Pharmacological Treatment of Disruptive Behavior in Smith-Magenis Syndrome

Por Laje, Gonzalo, Bernert, Rebecca, Morse, Rebecca, Pao, Maryland, Smith, Ann C.M.
Publicado em 2010

Diagnostic Utility of Daytime Salivary Melatonin Levels in Smith-Magenis Syndrome

Por Chik, Constance L., Rollag, Mark D., Duncan, Wallace C., Smith, Ann C.M.
Publicado em 2010

Autism Spectrum Features in Smith-Magenis Syndrome

Por Laje, Gonzalo, Morse, Rebecca, Richter, William, Ball, Jonathan, Pao, Maryland, Smith, Ann C.M.
Publicado em 2010

Immune Complex-Mediated Autoimmunity in a Patient With Smith-Magenis Syndrome (del 17p11.2)

Por Yang, Jianying, Chandrasekharappa, Settara C., Vilboux, Thierry, Smith, Ann C. M., Peterson, Erik J.
Publicado em 2014

Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency : Compound Heterozygosity for Mutations in the GGCX Gene

Por Li, Qiaoli, Schurgers, Leon J., Smith, Ann C.M., Tsokos, Maria, Uitto, Jouni, Cowen, Edward W.
Publicado em 2009

Otologic and Audiologic Manifestations of Hutchinson-Gilford Progeria Syndrome

Por Guardiani, Elizabeth, Zalewski, Christopher, Brewer, Carmen, Merideth, Melissa, Introne, Wendy, Smith, Ann C.M, Gordon, Leslie, Gahl, William, Kim, H. Jeffrey
Publicado em 2011

Neurodevelopment of Children Under Three Years with Smith-Magenis Syndrome

Por Wolters, Pamela L., Gropman, Andrea L., Martin, Staci C., Smith, Michaele R., Hildenbrand, Hanna L., Brewer, Carmen C., Smith, Ann C.M.
Publicado em 2009

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Por Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K., Cox, Gerald F., Deshpande, Charu, Introne, Wendy J., Gahl, William A., Smith, Ann C. M., Huizing, Marjan
Publicado em 2011

Review of Disrupted Sleep Patterns in Smith-Magenis Syndrome and Normal Melatonin Secretion in a Patient with an Atypical Interstitial 17p11.2 Deletion

Por Boudreau, Eilis A., Johnson, Kyle P., Jackman, Angela R., Blancato, Jan, Huizing, Marjan, Bendavid, Claude, Jones, MaryPat, Chandrasekharappa, Settara C., Lewy, Alfred J., Smith, Ann C. M., Magenis, R. Ellen
Publicado em 2009

Opposite effects on facial morphology due to gene dosage sensitivity

Por Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul
Publicado em 2014

Discriminating Power of Localized Three-Dimensional Facial Morphology

Por Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Ann C. M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul, Tassabehji, May
Publicado em 2005

Three Rare Diseases in One Sib Pair: RAI1, PCK1, GRIN2B Mutations Associated with Smith-Magenis Syndrome, Cytosolic PEPCK Deficiency and NMDA Receptor Glutamate Insensitivity

Por Adams, David R, Yuan, Hongjie, Holyoak, Todd, Arajs, Katrina H., Hakimi, Parvin, Markello, Thomas C, Wolfe, Lynne A, Vilboux, Thierry, Burton, Barbara K, Fajardo, Karin Fuentes, Grahame, George, Holloman, Conisha, Sincan, Murat, Smith, Ann C M, Wells, Gordon A, Huang, Yan, Vega, Hugo, Snyder, James P, Golas, Gretchen A, Tifft, Cynthia J, Boerkoel, Cornelius F, Hanson, Richard W, Traynelis, Stephen F, Kerr, Douglas S, Gahl, William A
Publicado no Mol Genet Metab (2014)

Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

Por Merideth, Melissa A., Gordon, Leslie B., Clauss, Sarah, Sachdev, Vandana, Smith, Ann C.M., Perry, Monique B., Brewer, Carmen C., Zalewski, Christopher, Kim, H. Jeffrey, Solomon, Beth, Brooks, Brian P., Gerber, Lynn H., Turner, Maria L., Domingo, Demetrio L., Hart, Thomas C., Graf, Jennifer, Reynolds, James C., Gropman, Andrea, Yanovski, Jack A., Gerhard-Herman, Marie, Collins, Francis S., Nabel, Elizabeth G., Cannon, Richard O., Gahl, William A., Introne, Wendy J.
Publicado em 2008