

29

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

Cheng, Yu-Wei, Tan, Christopher A., Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K., Kozel, Beth A., Robin, Nathaniel H., Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, Gaudio, Da

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 909 KB

english, 2014

30

Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence

Bhoj, Elizabeth, Halbach, Sara, McDonald-McGinn, Donna, Tan, Christopher, Lande, Rachel, Waggoner, Darrel, Zackai, Elaine

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.59 MB

english, 2013

31

NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory

Waggoner, Darrel J, Raca, Gordana, Welch, Katherine, Dempsey, Melissa, Anderes, Ethan, Ostrovnaya, Irina, Alkhateeb, Asem, Kamimura, Junichi, Matsumoto, Naomichi, Schaeffer, G Bradley, Martin, Christa

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 567 KB

english, 2005

32

4q21 microdeletion in a patient with epilepsy and brain malformations

Yano, Sho, McNamara, Meredithe, Halbach, Sara, Waggoner, Darrel

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 578 KB

english, 2015

33

Developmental Regulation of Expression of C-Reactive Protein and Serum Amyloid A in Syrian Hamsters

Dowton, S Bruce, Waggoner, Darrel J, Mandl, Kenneth D

Journal:

Pediatric Research

Year:

1991

Language:

english

File:

PDF, 812 KB

english, 1991

34

Newborn screening for lysosomal disorders in Illinois

Burton, Barbara K., Hoganson, George E., Charrow, Joel, Tinkle, Brad, Dimmock, David, Waggoner, Darrel, Grange, Dorothy, Nash, Claudia, Becker, Jean, Shao, Rong, Basheeruddin, Khaja, Dizikes, George

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 73 KB

english, 2016

35

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2

Lyon, Sarah M., Waggoner, Darrel, Halbach, Sara, Thorland, Erik C., Khorasani, Leila, Reid, Russell R.

Journal:

Genes & Diseases

Year:

2015

Language:

english

File:

PDF, 1.36 MB

english, 2015

36

The Effect of Changing Transfusion Practice on Rates of Perioperative Stroke and Myocardial Infarction in Patients Undergoing Carotid Endarterectomy: A Retrospective Analysis of 1114 Mayo Clinic Patients

Waggoner, Julian R., Wass, C. Thomas, Polis, Tomasz Z., Faust, Ronald J., Schroeder, Darrell R., Offord, Kenneth P., Piepgras, David G., Joyner, Michael J.

Journal:

Mayo Clinic Proceedings

Year:

2001

Language:

english

File:

PDF, 165 KB

english, 2001

37

A recurrentde novoCTBP1mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

Beck, David B., Cho, Megan T., Millan, Francisca, Yates, Carin, Hannibal, Mark, O’Connor, Bridget, Shinawi, Marwan, Connolly, Anne M., Waggoner, Darrel, Halbach, Sara, Angle, Brad, Sanders, Victoria,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.70 MB

english, 2016

38

Familial Pyloric Stenosis Associated with Developmental Delays

Elinoff, Jason M, Liu, Donald, Guandalini, Stefano, Waggoner, Darrel J

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2005

Language:

english

File:

PDF, 167 KB

english, 2005

39

BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE

Metelitsina, Tatyana I., Waggoner, Darrel J., Grassi, Michael A.

Journal:

Retinal Cases & Brief Reports

Year:

2016

Language:

english

File:

PDF, 144 KB

english, 2016

40

Hypernatremia After Cleft Lip Repair in a Patient with Holoprosencephaly

Tung, Avery, Anderson, Jennifer, Daves, Suanne, Waggoner, Darrel, Kahana, Madelyn

Journal:

Anesthesia & Analgesia

Year:

2006

Language:

english

File:

PDF, 957 KB

english, 2006

41

RUNX2 Quadruplication

Greives, Matthew R., Odessey, Eric A., Waggoner, Darrel J., Shenaq, Deana S., Aradhya, Swaroop, Mitchell, Allison, Whitcomb, Emma, Warshawsky, Neil, He, Tong-Chuan, Reid, Russell R.

Journal:

Journal of Craniofacial Surgery

Year:

2013

Language:

english

File:

PDF, 943 KB

english, 2013

42

A 13-Year Old Female with Intractable Seizures

Can, Nhu Thuy, Nolan, Amber, Waggoner, Darrel, Silver, Kenneth, Pytel, Peter

Journal:

Brain Pathology

Year:

2015

Language:

english

File:

PDF, 423 KB

english, 2015

43

CHANGING TRANSFUSION PRACTICES IN CAROTID ENDARTERECTOMY DURING THE PAST TWO DECADES: AN ANALYSIS USING THE MAYO DATABASE

Waggoner, Julian R., Thomas Wass, C., Polis, Tomasz Z., Faust, Ronald J., Piepgras, David G., Schroeder, Darrell R., Offord, Kenneth P., Joyner, Michael J.

Journal:

Journal of Neurosurgical Anesthesiology

Year:

1998

File:

PDF, 4.66 MB

1998

44

Abstract P69

Lyon, Sarah, Januszyk, Michael, Mayampurath, Anoop, Frim, David M., Waggoner, Darrel J., He, Tong-Chuan, Reid, Russell R.

Journal:

Plastic & Reconstructive Surgery

Year:

2015

Language:

english

File:

PDF, 269 KB

english, 2015

45

Abstract P69

Lyon, Sarah, Januszyk, Michael, Mayampurath, Anoop, Frim, David M., Waggoner, Darrel J., He, Tong-Chuan, Reid, Russell R.

Journal:

Plastic & Reconstructive Surgery

Year:

2015

Language:

english

File:

PDF, 269 KB

english, 2015

46

Abstract 79

Lyon, Sarah, Januszyk, Michael, Mayampurath, Anoop, Waggoner, Darrel J., Frim, David M., He, Tong-Chuan, Reid, Russell R.

Journal:

Plastic & Reconstructive Surgery

Year:

2015

Language:

english

File:

PDF, 257 KB

english, 2015

47

Unique Characteristics of the X Chromosome and Related Disorders

Shah, Kshama, DeRemigis, Alison, Hageman, Joseph R., Sriram, Sudhir, Waggoner, Darrel

Journal:

Year:

2017

Language:

english

File:

PDF, 996 KB

english, 2017

48

The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development) 

Greeley, Siri Atma W., Littlejohn, Elizabeth, Husain, Aliya N., Waggoner, Darrel, Gundeti, Mohan, Rosenfield, Robert L.

Journal:

Hormone Research in Paediatrics

Year:

2017

Language:

english

File:

PDF, 552 KB

english, 2017

49

Medical genetics and genomics education: how do we define success? Where do we focus our resources?

Bennett, Robin L, Waggoner, Darrel, Blitzer, Miriam G

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 78 KB

english, 2017

50

The natural history of phytosterolemia: Observations on its homeostasis

Mymin, David, Salen, Gerald, Triggs-Raine, Barbara, Waggoner, Darrel J., Dembinski, Thomas, Hatch, Grant M.

Journal:

Atherosclerosis

Year:

2017

Language:

english

File:

PDF, 674 KB

english, 2017