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Journal articles on the topic 'Smith-Magenis syndrom'

Author: Grafiati

Published: 28 June 2021

Last updated: 8 February 2022

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1

Bergmann, C., S. Morlot, and M. Ptok. "Sprachentwicklungsbehinderung beim Smith-Magenis-Syndrom." HNO 55, no. 8 (June 10, 2006): 644–46. http://dx.doi.org/10.1007/s00106-006-1430-7.

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2

Finucane, Brenda M., and Edward R. Jaeger. "Smith-Magenis Syndrome." Ophthalmology 104, no. 5 (May 1997): 732–33. http://dx.doi.org/10.1016/s0161-6420(97)30243-7.

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3

Crumley, Frank E. "SMITH-MAGENIS SYNDROME." Journal of the American Academy of Child & Adolescent Psychiatry 37, no. 11 (November 1998): 1131–32. http://dx.doi.org/10.1097/00004583-199811000-00010.

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4

Elsea, Sarah H., and Santhosh Girirajan. "Smith–Magenis syndrome." European Journal of Human Genetics 16, no. 4 (January 30, 2008): 412–21. http://dx.doi.org/10.1038/sj.ejhg.5202009.

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5

Burke, Shanna L., and Peter Maramaldi. "Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature." Intellectual and Developmental Disabilities 54, no. 4 (August 1, 2016): 273–84. http://dx.doi.org/10.1352/1934-9556-54.4.273.

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Abstract The Social Security Administration (SSA) launched the Compassionate Allowances List (CAL) in 2008. This created a mechanism for expediting review and delivery of disability benefits, while decreasing application backlog. This study hypothesized that developmental disorders, such as Smith-Magenis syndrome, may meet criterion for inclusion. An evaluative review of the literature was undertaken to determine if the expedited review criterion was met. Ten databases were searched and articles meeting pre-defined criteria were coded according to the SSA definition of disability to determine if severity indices screen in or screen out certain severity levels or exclude Smith-Magenis syndrome entirely in relation to the CAL program. It was strongly recommended that Smith-Magenis syndrome receive consideration for inclusion in the CAL.

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6

Lacombe, D., A. Moncla, P. Malzac, MG Mattei, and J. Battin. "Syndrome de Smith-Magenis." Archives de Pédiatrie 4, no. 5 (May 1997): 438–42. http://dx.doi.org/10.1016/s0929-693x(97)86671-7.

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7

Talavera Vargas-Machuca, Sergio, Ismenia Gamboa Oré, Francia Huamán Dianderas, Ricardo Fujita Alarcón, María Luisa Fajardo Loo, and María Luisa Guevara Gil. "Diagnóstico molecular de síndrome de Smith-Magenis por MLPA (Multiplex Ligation-dependent Probe Amplification)." Horizonte Médico (Lima) 17, no. 3 (June 30, 2017): 73–78. http://dx.doi.org/10.24265/horizmed.2017.v17n3.12.

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8

Cesaityte, Karina, and Danielius Serapinas. "The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences." Genetika 48, no. 3 (2016): 859–66. http://dx.doi.org/10.2298/gensr1603859c.

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Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms.

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9

Nimeri, Nuha. "Smith–magenis syndrome. A unique neonatal presentation among the Arab population." MOJ Clinical & Medical Case Reports 10, no. 6 (2020): 160–63. http://dx.doi.org/10.15406/mojcr.2020.10.00368.

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Smith–Magenis Syndrome (SMS) is a rare multisystem genetic disorder caused by a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome 17p11.2. characterized by the variable intellectual deficit, sleep disturbance, brachycephaly, midface hypoplasia, prognathism, hoarse voice, speech delay with or without hearing loss, psychomotor and growth retardation, cutaneous features, and behaviour problems. Our reported case is a term newborn diagnosed antenatally in the feto-maternal unit to have large multi-cystic dysplastic left kidney and unilateral cerebralventriculomegaly. The genetic disorder was suspected due to symmetric IUGR and dysmorphic features. Chromosomal micro-array confirmed the diagnosis of Smith-Magenis Syndrome.MRI brain confirmed Dandy-Walker spectrum malformation. Ultrasound abdomen showed left multi-cystic dysplastic kidney. Smith-Magenis Syndrome is usually diagnosed in childhood and little is known about its presentation in neonates especially in the Arab population. Our patient presented with Intra-cranial haemorrhage, seizures, thrombocytopenia, feeding difficulty, hypoglycemia and acute kidney injury; which all resolve before discharge.

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10

De Leersnyder, Hélène, and Alain Verloes. "Le syndrome de Smith-Magenis." Devenir 20, no. 3 (2008): 197. http://dx.doi.org/10.3917/dev.083.0197.

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11

Cyranek, Łucja. "Smith–Magenis syndrome – acase study." Aktualności Neurologiczne 18, no. 4 (December 31, 2018): 187–91. http://dx.doi.org/10.15557/an.2018.0027.

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12

Livet, MO, A. Moncla, B. Delobel, MF Croquette, N. Philip, and L. Vallée. "Le syndrome de Smith-Magenis." Archives de Pédiatrie 4, no. 12 (December 1997): 1231–37. http://dx.doi.org/10.1016/s0929-693x(97)82615-2.

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13

Khan, Samira S., and Taniya Pradhan. "Case of Smith-Magenis Syndrome." Journal of Clinical Psychopharmacology 39, no. 5 (2019): 525–27. http://dx.doi.org/10.1097/jcp.0000000000001099.

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14

Gupta, Rekha, Neerja Gupta, Sheela Nampoothiri, Kausik Mandal, Yougal Kishore, Pankaj Sharma, Madhulika Kabra, and Shubha R. Phadke. "Smith-Magenis Syndrome: Face Speaks." Indian Journal of Pediatrics 83, no. 6 (December 17, 2015): 589–93. http://dx.doi.org/10.1007/s12098-015-1940-y.

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15

Millichap, J. Gordon. "Smith-Magenis Syndrome: Self-Hugging Behavior." Pediatric Neurology Briefs 8, no. 2 (February 1, 1994): 9. http://dx.doi.org/10.15844/pedneurbriefs-8-2-1.

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16

Chen, Ronni M., James R. Lupski, Frank Greenberg, and Richard Alan Lewis. "Ophthalmic Manifestations of Smith-Magenis Syndrome." Ophthalmology 103, no. 7 (July 1996): 1084–91. http://dx.doi.org/10.1016/s0161-6420(96)30563-0.

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17

Di Cicco, M., R. Padoan, G. Felisati, D. Dilani, E. Moretti, S. Guerneri, and A. Selicorni. "Otorhinolaringologic manifestation of Smith–Magenis syndrome." International Journal of Pediatric Otorhinolaryngology 59, no. 2 (June 2001): 147–50. http://dx.doi.org/10.1016/s0165-5876(01)00475-x.

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18

Kosaki, Rika, Torayuki Okuyama, Toju Tanaka, Ohsuke Migita, and Kenjiro Kosaki. "Monozygotic twins of Smith–Magenis syndrome." American Journal of Medical Genetics Part A 143A, no. 7 (2007): 768–69. http://dx.doi.org/10.1002/ajmg.a.31647.

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19

Jung, Seong Kwan, Kyu Hee Park, Hae Kyung Shin, So Hee Eun, Baik-Lin Eun, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, and Sook Young Bae. "Two cases of Smith-Magenis syndrome." Korean Journal of Pediatrics 52, no. 6 (2009): 701. http://dx.doi.org/10.3345/kjp.2009.52.6.701.

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20

Brendal, Megan A., Kelly A. King, Christopher K. Zalewski, Brenda M. Finucane, Wendy Introne, Carmen C. Brewer, and Ann C. M. Smith. "Auditory Phenotype of Smith–Magenis Syndrome." Journal of Speech, Language, and Hearing Research 60, no. 4 (April 14, 2017): 1076–87. http://dx.doi.org/10.1044/2016_jslhr-h-16-0024.

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21

Wheeler, Ben, Barry Taylor, Kirsten Simonsen, and David M. Reith. "Melatonin Treatment in Smith Magenis Syndrome." Sleep 28, no. 12 (December 2005): 1609–10. http://dx.doi.org/10.1093/sleep/28.12.1609.

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22

Li, Zheng, Jianxiong Shen, Jinqian Liang, and Lin Sheng. "Congenital Scoliosis in Smith–Magenis Syndrome." Medicine 94, no. 17 (May 2015): e705. http://dx.doi.org/10.1097/md.0000000000000705.

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23

Guérin-Moreau, Morgane, Estelle Colin, Sylvie Nguyen, Joris Andrieux, Hélène de Leersnyder, Dominique Bonneau, and Ludovic Martin. "Dermatologic Features of Smith-Magenis Syndrome." Pediatric Dermatology 32, no. 3 (February 12, 2015): 337–41. http://dx.doi.org/10.1111/pde.12517.

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24

Lozzio, C., T. Ryan, E. Bamberger, E. Holland, and W. Carter. "Smith-Magenis Syndrome Diagnosed at Birth." Genetics in Medicine 2, no. 1 (January 2000): 93. http://dx.doi.org/10.1097/00125817-200001000-00152.

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25

McBride, Gail. "Melatonin disrupts sleep in Smith-Magenis syndrome." Lancet 354, no. 9190 (November 1999): 1618. http://dx.doi.org/10.1016/s0140-6736(05)77105-1.

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26

Udwin, Orlee, Carolyn Webber, and Isobel Horn. "Abilities and attainment in Smith-Magenis syndrome." Developmental Medicine and Child Neurology 43, no. 12 (December 18, 2001): 823. http://dx.doi.org/10.1017/s0012162201001499.

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27

Spilsbury, Jonathan, and Khitish Mohanty. "The orthopaedic manifestations of Smith???Magenis syndrome." Journal of Pediatric Orthopaedics, Part B 12, no. 1 (January 2003): 22–26. http://dx.doi.org/10.1097/00009957-200301000-00004.

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28

Spilsbury, Jonathan, and Khitish Mohanty. "The orthopaedic manifestations of Smith–Magenis syndrome." Journal of Pediatric Orthopaedics B 12, no. 1 (January 2003): 22–26. http://dx.doi.org/10.1097/01202412-200301000-00004.

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29

Akkus, Nejmiye, Betul Kilic, and Pelin Ozyavuz Cubuk. "Smith–Magenis Syndrome: Clues in the Clinic." Journal of Pediatric Genetics 09, no. 04 (January 6, 2020): 279–84. http://dx.doi.org/10.1055/s-0039-1700965.

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AbstractAs a multisystemic congenital mental retardation disorder/anomaly, Smith–Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 (RAI1) gene. In this article, we present three cases, who were diagnosed with SMS with mental retardation and behavioral problems such as self-hugging and sleeping disturbances. During the evaluation of the patients, it has been found that there was a 3.4-Mb deletion in the 17p11.2 chromosome region of these patients. This deletion includes RAI1 that is a critically involved gene in SMS.

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30

Laje, Gonzalo, Rebecca Morse, William Richter, Jonathan Ball, Maryland Pao, and Ann C. M. Smith. "Autism spectrum features in Smith-Magenis syndrome." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 154C, no. 4 (October 27, 2010): 456–62. http://dx.doi.org/10.1002/ajmg.c.30275.

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31

Capra, Valeria, Roberta Biancheri, Giovanni Morana, Pasquale Striano, Francesca Novara, Giovanni Battista Ferrero, Luca Boeri, et al. "Periventricular nodular heterotopia in Smith-Magenis syndrome." American Journal of Medical Genetics Part A 164, no. 12 (September 24, 2014): 3142–47. http://dx.doi.org/10.1002/ajmg.a.36742.

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32

Udwin, Orlee, and Isobel Horn. "Abilities and attainment in Smith-Magenis syndrome." Developmental Medicine & Child Neurology 43, no. 12 (February 13, 2007): 823–28. http://dx.doi.org/10.1111/j.1469-8749.2001.tb00170.x.

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33

Salati, R., G. Marini, A. Degiuli, and L. Dalprà. "Brown's syndrome associated with Smith-Magenis syndrome: Case report." Strabismus 4, no. 3 (January 1996): 139–43. http://dx.doi.org/10.3109/09273979609055049.

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34

Vieira, Gustavo H., Jayson D. Rodriguez, Raquel Boy, Isaias Soares de Paiva, Barbara R. DuPont, Danilo Moretti-Ferreira, and Anand K. Srivastava. "Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome." American Journal of Medical Genetics Part A 155, no. 5 (April 7, 2011): 988–92. http://dx.doi.org/10.1002/ajmg.a.33960.

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35

Thomas, Dafydd G., Suzanne M. Jacques, Leigh Anne Flore, Baruch Feldman, Mark I. Evans, and Faisal Qureshi. "Prenatal Diagnosis of Smith-Magenis Syndrome (del 17p11.2)." Fetal Diagnosis and Therapy 15, no. 6 (2000): 335–37. http://dx.doi.org/10.1159/000021032.

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36

Gropman, Andrea L., Sarah Elsea, Wallace C. Duncan, and Ann CM Smith. "New developments in Smith-Magenis syndrome (del 17p11.2)." Current Opinion in Neurology 20, no. 2 (April 2007): 125–34. http://dx.doi.org/10.1097/wco.0b013e3280895dba.

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37

Barboni, Mirella Telles Salgueiro, Clarissa Bueno, Balázs Vince Nagy, Patrícia Lobo Maia, Kallene Summer Moreira Vidal, Rosana Cardoso Alves, Russel J. Reiter, Fernanda Gaspar do Amaral, José Cipolla-Neto, and Dora Fix Ventura. "Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients." Investigative Opthalmology & Visual Science 59, no. 1 (January 18, 2018): 362. http://dx.doi.org/10.1167/iovs.17-22612.

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38

Shayota, Brian J., and Sarah H. Elsea. "Behavior and sleep disturbance in Smith–Magenis syndrome." Current Opinion in Psychiatry 32, no. 2 (March 2019): 73–78. http://dx.doi.org/10.1097/yco.0000000000000474.

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39

Finucane, Brenda, and Barbara Haas-Givler. "Smith-Magenis Syndrome: Genetic Basis and Clinical Implications." Journal of Mental Health Research in Intellectual Disabilities 2, no. 2 (April 14, 2009): 134–48. http://dx.doi.org/10.1080/19315860802627619.

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40

MarianneJensen, Lisbeth, and Maria Kirchhoff. "Polydactyly in a boy with Smith???Magenis syndrome." Clinical Dysmorphology 14, no. 4 (October 2005): 189–90. http://dx.doi.org/10.1097/00019605-200510000-00004.

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41

Smith, Ann C. M., Elizabeth Dykens, and Frank Greenberg. "Behavioral phenotype of smith-magenis syndrome (del 17p11.2)." American Journal of Medical Genetics 81, no. 2 (March 28, 1998): 179–85. http://dx.doi.org/10.1002/(sici)1096-8628(19980328)81:2<179::aid-ajmg10>3.0.co;2-e.

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42

Tomona, Natalia, Ann C. M. Smith, Jean Pierre Guadagnini, and Thomas C. Hart. "Craniofacial and dental phenotype of Smith–Magenis syndrome." American Journal of Medical Genetics Part A 140A, no. 23 (2006): 2556–61. http://dx.doi.org/10.1002/ajmg.a.31371.

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43

Myers, Scott M., Thomas D. Challman, and Glenn H. Bock. "End-stage renal failure in Smith–Magenis syndrome." American Journal of Medical Genetics Part A 143A, no. 16 (2007): 1922–24. http://dx.doi.org/10.1002/ajmg.a.31830.

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44

Girirajan, S., HT Truong, CL Blanchard, and SH Elsea. "A functional network module for Smith-Magenis syndrome." Clinical Genetics 75, no. 4 (April 2009): 364–74. http://dx.doi.org/10.1111/j.1399-0004.2008.01135.x.

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45

Freeman, Jacob, Frederic Deleyiannis, Timothy J. Bernard, Laura Z. Fenton, Steig Somme, and C. Corbett Wilkinson. "Moyamoya in a Patient with Smith-Magenis Syndrome." Pediatric Neurosurgery 52, no. 3 (2017): 195–204. http://dx.doi.org/10.1159/000459627.

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46

Slager, Rebecca E., Tiffany Lynn Newton, Christopher N. Vlangos, Brenda Finucane, and Sarah H. Elsea. "Mutations in RAI1 associated with Smith–Magenis syndrome." Nature Genetics 33, no. 4 (March 24, 2003): 466–68. http://dx.doi.org/10.1038/ng1126.

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47

Potocki, L. "Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome." Journal of Medical Genetics 37, no. 6 (June 1, 2000): 428–33. http://dx.doi.org/10.1136/jmg.37.6.428.

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48

Elsea, S. H., S. M. Purandare, R. A. Adell, R. C. Juyal, J. G. Davis, B. Finucane, R. E. Magenis, and P. I. Patel. "Definition of the critical interval for Smith-Magenis syndrome." Cytogenetic and Genome Research 79, no. 3-4 (1997): 276–81. http://dx.doi.org/10.1159/000134742.

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49

Osório, Ana, Elena Garayzábal-Heinze, María Lens Villaverde, and Adriana Sampaio. "Neurodevelopmental features of Smith–Magenis syndrome: strengths and weaknesses." International Journal of Developmental Disabilities 59, no. 3 (November 2013): 156–65. http://dx.doi.org/10.1179/2047387712y.0000000011.

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50

Gamba, B. F., G. H. Vieira, D. H. Souza, F. F. Monteiro, J. J. Lorenzini, D. R. Carvalho, and D. Morreti-Ferreira. "Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients." Genetics and Molecular Research 10, no. 4 (2011): 2664–70. http://dx.doi.org/10.4238/2011.october.31.17.

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