Eugene Mcdermott Center For Human Growth & Development

Research Output

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2018

Current understanding of genetic factors in idiopathic scoliosis

Wise, C. A. & Ikegawa, S., Jun 12 2018, The Genetics and Development of Scoliosis: Second Edition. Springer International Publishing, p. 139-157 19 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Genetic Interstitial Lung Disease

Garcia, C. K., Jan 1 2018, Interstitial Lung Disease. Elsevier Inc., p. 1-24 24 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Molecular and Genetic Cardiovascular Medicine and Systemic Inflammation

Fox, A. A., Sharma, S., Mounsey, J. P., Durieux, M. E., Whitlock, R. & Bennett-Guerrero, E., Jan 1 2018, Kaplan's Essentials of Cardiac Anesthesia for Cardiac Surgery. Elsevier Inc., p. 94-111 18 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

The genetic architecture of adolescent idiopathic scoliosis

Khanshour, A. M. & Wise, C. A., Jan 1 2018, Pathogenesis of Idiopathic Scoliosis. Springer Japan, p. 51-74 24 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2017

Autism Spectrum Disorder

Saxena, A. & Chahrour, M., Mar 23 2017, Genomic and Precision Medicine: Primary Care: Third Edition. Elsevier Inc., p. 301-316 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2015

Glut1 Deficiency (G1D)

Pascual, J. M., Jan 1 2015, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 785-795 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Overview of next generation, high-throughput molecular genetic methods

Rios, J. J., Jan 1 2015, Molecular Genetics of Pediatric Orthopaedic Disorders. Springer New York, p. 1-16 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Somatic mutations in overgrowth syndromes

Rios, J. J. & Ezaki, M., Jan 1 2015, Molecular Genetics of Pediatric Orthopaedic Disorders. Springer New York, p. 153-165 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

The genetic architecture of idiopathic scoliosis

Wise, C. A., Jan 1 2015, Molecular Genetics of Pediatric Orthopaedic Disorders. Springer New York, p. 71-89 19 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
2014

Analysis of hypoxia-induced metabolic reprogramming

Yang, C., Jiang, L., Zhang, H., Shimoda, L. A., Deberardinis, R. J. & Semenza, G. L., 2014, Conceptual Background and Bioenergetic/Mitochondrial Aspects of Oncometabolism. Academic Press Inc., p. 425-455 31 p. (Methods in Enzymology; vol. 542).

Research output: Chapter in Book/Report/Conference proceedingChapter

31 Scopus citations

A Neurologic Gene Map

Kayani, S. N., Wilson, K. S. & Rosenberg, R. N., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 1333-1400 68 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Assay Principles in CLinical Pathology

Kricka, L. J. & Park, J. Y., Jan 1 2014, Pathobiology of Human Disease: A Dynamic Encyclopedia of Disease Mechanisms. Elsevier Inc., p. 3207-3221 15 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Bladder outlet injection for urinary incontinence

Yucel, S. & Baker, L. A., Dec 1 2014, Pediatric Endourology Techniques. Springer-Verlag London Ltd, Vol. 9781447153948. p. 217-227 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Challenges and new directions for cardiac reprogramming

Nam, Y. J. & Munshi, N., Jul 4 2014, Chemical Biology in Regenerative Medicine: Bridging Stem Cells and Future Therapies. wiley, p. 49-58 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Glucose Transporter Type I Deficiency and Other Glucose Flux Disorders

Pascual, J. M., Wang, D. & De Vivo, D. C., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 649-662 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Kernicterus

Pascual, J. M., Jan 1 2014, Encyclopedia of the Neurological Sciences. Elsevier Inc., p. 801-804 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Menkes Disease and Other ATP7A Disorders

Pascual, J. M. & Menkes, J. H., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 455-462 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Pyruvate Dehydrogenase, Pyruvate Carboxylase, Krebs Cycle and Mitochondrial Transport Disorders

Tondo, M., Marin-Valencia, I., Ma, Q. & Pascual, J. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 291-297 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Wolman Disease

Marin-Valencia, I. & Pascual, J. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 403-409 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2013

Autism Spectrum Disorders

Yu, T. W., Coulter, M., Chahrour, M. & Walsh, C. A., Aug 29 2013, Genomic and Personalized Medicine. Elsevier Inc., Vol. 2. p. 1067-1074 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

General principles of cystourethroscopy

Keays, M. A. & Baker, L. A., Dec 1 2013, Pediatric Endourology Techniques. Springer-Verlag London Ltd, p. 191-206 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Interferences in Immunoassay

Park, J. Y. & Kricka, L. J., Aug 29 2013, The Immunoassay Handbook. Elsevier Ltd, p. 403-416 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

7 Scopus citations

Testicular torsion

Snodgrass, W. T., Baker, L. A. & Bush, N. C., Jun 1 2013, Pediatric Urology: Evidence for Optimal Patient Management. Springer New York, p. 89-102 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

The cytogenetics of solid tumors

Cooley, L. D. & Wilson, K. S., Jan 1 2013, The Principles of Clinical Cytogenetics, Third Edition. Springer New York, p. 371-411 41 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Urolithiasis

Baker, L. A. & Bush, N. C., Jun 1 2013, Pediatric Urology: Evidence for Optimal Patient Management. Springer New York, p. 259-274 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2012

Caveolin-1 and pancreatic ductal adenocarcinoma

Rittenhouse, D. W., Mukherjee, O., Richards, N. G., Yeo, C. J., Witkiewicz, A. K. & Brody, J. R., Jan 1 2012, Caveolins in Cancer Pathogenesis, Prevention and Therapy. Springer New York, p. 43-52 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Disorders of Muscle Excitability

Pascual, J. M., Dec 1 2012, Basic Neurochemistry. Elsevier, p. 783-800 18 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pancreatic cancer and premalignant tumors: Molecular aspects

Brody, J. R., Rittenhouse, D. W., Witkiewicz, A. K. & Yeo, C. J., Dec 1 2012, Blumgart's Surgery of the Liver, Biliary Tract, and Pancreas. Elsevier Inc., Vol. 1. p. 123-134 12 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Robotic Surgery Complications and Safety

Dajusta, D. & Baker, L. A., Feb 3 2012, Pediatric Robotic and Reconstructive Urology: A Comprehensive Guide. Wiley-Blackwell, p. 277-289 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2011

Anesthetic considerations for surgical repair of the thoracic aorta

Gelfand, B. J. & Fox, A. A., Jan 1 2011, Essential Clinical Anesthesia. Cambridge University Press, p. 485-491 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Ventricular assist devices

Fox, A. A. & Fox, J. A., Jan 1 2011, Essential Clinical Anesthesia. Cambridge University Press, p. 479-484 6 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2010

Carbon-13 nuclear magnetic resonance for analysis of metabolic pathways

Malloy, C. R., Maher, E., Marin-Valencia, I., Mickey, B., Deberardinis, R. J. & Dean Sherry, A., Jan 1 2010, Methodologies for Metabolomics: Experimental Strategies and Techniques. Cambridge University Press, p. 415-445 31 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Cryptorchidism

Burgu, B., Baker, L. A. & Docimo, S. G., Dec 1 2010, Pediatric Urology. Elsevier Inc., p. 563-576 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

5 Scopus citations

Current understanding of genetic factors in idiopathic scoliosis

Wise, C. A. & Sharma, S., Jan 1 2010, The Genetics and Development of Scoliosis. Springer New York, p. 167-190 24 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

7 Scopus citations
2008

Metabolism of Cell Growth and Proliferation

DeBerardinis, R. J. & Thompson, C. B., Dec 1 2008, The Molecular Basis of Cancer. Elsevier Inc., p. 189-203 15 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2007

Bladder outlet injection for urinary incontinence

Yucel, S. & Baker, L. A., Dec 1 2007, Pediatric Endourology Techniques. Springer London, p. 85-91 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Developmental Neurology: A Molecular Perspective

Pascual, J. M., Dec 1 2007, Molecular Neurology. Elsevier Inc., p. 145-147 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

General principles of cystourethroscopy

Baker, L. A., Dec 1 2007, Pediatric Endourology Techniques. Springer London, p. 67-76 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Genetic Disorders of Neuromuscular Development

Pascual, J. M., Dec 1 2007, Molecular Neurology. Elsevier Inc., p. 163-176 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Metabolic Diseases of the Nervous System

Pascual, J. M., Dec 1 2007, Molecular Neurology. Elsevier Inc., p. 149-161 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

STING for vesicoureteral reflux

Yucel, S. & Baker, L. A., Dec 1 2007, Pediatric Endourology Techniques. Springer London, p. 77-84 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2006

Sex chromosome disorders

Zinn, A. R., Dec 1 2006, Principles of Molecular Medicine. Humana Press, p. 446-452 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2005

RNA interference in postimplantation mouse embryos

Buchholz, F., Calegari, F., Kittler, R. & Huttner, W. B., Jan 1 2005, RNA Interference Technology: From Basic Science to Drug Development. Cambridge University Press, p. 207-219 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2004

Production of siRNA In Vitro by enzymatic digestion of double-stranded RNA

Buchholz, F., Drechsel, D., Ruer, M. & Kittler, R., Jan 1 2004, Gene Silencing by RNA Interference: Technology and Application. CRC Press, p. 87-99 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations
1986

Extrarenal potassium adaptation: Role of skeletal muscle

Blachley, J. D., Crider, B. P. & Johnson, J. H., 1986, American Journal of Physiology - Renal Fluid and Electrolyte Physiology. 2 ed. Vol. 251.

Research output: Chapter in Book/Report/Conference proceedingChapter

21 Scopus citations