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1

Smith–Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways

Elsea, Sarah H., Williams, Stephen R.

Journal:

Expert Reviews in Molecular Medicine

Year:

2011

Language:

english

File:

PDF, 581 KB

english, 2011

2

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

Williams, S. R., Girirajan, S., Tegay, D., Nowak, N., Hatchwell, E., Elsea, S. H.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 364 KB

english, 2010

3

Rapid Disruption of Genes Specifically in Livers of Mice Using Multiplex CRISPR/Cas9 Editing

Pankowicz, Francis P., Barzi, Mercedes, Kim, Kang Ho, Legras, Xavier, Martins, Celeste Santos, Wooton-Kee, Clavia Ruth, Lagor, William R., Marini, Juan C., Elsea, Sarah H., Bissig-Choisat, Beatrice, M

Journal:

Gastroenterology

Year:

2018

Language:

english

File:

PDF, 3.06 MB

english, 2018

4

A priority dispatch system for emergency medical services

Corey M Slovis, Thea B Carruth, William J Seitz, Celia M Thomas, William R Elsea

Journal:

Annals of Emergency Medicine

Year:

1985

Language:

english

File:

PDF, 548 KB

english, 1985

5

Tom1l2hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response

Santhosh Girirajan, Paula M. Hauck, Stephen Williams, Christopher N. Vlangos, Barbara B. Szomju, Sara Solaymani-Kohal, Philip D. Mosier, Kimber L. White, Kathleen McCoy, Sarah H. Elsea

Journal:

Mammalian Genome

Year:

2008

Language:

english

File:

PDF, 1.64 MB

english, 2008

6

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

S Girirajan, SR Williams, JY Garbern, N Nowak, E Hatchwell, SH Elsea

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 433 KB

english, 2007

7

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 448 KB

english, 2009

8

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis, Sarah H. Elsea

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.19 MB

english, 2010

9

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Stephen R. Williams, Deborah Zies, Sureni V. Mullegama, Michael S. Grotewiel, Sarah H. Elsea

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 498 KB

english, 2012

10

Toxicologic studies on clomiphene

James W. Newberne, William L. Kuhn, John R. Elsea

Journal:

Toxicology and Applied Pharmacology

Year:

1966

Language:

english

File:

PDF, 765 KB

english, 1966

11

Comparative chronic toxicity of three oral estrogens in rats

John P. Gibson, James W. Newberne, William L. Kuhn, John R. Elsea

Journal:

Toxicology and Applied Pharmacology

Year:

1967

Language:

english

File:

PDF, 22.76 MB

english, 1967

12

Epidemiology of pertussis, Atlanta, 1977

Claire V. Broome, Stephen R. Preblud, Barbara Bruner, John E. McGowan, Peggy S. Hayes, Patricia P. Harris, William Elsea, David W. Fraser

Journal:

The Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 387 KB

english, 1981

13

Epidemic Keratoconjunctivitis: Report of an Outbreak in an Ophthalmology Practice and Recommendations for Prevention

James W. Buehler, Robert J. Finton, Richard A. Goodman, Keewhan Choi, John C. Hierholzer, R. Keith Sikes and William R. Elsea

Journal:

Infection Control

Year:

1984

Language:

english

File:

PDF, 1.08 MB

english, 1984

14

Hepatitis B Virus Infection among Children Born in the United States to Southeast Asian Refugees

Franks, Adele L., Berg, Cynthia J., Kane, Mark A., Browne, Barbara B., Sikes, R. Keith, Elsea, William R., Burton, Anthony H.

Journal:

Boston Medical and Surgical Journal

Year:

1989

Language:

english

File:

PDF, 1.60 MB

english, 1989

15

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

Burns, B., Schmidt, K., Williams, S. R., Kim, S., Girirajan, S., Elsea, S. H.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 630 KB

english, 2010

16

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Miller, Marcus J., Burrage, Lindsay C., Gibson, James B., Strenk, Meghan E., Lose, Edward J., Bick, David P., Elsea, Sarah H., Sutton, V. Reid, Sun, Qin, Graham, Brett H., Craigen, William J., Zhang,

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 734 KB

english, 2015

17

Efficient Local-State-Federal Public Health Systems

William R. Elsea

Journal:

Journal of Public Health Policy

Year:

1982

Language:

english

File:

PDF, 377 KB

english, 1982

18

Outbreak of Acute Eye Irritation Associated with Air Pollution: Epidemologic Aspects

Robert A. Partridge, James H. Stebbings, Jr., William R. Elsea and Warren Winkelstein, Jr.

Journal:

Public Health Reports (1896-1970)

Year:

1966

Language:

english

File:

PDF, 357 KB

english, 1966

19

Epidemiologic and Microbiological Study of a Shigella flexneri Outbreak

William R. Elsea, Robert A. Partridge and Erwin Neter

Journal:

Public Health Reports (1896-1970)

Year:

1967

Language:

english

File:

PDF, 647 KB

english, 1967

20

An Epidemic of Food-Associated Pharyngitis and Diarrhea

Elsea, William R., Mosher, William E., Lennon, Richard G., Markellis, Victoria, Hoffman, Paul F.

Journal:

Archives of Environmental Health An International Journal

Year:

1971

Language:

english

File:

PDF, 1.32 MB

english, 1971

21

Efficacy of Varied Doses of Gamma Globulin During an Epidemic of Infectious Hepatitis, Hoonah, Alaska, 1961

Aach, Richard D., Elsea, William R., Lyerly, Jeanine, Henderson, Donald A.

Journal:

American Journal of Public Health and the Nations Health

Year:

1963

Language:

english

File:

PDF, 679 KB

english, 1963

22

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor

Le, Trang N., Williams, Stephen R., Alaimo, Joseph T., Elsea, Sarah H.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.59 MB

english, 2019

23

Epidemic Keratoconjunctivitis: Report of an Outbreak in an Ophthalmology Practice and Recommendations for Prevention

Buehler, James W., Finton, Robert J., Goodman, Richard A., Choi, Keewhan, Hierholzer, John C., Sikes, R. Keith, Elsea, William R.

Journal:

Infection Control

Year:

1984

File:

PDF, 572 KB

1984