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An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association
Solomon, Benjamin D., Baker, Linda A., Bear, Kelly A., Cunningham, Bridget K., Giampietro, Philip F., Hadigan, Colleen, Hadley, Donald W., Harrison, Steven, Levitt, Marc A., Niforatos, Nickie, Paul, Scott M., Raggio, Cathleen, Reutter, Heiko, Warren-Mora, Nicole
Published in The Journal of pediatrics (01.03.2014)
Published in The Journal of pediatrics (01.03.2014)
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Journal Article
The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report
Aversa, John G., De Abreu, Francine Blumental, Yano, Sho, Xi, Liqiang, Hadley, Donald W., Manoli, Irini, Raffeld, Mark, Sadowski, Samira M., Nilubol, Naris
Published in BMC cancer (30.03.2020)
Published in BMC cancer (30.03.2020)
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Journal Article
Muenke syndrome: An international multicenter natural history study
Kruszka, Paul, Addissie, Yonit A., Yarnell, Colin M. P., Hadley, Donald W., Guillen Sacoto, Maria J., Platte, Petra, Paelecke, Yvonne, Collmann, Hartmut, Snow, Nicole, Schweitzer, Tilmann, Boyadjiev, Simeon A., Aravidis, Christos, Hall, Samantha E., Mulliken, John B., Roscioli, Tony, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.04.2016)
Published in American journal of medical genetics. Part A (01.04.2016)
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Journal Article
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly
Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Martinez, Ariel F., Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian
Published in Congenital anomalies (01.01.2018)
Published in Congenital anomalies (01.01.2018)
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Journal Article
Executive Function and Adaptive Behavior in Muenke Syndrome
Yarnell, Colin M.P., Addissie, Yonit A., Hadley, Donald W., Guillen Sacoto, Maria J., Agochukwu, Nneamaka B., Hart, Rachel A., Wiggs, Edythe A., Platte, Petra, Paelecke, Yvonne, Collmann, Hartmut, Schweitzer, Tilmann, Kruszka, Paul, Muenke, Maximilian
Published in The Journal of pediatrics (01.08.2015)
Published in The Journal of pediatrics (01.08.2015)
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Journal Article
Colon Cancer Screening Practices After Genetic Counseling and Testing for Hereditary Nonpolyposis Colorectal Cancer
Hadley, Donald W., Jenkins, Jean F., Dimond, Eileen, de Carvalho, Maria, Kirsch, Ilan, Palmer, Christina G.S.
Published in Journal of clinical oncology (01.01.2004)
Published in Journal of clinical oncology (01.01.2004)
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Journal Article
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
Wagner, Kathryn R., Hamed, Sherifa, Hadley, Donald W., Gropman, Andrea L., Burstein, Aaron H., Escolar, Diana M., Hoffman, Eric P., Fischbeck, Kenneth H.
Published in Annals of neurology (01.06.2001)
Published in Annals of neurology (01.06.2001)
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Journal Article
Willingness of Mexican-American Adults to Share Family Health History with Healthcare Providers
Koehly, Laura M., Ashida, Sato, Goergen, Andrea F., Skapinsky, Kaley F., Hadley, Donald W., Wilkinson, Anna V.
Published in American journal of preventive medicine (01.06.2011)
Published in American journal of preventive medicine (01.06.2011)
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Journal Article
Perceptions of Cancer Risks and Predictors of Colon and Endometrial Cancer Screening in Women Undergoing Genetic Testing for Lynch Syndrome
Hadley, Donald W., Jenkins, Jean F., Steinberg, Seth M., Liewehr, David, Moller, Stephanie, Martin, Jean C., Calzone, Kathleen A., Soballe, Peter W., Kirsch, Ilan R.
Published in Journal of clinical oncology (20.02.2008)
Published in Journal of clinical oncology (20.02.2008)
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Journal Article
Recommendations for the Care of Individuals With an Inherited Predisposition to Lynch Syndrome: A Systematic Review
Lindor, Noralane M, Petersen, Gloria M, Hadley, Donald W, Kinney, Anita Y, Miesfeldt, Susan, Lu, Karen H, Lynch, Patrick, Burke, Wylie, Press, Nancy
Published in JAMA : the journal of the American Medical Association (27.09.2006)
Published in JAMA : the journal of the American Medical Association (27.09.2006)
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Journal Article
An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease
Daykin, Emily C., Poffenberger, Chelsie N., Do, Jenny, Ryan, Emory, Tayebi, Nahid, Sidransky, Ellen, Lopez, Grisel, Hadley, Donald W.
Published in Journal of genetic counseling (01.06.2023)
Published in Journal of genetic counseling (01.06.2023)
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Journal Article
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Bear, Kelly A, Solomon, Benjamin D, Antonini, Sonir, Arnhold, Ivo J P, França, Marcela M, Gerkes, Erica H, Grange, Dorothy K, Hadley, Donald W, Jääskeläinen, Jarmo, Paulo, Sabrina S, Rump, Patrick, Stratakis, Constantine A, Thompson, Elizabeth M, Willis, Mary, Winder, Thomas L, Jorge, Alexander A L, Roessler, Erich, Muenke, Maximilian
Published in Journal of medical genetics (01.06.2014)
Published in Journal of medical genetics (01.06.2014)
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Journal Article
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease
Burke, Elizabeth A., Reichard, Kyle E., Wolfe, Lynne A., Brooks, Brian P., DiGiovanna, John J., Hadley, Donald W., Lehky, Tanya J., Gropman, Andrea L., Tifft, Cynthia J., Gahl, William A., Toro, Camilo, Adams, David
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics
Weiss, Karin, Kruszka, Paul, Guillen Sacoto, Maria J., Addissie, Yonit A., Hadley, Donald W., Hadsall, Casey K., Stokes, Bethany, Hu, Ping, Roessler, Erich, Solomon, Beth, Wiggs, Edythe, Thurm, Audrey, Hufnagel, Robert B., Zein, Wadih M., Hahn, Jin S., Stashinko, Elaine, Levey, Eric, Baldwin, Debbie, Clegg, Nancy J., Delgado, Mauricio R., Muenke, Maximilian
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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Journal Article
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Solomon, Benjamin D, Bear, Kelly A, Wyllie, Adrian, Keaton, Amelia A, Dubourg, Christele, David, Veronique, Mercier, Sandra, Odent, Sylvie, Hehr, Ute, Paulussen, Aimee, Clegg, Nancy J, Delgado, Mauricio R, Bale, Sherri J, Lacbawan, Felicitas, Ardinger, Holly H, Aylsworth, Arthur S, Bhengu, Ntombenhle Louisa, Braddock, Stephen, Brookhyser, Karen, Burton, Barbara, Gaspar, Harald, Grix, Art, Horovitz, Dafne, Kanetzke, Erin, Kayserili, Hulya, Lev, Dorit, Nikkel, Sarah M, Norton, Mary, Roberts, Richard, Saal, Howard, Schaefer, G B, Schneider, Adele, Smith, Erika K, Sowry, Ellen, Spence, M Anne, Shalev, Stavit A, Steiner, Carlos E, Thompson, Elizabeth M, Winder, Thomas L, Balog, Joan Z, Hadley, Donald W, Zhou, Nan, Pineda-Alvarez, Daniel E, Roessler, Erich, Muenke, Maximilian
Published in Journal of medical genetics (01.07.2012)
Published in Journal of medical genetics (01.07.2012)
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Journal Article