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Journal articles on the topic 'Syndrome de Down – génétique'

Author: Grafiati

Published: 4 June 2021

Last updated: 7 February 2022

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1

Ferretti, Emanuela. "Doctor Jérôme Lejeune’s Gaze at the University of Ottawa." University of Ottawa Journal of Medicine 6, no. 1 (May 11, 2016): 58–62. http://dx.doi.org/10.18192/uojm.v6i1.1590.

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From January 29th to February 1st, 2015, a group of University of Ottawa undergraduate students and I hosted an exhibit about the life and research of French physician Dr. Jérôme Lejeune, who in 1959 discovered Trisomy 21, the genetic origin of Down syndrome (DS). Considered the father of modern genetics, Dr. Lejeune believed medicine should serve the patient and not the disease. The exhibit focused on Lejeune’s profound humanity and compassion that accompanied his commitment to scientific truth. It also showed how this great scientist maintained an unshakeable adherence to his faith and conscience despite challenges and adversity. Du 29 janvier au 1er février 2015, un groupe d’étudiants au premier cycle universitaire ont organisé une exposition portant sur la vie et les travaux de recherche du médecin français Dr Jérôme Lejeune, qui en 1959 a découvert la trisomie 21, l’origine génétique du syndrome de Down. Dr Lejeune est considéré comme le père de la génétique moderne. Il croyait que la médecine devait se concentrer sur le patient et non seulement sur sa maladie. L’exposition a mis en valeur l’humanité et la compassion du Dr Lejeune en illustrant comment ce grand scientifique a su maintenir sa foi et ses croyances malgré les défis à relever.

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2

Alao, M. J., G. G. Sagbo, A. Laleye, and B. Ayivi. "Aspects épidémiologiques, Cliniques et Cytogénétiques du Syndrome de Down au Service de Pediatrie et Génétique Médicale du Centre National Hospitalier et Universitaire de Cotonou, Bénin : A Propos de 20 Cas." Clinics in Mother and Child Health 7 (2010): 1–6. http://dx.doi.org/10.4303/cmch/c101787.

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3

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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4

Philip, N. "Génétique moléculaire du syndrome de Williams." Archives de Pédiatrie 8 (May 2001): 353–54. http://dx.doi.org/10.1016/s0929-693x(01)80072-5.

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5

Amato, P., and J. L. Simpson. "Génétique du syndrome des ovaires polykystiques." EMC - Gynécologie 1, no. 1 (January 2006): 1–7. http://dx.doi.org/10.1016/s0246-1064(06)45020-9.

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6

Gaultier, C. "Génétique du syndrome d’apnées du sommeil." Revue des Maladies Respiratoires 23 (June 2006): 109–12. http://dx.doi.org/10.1016/s0761-8425(06)72486-x.

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7

Dodé, C., and J. P. Hardelin. "Génétique du syndrome de Kallmann demorsier." Annales d'Endocrinologie 65, no. 6 (December 2004): 494–95. http://dx.doi.org/10.1016/s0003-4266(04)95963-x.

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8

Perpoint, T., M. H. Girard-Madoux, M. O. Rolland, C. Dolmazon, P. Miranda, and J. Ninet. "Confirmation génétique d'un syndrome d'hyperimmunoglobulinémie D." La Revue de Médecine Interne 22 (June 2001): 126–27. http://dx.doi.org/10.1016/s0248-8663(01)83541-4.

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9

Siffroi, J. P. "Syndrome de klinefelter et conseil génétique." Andrologie 11, no. 1 (March 2001): 9–14. http://dx.doi.org/10.1007/bf03034505.

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10

Saoudi, H., B. Hennart, O. Menard, C. Douillard, and C. Ringot. "Une étude génétique du syndrome d’hyperémèse cannabinoïde." French Journal of Psychiatry 1 (November 2018): S135. http://dx.doi.org/10.1016/s2590-2415(19)30359-9.

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11

Hayes, Adadot, and Mark L. Batshaw. "Down Syndrome." Pediatric Clinics of North America 40, no. 3 (June 1993): 523–35. http://dx.doi.org/10.1016/s0031-3955(16)38548-0.

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12

Desai, Sindoor S. "Down syndrome." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 84, no. 3 (September 1997): 279–85. http://dx.doi.org/10.1016/s1079-2104(97)90343-7.

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13

Prasher, Vee, and Cliff Cunningham. "Down syndrome." Current Opinion in Psychiatry 14, no. 5 (September 2001): 431–36. http://dx.doi.org/10.1097/00001504-200109000-00002.

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14

&NA;. "DOWN SYNDROME." Advances in Neonatal Care 9, no. 1 (February 2009): 31–33. http://dx.doi.org/10.1097/01.anc.0000346093.50981.89.

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15

DAVIES, M. K. "Down syndrome." Heart 86, no. 2 (August 1, 2001): 130. http://dx.doi.org/10.1136/heart.86.2.130.

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16

SMITH, JEAN C., WILLIAM L. COLEMAN, ADRIAN D. SANDLER, and CATHERINE L. GRUS. "DOWN SYNDROME." Journal of Developmental & Behavioral Pediatrics 18, no. 2 (April 1997): 134. http://dx.doi.org/10.1097/00004703-199704000-00021.

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17

Crain, Lucy S. "Down Syndrome." Journal of Developmental & Behavioral Pediatrics 20, no. 4 (August 1999): 297. http://dx.doi.org/10.1097/00004703-199908000-00016.

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18

Duchoslavová, Lenka. "Down syndrome." Kontakt 9, no. 2 (December 21, 2007): 416–21. http://dx.doi.org/10.32725/kont.2007.063.

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19

Takashima, Sachio. "Down syndrome." Current Opinion in Neurology 10, no. 2 (April 1997): 148–52. http://dx.doi.org/10.1097/00019052-199704000-00013.

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20

Van Dyke, Don C., and Cheryl A. Gahagan. "Down Syndrome." Clinical Pediatrics 27, no. 9 (September 1988): 415–18. http://dx.doi.org/10.1177/000992288802700901.

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21

Caputo, Anthony R., Rudolph S. Wagner, David R. Reynolds, Suqin Guo, and Ameet K. Goel. "Down Syndrome." Clinical Pediatrics 28, no. 8 (August 1989): 355–58. http://dx.doi.org/10.1177/000992288902800804.

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22

RIMMERMAN, ARIE. "Down Syndrome." International Journal of Rehabilitation Research 17, no. 3 (September 1994): 278. http://dx.doi.org/10.1097/00004356-199409000-00010.

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23

Capone, George T. "Down Syndrome." Infants & Young Children 17, no. 1 (January 2004): 45–58. http://dx.doi.org/10.1097/00001163-200401000-00007.

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24

&NA;. "DOWN SYNDROME." Plastic and Reconstructive Surgery 82, no. 1 (July 1988): 200. http://dx.doi.org/10.1097/00006534-198807000-00057.

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25

&NA;. "DOWN SYNDROME." Plastic and Reconstructive Surgery 82, no. 1 (July 1988): 200. http://dx.doi.org/10.1097/00006534-198882010-00057.

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26

Bull, Marilyn J. "Down Syndrome." New England Journal of Medicine 382, no. 24 (June 11, 2020): 2344–52. http://dx.doi.org/10.1056/nejmra1706537.

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27

Hobson-Rohrer, W. L., and L. Samson-Fang. "Down Syndrome." Pediatrics in Review 34, no. 12 (December 1, 2013): 573–74. http://dx.doi.org/10.1542/pir.34-12-573.

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28

Amirfeyz, Rouin, Demetris Aspros, and Martin Gargan. "Down syndrome." Current Orthopaedics 20, no. 3 (June 2006): 212–15. http://dx.doi.org/10.1016/j.cuor.2006.01.003.

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29

Baird, PA. "Down syndrome." Biomedicine & Pharmacotherapy 44, no. 1 (January 1990): 62. http://dx.doi.org/10.1016/0753-3322(90)90076-l.

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30

Catalano, Robert A. "Down syndrome." Survey of Ophthalmology 34, no. 5 (March 1990): 385–98. http://dx.doi.org/10.1016/0039-6257(90)90116-d.

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31

Kava, Maina P., Milind S. Tullu, Mamta N. Muranjan, and K. M. Girisha. "Down syndrome:." Archives of Medical Research 35, no. 1 (January 2004): 31–35. http://dx.doi.org/10.1016/j.arcmed.2003.06.005.

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32

Bianca, Sebastiano, and M. Bianca. "Down Syndrome." Archives of Medical Research 36, no. 2 (March 2005): 183. http://dx.doi.org/10.1016/j.arcmed.2004.12.017.

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33

DAVIES, M. K., and A. HOLLMAN. "Down syndrome." Heart 86, no. 2 (August 1, 2001): 130. http://dx.doi.org/10.1136/hrt.86.2.130.

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34

Plancoulaine, S. "Génétique des troubles respiratoires du sommeil (hors syndrome)." Revue d'Orthopédie Dento-Faciale 49, no. 2 (April 2015): 97–108. http://dx.doi.org/10.1051/odf/2015006.

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35

Cochen De Cock, Valérie, and Yves Dauvilliers. "Syndrome des jambes sans repos : une maladie génétique ?" La Presse Médicale 39, no. 5 (May 2010): 579–86. http://dx.doi.org/10.1016/j.lpm.2009.11.015.

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36

El Ansari, Nawal. "Le syndrome de kallmann de morsier aspect génétique." Andrologie 18, no. 2 (June 2008): 127–30. http://dx.doi.org/10.1007/bf03040390.

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37

Sun, Deborah H., and Julius Kerkay. "Correlation of the Down Syndrome Protein with Down Syndrome." Analytical Letters 23, no. 5 (May 1990): 819–31. http://dx.doi.org/10.1080/00032719008052484.

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38

Makwana, Mohan, Vishnoi R.K, Jai Prakash Soni, Kapil Jetha, Suresh Kumar Verma, Pradeep Singh Rathore, and Monika Choudhary. "DOWN SYNDROME WITH MOYAMOYA SYNDROME." Journal of Evidence Based Medicine and Healthcare 4, no. 29 (April 10, 2017): 1735–37. http://dx.doi.org/10.18410/jebmh/2017/338.

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39

Jonard, S., and D. Dewailly. "Syndrome des ovaires polykystiques : apports récents de la génétique." Gynécologie Obstétrique & Fertilité 30, no. 7-8 (July 2002): 603–9. http://dx.doi.org/10.1016/s1297-9589(02)00382-x.

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40

Leguern, E. "Génétique des encéphalopathies épileptiques : l’exemple du syndrome de Dravet." Revue Neurologique 169 (April 2013): A191. http://dx.doi.org/10.1016/j.neurol.2013.01.451.

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41

Simon-Bouy, B., E. Mornet, and J. Boué. "Génétique et handicap intellectuel le syndrome de l'X fragile." Journal de Pédiatrie et de Puériculture 11, no. 5 (August 1998): 265–69. http://dx.doi.org/10.1016/s0987-7983(98)80114-x.

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42

Desarnaulds, Anne, François-Xavier Borruat, Carl Herbort, and François Spertini. "Le Multiple Evanescent White Dot Syndrome: une prédisposition génétique?" Klinische Monatsblätter für Augenheilkunde 208, no. 05 (May 1996): 301–2. http://dx.doi.org/10.1055/s-2008-1035221.

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43

Berg, Joseph M., and Marika Korossy. "Down syndrome before down: A retrospect." American Journal of Medical Genetics 102, no. 2 (2001): 205–11. http://dx.doi.org/10.1002/1096-8628(20010801)102:2<205::aid-ajmg1454>3.0.co;2-c.

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44

Berg, Joseph M. "Down syndrome before down: A postscript." American Journal of Medical Genetics 116A, no. 1 (December 10, 2002): 97–98. http://dx.doi.org/10.1002/ajmg.a.10840.

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45

Riou, Morgan. "Down syndrome screening." Vocation Sage-femme 18, no. 139 (July 2019): 45–47. http://dx.doi.org/10.1016/j.vsf.2019.05.010.

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46

Buckley, Frank. "Modelling Down syndrome." Down Syndrome Research and Practice 12, no. 2 (2008): 98–102. http://dx.doi.org/10.3104/updates.2054.

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47

Maurice Delabar, Jean. "Syndrome de Down." médecine/sciences 26, no. 4 (April 2010): 371–76. http://dx.doi.org/10.1051/medsci/2010264371.

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48

Palumbo, Michelle. "54.4 DOWN SYNDROME." Journal of the American Academy of Child & Adolescent Psychiatry 59, no. 10 (October 2020): S83. http://dx.doi.org/10.1016/j.jaac.2020.07.345.

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49

Stephenson, J. "Diagnosing Down Syndrome." JAMA: The Journal of the American Medical Association 286, no. 22 (December 12, 2001): 2801—a—2801. http://dx.doi.org/10.1001/jama.286.22.2801-a.

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50

Stephenson, Joan. "Diagnosing Down Syndrome." JAMA 286, no. 22 (December 12, 2001): 2801. http://dx.doi.org/10.1001/jama.286.22.2801-jwm10013-2-1.

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