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1

An assessment of health, social, communication, and daily living skills of adults with down syndrome

Matthews, Theodora J., Allain, Dawn C., Matthews, Anne L., Mitchell, Anna, Santoro, Stephanie L., Cohen, Leslie

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 623 KB

english, 2018

2

Retrospective Study of Obesity in Children with Down Syndrome

Basil, Janet S., Santoro, Stephanie L., Martin, Lisa J., Healy, Katherine Wusik, Chini, Barbara A., Saal, Howard M.

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 561 KB

english, 2016

3

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

Capone, George T., Chicoine, Brian, Bulova, Peter, Stephens, Mary, Hart, Sarah, Crissman, Blythe, Videlefsky, Andrea, Myers, Katherine, Roizen, Nancy, Esbensen, Anna, Peterson, Moya, Santoro, Stephani

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 626 KB

english, 2017

4

Correction: A randomized controlled trial of an online health tool about Down syndrome

Chung, Jeanhee, Donelan, Karen, Macklin, Eric A., Schwartz, Alison, Elsharkawi, Ibrahim, Torres, Amy, Hsieh, Yichuan Grace, Parker, Holly, Lorenz, Stephen, Patsiogiannis, Vasiliki, Santoro, Stephanie

Journal:

Genetics in Medicine

Year:

2021

File:

PDF, 225 KB

2021

5

Protein Kinase C Influence on Kv4.3 Closed State Inactivation

Xie, Chang, Santoro, Stephanie C., Strauss, Harold C., Morales, Michael J.

Journal:

Biophysical Journal

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

6

Diversity in Interaction and Gating Modification of Kv4 Channels by Hptx2

Desimone, Christopher V., Santoro, Stephanie C., Xie, Chang, Hoefler, Edward C., Makhija, Pooja, Bondarenko, Vladimir E., Morales, Michael J.

Journal:

Biophysical Journal

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

7

Is Dexmedetomidine More Effective Than Remifentanil for Neurologic Outcomes in Patients Undergoing CEA Surgery Using Regional Anesthesia?

Carter, Ryan, Richardson, Aly, Santoro, Jennifer, Beddows, Stephanie, McCarthy, E. Jane

Journal:

Journal of PeriAnesthesia Nursing

Year:

2014

Language:

english

File:

PDF, 102 KB

english, 2014

8

Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome

Santoro, Stephanie L., Martin, Lisa J., Pleatman, Stephen I., Hopkin, Robert J.

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 312 KB

english, 2016

9

Contributions to Racial Disparity in Mortality among Children with Down Syndrome

Santoro, Stephanie L., Esbensen, Anna J., Hopkin, Robert J., Hendershot, Lesly, Hickey, Francis, Patterson, Bonnie

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 272 KB

english, 2016

10

Multimodality Renal Failure in a Patient with OEIS Complex

Santoro, Jonathan, Chao, Stephanie, Hsieh, Michael, Lee, Henry

Journal:

American Journal of Perinatology Reports

Year:

2015

Language:

english

File:

PDF, 189 KB

english, 2015

11

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

12

Use of a levonorgestrel-containing intrauterine system with supplemental estrogen improves symptoms in perimenopausal women

Santoro, Nanette, Teal, Stephanie, Gavito, Christina, Cano, Sandra, Chosich, Justin, Sheeder, Jeanelle

Journal:

Year:

2015

Language:

english

File:

PDF, 381 KB

english, 2015

13

Three-dimensional X-ray microcomputed tomography of carbonates and biofilm on operated cathode in single chamber microbial fuel cell

Santini, Maurizio, Guilizzoni, Manfredo, Lorenzi, Massimo, Atanassov, Plamen, Marsili, Enrico, Fest-Santini, Stephanie, Cristiani, Pierangela, Santoro, Carlo

Journal:

Year:

2015

Language:

english

File:

PDF, 5.04 MB

english, 2015

14

Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts

Santoro, Stephanie L, Atoum, Dema, Hufnagel, Robert B, Motley, William W

Journal:

SAGE Open Medicine

Year:

2017

Language:

english

File:

PDF, 342 KB

english, 2017

15

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

Santoro, Stephanie L., Hashimoto, Sayaka, McKinney, Aimee, Mihalic Mosher, Theresa, Pyatt, Robert, Reshmi, Shalini C., Astbury, Caroline, Hickey, Scott E.

Journal:

Cytogenetic and Genome Research

Year:

2017

Language:

english

File:

PDF, 86 KB

english, 2017

16

The Conserved, Disease-Associated RNA Binding Protein dNab2 Interacts with the Fragile X Protein Ortholog in Drosophila Neurons

Bienkowski, Rick S., Banerjee, Ayan, Rounds, J. Christopher, Rha, Jennifer, Omotade, Omotola F., Gross, Christina, Morris, Kevin J., Leung, Sara W., Pak, ChangHui, Jones, Stephanie K., Santoro, Michae

Journal:

Year:

2017

Language:

english

File:

PDF, 3.38 MB

english, 2017

17

Extracorporeal Membrane Oxygenation Characteristics and Outcomes in Adult Patients With Down Syndrome

Duffy, Vicky, Gomez, Daniel, Rycus, Peter, Rivera, Brian, Santoro, Stephanie L, Backes, Carl H, Cua, Clifford L

Journal:

Artificial Organs

Year:

2018

Language:

english

File:

PDF, 117 KB

english, 2018

18

Use of Electronic Health Record Integration for Down Syndrome Guidelines

Santoro, Stephanie L., Bartman, Thomas, Cua, Clifford L., Lemle, Stephanie, Skotko, Brian G.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.05 MB

english, 2018

19

Prevalence and Severity of Alzheimer Disease in Individuals With Down Syndrome

Rafii, Michael S., Santoro, Stephanie L.

Journal:

Year:

2018

Language:

english

File:

PDF, 109 KB

english, 2018

20

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Konrad, Enrico D. H., Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L., Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfun

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 2.00 MB

english, 2019

21

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene

Barrie, Elizabeth S., Cottrell, Catherine E., Gastier-Foster, Julie, Hickey, Scott E., Patel, Anup D., Santoro, Stephanie L., Alfaro, Maria P.

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 667 KB

english, 2019

22

Detection of iron deficiency in children with Down syndrome

Hart, Sarah J., Zimmerman, Kanecia, Linardic, Corinne M., Cannon, Sheila, Pastore, Anna, Patsiogiannis, Vasiliki, Rossi, Paolo, Santoro, Stephanie L., Skotko, Brian G., Torres, Amy, Valentini, Diletta

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 551 KB

2019

23

Usefulness of Postnatal Echocardiography in Patients with Down Syndrome with Normal Fetal Echocardiograms

Cooper, Amy, Sisco, Kacy, Backes, Carl H., Dutro, Marc, Seabrook, Ruth, Santoro, Stephanie L., Cua, Clifford L.

Journal:

Pediatric Cardiology

Year:

2019

Language:

english

File:

PDF, 485 KB

english, 2019

24

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

Lin, Angela E., Santoro, Stephanie, High, Frances A., Goldenberg, Paula, Gutmark‐Little, Iris

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

Language:

english

File:

PDF, 1.41 MB

english, 2019

25

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Santoro, Stephanie L., Cannon, Sheila, Capone, George, Franklin, Cathy, Hart, Sarah J., Hobensack, Victoria, Kishnani, Priya S., Macklin, Eric A., Manickam, Kandamurugu, McCormick, Andrew, Nash, Patri

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 449 KB

2019

26

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

Lin, Angela E., Santoro, Stephanie, High, Frances A., Goldenberg, Paula, Gutmark‐Little, Iris

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

File:

PDF, 1.41 MB

2019

27

Screening for BKV-DNAEMIA after renal transplantation in a resource limited setting

de Almeida, Stéphanie Gomes Santos, Santoro-Lopes, Guilherme, Savassi-Ribas, Flavia, Wagner, Tereza Cristina Simão, Matuck, Tereza Azevedo, de Boni Monteiro de Carvalho, Deise, Zalona, Ana Carolina Jo

Journal:

Diagnostic Microbiology and Infectious Disease

Year:

2020

Language:

english

File:

PDF, 714 KB

english, 2020

28

Feeding difficulty and gastrostomy tube placement in infants with Down syndrome

Poskanzer, Sheri A., Hobensack, Victoria L., Ciciora, Steven L., Santoro, Stephanie L.

Journal:

European Journal of Pediatrics

Year:

2020

Language:

english

File:

PDF, 349 KB

english, 2020

29

Coâoccurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II

Capone, George, Stephens, Mary, Santoro, Stephanie, Chicoine, Brian, Bulova, Peter, Peterson, Moya, Jasien, Joan, Smith, Anna Jo

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.67 MB

2020

30

Intrahepatic fat, irrespective of ethnicity, is associated with reduced endogenous insulin clearance and hepatic insulin resistance in obese youths: a crossâsectional and longitudinal study from the Yale Pediatric NAFLD cohort

TricÃ², Domenico, Galderisi, Alfonso, Mari, Andrea, Polidori, David, Galuppo, Brittany, Pierpont, Bridget, Samuels, Stephanie, Santoro, Nicola, Caprio, Sonia

Journal:

Diabetes, Obesity and Metabolism

Year:

2020

File:

PDF, 1.13 MB

2020

31

Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance

Rosso, Mattia, Fremion, Ellen, Santoro, Stephanie L., Oreskovic, Nicolas M., Chitnis, Tanuja, Skotko, Brian G., Santoro, Jonathan D.

Journal:

Year:

2020

File:

PDF, 820 KB

2020

32

Workshop on normal reference ranges for estradiol in postmenopausal women

Pinkerton, JoAnn V., Liu, James H., Santoro, Nanette F., Thurston, Rebecca C., Joffe, Hadine, Faubion, Stephanie S., Manson, JoAnn E.

Journal:

Year:

2020

File:

PDF, 111 KB

2020

33

Physical activity patterns in adults with Down Syndrome

Oreskovic, Nicolas M., Cottrell, Clorinda, Torres, Amy, Patsiogiannis, Vasiliki, Santoro, Stephanie, Nichols, Dominica, Moore, Cynthia, Skotko, Brian G.

Journal:

Journal of Applied Research in Intellectual Disabilities

Year:

2020

File:

PDF, 511 KB

2020

34

Chromogranin-A serum levels in patients with takotsubo syndrome and ST elevation acute myocardial infarction

Tarantino, Nicola, Santoro, Francesco, Di Biase, Luigi, Di Terlizzi, Vito, Vitale, Enrica, Rocca, Domenico Giovanni Della, De La Cruz, Nicole Stephany De Leon, Di Biase, Matteo, Brunetti, Natale Danie

Journal:

International Journal of Cardiology

Year:

2020

File:

PDF, 862 KB

2020

35

A Reduced Incretin Effect Mediated by the rs7903146 Variant in the TCF7L2 Gene Is an Early Marker of Î²-Cell Dysfunction in Obese Youth

Galderisi, Alfonso, TricÃ², Domenico, Pierpont, Bridget, Shabanova, Veronika, Samuels, Stephanie, Dalla Man, Chiara, Galuppo, Brittany, Santoro, Nicola, Caprio, Sonia

Journal:

Year:

2020

File:

PDF, 1.35 MB

2020

36

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome

Hickey, Scott E., Kellogg, Brian, OâBrien, Meghan, Hall, Courtney, Kirschner, Richard E., Santoro, Stephanie L., Leonard, Hayley, Baylis, Adriane L.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2020

File:

PDF, 507 KB

2020

37

A randomized controlled trial of an online health tool about Down syndrome

Chung, Jeanhee, Donelan, Karen, Macklin, Eric A., Schwartz, Alison, Elsharkawi, Ibrahim, Torres, Amy, Hsieh, Yichuan Grace, Parker, Holly, Lorenz, Stephen, Patsiogiannis, Vasiliki, Santoro, Stephanie

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 396 KB

2020