Search Results - "Dhar, U."

P216 Therapeutic Mammoplasty: Assures conservation, Elevates lifestyle. Data from the largest Asian cohort by Koppiker, C.B, Joshi, S., Mishra, R., Kelkar, D., Bagdia, A., Joshi, A., John, J., Kadu, S., Chigurupati, P., Sharan, G., Dhar, U., Allampati, H., Nare, S.

Get full text

P218 Perforator Flaps: Can they be an elixir for the oncoplasty woes of developing nations? by Koppiker, C.B, Joshi, S., Mishra, R., Kelkar, D., Bagdia, A., Gupta, N., Joshi, A., John, J., Kadu, S., Sharan, G., Dhar, U., Allampati, H., Nare, S.

Get full text

P225 Impact Of Oncoplasty in Increasing Breast Conservation Rates Post Neo-Adjuvant Chemotherapy by Koppiker, C.B, Kelkar, D.A, Kulkarni, M., Pai, M., Dhar, U., Deshmukh, C., Varghese, B., Jumle, N., Zamre, V., Kadu, S., Joshi, A., Unde, R., Banale, R., Namewar, N., Vaid, P., Thomas, G., Nare, S., Pereira, J., Badve, S.

Get full text

Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders by Chen, Lei-Shih, Xu, Lei, Huang, Tse-Yang, Dhar, Shweta U.

“…Purpose: The goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children…”
Get full text

Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies by Chen, L.S., Xu, L., Dhar, S.U., Li, M., Talwar, D., Jung, E.

“…In the United States, prenatal genetic testing (PGT) for Autism Spectrum Disorders (ASD) is currently available via clinical genetic services. Such testing may…”
Get full text

Immediate breast reconstruction surgery using implants and autologous lower dermal sling procedure may mitigate radiation therapy complications by Koppiker, C, Dhar, U, Sharan, G, Verghese, B, Dixit, S, Patel, C, Nare, S

Get full text

Genetic testing and cancer risk management recommendations by physicians for at-risk relatives by Plon, Sharon E., Cooper, H. Paul, Parks, Bethany, Dhar, Shweta U., Kelly, P. Adam, Weinberg, Armin D., Staggs, Stephanie, Wang, Tao, Hilsenbeck, Susan

“…Sequence-based cancer susceptibility testing results are described as negative, deleterious mutation or variant of uncertain significance. We studied the…”
Get full text

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures by Assia Batzir, Nurit, Bhagwat, Pranjali K, Eble, Tanya N, Liu, Pengfei, Eng, Christine M, Elsea, Sarah H, Robak, Laurie A, Scaglia, Fernando, Goldman, Alica M, Dhar, Shweta U, Wangler, Michael F

“…encodes a GTPase of the dynamin superfamily, which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle…”
Get full text

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders by Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J. C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P. A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.

“…Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed…”
Get full text

Patterns of litterfall and return of nutrients across anthropogenic disturbance gradients in three subalpine forests of west Himalaya, India by Gairola, Sanjay, Rawal, Ranbeer S., Dhar, U.

“…The study was conducted to improve our understanding of the effects of forest disturbance on litterfall and patterns of nutrient return in three subalpine…”
Get full text

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH by Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.

“…The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype–phenotype correlations have been found but all…”
Get full text

Relationship Dynamics in the Pineapple Supply Chain: Empirical Evidence from the Garo Hills of Meghalaya by Bhagat, Deepak, Dhar, U.R.

“…Though early research in supply chain management focused mostly on transactional exchange, recent studies have shown a shift in focus from transactional to…”
Get full text

In vitro propagation of Saussurea obvallata (DC.) Edgew.: an endangered ethnoreligious medicinal herb of Himalaya by JOSHI, M, DHAR, U

“…This is the first report of a micropropagation protocol for Saussurea obvallata (DC.) Edgew. (Asteraceae), a rare, threatened and near-endemic medicinal herb…”
Get full text

Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers by Dhar, S. U., Cooper, H. P., Wang, T., Parks, B., Staggs, S. A., Hilsenbeck, S., Plon, S. E.

“…The National Comprehensive Cancer Network (NCCN) has published guidelines for hereditary breast and ovarian cancer syndrome (HBOCS) management. Little data…”
Get full text

Enhancing exposure to genetics and genomics through an innovative medical school curriculum by Dhar, Shweta U., Alford, Raye L., Nelson, Elizabeth A., Potocki, Lorraine

“…Purpose: Physicians entering medical practice in the 21st century will require more than a basic understanding of human genetics because of rapid progress in…”
Get full text

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay by Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Liston, Eriskay, Scaglia, Fernando, Rosenfeld, Jill A., Deardorff, Matthew A., Akdemir, Zeynep Coban, Jasien, Joan, Kansagra, Sujay, Freedman, Sharon, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Nelson, Stanley F., Lee, Hane, Vilain, Eric, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Bacino, Carlos A., Balasubramanyam, Ashok, Craigen, William J., Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Lewis, Richard A., Moretti, Paolo M., Orange, Jordan S., Potocki, Lorraine, Rosenfeld, Jill A., Wangler, Michael F., Yamamoto, Shinya, Muzny, Donna M., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Schoch, Kelly, Walley, Nicole M., Beggs, Alan H., Krier, Joel B., Loscalzo, Joseph, Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Splinter, Kimberly, Brown, Donna M., Dorset, Dan C., Jones, Angela L., Lazar, Jozef, Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Dayal, Jyoti G., Loomis, Carson R., Mulvihill, John J., Wise, Anastasia L., Haendel, Melissa, Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Kohler, Jennefer N., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Frost, Kate, Gartner, Valerie, Gordon, Mary “Gracie” G., Groden, Catherine A., Hardee, Isabel, Johnston, Jean M., Latham, Lea, Lau, C. Christopher, Maduro, Valerie V., Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Valivullah, Zaheer M., Wahl, Colleen E., Weech, Alec A., Westerfield, Monte, Bican, Anna, Phillips, John A., Robertson, Amy K., Xiao, Rui, Posey, Jennifer E., Wangler, Michael F., Shashi, Vandana

“…Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided…”
Get full text

An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes by Glinton, Kevin E., Potocki, Lorraine, Dhar, Shweta U.

“…In 2011, we introduced an innovative parallel curriculum at Baylor College of Medicine, formerly called the Genetics Track Curriculum and now called the…”
Get full text

Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children by Chen, L.S., Li, C., Wang, C.H., Amuta, A., Li, M., Huang, T.Y., Dhar, S.U., Talwar, D., Jung, E.

“…In Taiwan, autism spectrum disorders (ASDs) are an emerging public health concern. The ongoing scientific progress for understanding the genetic etiology of…”
Get full text

Diversity, endemism and economic potential of wild edible plants of Indian Himalaya by Samant, S. S., Dhar, U.

“…The rich plant diversity of the Indian Himalaya is utilized by the native communities in various forms as medicine, edible/food, fodder, fuel, timber,…”
Get full text

Cranio‐meta‐diaphyseal dysplasia: 25 year follow‐up and review of literature by Dhar, Shweta U., Taylor, Terry, Trinh, Charles, Sutton, Vernon R.

“…We report here on a 25‐year follow‐up of cranio‐meta‐diaphyseal dysplasia in a 31‐year‐old Caucasian male, who was reported in the literature at the age of 8…”
Get full text