Congenital Diaphragmatic Hernia and Associated Cardiovascular Malformations: Type, Frequency, and Impact on Management

Por Lin, Angela E., Pober, Barbara R., Adatia, Ian
Publicado em 2007

Male to Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father with Somatic Mosaicism

Por Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A, Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.
Publicado em 2009

Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome

Por Derrington, Taletha Mae, Kotelchuck, Milton, Plummer, Katrina, Cabral, Howard, Lin, Angela E., Belanoff, Candice, Shin, Mikyong, Correa, Adolfo, Grosse, Scott D.
Publicado no Res Dev Disabil (2013)

Analysis of Selected Maternal Exposures and Non-Syndromic Atrioventricular Septal Defects in the National Birth Defects Prevention Study, 1997–2005

Por Patel, Sonali S., Burns, Trudy L., Botto, Lorenzo D., Riehle-Colarusso, Tiffany J., Lin, Angela E., Shaw, Gary M., Romitti, Paul A.
Publicado no Am J Med Genet A (2012)

Laterality Defects in the National Birth Defects Prevention Study (1998–2007): Birth Prevalence and Descriptive Epidemiology

Por Lin, Angela E., Krikov, Sergey, Riehle-Colarusso, Tiffany, Frías, Jaime L., Belmont, John, Anderka, Marlene, Geva, Tal, Getz, Kelly D., Botto, Lorenzo D.
Publicado no Am J Med Genet A (2014)

Thoracic Aortic Disease in Two Patients with Juvenile Polyposis Syndrome and SMAD4 mutations

Por Teekakirikul, Polakit, Milewicz, Dianna M., Miller, David T., Lacro, Ronald V., Regalado, Ellen S., Rosales, Ana Maria, Ryan, Daniel P., Toler, Tomi L., Lin, Angela E.
Publicado em 2012

Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997–2007

Por Kancherla, Vijaya, Romitti, Paul A., Sun, Lixian, Carey, John C., Burns, Trudy L., Siega-Riz, Anna Maria, Druschel, Charlotte M., Lin, Angela E., Olney, Richard S.
Publicado no Eur J Med Genet (2014)

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Por Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.
Publicado em 2008

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Por Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.
Publicado em 2009

Twinning and major birth defects, National Birth Defects Prevention Study, 1997–2007

Por Dawson, April L, Tinker, Sarah C, Jamieson, Denise J, Hobbs, Charlotte A, Berry, R J, Rasmussen, Sonja A, Anderka, Marlene, Keppler-Noreuil, Kim M, Lin, Angela E, Reefhuis, Jennita
Publicado no J Epidemiol Community Health (2016)

Antihypertensive Medication Use During Pregnancy and the Risk of Cardiovascular Malformations

Por Caton, Alissa R., Bell, Erin M., Druschel, Charlotte M., Werler, Martha M., Lin, Angela E., Browne, Marilyn L., McNutt, Louise-Anne, Romitti, Paul A., Mitchell, Allen A., Olney, Richard S., Correa, Adolfo
Publicado no Hypertension (2009)

Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry

Por Prakash, Siddharth K., Bondy, Carolyn A., Maslen, Cheryl L., Silberbach, Michael, Lin, Angela E., Perrone, Laura, Limongelli, Giuseppe, Michelena, Hector I., Bossone, Eduardo, Citro, Rodolfo, Lemaire, Scott A., Body, Simon C., Milewicz, Dianna M.
Publicado no Am J Med Genet A (2016)

Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

Por Lin, Angela E., O’Brien, Barbara, Demmer, Laurie A., Almeda, Kristina K., Blanco, Cynthia L., Glasow, Patrick F., Berul, Charles I., Hamilton, Robert, Innes, A. Micheil, Lauzon, Julie L., Sol-Church, Katia, Gripp, Karen W.
Publicado no Prenat Diagn (2009)

Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management

Por Lin, Angela E., Basson, Craig T., Goldmuntz, Elizabeth, Magoulas, Pilar L., McDermott, Deborah A., McDonald-McGinn, Donna M., McPherson, Elspeth, Morris, Colleen A., Noonan, Jacqueline, Nowak, Catherine, Pierpont, Mary Ella, Pyeritz, Reed E., Rope, Alan F., Zackai, Elaine, Pober, Barbara R.
Publicado em 2008

Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

Por Gripp, Karen W., Hopkins, Elizabeth, Sol-Church, Katia, Stabley, Deborah L., Axelrad, Marni E., Doyle, Daniel, Dobyns, William B., Hudson, Cindy, Johnson, John, Tenconi, Romano, Graham, Gail E., Sousa, Ana Berta, Heller, Raoul, Piccione, Maria, Corsello, Giovanni, Herman, Gail E., Tartaglia, Marco, Lin, Angela E.
Publicado em 2011

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Por Lalani, Seema R., Safiullah, Arsalan M., Fernbach, Susan D., Harutyunyan, Karine G., Thaller, Christina, Peterson, Leif E., McPherson, John D., Gibbs, Richard A., White, Lisa D., Hefner, Margaret, Davenport, Sandra L. H., Graham, John M., Bacino, Carlos A., Glass, Nancy L., Towbin, Jeffrey A., Craigen, William J., Neish, Steven R., Lin, Angela E., Belmont, John W.
Publicado em 2006

Proceedings From the Turner Resource Network Symposium: The Crossroads of Health Care Research and Health Care Delivery

Por Backeljauw, Philippe F., Bondy, Carolyn, Chernausek, Steven D., Cernich, Joseph T., Cole, David A., Fasciano, Laura P., Foodim, Joan, Hawley, Scott, Hong, David S., Knickmeyer, Rebecca C., Kruszka, Paul, Lin, Angela E., Lippe, Barbara M., Lorigan, Gary A., Maslen, Cheryl L., Mauras, Nelly, Page, David C., Pemberton, Victoria L., Prakash, Siddharth K., Quigley, Charmian A., Ranallo, Kelly C., Reiss, Allan L., Sandberg, David E., Scurlock, Cindy, Silberbach, Michael
Publicado no Am J Med Genet A (2015)

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Por Hodge, Jennelle C., Mitchell, Elyse, Pillalamarri, Vamsee, Toler, Tomi L., Bartel, Frank, Kearney, Hutton M., Zou, Ying S., Tan, Wen-Hann, Hanscom, Carrie, Kirmani, Salman, Hanson, Rae R., Skinner, Steven A., Rogers, Curtis, Everman, David B., Boyd, Ellen, Mullegama, Sureni V., Keelean-Fuller, Debra, Powell, Cynthia M., Elsea, Sarah H., Morton, Cynthia C., Gusella, James F., DuPont, Barbara, Chaubey, Alka, Lin, Angela E., Talkowski, Michael E.
Publicado no Mol Psychiatry (2013)

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Por Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H
Publicado em 2014

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Por Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie
Publicado em 2014