Search Results - "Smith, Ann M."

Development and Validation of a Measure of Birth-Related PTSD for Fathers and Birth Partners: The City Birth Trauma Scale (Partner Version) by Webb, Rebecca, Smith, Ann M, Ayers, Susan, Wright, Daniel B, Thornton, Alexandra

“…Research suggests that some fathers and birth partners can experience post-traumatic stress disorder (PTSD) after witnessing a traumatic birth. Birth-related…”
Get full text

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants by 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.

“…Smith–Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results…”
Get full text

Variegation of autism related traits across seven neurogenetic disorders by Lee, Nancy Raitano, Niu, Xin, Zhang, Fengqing, Clasen, Liv S., Kozel, Beth A., Smith, Ann C. M., Wallace, Gregory L., Raznahan, Armin

“…Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which…”
Get full text

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion by Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K, Cox, Gerald F, Deshpande, Charu, Introne, Wendy J, Gahl, William A, Smith, Ann C M, Huizing, Marjan

“…Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congenital anomalies. The syndrome is primarily ascribed to a ∼3.7…”
Get full text

Investigation and verification of a bioluminescent biosensor for the quantitation of ara-CTP generation: A biomarker for cytosine arabinoside sensitivity in acute myeloid leukaemia by 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

“…A novel whole cell bacterial biosensor, which emits light in response to the active metabolite of cytosine arabinoside (ara-C, cytarabine), ara-CTP, has been…”
Get full text

Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome by Martin, Staci C, Wolters, Pamela L, Smith, Ann C. M

“…Children with Smith-Magenis Syndrome (SMS) exhibit deficits in adaptive behavior but systematic studies using objective measures are lacking. This descriptive…”
Get full text

Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome by 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)

“…Systematic data regarding early neurodevelopmental functioning in Smith-Magenis syndrome are limited. Eleven children with Smith-Magenis syndrome less than 3…”
Get full text

Regarding Statement from FDA Commissioner on New FDA Actions to Keep Consumers Safe from the Harmful Effects of Sun Exposure, and Ensure the Long-Term Safety and Benefits of Sunscreens by Smith, Ann M

Get full text

Auditory Phenotype of Smith-Magenis Syndrome by Brendal, Megan A, King, Kelly A, Zalewski, Christopher K, Finucane, Brenda M, Introne, Wendy, Brewer, Carmen C, Smith, Ann C. M

“…Purpose: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including…”
Get more information

Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2) by Gropman, Andrea L., Duncan, Wallace C., Smith, Ann C.M.

“…The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozygous…”
Get full text

Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia by Chisholm, Smith Ann M, Costakos, Deborah M, Harris, Gerald J

“…Timing of surgery in children with congenital ptosis is a critical component of care, and anisometropia is frequently cited as an indication for early…”
Get full text

Etiology and Management of Allergic Eyelid Dermatitis by Chisholm, Smith Ann M, Couch, Steven M, Custer, Philip L

“…Allergic dermatitis is a common but often misdiagnosed condition that can present with a variety of findings including inflammation, eyelid malposition, and…”
Get full text

Visual Outcomes in Presumed Congenital Foveal Toxoplasmosis by Reynolds, Margaret M.M., Chisholm, Smith Ann M., Schroeder, Richard, Lueder, Gregg T.

“…Congenital macular lesions attributed to toxoplasmosis may limit potential visual acuity. The appearance and location of these scars may cause physicians to…”
Get full text

Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency: Compound Heterozygosity for Mutations in the GGCX Gene by Li, Qiaoli, Schurgers, Leon J, Smith, Ann C.M, Tsokos, Maria, Uitto, Jouni, Cowen, Edward W

“…Pseudoxanthoma elasticum (PXE) is a multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin,…”
Get full text

Opposite effects on facial morphology due to gene dosage sensitivity by 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

“…Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size,…”
Get full text

Characterisation of cultivars of Jamaican ginger (Zingiber officinale Roscoe) by HPTLC and HPLC by Salmon, Colleen N.A., Bailey-Shaw, Yvonne A., Hibbert, Sheridan, Green, Cheryl, Smith, Ann M., Williams, Lawrence A.D.

“…► A novel HPTLC method for the authentication of Jamaican ginger is presented. ► Application to the comparison of ginger cultivars, stages of maturation and…”
Get full text

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity by 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.

“…The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic…”
Get full text

Discriminating Power of Localized Three-Dimensional Facial Morphology by 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

“…Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination…”
Get full text

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant by Yeetong, Patra, Vilboux, Thierry, Ciccone, Carla, Boulier, Kristin, Schnur, Rhonda E., Gahl, William A., Huizing, Marjan, Laje, Gonzalo, Smith, Ann C. M.

“…We report a 25‐year‐old female confirmed to have Smith–Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past history is significant for developmental…”
Get full text

Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome by Guardiani, Elizabeth, Zalewski, Christopher, Brewer, Carmen, Merideth, Melissa, Introne, Wendy, Smith, Ann C. M., Gordon, Leslie, Gahl, William, Kim, H. Jeffrey

“…Objectives/Hypothesis: To define the audiologic and otologic phenotype of Hutchinson‐Gilford progeria syndrome (HGPS). Study Design: Prospective case series…”
Get full text