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Journal articles on the topic 'Syndrome de Rett – Génétique'

Author: Grafiati

Published: 8 March 2025

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1

Bahi-Buisson, N., and T. Bienvenu. "Syndrome de Rett : aspects génétiques et neuropédiatriques." Revue Neurologique 163, no. 4 (April 2007): 250. http://dx.doi.org/10.1016/s0035-3787(07)90964-9.

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2

Ghorbel, R., A. Rouissi, L. Keskes, and F. Fakhfakh. "Recherche de la cause génétique du syndrome de Rett par l’étude du gène MECP2 chez deux patientes tunisiennes." Annales d'Endocrinologie 81, no. 4 (September 2020): 314. http://dx.doi.org/10.1016/j.ando.2020.07.477.

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3

Ghorbel, R., R. Ghorbel, A. Rouissi, C. Triki, L. Keskes, and F. Fakhfakh. "Étude génétique du syndrome de Rett dans la population tunisienne : identification de trois mutations hotspot dans le gène MECP2." Annales d'Endocrinologie 79, no. 4 (September 2018): 348. http://dx.doi.org/10.1016/j.ando.2018.06.472.

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4

Kharrat, Marwa, Triki Chahnez, Fatma Kamoun, and Fakhfakh Faiza. "Mutations dans le gène FOXG1 chez deux patients atteints du syndrome de Rett congénital : étude génétique et analyse in Silico." Revue Neurologique 178 (April 2022): S47—S48. http://dx.doi.org/10.1016/j.neurol.2022.02.227.

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5

Sitholey, Prabhat, Vivek Agarwal, and Rohit Srivastava. "Rett syndrome." Indian Journal of Psychiatry 47, no. 2 (2005): 116. http://dx.doi.org/10.4103/0019-5545.55959.

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6

Crawford, Doreen. "Rett syndrome." Nursing Children and Young People 30, no. 3 (May 11, 2018): 17. http://dx.doi.org/10.7748/ncyp.30.3.17.s16.

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7

Millichap, J. Gordon. "Rett Syndrome." Pediatric Neurology Briefs 2, no. 7 (July 1, 1988): 50. http://dx.doi.org/10.15844/pedneurbriefs-2-7-3.

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8

Millichap, J. Gordon. "Rett Syndrome." Pediatric Neurology Briefs 3, no. 6 (June 1, 1989): 44. http://dx.doi.org/10.15844/pedneurbriefs-3-6-5.

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9

Temudo, Teresa. "Rett syndrome." Journal of Pediatric Neurology 08, no. 01 (July 30, 2015): 101–3. http://dx.doi.org/10.3233/jpn-2010-0379.

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10

TREVATHAN, EDWIN. "Rett Syndrome." Pediatrics 83, no. 4 (April 1, 1989): 636–37. http://dx.doi.org/10.1542/peds.83.4.636.

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Recent case reports of Rett syndrome should help pediatricians recognize this important syndrome. Since the article by Moeschler et al was submitted for publication, new diagnostic criteria for Rett syndrome have been developed and published by a 41-member Rett syndrome Diagnostic Criteria Work Group representing the Centers for Disease Control and the International Rett Syndrome Association. The new diagnostic criteria, which have gained acceptance by investigators worldwide, differ significantly from the older criteria used by Moeschler et al in that they have been separated into necessary, supportive, and exclusion criteria and do not limit Rett syndrome to females.

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11

Magnus Grung, Rolf. "Rett syndrome." Learning Disability Practice 21, no. 5 (September 25, 2018): 19. http://dx.doi.org/10.7748/ldp.21.5.19.s17.

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12

Millichap, J. Gordon. "Rett Syndrome." Pediatric Neurology Briefs 6, no. 7 (July 1, 1992): 50. http://dx.doi.org/10.15844/pedneurbriefs-6-7-2.

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13

Stewart, Katherine, Deborah Kartin Brady, Terry K. Crowe, and Gay M. Naganuma. "Rett Syndrome:." Physical & Occupational Therapy In Pediatrics 9, no. 3 (January 1989): 35–55. http://dx.doi.org/10.1080/j006v09n03_03.

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14

Clarke, A. "Rett syndrome." Journal of Medical Genetics 33, no. 8 (August 1, 1996): 693–99. http://dx.doi.org/10.1136/jmg.33.8.693.

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15

Seche, Gail, and Sherry Brady. "Rett Syndrome." ICAN: Infant, Child, & Adolescent Nutrition 6, no. 6 (November 26, 2014): 327–28. http://dx.doi.org/10.1177/1941406414560674.

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16

Maria, B. L. "Rett Syndrome." Journal of Child Neurology 20, no. 8 (August 1, 2005): 707. http://dx.doi.org/10.1177/08830738050200081601.

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17

Maria, Bernard L. "Rett Syndrome." Journal of Child Neurology 20, no. 9 (September 2005): 707. http://dx.doi.org/10.1177/08830738050200090101.

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18

&NA;, &NA;. "RETT SYNDROME." Journal of Developmental & Behavioral Pediatrics 7, no. 2 (April 1986): 142. http://dx.doi.org/10.1097/00004703-198604000-00028.

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19

Stewart, Katherine, Deborah Kartin Brady, Terry Crowe, and Gay Naganuma. "Rett Syndrome:." Physical & Occupational Therapy In Pediatrics 9, no. 3 (January 3, 1989): 35–55. http://dx.doi.org/10.1300/j006v09n03_03.

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20

Segawa, Masaya, and Yoshiko Nomura. "Rett syndrome." Current Opinion in Neurology 18, no. 2 (April 2005): 97–104. http://dx.doi.org/10.1097/01.wco.0000162848.99154.9a.

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21

Hoffman, E. P., N. Sirianni, J. L. Pereira, R. F. Pillotto, and N. Sakkubai. "Rett Syndrome." Neurology 51, no. 1 (July 1, 1998): 310. http://dx.doi.org/10.1212/wnl.51.1.310-a.

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22

Belichenko, Pavel V., Anders Oldfors, Bengt Hagberg, and Annica Dahlström. "Rett syndrome." NeuroReport 5, no. 12 (July 1994): 1509–13. http://dx.doi.org/10.1097/00001756-199407000-00025.

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23

Dearlove, Oliver R., and Robert WM Walker. "Rett syndrome." Acta Paediatrica 85, no. 6 (June 1996): 761. http://dx.doi.org/10.1111/j.1651-2227.1996.tb14146.x.

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24

Neubauer, Bernd. "Rett Syndrome." Neuropediatrics 49, no. 02 (December 13, 2017): 161–62. http://dx.doi.org/10.1055/s-0037-1609054.

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25

Percy, Alan K. "Rett syndrome." Neurologic Clinics 20, no. 4 (November 2002): 1125–41. http://dx.doi.org/10.1016/s0733-8619(02)00022-1.

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26

Tsai, Luke Y. "Rett Syndrome." Child and Adolescent Psychiatric Clinics of North America 3, no. 1 (January 1994): 105–18. http://dx.doi.org/10.1016/s1056-4993(18)30518-2.

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27

Ben Zeev Ghidoni, Bruria. "Rett Syndrome." Child and Adolescent Psychiatric Clinics of North America 16, no. 3 (July 2007): 723–43. http://dx.doi.org/10.1016/j.chc.2007.03.004.

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28

Ghofrani, M., and T. Mahmoodian. "Rett syndrome." Indian Journal of Pediatrics 67, no. 7 (July 2000): 539–40. http://dx.doi.org/10.1007/bf02760490.

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29

Naidu, Sakku Bai. "Rett syndrome." Indian Journal of Pediatrics 64, no. 5 (September 1997): 651–59. http://dx.doi.org/10.1007/bf02726119.

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30

Robinson, Richard. "RETT SYNDROME." Neurology Today 4, no. 7 (July 2004): 39. http://dx.doi.org/10.1097/00132985-200407000-00009.

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31

Braddock, Stephen R., Barbara A. Braddock, and John M. Graham. "Rett Syndrome." Clinical Pediatrics 32, no. 10 (October 1993): 613–26. http://dx.doi.org/10.1177/000992289303201011.

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32

Percy, Alan K. "Rett syndrome." Current Opinion in Neurology 8, no. 2 (April 1995): 156. http://dx.doi.org/10.1097/00019052-199504000-00013.

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33

Smeets, E. E. J., K. Pelc, and B. Dan. "Rett Syndrome." Molecular Syndromology 2, no. 3-5 (2011): 113–27. http://dx.doi.org/10.1159/000337637.

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34

Percy, Alan K. "Rett Syndrome." Archives of Neurology 68, no. 8 (August 1, 2011): 985. http://dx.doi.org/10.1001/archneurol.2011.149.

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35

Iyama, Christina M. "Rett Syndrome." Advances in Pediatrics 40, no. 1 (1993): 217–45. http://dx.doi.org/10.1016/s0065-3101(24)00013-6.

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36

Al-Mateen, Majeed. "Rett Syndrome." American Journal of Diseases of Children 140, no. 8 (August 1, 1986): 761. http://dx.doi.org/10.1001/archpedi.1986.02140220043029.

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37

Crunkhorn, Sarah. "Reversing Rett syndrome." Nature Reviews Drug Discovery 18, no. 10 (August 14, 2019): 748. http://dx.doi.org/10.1038/d41573-019-00143-3.

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38

HOLM, VANJA A. "Rett??s Syndrome." Journal of Developmental & Behavioral Pediatrics 6, no. 1 (February 1985): 32???36. http://dx.doi.org/10.1097/00004703-198502000-00007.

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39

Ali, Asad. "THE RETT SYNDROME." Pediatric Annals 16, no. 3 (March 1, 1987): 264. http://dx.doi.org/10.3928/0090-4481-19870301-11.

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40

Neubauer, Bernd. "Erratum: Rett Syndrome." Neuropediatrics 49, no. 02 (February 26, 2018): e1-e1. http://dx.doi.org/10.1055/s-0038-1636996.

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41

Christodoulou, John. "Understanding Rett syndrome." Trends in Molecular Medicine 8, no. 8 (August 2002): 406–7. http://dx.doi.org/10.1016/s1471-4914(02)02299-2.

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42

Crunkhorn, Sarah. "Reversing Rett syndrome." Nature Reviews Drug Discovery 16, no. 10 (September 22, 2017): 680. http://dx.doi.org/10.1038/nrd.2017.181.

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43

BERGMAN, IRA. "The Rett Syndrome." Journal of Neuropathology and Experimental Neurology 46, no. 4 (July 1987): 508. http://dx.doi.org/10.1097/00005072-198707000-00011.

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44

Holt, Mary C., John M. Opitz, and James F. Reynolds. "Rett syndrome bibliography." American Journal of Medical Genetics 25, S1 (1986): 39–46. http://dx.doi.org/10.1002/ajmg.1320250505.

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45

Zoghbi, Huda Y. "Introduction: Rett syndrome." Mental Retardation and Developmental Disabilities Research Reviews 8, no. 2 (2002): 59–60. http://dx.doi.org/10.1002/mrdd.10028.

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46

Fyfe, Susan, Angela Cream, Nick de Klerk, John Christodoulou, and Helen Leonard. "InterRett and RettBASE: International Rett Syndrome Association Databases for Rett Syndrome." Journal of Child Neurology 18, no. 10 (October 2003): 709–13. http://dx.doi.org/10.1177/08830738030180100301.

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47

Lotan, Meir, Jenny Downs, Michelle Stahlhut, and Alberto Romano. "Evaluation Tools Developed for Rett Syndrome." Diagnostics 13, no. 10 (May 11, 2023): 1708. http://dx.doi.org/10.3390/diagnostics13101708.

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Abstract:

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. This opinion paper aims to present up-to date evaluation tools which have specifically been adapted for individuals with RTT often used by the authors in their clinical and research practice and to provide the reader with essential considerations and suggestions regarding their use. Due to the rarity of Rett syndrome, we found it important to present these scales in order to improve and professionalize their clinical work. The current article will review the following evaluation tools: (a) the Rett Assessment Rating Scale; (b) the Rett Syndrome Gross Motor Scale; (c) the Rett Syndrome Functional Scale; (d) the Functional Mobility Scale—Rett Syndrome; (e) the Two-Minute Walking Test modified for Rett syndrome; (f) the Rett Syndrome Hand Function Scale; (g) the StepWatch Activity Monitor; (h) the activPALTM; (i) the Modified Bouchard Activity Record; (j) the Rett Syndrome Behavioral Questionnaire; and (k) the Rett Syndrome Fear of Movement Scale. The authors recommend that service providers consider evaluation tools validated for RTT for evaluation and monitoring to guide their clinical recommendations and management. In this article, the authors suggest factors that should be considered when using these evaluation tools to assist in interpreting scores.

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48

Tisha, J., P. Lahiry, R. L. Pollex, and Robert A. Hegele. "Génétique du syndrome métabolique." Bio tribune magazine 30, no. 1 (March 2009): 25–32. http://dx.doi.org/10.1007/s11834-009-0110-9.

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49

Millichap, J. Gordon. "Rett Syndrome Female Phenotypes." Pediatric Neurology Briefs 17, no. 9 (September 1, 2003): 71. http://dx.doi.org/10.15844/pedneurbriefs-17-9-6.

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50

Millichap, J. Gordon. "Rett Syndrome; Diagnostic Criteria." Pediatric Neurology Briefs 2, no. 4 (April 1, 1988): 29. http://dx.doi.org/10.15844/pedneurbriefs-2-4-8.

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