Search Results - "Waxler, Jessica L."

Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome by Huston, John C., Thom, Robyn P., Ravichandran, Caitlin T., Mullett, Jennifer E., Moran, Carly, Waxler, Jessica L., Pober, Barbara R., McDougle, Christopher J.

“…The purpose of the study was to characterize repetitive phenomena in Williams syndrome (WS). The parents of 60 subjects with WS completed the Yale-Brown…”
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Hypercalcemia in Patients with Williams-Beuren Syndrome by Sindhar, Sampat, BS, Lugo, Michael, BS, Levin, Mark D., MD, Danback, Joshua R., BS, Brink, Benjamin D., MS, Yu, Eric, BA, Dietzen, Dennis J., PhD, Clark, Amy L., DO, Purgert, Carolyn A., MD, PhD, Waxler, Jessica L., MS, Elder, Robert W., MD, Pober, Barbara R., MD, Kozel, Beth A., MD, PhD

“…Objective To evaluate the timing, trajectory, and implications of hypercalcemia in Williams-Beuren syndrome (WBS) through a multicenter retrospective study…”
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Personalized Genetic Risk Counseling to Motivate Diabetes Prevention: A randomized trial by GRANT, Richard W, O'BRIEN, Kelsey E, FLOREZ, Jose C, MEIGS, James B, WAXLER, Jessica L, VASSY, Jason L, DELAHANTY, Linda M, BISSETT, Laurie G, GREEN, Robert C, STEMBER, Katherine G, GUIDUCCI, Candace, PARK, Elyse R

“…To examine whether diabetes genetic risk testing and counseling can improve diabetes prevention behaviors. We conducted a randomized trial of diabetes genetic…”
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Glucose and lipid metabolism, bone density, and body composition in individuals with Williams syndrome by Shaikh, Sofia, Waxler, Jessica L., Lee, Hang, Grinke, Kathy, Garry, Jamie, Pober, Barbara R., Stanley, Takara L.

“…Summary Objective We assessed body composition, bone mineral density (BMD), glucose and lipids in Williams syndrome (WS), a rare microdeletion disorder. Design…”
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Buspirone for the Treatment of Generalized Anxiety Disorder in Williams Syndrome: A Case Series by Thom, Robyn P., Keary, Christopher J., Waxler, Jessica L., Pober, Barbara R., McDougle, Christopher J.

“…Co-morbid anxiety disorders, including generalized anxiety disorder (GAD), are highly prevalent among individuals with Williams syndrome (WS). However, reports…”
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Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1 by Kozel, Beth A, Danback, Joshua R, Waxler, Jessica L, Knutsen, Russell H, de las Fuentes, Lisa, Reusz, Gyorgy S, Kis, Eva, Bhatt, Ami B, Pober, Barbara R

“…Williams syndrome is caused by the deletion of 26 to 28 genes, including elastin, on human chromosome 7. Elastin insufficiency leads to the cardiovascular…”
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Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series by Valdes, Francisca, Keary, Christopher J., Mullett, Jennifer E., Palumbo, Michelle L., Waxler, Jessica L., Pober, Barbara R., McDougle, Christopher J.

“…Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the…”
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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay by Mucha, Bettina E., Banka, Siddharth, Ajeawung, Norbert Fonya, Molidperee, Sirinart, Chen, Gary G., Koenig, Mary Kay, Adejumo, Rhamat B., Till, Marianne, Harbord, Michael, Perrier, Renee, Lemyre, Emmanuelle, Boucher, Renee-Myriam, Skotko, Brian G., Waxler, Jessica L., Thomas, Mary Ann, Hodge, Jennelle C., Gecz, Jozef, Nicholl, Jillian, McGregor, Lesley, Linden, Tobias, Sisodiya, Sanjay M., Sanlaville, Damien, Cheung, Sau W., Ernst, Carl, Campeau, Philippe M.

“…Purpose Contiguous gene deletions are known to cause several neurodevelopmental syndromes, many of which are caused by recurrent events on chromosome 16…”
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Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report by Waxler, Jessica L, Guardino, Cara, Feinn, Richard S, Lee, Hang, Pober, Barbara R, Stanley, Takara L

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Post-Traumatic Stress Disorder Following Cardiac Surgery: A Case Report of a Nine-Year-Old Female with Williams Syndrome by Alexander, Abigail J, Gallagher, Aidan, Pober, Barbara R, Waxler, Jessica L, McDougle, Christopher J

“…Background: Post-traumatic stress disorder (PTSD) in paediatric patients following cardiac surgery has been well reported. Patients with Williams syndrome…”
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Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay by Mucha, Bettina E., Banka, Siddharth, Ajeawung, Norbert Fonya, Molidperee, Sirinart, Chen, Gary G., Koenig, Mary Kay, Adejumo, Rhamat B., Till, Marianne, Harbord, Michael, Perrier, Renee, Lemyre, Emmanuelle, Boucher, Renee-Myriam, Skotko, Brian G., Waxler, Jessica L., Thomas, Mary Ann, Hodge, Jennelle C., Gecz, Jozef, Nicholl, Jillian, McGregor, Lesley, Linden, Tobias, Sisodiya, Sanjay M., Sanlaville, Damien, Cheung, Sau W., Ernst, Carl, Campeau, Philippe M.

“…The original version of this Article contained an error in the spelling of the author Siddharth Banka, which was incorrectly given as Siddhart Banka. This has…”
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Impact of Literacy and Numeracy on Motivation for Behavior Change After Diabetes Genetic Risk Testing by Vassy, Jason L., O’Brien, Kelsey E., Waxler, Jessica L., Park, Elyse R., Delahanty, Linda M., Florez, Jose C., Meigs, James B., Grant, Richard W.

“…Background Type 2 diabetes genetic risk testing might motivate at-risk patients to adopt diabetes prevention behaviors. However, the influence of literacy and…”
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Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child by Waxler, Jessica L., Cherniske, Elizabeth M., Dieter, Kristen, Herd, Pamela, Pober, Barbara R.

“…Healthcare providers often share difficult or life‐altering news with their patients yet this challenging and delicate process is frequently met with…”
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Skin findings in Williams syndrome by Kozel, Beth A., Bayliss, Susan J., Berk, David R., Waxler, Jessica L., Knutsen, Russell H., Danback, Joshua R., Pober, Barbara R.

“…Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams–Beuren syndrome) has shown subtly softer skin and…”
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N-Acetylcysteine for Neuropsychiatric Symptoms in a Woman With Williams Syndrome by Pineiro, Mildred Lopez, Roberts, Antoinette M., Waxler, Jessica L., Mullett, Jennifer E., Pober, Barbara R., McDougle, Christopher J.

“…Williams syndrome is a relatively rare genetic disorder caused by the hemizygous microdeletion of a region in chromosome 7q11.23. Individuals with Williams…”
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Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders by Waxler, Jessica L., O’Brien, Kelsey E., Delahanty, Linda M., Meigs, James B., Florez, Jose C., Park, Elyse R., Pober, Barbara R., Grant, Richard W.

“…Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk testing based…”
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Personalized Genetic Risk Counseling to Motivate Diabetes Prevention by Grant, Richard W., O’Brien, Kelsey E., Waxler, Jessica L., Vassy, Jason L., Delahanty, Linda M., Bissett, Laurie G., Green, Robert C., Stember, Katherine G., Guiducci, Candace, Park, Elyse R., Florez, Jose C., Meigs, James B.

“…OBJECTIVE To examine whether diabetes genetic risk testing and counseling can improve diabetes prevention behaviors. RESEARCH DESIGN AND METHODS We conducted a…”
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Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: The Genetic Counseling/Lifestyle Change (GC/LC) Study for Diabetes Prevention by Grant, Richard W, Meigs, James B, Florez, Jose C, Park, Elyse R, Green, Robert C, Waxler, Jessica L, Delahanty, Linda M, O’Brien, Kelsey E

“…Background The efficacy of diabetes genetic risk testing to motivate behavior change for diabetes prevention is currently unknown. Purpose This paper presents…”
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Williams syndrome: a multidisciplinary approach to care by Waxler, Jessica L, Levine, Karen, Pober, Barbara R

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Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly by Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

“…Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome…”
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