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Journal articles on the topic 'Prader'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 April 2022

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1

Ács, Orsolya Dóra, Bálint Péterfia, Péter Hollósi, Irén Haltrich, Ágnes Sallai, Andrea Luczay, Karin Buiting, et al. "Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására." Orvosi Hetilap 159, no. 2 (January 2018): 64–69. http://dx.doi.org/10.1556/650.2018.30918.

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Abstract: Introduction: According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader–Willi syndrome. Aim: Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader–Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader–Willi syndrome. Method: We studied 17 clinically suspected Prader–Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. Results: Prader–Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader–Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. Conclusion: Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or excluding clinically suspected Prade-Willi syndrome cases. Orv Hetil. 2018; 159(2): 64–69.

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2

Goulart, Karollyne Campos Ferreira, Erasmo Henrique Rezende Golinelli, Luiza Castro Fernandes, Ana Claudia do Nascimento Coutinho, Isabella Freire Pedrini, Haiana Coelho Rocha Silva, João Victor Alves Xavier, et al. "Síndrome de Prader-Willi/ Prader-Willi syndrome." Brazilian Journal of Health Review 4, no. 5 (October 13, 2021): 21636–43. http://dx.doi.org/10.34119/bjhrv4n5-250.

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3

Millichap, J. Gordon. "Prader-Willi Syndrome." Pediatric Neurology Briefs 5, no. 12 (December 1, 1991): 90. http://dx.doi.org/10.15844/pedneurbriefs-5-12-2.

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4

Marsh, Lynne. "Prader-Willi syndrome." Learning Disability Practice 21, no. 6 (November 27, 2018): 14. http://dx.doi.org/10.7748/ldp.21.6.14.s17.

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5

McCandless, Shawn E. "Prader-Willi Syndrome." NeoReviews 6, no. 12 (December 2005): e559-e566. http://dx.doi.org/10.1542/neo.6-12-e559.

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6

Ward, O. Conor. "Prader-Willi syndrome." Lancet 356, no. 9244 (November 2000): 1856. http://dx.doi.org/10.1016/s0140-6736(05)73324-9.

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7

Cassidy, Suzanne B., and David H. Ledbetter. "Prader-Willi Syndrome." Neurologic Clinics 7, no. 1 (February 1989): 37–54. http://dx.doi.org/10.1016/s0733-8619(18)30827-2.

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8

Kundert, Deborah King. "Prader-Willi syndrome." School Psychology Quarterly 23, no. 2 (June 2008): 246–57. http://dx.doi.org/10.1037/1045-3830.23.2.246.

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9

Couper, RTL, and JJ Couper. "Prader-Willi syndrome." Lancet 356, no. 9230 (August 2000): 673–75. http://dx.doi.org/10.1016/s0140-6736(00)02617-9.

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10

Harris, Rebecca M., and Diane E. J. Stafford. "Prader Willi syndrome." Current Opinion in Endocrinology & Diabetes and Obesity 27, no. 1 (February 2020): 56–62. http://dx.doi.org/10.1097/med.0000000000000517.

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11

Cassidy, S. B. "Prader-Willi syndrome." Journal of Medical Genetics 34, no. 11 (November 1, 1997): 917–23. http://dx.doi.org/10.1136/jmg.34.11.917.

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12

Cassidy, Suzanne B., and Daniel J. Driscoll. "Prader–Willi syndrome." European Journal of Human Genetics 17, no. 1 (September 10, 2008): 3–13. http://dx.doi.org/10.1038/ejhg.2008.165.

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13

Glaspy, Erin, and Julie Foge. "Prader–Willi Syndrome." Advances in Neonatal Care 15, no. 4 (August 2015): 290–98. http://dx.doi.org/10.1097/anc.0000000000000211.

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14

Irizarry, Krystal A., Mark Miller, Michael Freemark, and Andrea M. Haqq. "Prader Willi Syndrome." Advances in Pediatrics 63, no. 1 (August 2016): 47–77. http://dx.doi.org/10.1016/j.yapd.2016.04.005.

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15

Martin, Andrés, Matthew State, Kathleen Koenig, Robert Schultz, Elizabeth M. Dykens, Suzanne B. Cassidy, and James F. Leckman. "Prader-Willi Syndrome." American Journal of Psychiatry 155, no. 9 (September 1998): 1265–73. http://dx.doi.org/10.1176/ajp.155.9.1265.

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16

Laurence, B. M. "Prader-Willi Syndrome." Journal of the Royal Society of Medicine 80, no. 11 (November 1987): 718–20. http://dx.doi.org/10.1177/014107688708001124.

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17

Whitman, B. Y., and P. J. Accardo. "Prader-Willi Syndrome." Journal of the Royal Society of Medicine 82, no. 7 (July 1989): 448. http://dx.doi.org/10.1177/014107688908200738.

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18

KAUFMAN, HOLLY, GAIL OVERTON, JOHN LEGGOTT, and CAROL CLERICUZIO. "Prader-Willi Syndrome." Southern Medical Journal 88, no. 2 (February 1995): 182–84. http://dx.doi.org/10.1097/00007611-199502000-00003.

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19

Jancar, J. "PRADER-WILLI SYNDROME." Journal of Intellectual Disability Research 15, no. 1 (July 22, 2010): 20–29. http://dx.doi.org/10.1111/j.1365-2788.1971.tb01137.x.

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20

Mahgoub, Nahla A. "Prader-Willi Syndrome." Journal of Neuropsychiatry and Clinical Neurosciences 19, no. 2 (April 2007): 203–4. http://dx.doi.org/10.1176/jnp.2007.19.2.203.

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21

Hansen, Beverly D. "Prader-Willi Syndrome." Journal of Obstetric, Gynecologic & Neonatal Nursing 18, no. 5 (September 1989): 392–94. http://dx.doi.org/10.1111/j.1552-6909.1989.tb00492.x.

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22

Couper, RTL. "Prader-Willi syndrome." Journal of Paediatrics and Child Health 35, no. 4 (August 1999): 331–34. http://dx.doi.org/10.1046/j.1440-1754.1999.00397.x.

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23

Anlar, Banu. "Prader Villi sindromu." NATIONAL JOURNAL OF NEUROLOGY, no. 1 (January 15, 2019): 20–22. http://dx.doi.org/10.28942/nnj.v1i1.209.

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Prader Villi Sindromu (PVS) müxtəlif üz görüntüsü, hipotoniya, mental və motor inkişaf geriliyi olan xəstələrdə nəzərə alınması lazım olan, davranış xüsusiyyətləri soruşularaq, xromosom analizi ilə dəqiq diaqnoz qoyulması lazım olan bir genetik xəstəlikdir. Genomik “imprinting” mexanizminin rolunun təyin olunmuş olan ilk xəstəliklərdən biridir. Daimi fizioterapiya ve reabilitasiya; uşaq nevroloqu, uşaq endokrinoloq və uşaq fizioterapevti tərəfindən müşahidə və davranış qaydalarının öyrədilməsi ilə PVS-lu uşaqlarda əhəmiyyətli dərəcədə motor-mental inkişaf və cəmiyyətə uyğunlaşmanı təmin etmə müşahidə oluna bilər.

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24

Butler, Merlin G., and Travis Thompson. "Prader-Willi Syndrome." Endocrinologist 10, Supplement 1 (July 2000): 3S—16S. http://dx.doi.org/10.1097/00019616-200010041-00002.

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25

Carrel, Aaron L., Susan E. Myers, Barbara Y. Whitman, and David B. Allen. "Prader-Willi Syndrome." Endocrinologist 10, Supplement 1 (July 2000): 43S—49S. http://dx.doi.org/10.1097/00019616-200010041-00010.

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26

Kroonen, Leo T., Martin Herman, Peter D. Pizzutillo, and G. Dean MacEwen. "Prader-Willi Syndrome." Journal of Pediatric Orthopaedics 26, no. 5 (September 2006): 673–79. http://dx.doi.org/10.1097/01.bpo.0000226282.01202.4f.

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27

Zachmann, Milo, Andreas Fanconi, and Wolfgang Sippell. "Professor Andrea Prader." Hormone Research 42, no. 6 (1994): 243–44. http://dx.doi.org/10.1159/000184202.

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28

Lewis, Cynthia L. "Prader-Willi Syndrome." Pediatric Physical Therapy 12, no. 2 (2000): 87???95. http://dx.doi.org/10.1097/00001577-200001220-00006.

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29

Lewis, Cynthia L. "Prader-Willi Syndrome." Pediatric Physical Therapy 12, no. 2 (2000): 87???95. http://dx.doi.org/10.1097/00001577-200012020-00006.

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30

HOEFNAGEL, D., P. J. COSTELLO, and KHALIL HATOUM. "PRADER - WILLI SYNDROME*." Journal of Intellectual Disability Research 11, no. 1 (June 28, 2008): 1–11. http://dx.doi.org/10.1111/j.1365-2788.1967.tb00197.x.

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31

JUUL, J., and ANNALISE DUPONT. "PRADER-WILLI SYNDROME." Journal of Intellectual Disability Research 11, no. 1 (June 28, 2008): 12–22. http://dx.doi.org/10.1111/j.1365-2788.1967.tb00198.x.

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32

McCamman, Sarah, Jane Rues, and Susan Cannon. "Prader-Willi syndrome." Topics in Clinical Nutrition 3, no. 3 (July 1988): 1–8. http://dx.doi.org/10.1097/00008486-198807000-00006.

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33

Laurance, B. M. "Prader-Willi Syndrome." Archives of Disease in Childhood 64, no. 5 (May 1, 1989): 767. http://dx.doi.org/10.1136/adc.64.5.767-a.

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34

Maier-Brandt, Brigitte, M. Ries, T. Lang, R. Rauch, L. Naehrlich, D. Harms, and D. Wenzel. "Prader-Willi-Syndrom." Monatsschrift Kinderheilkunde 145, no. 5 (May 22, 1997): 515–18. http://dx.doi.org/10.1007/s001120050152.

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35

Veltman, Marijcke W. M., Russell J. Thompson, Sian E. Roberts, N. Simon Thomas, Joyce Whittington, and Patrick F. Bolton. "Prader-Willi syndrome." European Child & Adolescent Psychiatry 13, no. 1 (February 1, 2004): 42–50. http://dx.doi.org/10.1007/s00787-004-0354-6.

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36

Cassidy, Suzanne B., Stuart Schwartz, Jennifer L. Miller, and Daniel J. Driscoll. "Prader-Willi syndrome." Genetics in Medicine 14, no. 1 (September 26, 2011): 10–26. http://dx.doi.org/10.1038/gim.0b013e31822bead0.

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37

Aparna, Korrapati. "Prader-willi syndrome." MedPulse International Journal of Pediatrics 20, no. 3 (2021): 34–35. http://dx.doi.org/10.26611/10142031.

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38

Aparna, Korrapati. "Prader-willi syndrome." MedPulse International Journal of Pediatrics 20, no. 2 (2021): 34–35. http://dx.doi.org/10.26611/10142023.

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39

Cheon, Chong Kun. "Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome." Annals of Pediatric Endocrinology & Metabolism 21, no. 3 (2016): 126. http://dx.doi.org/10.6065/apem.2016.21.3.126.

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40

State, Matthew W., Elisabeth M. Dykens, Beth Rosner, Andres Martin, and Bryan H. King. "Obsessive-Compulsive Symptoms in Prader-Willi and “Prader-Willi—Like” Patients." Journal of the American Academy of Child & Adolescent Psychiatry 38, no. 3 (March 1999): 329–34. http://dx.doi.org/10.1097/00004583-199903000-00021.

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41

Verdine, Brian N., Georgene L. Troseth, Robert M. Hodapp, and Elisabeth M. Dykens. "Strategies and Correlates of Jigsaw Puzzle and Visuospatial Performance by Persons With Prader-Willi Syndrome." American Journal on Mental Retardation 113, no. 5 (September 1, 2008): 343–55. http://dx.doi.org/10.1352/2008.113:342-355.

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Abstract Some individuals with Prader-Willi syndrome exhibit strengths in solving jigsaw puzzles. We compared visuospatial ability and jigsaw puzzle performance and strategies of 26 persons with Prader-Willi syndrome and 26 MA-matched typically developing controls. Individuals with Prader-Willi syndrome relied on piece shape. Those in the control group used a different, picture-focused strategy. Individuals with Prader-Willi syndrome performed better than did the control group on an achromatic interlocking puzzle, whereas scores on puzzles with pictures (interlocking or noninterlocking) did not differ. Visuospatial scores related to performance on all puzzles in the control group and on the noninterlocking puzzle in the Prader-Willi syndrome group. The most proficient jigsaw puzzlers with Prader-Willi syndrome tended to be older and have shape-based strategies.

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42

Young, I. D. "Diagnosing Prader-Willi syndrome." Lancet 345, no. 8965 (June 1995): 1590. http://dx.doi.org/10.1016/s0140-6736(95)90112-4.

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43

Zachmann, Milo. "Andrea Prader 1919–2001." Hormone Research in Paediatrics 56, no. 5-6 (2001): 205–7. http://dx.doi.org/10.1159/000048118.

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44

Burke, Conor M. "Familial Prader-Willi Syndrome." Archives of Internal Medicine 147, no. 4 (April 1, 1987): 673. http://dx.doi.org/10.1001/archinte.1987.00370040055010.

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45

Burke, C. M. "Familial Prader-Willi syndrome." Archives of Internal Medicine 147, no. 4 (April 1, 1987): 673–75. http://dx.doi.org/10.1001/archinte.147.4.673.

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46

Donaldson, M. D., C. E. Chu, A. Cooke, A. Wilson, S. A. Greene, and J. B. Stephenson. "The Prader-Willi syndrome." Archives of Disease in Childhood 70, no. 1 (January 1, 1994): 58–63. http://dx.doi.org/10.1136/adc.70.1.58.

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47

Peters, Jo. "Prader-Willi and snoRNAs." Nature Genetics 40, no. 6 (June 2008): 688–89. http://dx.doi.org/10.1038/ng0608-688.

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48

Salminen, Iiro Ilmari, Bernard J. Crespi, and Mikael Mokkonen. "Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes." SAGE Open Medicine 7 (January 2019): 205031211882358. http://dx.doi.org/10.1177/2050312118823585.

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Prader–Willi and Angelman syndromes are often referred to as a sister pair of neurodevelopmental disorders, resulting from different genetic and epigenetic alterations to the same chromosomal region, 15q11-q13. Some of the primary phenotypes of the two syndromes have been suggested to be opposite to one another, but this hypothesis has yet to be tested comprehensively, and it remains unclear how opposite effects could be produced by changes to different genes in one syndrome compared to the other. We evaluated the evidence for opposite effects on sleep and eating phenotypes in Prader–Willi syndrome and Angelman syndrome, and developed physiological–genetic models that represent hypothesized causes of these differences. Sleep latency shows opposite deviations from controls in Prader–Willi and Angelman syndromes, with shorter latency in Prader–Willi syndrome by meta-analysis and longer latency in Angelman syndrome from previous studies. These differences can be accounted for by the effects of variable gene dosages of UBE3A and MAGEL2, interacting with clock genes, and leading to acceleration (in Prader–Willi syndrome) or deceleration (in Angelman syndrome) of circadian rhythms. Prader–Willi and Angelman syndromes also show evidence of opposite alterations in hyperphagic food selectivity, with more paternally biased subtypes of Angelman syndrome apparently involving increased preference for complementary foods (“baby foods”); hedonic reward from eating may also be increased in Angelman syndrome and decreased in Prader–Willi syndrome. These differences can be explained in part under a model whereby hyperphagia and food selectivity are mediated by the effects of the genes SNORD-116, UBE3A and MAGEL2, with outcomes depending upon the genotypic cause of Angelman syndrome. The diametric variation observed in sleep and eating phenotypes in Prader–Willi and Angelman syndromes is consistent with predictions from the kinship theory of imprinting, reflecting extremes of higher resource demand in Angelman syndrome and lower demand in Prader–Willi syndrome, with a special emphasis on social–attentional demands and attachment associated with bedtime, and feeding demands associated with mother-provided complementary foods compared to offspring-foraged family-type foods.

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49

Millichap, J. Gordon. "Prader-Willi Syndrome: Diagnostic Criteria." Pediatric Neurology Briefs 7, no. 3 (March 1, 1993): 17. http://dx.doi.org/10.15844/pedneurbriefs-7-3-1.

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50

Millichap, J. Gordon. "Prader-Willi Syndrome in Neonates." Pediatric Neurology Briefs 4, no. 12 (December 1, 1990): 91. http://dx.doi.org/10.15844/pedneurbriefs-4-12-5.

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