GL検索 v0.1.0
画像は 97 ページを描画したものです
page 97

p.97 抽出テキスト

娠分娩管理に関する診療の手引きQ&A.日産婦新生児血会誌2023; 32: 5-54. 94. Kobayashi T, Morishita E, Tsuda H, et al. Clinical guidance for peripartum management of patients with hereditary thrombophilia. J Obstet Gynaecol Res 2021; 47: 3008- 3033. PMID: 34169611 95. Salomon LJ, Sotiriadis A, Wulff CB, et al. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound Obstet Gynecol 2019; 54: 442-451. PMID: 31124209 96. 日本産科婦人科学会,日本産婦人科医会.産婦人科診療ガイドライン― 産科編 2020.https://www.jsog.or.jp/activity/pdf/gl_ sanka_2020.pdf 97. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012; 14: 296-305. PMID: 22281937 98. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin Summary, Number 226. Obstet Gynecol 2020; 136: 859-867. PMID: 32976375 99. Dar P, Jacobsson B, MacPherson C, et al. Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation. Am J Obstet Gynecol 2022; 227: 259.e1-259.e14. PMID: 35085538 100. 出生前検査認証制度等運営委員会.認証医療機関・認証検査分析機関一覧.https://jams-prenatal.jp/medical-analytical-institutions/ 101. 日本小児循環器学会.小児期発症心疾患実態調査2021 集計結果報告書.JSPCCS NEWS LETTER 2022 No.3: 22-23. https://jspccs. jp/wp-content/uploads/JSPCCSNewsLetter2022-3.pdf 102. Yasuhara J, Garg V. Genetics of congenital heart disease: a narrative review of recent advances and clinical implications. Transl Pediatr 2021; 10: 2366-2386. PMID: 34733677 103. Kodo K, Uchida K, Yamagishi H. Genetic and Cellular Interaction During Cardiovascular Development Implicated in Congenital Heart Diseases. Front Cardiovasc Med 2021; 8: 653244. PMID: 33796576 104. Shikany AR, Landis BJ, Parrott A, et al. A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy. J Pediatr 2020; 227: 231-238. PMID: 32717230 105. Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 1999; 64: 1076- 1086. PMID: 10090893 106. Morrow BE, McDonald-McGinn DM, Emanuel BS, et al. Molecular genetics of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176: 2070-2081. PMID: 30380194 107. Yamagishi H, Ishii C, Maeda J, et al. Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet 1998; 78: 319-321. PMID: 9714432 108. Costain G, Chow EW, Silversides CK, et al. Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet 2011; 48: 819-824. PMID: 22051516 109. Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med 2002; 51: 77-88. PMID: 12125909 110. Du Q, de la Morena MT, van Oers NSC. The Genetics and Epigenetics of 22q 11. 2 Deletion Syndrome. Front Genet 2019; 10: 1365. PMID: 32117416 111. McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q 11. 2 deletion syndrome. Nat Rev Dis Primers 2015; 1: 15071. PMID: 27189754 112. McDonald-McGinn DM, Hain HS, Emanuel BS, et al. 22q 11. 2 Deletion Syndrome. GeneReviews

®. https://www.ncbi.nlm.nih. gov/books/NBK1523/ 113. Maeda J, Yamagishi H, Matsuoka R, et al. Frequent association of 22q11.2 deletion with tetralogy of Fallot. Am J Med Genet 2000; 92: 269-272. PMID: 10842294 114. Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17: 269- 271. PMID: 12088082 115. Morris CA. Williams Syndrome. GeneReviews ®. https://www. ncbi.nlm.nih.gov/books/NBK1249/ 116. Micale L, Turturo MG, Fusco C, et al. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet 2010; 18: 317-323. PMID: 19844261 117. Meng Y, Zhang Y, Tregoubov V, et al. Abnormal spine morphology and enhanced LTP in LIMK- 1 knockout mice. Neuron 2002; 35: 121-133. PMID: 12123613 118. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr 1996; 129: 926- 931. PMID: 8969740 119. Wessel A, Gravenhorst V, Buchhorn R, et al. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A 2004; 127A: 234-237. PMID: 15150772 120. Burch TM, McGowan FX Jr, Kussman BD, et al. Congenital supravalvular aortic stenosis and sudden death associated with anesthesia: what’s the mystery? Anesth Analg 2008; 107: 1848-1854. PMID: 19020129 121. Stagi S, Lapi E, Cecchi C, et al. Williams-beuren syndrome is a genetic disorder associated with impaired glucose tolerance and diabetes in childhood and adolescence: new insights from a longitudinal study. Horm Res Paediatr 2014; 82: 38- 43. PMID: 24925026 122. Bedeschi MF, Bianchi V, Colli AM, et al. Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients. Am J Med Genet A 2011; 155A: 353-359. PMID: 21271653 123. Jones KL, Jones MC, Campo MD. Down syndrome. In: Jones KL, Jones MC, Campo MD. Smith’s recognizable patterns of human malformation, 8th edn. Elsevier, 2022: 1-7. 124. Bull MJ. Down Syndrome. N Engl J Med 2020; 382: 2344-2352. PMID: 32521135 125. Cunningham FG, Leveno KJ, Bloom SL, et al. Prenatal diagnosis. In: Cunningham FG, Leveno KJ, Bloom SL, et al. Williams obstetrics, 25th edn. McGraw-Hill Education, 2018: 277-299. 126. 小穴慎二,市田蕗子,太田八千緒,他.平成14~16 年度研究課題報告 Down 症候群の心血管疾患:核型と表現型、肺高血圧に関する検討.日小循誌 2010; 26: 256-266. 127. Truong DT, Minich LL, Maleszewski JJ, et al. Atrioventricular septal defects. In: Robert ES, Penny DJ, Feltes TF, et al. Moss and Adams’ Heart disease in infants, children and adolescents, 10th edn. Wolters Kluwer, 2022: 721-745. 128. Goldhaber SZ, Brown WD, Sutton MG. High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with Down’s syndrome. JAMA 1987; 258: 1793- 1795. PMID: 2957521 129. Masaki N, Saiki Y, Endo M, et al. Is Trisomy 21 a Risk Factor for Rapid Progression of Pulmonary Arteriopathy? ― Revisiting Histopathological Characteristics Using 282 Lung Biopsy Specimens. Circ J 2018; 82: 1682-1687. PMID: 29553089 130. Hoashi T, Hirahara N, Murakami A, et al. Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan. Circ J 2018; 82: 403-408. PMID: 28904256 131. Head E, Phelan MJ, Doran E, et al. Cerebrovascular pathology in Down syndrome and Alzheimer disease. Acta Neuropathol Commun 2017; 5: 93. PMID: 29195510 132. Carfì A, Vetrano DL, Mascia D, et al. Adults with Down syndrome: a comprehensive approach to manage complexity. J Intellect Disabil Res 2019; 63: 624-629. PMID: 30628132 133. Zigman WB. Atypical aging in Down syndrome. Dev Disabil Res Rev 2013; 18: 51-67. PMID: 23949829 134. Jones KL, Jones MC, Campo MD. Trisomy 18 syndrome. In: Jones KL, Jones MC, Campo MD. Smith’s recognizable patterns of human malformation, 8th edn. Elsevier, 2022: 8-13. 135. Kepple JW, Fishler KP, Peeples ES. Surveillance guidelines for children with trisomy 18. Am J Med Genet A 2021; 185: 1294- 1303. PMID: 33527722 136. Maeda J, Yamagishi H, Furutani Y, et al. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet A 2011; 155A: 2641-2646. PMID: 21990245 137. Van Praagh S, Truman T, Firpo A, et al. Cardiac malformations in trisomy- 18: a study of 41 postmortem cases. J Am Coll Cardiol 1989; 13: 1586-1597. PMID: 2723271 138. Tahara M, Sanada K, Morita R, et al. Insufficient development of vessels and alveoli in lungs of infants with trisomy 18-Features of pulmonary histopathological findings from lung biopsy. Am J Med Genet A 2021; 185: 1059-1066. PMID: 33394558 139. Peterson JK, Kochilas LK, Catton KG, et al. Long-Term Outcomes of Children With Trisomy 13 and 18 After Congenital Heart Disease Interventions. Ann Thorac Surg 2017; 103: 1941-1949. PMID: 28456396 140. Nakai R, Fujioka T, Okamura K, et al. Survival Outcomes of Two-Stage Intracardiac Repair in Large Ventricular Septal Defect and Trisomy 18. Pediatr Cardiol 2021; 42: 821- 831. PMID: 33515091 141. Cooper DS, Riggs KW, Zafar F, et al. Cardiac Surgery in Patients With Trisomy 13 and 18: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. J Am Heart Assoc 2019; 8: e012349. PMID: 31237190