Development and Validation of a Measure of Birth-Related PTSD for Fathers and Birth Partners: The City Birth Trauma Scale (Partner Version)
Webb, Rebecca, Smith, Ann M, Ayers, Susan, Wright, Daniel B, Thornton, Alexandra
Published in Frontiers in psychology (03.03.2021)
Published in Frontiers in psychology (03.03.2021)
Get full text
Journal Article
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
Berger, Seth I., Ciccone, Carla, Simon, Karen L., Malicdan, May Christine, Vilboux, Thierry, Billington, Charles, Fischer, Roxanne, Introne, Wendy J., Gropman, Andrea, Blancato, Jan K., Mullikin, James C., Gahl, William A., Huizing, Marjan, Smith, Ann C. M.
Published in Human genetics (01.04.2017)
Published in Human genetics (01.04.2017)
Get full text
Journal Article
Variegation of autism related traits across seven neurogenetic disorders
Lee, Nancy Raitano, Niu, Xin, Zhang, Fengqing, Clasen, Liv S., Kozel, Beth A., Smith, Ann C. M., Wallace, Gregory L., Raznahan, Armin
Published in Translational psychiatry (07.04.2022)
Published in Translational psychiatry (07.04.2022)
Get full text
Journal Article
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion
Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K, Cox, Gerald F, Deshpande, Charu, Introne, Wendy J, Gahl, William A, Smith, Ann C M, Huizing, Marjan
Published in PloS one (08.08.2011)
Published in PloS one (08.08.2011)
Get full text
Journal Article
Investigation and verification of a bioluminescent biosensor for the quantitation of ara-CTP generation: A biomarker for cytosine arabinoside sensitivity in acute myeloid leukaemia
Anderson, Elizabeth, Conway, Myra, Alloush, Habib, O’Malley, Kieran, Ann Smith, M., Martin, Ashley, Ruddock, Mark, Reid, Cherith, Lamont, John, Peter Fitzgerald, S., Graham Smith, J., Mehta, Priyanka, Salisbury, Vyv
Published in Biosensors & bioelectronics (15.02.2014)
Published in Biosensors & bioelectronics (15.02.2014)
Get full text
Journal Article
Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome
Martin, Staci C, Wolters, Pamela L, Smith, Ann C. M
Published in Journal of autism and developmental disorders (01.05.2006)
Published in Journal of autism and developmental disorders (01.05.2006)
Get full text
Journal Article
Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome
Wolters, Pamela L., PhD, Gropman, Andrea L., MD, Martin, Staci C., PhD, Smith, Michaele R., PT, MEd, Hildenbrand, Hanna L., MS, Brewer, Carmen C., PhD, Smith, Ann C.M., MA, DSc (Hon)
Published in Pediatric neurology (01.10.2009)
Published in Pediatric neurology (01.10.2009)
Get full text
Journal Article
Auditory Phenotype of Smith-Magenis Syndrome
Brendal, Megan A, King, Kelly A, Zalewski, Christopher K, Finucane, Brenda M, Introne, Wendy, Brewer, Carmen C, Smith, Ann C. M
Published in Journal of speech, language, and hearing research (01.04.2017)
Published in Journal of speech, language, and hearing research (01.04.2017)
Get full text
Journal Article
Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)
Gropman, Andrea L., Duncan, Wallace C., Smith, Ann C.M.
Published in Pediatric neurology (01.05.2006)
Published in Pediatric neurology (01.05.2006)
Get full text
Journal Article
Etiology and Management of Allergic Eyelid Dermatitis
Chisholm, Smith Ann M, Couch, Steven M, Custer, Philip L
Published in Ophthalmic plastic and reconstructive surgery (01.07.2017)
Published in Ophthalmic plastic and reconstructive surgery (01.07.2017)
Get more information
Journal Article
Visual Outcomes in Presumed Congenital Foveal Toxoplasmosis
Reynolds, Margaret M.M., Chisholm, Smith Ann M., Schroeder, Richard, Lueder, Gregg T.
Published in American journal of ophthalmology (01.06.2020)
Published in American journal of ophthalmology (01.06.2020)
Get full text
Journal Article
Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency: Compound Heterozygosity for Mutations in the GGCX Gene
Li, Qiaoli, Schurgers, Leon J, Smith, Ann C.M, Tsokos, Maria, Uitto, Jouni, Cowen, Edward W
Published in The American journal of pathology (01.02.2009)
Published in The American journal of pathology (01.02.2009)
Get full text
Journal Article
Opposite effects on facial morphology due to gene dosage sensitivity
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
Published in Human genetics (01.09.2014)
Published in Human genetics (01.09.2014)
Get full text
Journal Article
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
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.
Published in Molecular genetics and metabolism (01.11.2014)
Published in Molecular genetics and metabolism (01.11.2014)
Get full text
Journal Article
Discriminating Power of Localized Three-Dimensional Facial Morphology
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
Published in American journal of human genetics (01.12.2005)
Published in American journal of human genetics (01.12.2005)
Get full text
Journal Article
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant
Yeetong, Patra, Vilboux, Thierry, Ciccone, Carla, Boulier, Kristin, Schnur, Rhonda E., Gahl, William A., Huizing, Marjan, Laje, Gonzalo, Smith, Ann C. M.
Published in American journal of medical genetics. Part A (01.09.2016)
Published in American journal of medical genetics. Part A (01.09.2016)
Get full text
Journal Article
Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome
Guardiani, Elizabeth, Zalewski, Christopher, Brewer, Carmen, Merideth, Melissa, Introne, Wendy, Smith, Ann C M, Gordon, Leslie, Gahl, William, Kim, H Jeffrey
Published in The Laryngoscope (01.10.2011)
Published in The Laryngoscope (01.10.2011)
Get more information
Journal Article