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Journal articles on the topic 'Cockayne, Syndrome de – Étiologie'

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Published: 25 May 2024

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1

Khan, Firosh, Thomas Chemmanam, and PS Mathuranath. "Cockayne syndrome." Annals of Indian Academy of Neurology 11, no. 2 (2008): 125. http://dx.doi.org/10.4103/0972-2327.41884.

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2

Mallory, Susan B., Bernice R. Krafchik, Matthew M. Bender, Lorraine Potocki, and Denise W. Metry. "Cockayne Syndrome." Pediatric Dermatology 20, no. 6 (November 2003): 538–40. http://dx.doi.org/10.1111/j.1525-1470.2003.20619.x.

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3

LEECH, RICHARD W., ROGER A. BRUMBACK, RONALD H. MILLER, FUJIO OTSUKA, ROBERT E. TARONE, and JAY H. ROBBINS. "Cockayne Syndrome." Journal of Neuropathology and Experimental Neurology 44, no. 5 (September 1985): 507–19. http://dx.doi.org/10.1097/00005072-198509000-00006.

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4

Brodsky, Michael C., and Deborah L. Renaud. "Pseudopapilledema in Cockayne syndrome." American Journal of Ophthalmology Case Reports 22 (June 2021): 101035. http://dx.doi.org/10.1016/j.ajoc.2021.101035.

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5

Koob, M., V. Laugel, M. Durand, H. Fothergill, C. Dalloz, F. Sauvanaud, H. Dollfus, I. J. Namer, and J. L. Dietemann. "Neuroimaging In Cockayne Syndrome." American Journal of Neuroradiology 31, no. 9 (June 3, 2010): 1623–30. http://dx.doi.org/10.3174/ajnr.a2135.

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6

Sowmini, PR, MSathish Kumar, SSakthi Velayutham, G. Revathy, and S. Arunan. "Cockayne syndrome in siblings." Neurology India 66, no. 5 (2018): 1488. http://dx.doi.org/10.4103/0028-3886.241349.

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7

Bhojwani, Rajan, I. Chris Lloyd, Suemyaa Alam, and Jane Ashworth. "Blepharokeratoconjunctivitis in Cockayne Syndrome." Journal of Pediatric Ophthalmology & Strabismus 46, no. 3 (May 1, 2009): 184–85. http://dx.doi.org/10.3928/01913913-20090505-15.

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8

Wooldridge, W. J., O. R. Dearlove, and A. A. Khan. "Anaesthesia for Cockayne syndrome." Anaesthesia 51, no. 5 (May 1996): 478–81. http://dx.doi.org/10.1111/j.1365-2044.1996.tb07795.x.

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9

Hara, Iwao, George Umemoto, Hiromasa Takahashi, and Toshihiro Kikuta. "Swallowing in Cockayne Syndrome." Oral Science International 5, no. 2 (November 2008): 141–45. http://dx.doi.org/10.1016/s1348-8643(08)80019-5.

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10

CUNHA, KARIN SOARES GONÇALVES, RAQUEL RICHELIEU LIMA DE ANDRADE PONTES, RAFAELA ELVIRA ROZZA DE MENEZES, ELOÁ BORGES LUNA, ARLEY SILVA, KARLA BIANCA FERNANDES DA COSTA FONTES, and ALEXANDRE TRINDADE SIMÕES DA MOTTA. "Cockayne Syndrome: Case Report." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 117, no. 2 (February 2014): e148. http://dx.doi.org/10.1016/j.oooo.2013.11.085.

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11

Perera, M. N. P., and J. Wanigasinghe. "Cockayne syndrome: picture story." Sri Lanka Journal of Neurology 4, no. 1 (December 30, 2015): 27. http://dx.doi.org/10.4038/sljon.v4i1.77.

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12

Bhupathi, Meghana, C. S. N. Vittal, Anjali Mediboina, Sai T. Rachakonda, and Ayesha Aijaz. "Cockayne syndrome: an uncommon clinical entity." International Journal of Contemporary Pediatrics 10, no. 9 (August 25, 2023): 1472–74. http://dx.doi.org/10.18203/2349-3291.ijcp20232599.

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Cockayne syndrome is a rare autosomal recessive genetic disorder characterized by microcephaly, failure to thrive, and delayed development. It is associated with an abnormally small head size, stunted growth, and a high incidence of <1 in 250,000 live births. The clinical presentation of Cockayne syndrome varies widely, making diagnosis challenging, particularly in Southern India where limited data is available on its neurological manifestations. This case report describes a 23-year-old male patient presenting with neurological symptoms, highlighting the need for increased awareness and early detection of Cockayne syndrome in this region.

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13

Dev, Nishanth, and Puneet Aggarwal. "Xeroderma pigmentosum-Cockayne syndrome complex." Indian Journal of Medical Research 152, no. 7 (2020): 74. http://dx.doi.org/10.4103/ijmr.ijmr_2097_19.

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14

Palanisamy, Prabakaran, Arunsantosh Pullabhota, Harshavardhana Kurubara Manjaneyadu, and Phani Chakarvarty Mutnuru. "COCKAYNE SYNDROME – A CASE REPORT." Indian Journal of Case Reports 4, no. 2 (April 26, 2018): 112–14. http://dx.doi.org/10.32677/ijcr.2018.v04.i02.010.

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15

Patel, Rifali. "Genetic Diagnosis of Cockayne Syndrome." Pediatric Neurology Briefs 34 (December 2, 2020): 9. http://dx.doi.org/10.15844/pedneurbriefs-34-9.

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16

佘, 任艺. "Research Progress of Cockayne Syndrome." Advances in Clinical Medicine 12, no. 04 (2022): 3060–65. http://dx.doi.org/10.12677/acm.2022.124441.

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17

Medeiros, Joselito S., Elias O. Silva, Horácio Fittipaldi Jr., Mônica W. P. de Carvalho, and Roberto J. V. de Mello. "Cockayne syndrome in two brothers." Jornal de Pediatria 71, no. 6 (November 15, 1995): 344–48. http://dx.doi.org/10.2223/jped.804.

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18

Schepis, Carmelo, Rosaria Palazzo, Giuseppe Fabrizi, and Vincenzo Motta. "Cockayne syndrome and lichen actinicus." Journal of the European Academy of Dermatology and Venereology 3, no. 3 (August 1994): 359–62. http://dx.doi.org/10.1111/j.1468-3083.1994.tb00376.x.

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19

Cocco, Antoniangela, Daniela Calandrella, Miryam Carecchio, Barbara Garavaglia, and Alberto Albanese. "Adult diagnosis of Cockayne syndrome." Neurology 93, no. 19 (November 4, 2019): 854–55. http://dx.doi.org/10.1212/wnl.0000000000008449.

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20

Traboulsi, Elias I., Inge De Becker, and Irene H. Maumenee. "Ocular Findings in Cockayne Syndrome." American Journal of Ophthalmology 114, no. 5 (November 1992): 579–83. http://dx.doi.org/10.1016/s0002-9394(14)74486-1.

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21

Stern-Delfils, Amélie, Marie-Aude Spitz, Myriam Durand, Cathy Obringer, Nadège Calmels, Jérôme Olagne, Komala Pillay, Karen Fieggen, Vincent Laugel, and Ariane Zaloszyc. "Renal disease in Cockayne syndrome." European Journal of Medical Genetics 63, no. 1 (January 2020): 103612. http://dx.doi.org/10.1016/j.ejmg.2019.01.002.

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22

Scheibye-Knudsen, Morten, Deborah L. Croteau, and Vilhelm A. Bohr. "Mitochondrial deficiency in Cockayne syndrome." Mechanisms of Ageing and Development 134, no. 5-6 (May 2013): 275–83. http://dx.doi.org/10.1016/j.mad.2013.02.007.

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23

Hanawalt, Philip C. "The bases for Cockayne syndrome." Nature 405, no. 6785 (May 2000): 415. http://dx.doi.org/10.1038/35013197.

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24

Hirooka, Minoru, Masako Hirota, and Mitsuru Kamada. "Renal lesions in Cockayne syndrome." Pediatric Nephrology 2, no. 2 (1988): 239–43. http://dx.doi.org/10.1007/bf00862599.

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25

Schenone, A., S. Rolando, M. Ferrari, P. Romagnoli, M. Tabaton, and G. L. Mancardi. "Peripheral neuropathy in Cockayne syndrome." Italian Journal of Neurological Sciences 7, no. 4 (July 1986): 447–52. http://dx.doi.org/10.1007/bf02283024.

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26

Simon, Betty, Samuel P. Oommen, Krati Shah, Sunithi E. Mani, and Sridhar Gibikote. "Cockayne syndrome: characteristic neuroimaging features." Acta Neurologica Belgica 115, no. 3 (November 9, 2014): 427–28. http://dx.doi.org/10.1007/s13760-014-0390-z.

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27

Tan, Wen-Hann, Hagit Baris, Caroline D. Robson, and Virginia E. Kimonis. "Cockayne syndrome: The developing phenotype." American Journal of Medical Genetics Part A 135A, no. 2 (2005): 214–16. http://dx.doi.org/10.1002/ajmg.a.30731.

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28

Ovaert, Caroline, Aline Cano, and Brigitte Chabrol. "Aortic dilatation in Cockayne syndrome." American Journal of Medical Genetics Part A 143A, no. 21 (2007): 2604–6. http://dx.doi.org/10.1002/ajmg.a.31986.

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29

Ataee, Pedram, Avat karimi, and Kambiz Eftekhari. "Hepatic Failure following Metronidazole in Children with Cockayne Syndrome." Case Reports in Pediatrics 2020 (January 29, 2020): 1–3. http://dx.doi.org/10.1155/2020/9634196.

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Cockayne syndrome is an uncommon autosomal recessive disease characterized by microcephaly, abnormal growth, and pathologic premature aging. The purpose of this report is to evaluate liver failure in children with Cockayne syndrome following metronidazole administration. The first case was a 2-year-old boy with Cockayne syndrome. He had been treated with metronidazole for gastroenteritis. 48 hours after treatment initiation, he was hospitalized due to jaundice, intractable vomiting, and agitation. Unfortunately, he died of acute liver failure. The second case was a 5-year-old boy with Cockayne syndrome as well, who had been treated with amoxicillin and metronidazole for a dental infection. He developed jaundice, drowsiness, lethargy, and anorexia after treatment. At hospital, the child received supportive treatment, and his general condition gradually improved. The liver enzyme levels decreased. He was finally discharged in good general condition. The mortality after metronidazole consumption in patients with Cockayne syndrome due to liver failure is very high. The awareness of the dangers of using metronidazole in these patients is valuable.

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30

Işıkay, Sedat, Burak Bilgin, Kadri Karaer, and Akif Şirikçi. "A Rare Syndrome and a Rare Association: Dandy–Walker Malformation and Cockayne Syndrome in a Child." Journal of Pediatric Neurology 17, no. 02 (June 11, 2018): 085–88. http://dx.doi.org/10.1055/s-0038-1657759.

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AbstractCockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who was also determined to be having Dandy–Walker malformation in brain imaging. In this article, we aimed to highlight the general characteristic findings of Cockayne syndrome and to report the togetherness of these two rare entities.

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31

Lewis, James M. "COCKAYNE SYNDROME (CS) MASQUERADING AS SECKEL SYNDROME (SS)." Pediatric Research 21, no. 4 (April 1987): 229A. http://dx.doi.org/10.1203/00006450-198704010-00376.

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32

Handzel, Ophir, and Joseph B. Nadol. "Temporal Bone Histopathology in Cockayne Syndrome." Otology & Neurotology 39, no. 5 (June 2018): e387-e391. http://dx.doi.org/10.1097/mao.0000000000001801.

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33

SUNAGA, Yoshihiro, Kenji ERA, Yoshihiro KIMIHIRA, Kazuo YASUKAWA, Hajime SHIBATA, Takashi YANAI, and Nobuo YOSHIZAWA. "Cockayne syndrome : Report of a case." Japanese Journal of Oral & Maxillofacial Surgery 32, no. 12 (1986): 2274–83. http://dx.doi.org/10.5794/jjoms.32.2274.

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34

Sivan, Satish, Usha Varadharajan, Soundarya Srinivasan, and Mahesh Neerupakam. "A Rare Case of Cockayne Syndrome." British Journal of Medicine and Medical Research 14, no. 1 (January 10, 2016): 1–6. http://dx.doi.org/10.9734/bjmmr/2016/22404.

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35

Spivak, G. "The many faces of Cockayne syndrome." Proceedings of the National Academy of Sciences 101, no. 43 (October 19, 2004): 15273–74. http://dx.doi.org/10.1073/pnas.0406894101.

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36

Miyauchi, Hiroko, Takeshi Horio, Tamiyo Akaeda, Yasuo Asada, Hae Ryong Chang, Kanji Ishizaki, and Mituo Ikenaga. "Cockayne syndrome in two adult siblings." Journal of the American Academy of Dermatology 30, no. 2 (February 1994): 329–35. http://dx.doi.org/10.1016/s0190-9622(94)70034-6.

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37

Hayashi, Masaharu, Naho Miwa-Saito, Naoyuki Tanuma, and Masaya Kubota. "Brain vascular changes in Cockayne syndrome." Neuropathology 32, no. 2 (July 12, 2011): 113–17. http://dx.doi.org/10.1111/j.1440-1789.2011.01241.x.

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38

Gruntman, Alisha M., Lin Su, and Terence R. Flotte. "601. Gene Therapy for Cockayne Syndrome." Molecular Therapy 23 (May 2015): S238—S239. http://dx.doi.org/10.1016/s1525-0016(16)34210-1.

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39

Özdirim, Emire, Meral Topçu, Alev Özön, and Ayşenur Cila. "Cockayne syndrome: Review of 25 cases." Pediatric Neurology 15, no. 4 (November 1996): 312–16. http://dx.doi.org/10.1016/s0887-8994(96)00229-9.

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40

Tsujimoto, Mariko, Eiji Nakano, Taro Masaki, Fumio Kanda, Yuka Nakazawa, Tomoo Ogi, and Chikako Nishigori. "A mild case of Cockayne syndrome." Journal of Dermatological Science 86, no. 2 (May 2017): e52-e53. http://dx.doi.org/10.1016/j.jdermsci.2017.02.153.

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41

Trese, Matthew G. J., Eric D. Nudleman, and Cagri G. Besirli. "PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME." Retinal Cases & Brief Reports 11, no. 3 (2017): 232–35. http://dx.doi.org/10.1097/icb.0000000000000328.

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42

van Gool, A. J. "Cockayne syndrome: defective repair of transcription?" EMBO Journal 16, no. 14 (July 15, 1997): 4155–62. http://dx.doi.org/10.1093/emboj/16.14.4155.

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43

Dabbagh, Omar, and Kenneth F. Swaiman. "Cockayne syndrome: MRI correlates of hypomyelination." Pediatric Neurology 4, no. 2 (March 1988): 113–16. http://dx.doi.org/10.1016/0887-8994(88)90051-3.

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44

Muszkat, Mauro, Maria Isabel C. Vergani, Rosana S. C. Alves, Laura M. F. Ferreira, Alice H. Masuko, and Dilene M. Torres. "Cockayne syndrome: Report of 3 cases." Pediatric Neurology 8, no. 5 (September 1992): 386. http://dx.doi.org/10.1016/0887-8994(92)90251-s.

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45

Glick, Benjamin, Yaron Degany, Rami Amit, and Yehuda Shapira. "Mitochondrial encephalomyopathy presenting as cockayne syndrome." Pediatric Neurology 11, no. 2 (September 1994): 105. http://dx.doi.org/10.1016/0887-8994(94)90220-8.

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46

Boltshauser, E., C. Yalcinkaya, W. Wichmann, F. Reutter, A. Prader, and A. Valavanis. "MRI in Cockayne syndrome type I." Neuroradiology 31, no. 3 (July 1989): 276–77. http://dx.doi.org/10.1007/bf00344359.

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47

Cirillo Silengo, M., P. Franceschini, R. Bianco, M. Biagioli, L. Pastorin, N. Vista, A. Baldassar, and L. Benso. "Distinctive skeletal dysplasia in Cockayne syndrome." Pediatric Radiology 16, no. 3 (March 1986): 264–66. http://dx.doi.org/10.1007/bf02456305.

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48

Nance, Martha A., and Susan A. Berry. "Cockayne syndrome: Review of 140 cases." American Journal of Medical Genetics 42, no. 1 (January 1, 1992): 68–84. http://dx.doi.org/10.1002/ajmg.1320420115.

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49

Dianov, G. L., J. F. Houle, N. Iyer, V. A. Bohr, and E. C. Friedberg. "Reduced RNA polymerase II transcription in extracts of Cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells." Nucleic Acids Research 25, no. 18 (September 1, 1997): 3636–42. http://dx.doi.org/10.1093/nar/25.18.3636.

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50

Cepoi, M., F. Birjoveanu, C. Mocanu, and R. Manescu. "594 Syndrome sec étiologie, diagnostic et pronostic." Journal Français d'Ophtalmologie 31 (April 2008): 184. http://dx.doi.org/10.1016/s0181-5512(08)71193-8.

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