Genetic Disorders and the Fetus. Группа авторов
for adult‐onset disease: the experience of Huntington disease. Am J Hum Genet 1990; 47:4.
229 229. Folstein SE. Presymptomatic testing for Huntington's disease: outcome of 136 at‐risk persons who requested testing. Am J Hum Genet 1991; 49:62.
230 230. Wiggins S, Whyte P, Hayden M, et al. No harm, potential benefit: the one year follow‐up of participants in the Canadian Collaborative Study of Predictive Testing for Huntington's Disease. Am J Hum Genet 1991; 49:317.
231 231. Ravine D, Walker RG, Sheffield JL, et al. Experience of family screening for autosomal dominant polycystic kidney disease. Am J Hum Genet 1991; 49:50.
232 232. Baumiller RC, Comley S, Cunningham G, et al. Code of ethical principles for genetics professionals. Am J Med Genet 1996; 65:177.
233 233. Baumiller RC, Cunningham G, Fisher N, et al. Code of ethical principles for genetics professionals: an explication. Am J Med Genet 1996: 65:179.
234 234. Langfelder‐Schwind E, Kloza E, Sugerman E, et al. Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns 2005; 14:1.
235 235. Rantanen E, Hietala M, Kristoffersson U, et al. What is ideal genetic counseling? A survey of current international guidelines. Eur J Hum Genet 2008; 16:445.
236 236. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole‐exome sequencing. JAMA 2014; 312:1870.
237 237. Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 2014; 312:1880.
238 238. Tan TY, Dillon OJ, Stark Z, et al. Diagnostic impact and cost‐effectiveness of whole‐exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr 2017; 171:855.
239 239. Li R, Fu F, Yu Q, et al. Prenatal exome sequencing in fetuses with congenital heart defects. Clin Genet 2020; 98:215.
240 240. Sabbagh R, Van den Veyver IB. The current and future impact of genome‐wide sequencing on fetal precision medicine. Hum Genet 2020; 139:1121.
241 241. Nigro V, Savarese M. Genetic basis of limb‐girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1.
242 242. Thomas RH, Berkovic SF. The hidden genetics of epilepsy – a clinically important new paradigm. Nat Rev Neurol 2014; 10:283.
243 243. Armand T, Schaefer E, Di Rocco F, et al. Genetic bases of craniosynostoses: an update. Neurochirurgie 2019; 65(5):196.
244 244. Passos‐Bueno MR, Serti Eacute AE, Jehee FS, et al. Genetics of craniosynostosis: genes, syndromes, mutations and genotype‐phenotype correlations. Front Oral Biol 2008; 12:107.
245 245. Paumard‐Hernandez B, Berges‐Soria J, Barroso E. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet 2015; 23(7):907.
246 246. Jezela‐Stanek A, Krajewska‐Walasek M. Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol 2013; 17:22.
247 247. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372:657.
248 248. Rossetti S, Harris PC. Genotype–phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol 2007; 18:1374.
249 249. Bergmann C, Brüchle NO, Frank V, et al. Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N Engl J Med 2008; 359:318.
250 250. Rasmussen SA, Mulinare J, Khoury MJ, et al. Evaluation of birth defect histories obtained through maternal interviews. Am J Hum Genet 1990; 46:478.
251 251. Haxton MJ, Bell J. Fetal anatomical abnormalities and other associated factors in middle‐trimester abortion and their relevance to patient counseling. Br J Obstet Gynaecol 1983; 90:501.
252 252. Harper PS. Myotonic dystrophy, 2nd edn. London: WB Saunders, 1989.
253 253. Bergoffen J, Kant J, Sladky J, et al. Paternal transmission of congenital myotonic dystrophy. J Med Genet 1994; 31:518.
254 254. Wieringa B. Myotonic dystrophy reviewed: back to the future? Hum Mol Genet 1994; 3:1.
255 255. Shelbourne P, Winqvist R, Kunert E, et al. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum Mol Genet 1992; 1:467.
256 256. Brunner HG, Jansen G, Nillesen W, et al. Reverse mutation in myotonic dystrophy. N Engl J Med 1993; 328:476.
257 257. O'Hoy KL, Tsilfidis C, Mahadevan MS, et al. Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 1993; 259:809.
258 258. Brook JD. Retreat of the triplet repeat? Nat Genet 1993; 3:279.
259 259. Hunter AG, Jacob P, O'Hoy K, et al. Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counseling and genetic anticipation. Am J Med Genet 1993; 45:401.
260 260. Ashizawa T, Anvret M, Baiget M, et al. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 1994; 54:414.
261 261. Abeliovich D, Lerer I, Pashut‐Lavon I, et al. Negative expansion of the myotonic dystrophy unstable sequence. Am J Hum Genet 1993; 52:1175.
262 262. Ashizawa T, Dunne PW, Ward PA, et al. Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology 1994; 44:120.
263 263. Fraser FC. Genetic counseling. Am J Hum Genet 1974; 26(5):636.
264 264. World Health Organization Expert Committee. Genetic counseling. WHO Tech Rep 1969; 416:1.
265 265. Wertz DC, Fletcher JC. Attitudes of genetic counselors: a multinational survey. Am J Hum Genet 1988; 42:592.
266 266. Wertz DC, Fletcher JC, Mulvihill JJ. Medical geneticists confront ethical dilemmas: cross‐cultural comparisons among 18 nations. Am J Hum Genet 1990; 46:1200.
267 267. Kessler S. Psychological aspects of genetic counseling. XI. Nondirectiveness revisited. Am J Med Genet 1997; 72:164.
268 268. Vanstone M, Kinsella EA, Nisker J. Information‐sharing to promote informed choice in prenatal screening in the spirit of the SOGC clinical practice guideline: a proposal for an alternative model. J Obstet Gynecol Can 2012; 34:269.
269 269. Pennacchini M, Pensieri C. Is non‐directive communication in genetic counseling possible? Clin Ter 2011; 162:e141.
270 270. Michie S, Bron F, Bobrow M, et al. Nondirectiveness in genetic counseling: an empirical study. Am J Hum Genet 1997; 60:40.
271 271. Clarke A. Is non‐directive genetic counseling possible? Lancet 1991; 338:998.
272 272. Milunsky A, Littlefield JW, Kanfer JN, et al. Prenatal genetic diagnosis. N Engl J Med 1970; 283:1370, 1441, 1498.
273 273. Super M. Non‐directive genetic counseling. Lancet 1991; 338:1266.
274 274. Pembrey M. Non‐directive genetic counseling. Lancet 1991; 338:1267.
275 275. Harris R, Hopkins A. Non‐directive genetic counseling. Lancet 1991; 338:1268.
276 276. Clarke A. Non‐directive genetic counseling. Lancet 1991; 338:1524.
277 277. Einhorn HJ, Hogarth RM. Behavioral decision theory: processes of judgment and choice. Annu Rev Psychol 1981; 32:53.
278 278. Simms M. Informed dissent: the view of some mothers of severely mentally handicapped young adults. J Med Ethics 1986; 12:72.
279 279. Simms M. Non‐directive genetic counseling. Lancet 1991; 338:1268.
280 280. Chang BS, Lowenstein DH. Epilepsy. N Engl J Med 2003; 349:1257.
281 281. Keeling SL. Duty to warn of genetic harm in breach of patient confidentiality. J Law Med 2004; 12:235.
282 282. Carnevale A, Lisker R,