Search Results - "Aylsworth, Arthur S."

Classification, Epidemiology, and Genetics of Orofacial Clefts by Watkins, Stephanie E., PhD, MSPH, MSPT, Meyer, Robert E., PhD, MPH, Strauss, Ronald P., DMD, PhD, Aylsworth, Arthur S., MD

“…Orofacial clefts (OFCs) include a broad range of facial conditions that differ in cause and disease burden. In the published literature, there is substantial…”
Get full text

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A by CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab

“…Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development, with distinct neuropathological and neuroimaging patterns…”
Get full text

Maternal exposure to criteria air pollutants and congenital heart defects in offspring: results from the national birth defects prevention study by Stingone, Jeanette A, Luben, Thomas J, Daniels, Julie L, Fuentes, Montserrat, Richardson, David B, Aylsworth, Arthur S, Herring, Amy H, Anderka, Marlene, Botto, Lorenzo, Correa, Adolfo, Gilboa, Suzanne M, Langlois, Peter H, Mosley, Bridget, Shaw, Gary M, Siffel, Csaba, Olshan, Andrew F

“…Epidemiologic literature suggests that exposure to air pollutants is associated with fetal development. We investigated maternal exposures to air pollutants…”
Get full text

genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies by Korbel, Jan O, Tirosh-Wagner, Tal, Urban, Alexander Eckehart, Chen, Xiao-Ning, Kasowski, Maya, Dai, Li, Grubert, Fabian, Erdman, Chandra, Gao, Michael C, Lange, Ken, Sobel, Eric M, Barlow, Gillian M, Aylsworth, Arthur S, Carpenter, Nancy J, Clark, Robin Dawn, Cohen, Monika Y, Doran, Eric, Falik-Zaccai, Tzipora, Lewin, Susan O, Lott, Ira T, McGillivray, Barbara C, Moeschler, John B, Pettenati, Mark J, Pueschel, Siegfried M, Rao, Kathleen W, Shaffer, Lisa G, Shohat, Mordechai, Van Riper, Alexander J, Warburton, Dorothy, Weissman, Sherman, Gerstein, Mark B, Snyder, Michael, Korenberg, Julie R

“…Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward,…”
Get full text

Maternal Exposure to Nitrogen Dioxide, Intake of Methyl Nutrients, and Congenital Heart Defects in Offspring by Stingone, Jeanette A, Luben, Thomas J, Carmichael, Suzan L, Aylsworth, Arthur S, Botto, Lorenzo D, Correa, Adolfo, Gilboa, Suzanne M, Langlois, Peter H, Nembhard, Wendy N, Richmond-Bryant, Jennifer, Shaw, Gary M, Olshan, Andrew F

“…Nutrients that regulate methylation processes may modify susceptibility to the effects of air pollutants. Data from the National Birth Defects Prevention Study…”
Get full text

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome by Rosenfeld, Jill A, Ballif, Blake C, Lucas, Ann, Spence, Edward J, Powell, Cynthia, Aylsworth, Arthur S, Torchia, Beth A, Shaffer, Lisa G

“…Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental…”
Get full text

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A by Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S

“…The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has…”
Get full text

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome by Gallione, Carol, Aylsworth, Arthur S., Beis, Jill, Berk, Terri, Bernhardt, Barbara, Clark, Robin D., Clericuzio, Carol, Danesino, Cesare, Drautz, Joanne, Fahl, Jeffrey, Fan, Zheng, Faughnan, Marie E., Ganguly, Arupa, Garvie, John, Henderson, Katharine, Kini, Usha, Leedom, Tracey, Ludman, Mark, Lux, Andreas, Maisenbacher, Melissa, Mazzucco, Sara, Olivieri, Carla, Ploos van Amstel, Johannes K., Prigoda-Lee, Nadia, Pyeritz, Reed E., Reardon, Willie, Vandezande, Kirk, Waldman, J. Deane, White Jr, Robert I., Williams, Charles A., Marchuk, Douglas A.

“…Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and…”
Get full text

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome by Shaffer, Lisa G, Theisen, Aaron, Bejjani, Bassem A, Ballif, Blake C, Aylsworth, Arthur S, Lim, Cynthia, McDonald, Marie, Ellison, Jay W, Kostiner, Dana, Saitta, Sulagna, Shaikh, Tamim

“…The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of…”
Get full text

Genetics of hemangiomas, vascular malformations, and primary lymphedema by Blatt, Julie, Powell, Cynthia M, Burkhart, Craig N, Stavas, Joseph, Aylsworth, Arthur S

“…With improved genetic testing and genomic sequencing, abnormalities are increasingly being identified in affected or germline tissues in DNA of patients with…”
Get full text

Aortopathy in the 7q11.23 microduplication syndrome by Parrott, Ashley, James, Jeanne, Goldenberg, Paula, Hinton, Robert B., Miller, Erin, Shikany, Amy, Aylsworth, Arthur S., Kaiser-Rogers, Kathleen, Ferns, Sunita J., Lalani, Seema R., Ware, Stephanie M.

“…The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams‐Beuren syndrome deletion region, is a genomic disorder with an…”
Get full text

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects by Chong, Jessica X., Childers, Matthew Carter, Marvin, Colby T., Marcello, Anthony J., Gonorazky, Hernan, Hazrati, Lili-Naz, Dowling, James J., Al Amrani, Fatema, Alanay, Yasemin, Nieto, Yolanda, Gabriel, Miguel Á Marín, Aylsworth, Arthur S., Buckingham, Kati J., Shively, Kathryn M., Sommers, Olivia, Anderson, Kailyn, Regnier, Michael, Bamshad, Michael J.

“…Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7,…”
Get full text

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes by ROSENFELD, Jill A, TRAYLOR, Ryan N, BRADLEY SCHAEFER, G, MCPHERSON, Elizabeth W, BALLIF, Blake C, KLOPOCKI, Eva, MUNDLOS, Stefan, SHAFFER, Lisa G, AYLSWORTH, Arthur S

Get full text

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases by Rosenfeld, Jill A., Amrom, Dina, Andermann, Eva, Andermann, Frederick, Veilleux, Martin, Curry, Cynthia, Fisher, Jamie, Deputy, Stephen, Aylsworth, Arthur S., Powell, Cynthia M., Manickam, Kandamurugu, Heese, Bryce, Maisenbacher, Melissa, Stevens, Cathy, Ellison, Jay W., Upton, Sheila, Moeschler, John, Torres-Martinez, Wilfredo, Stevens, Abby, Marion, Robert, Pereira, Elaine Maria, Babcock, Melanie, Morrow, Bernice, Sahoo, Trilochan, Lamb, Allen N., Ballif, Blake C., Paciorkowski, Alex R., Shaffer, Lisa G.

“…Interstitial deletions of 6q are associated with variable phenotypes, including growth retardation, dysmorphic features, upper limb malformations, and…”
Get full text

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study by Meyer, Robert E., Liu, Gang, Gilboa, Suzanne M., Ethen, Mary K., Aylsworth, Arthur S., Powell, Cynthia M., Flood, Timothy J., Mai, Cara T., Wang, Ying, Canfield, Mark A.

“…Trisomy 13 (T13) and trisomy 18 (T18) are among the most prevalent autosomal trisomies. Both are associated with a very high risk of mortality. Numerous…”
Get full text

Diagnosis of Human Congenital Cytomegalovirus Infection by Amplification of Viral DNA from Dried Blood Spots on Perinatal Cards by Scanga, Lori, Chaing, Shu, Powell, Cynthia, Aylsworth, Arthur S., Harrell, Lizzie J., Henshaw, Nancy G., Civalier, Chris J., Thorne, Leigh B., Weck, Karen, Booker, Jessica, Gulley, Margaret L.

“…Congenital human cytomegalovirus (HCMV) infection affects 1% of children and is the most common infectious cause of sensorineural hearing loss. Due to the…”
Get full text

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening by Milko, Laura V., O'Daniel, Julianne M., DeCristo, Daniela M., Crowley, Stephanie B., Foreman, Ann Katherine M., Wallace, Kathleen E., Mollison, Lonna F., Strande, Natasha T., Girnary, Zahra S., Boshe, Lacey J., Aylsworth, Arthur S., Gucsavas-Calikoglu, Muge, Frazier, Dianne M., Vora, Neeta L., Roche, Myra I., Powell, Bradford C., Powell, Cynthia M., Berg, Jonathan S.

“…To assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and…”
Get full text

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 by McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

“…Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the…”
Get full text

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia by Bellus, Gary A, McIntosh, Iain, Smith, E. Anne, Aylsworth, Arthur S, Kaitila, Ilkka, Horton, William A, Greenhaw, Giselle A, Hecht, Jacqueline T, Francomano, Clair A

“…Hypochondroplasia (MIM 146000) is an autosomal dominant skeletal dysplasia with skeletal features similar to but milder than those seen in achondroplasia…”
Get full text

Birth defects and neonatal morbidity caused by teratogen exposure after the embryonic period by Scheuerle, Angela E., Aylsworth, Arthur S.

“…Background Pharmaceutical pregnancy exposure registries seek to evaluate temporal associations between drug exposures and adverse outcomes, particularly…”
Get full text