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3. Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

Author

Wu, Yaning, primary, Gause, Maria, additional, Xu, Dongbin, additional, Misulovin, Ziva, additional, Schaaf, Cheri A., additional, Mosarla, Ramya C., additional, Mannino, Elizabeth, additional, Shannon, Megan, additional, Jones, Emily, additional, Shi, Mi, additional, Chen, Wen-Feng, additional, Katz, Olivia L., additional, Sehgal, Amita, additional, Jongens, Thomas A., additional, Krantz, Ian D., additional, and Dorsett, Dale, additional

Published
2015
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4. Congenital methemoglobinemia type II in a 5‐year‐old boy.

Author

Mannino, Elizabeth A., Pluim, Thomas, Wessler, Jacob, Cho, Megan T., Juusola, Jane, and Schrier Vergano, Samantha A.

Subjects
*LEUKODYSTROPHY, *NEUROLOGICAL errors, *EPILEPSY, *RARE diseases
Abstract

Key Clinical Message: Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger‐scale genetic studies. [ABSTRACT FROM AUTHOR]

Published
2018
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5. Directly observed therapy for tuberculosis

Author

Mannino, Elizabeth and Hill, Linda

Subjects
Patient compliance -- Research, Tuberculosis -- Care and treatment -- Research, Health, Care and treatment, Research
Abstract

From 1985 to 1992, there was an increase in the number of active tuberculosis (TB) cases, from 22,000 to 26,673, reversing a downward trend of three decades. This resurgence in [...]

Published
1996

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