Eugene Mcdermott Center For Human Growth & Development

Research Output 1983 2019

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Chapter
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

Scoliosis

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

Scoliosis
Paired Box Transcription Factors
Cartilage Diseases
Multifactorial Inheritance
Developmental Biology
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

Genes
Genomics
Merging
Nucleotides
Medical Informatics

Genetic Interstitial Lung Disease

Garcia, C. K., Mar 6 2017, Interstitial Lung Disease. Elsevier Inc., p. 1-24 24 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Interstitial Lung Diseases
Phenotype
Telomere Shortening
Inborn Genetic Diseases
Endoplasmic Reticulum Stress

Molecular and Genetic Cardiovascular Medicine and Systemic Inflammation

Fox, A. A., Sharma, S., Mounsey, J. P., Durieux, M. E., Whitlock, R. & Bennett-Guerrero, E., Dec 6 2017, Kaplan's Essentials of Cardiac Anesthesia for Cardiac Surgery. Elsevier Inc., p. 94-111 18 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Molecular Biology
Medicine
Inflammation
2015

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

Molecular Biology
Genes
Throughput
Technology
Genome

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

Cell signaling
Cell growth
Terminology
Tissue
Mutation

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

Scoliosis
Genes
Multifactorial Inheritance
Developmental Biology
Neuromuscular Diseases
2014
22 Citations (Scopus)

Analysis of hypoxia-induced metabolic reprogramming

Yang, C., Jiang, L., Zhang, H., Shimoda, L. A., Deberardinis, R. J. & Semenza, G. L., 2014, Methods in Enzymology. Academic Press Inc., Vol. 542. p. 425-455 31 p. (Methods in Enzymology; vol. 542).

Research output: Chapter in Book/Report/Conference proceedingChapter

Glucose
Hypoxia-Inducible Factor 1
Acetyl Coenzyme A
Metabolism
Fatty Acids

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

Nervous System
Databases
Genes
Public Sector
Genomic Structural Variation

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

Clinical Pathology
Electromagnetic Phenomena
Enzyme Assays
NAD
Electrolytes

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

Urinary Incontinence
Urinary Bladder
Injections
Therapeutics

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

Fibroblasts
Cardiac Myocytes
Repair
Stem cells
Hematopoietic Stem Cell Mobilization
1 Citation (Scopus)

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

Facilitative Glucose Transport Proteins
Glucose
Ketogenic Diet
Chorea
Dysarthria

Glut1 Deficiency (G1D)

Pascual, J. M., Oct 29 2014, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 785-795 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Facilitative Glucose Transport Proteins
Glucose
Chorea
Dysarthria
Microcephaly

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

Kernicterus
Gliosis
Basal Ganglia
Bilirubin
Developed Countries
1 Citation (Scopus)

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

Menkes Kinky Hair Syndrome
Copper
Hair
Cytochrome-c Oxidase Deficiency
Subdural Effusion
1 Citation (Scopus)

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

Pyruvate Carboxylase
Mitochondrial Diseases
Citric Acid Cycle
Pyruvic Acid
Oxidoreductases

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

Wolman Disease
Cholesterol Ester Storage Disease
Sterol Esterase
Liver Failure
Steatorrhea
2013
1 Citation (Scopus)

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

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

Ureterocele
Urethral Stricture
Vesico-Ureteral Reflux
Urinary Calculi
Diverticulum
7 Citations (Scopus)

Interferences in Immunoassay

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

Research output: Chapter in Book/Report/Conference proceedingChapter

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

Orchiopexy
Spermatic Cord Torsion
Atrophy
Testis
Orchiectomy

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

Cytogenetics
Tumors
Chromosomes
Pediatrics
Neoplasms

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

Urolithiasis
Lithotripsy
Recurrence
Potassium Citrate
Ureteroscopy
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

Caveolin 1
Adenocarcinoma

Disorders of Muscle Excitability

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Muscular Diseases

Pancreatic cancer and premalignant tumors: Molecular aspects

Brody, J. R., Rittenhouse, D. W., Witkiewicz, A. K. & Yeo, C. J., 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

Pancreatic Neoplasms
Neoplasms

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

Robotics
Safety
Pediatrics
Patient Safety
Laparoscopy
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

Thoracic Aorta
Anesthetics
Operating Rooms
Dissection
Resuscitation

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

Heart-Assist Devices
2010
2 Citations (Scopus)

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

Metabolic Networks and Pathways
Magnetic Resonance Spectroscopy
Carbon
Nuclear magnetic resonance
Metabolism
4 Citations (Scopus)

Cryptorchidism

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Cryptorchidism
7 Citations (Scopus)

Current understanding of genetic factors in idiopathic scoliosis

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Radiography
Scoliosis
Spine
2008

Metabolism of Cell Growth and Proliferation

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Cell Proliferation
Growth
2007

Bladder outlet injection for urinary incontinence

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Urinary Incontinence
Statistical Factor Analysis
Urinary Bladder
Injections
1 Citation (Scopus)

Developmental Neurology: A Molecular Perspective

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Neurology
1 Citation (Scopus)

General principles of cystourethroscopy

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Pediatrics
Minimally Invasive Surgical Procedures
Premature Infants
Endoscopy
Therapeutics

Genetic Disorders of Neuromuscular Development

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Genetic Diseases
1 Citation (Scopus)

Metabolic Diseases of the Nervous System

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Metabolic Diseases
Nervous System

STING for vesicoureteral reflux

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Vesico-Ureteral Reflux
Urinary Tract Infections
Cicatrix
Kidney
Chronic Kidney Failure
2006

Sex chromosome disorders

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

Research output: Chapter in Book/Report/Conference proceedingChapter

Sex Chromosome Disorders
Sex Chromosome Aberrations
Molecular Medicine
Azoospermia
Turner Syndrome
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

RNA Interference
Embryonic Structures
Genes
RNA
Genome
2004
3 Citations (Scopus)

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

Double-Stranded RNA
Small Interfering RNA
Digestion
RNA Interference
Genes
1986
19 Citations (Scopus)

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

Potassium
Skeletal Muscle
Ouabain
Microsomes
Buffers