Название | Genetic Disorders and the Fetus |
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Автор произведения | Группа авторов |
Жанр | Биология |
Серия | |
Издательство | Биология |
Год выпуска | 0 |
isbn | 9781119676959 |
178 178. Neri G, Schwartz CE, Lubs HA, et al. X‐linked intellectual disability update 2017. Am J Med Genet Part A 2018; 00:1.
179 179. López‐Rivera JA, Pérez‐Palma E, Symonds J, et al. A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. Brain 2020; 143(4):1099.
180 180. Gnazzo M, Lepri FR, Dentici ML, et al. KBG syndrome: common and uncommon clinical features based on 31 new patients. Am J Med Genet A 2020; 182:1073.
181 181. McNeill A, Lewis R, Freeth M. Views of adults with 22q11 deletion syndrome on reproductive choices. Am J Med Genet A 2020; 182:1284.
182 182. Van L, Heung T, Graffi J, et al. All‐cause mortality and survival in adult with 22q11.2 deletion syndrome. Genet Med 2019; 21:2328.
183 183. Palmer LD, Butcher NJ, Boot E, et al. Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176:936.
184 184. Milunsky A. I didn't know, I didn't know: avoidable deaths and harm due to medical negligence. Amazon Createspace, 2018.
185 185. Milunsky A. Obstetrics, genetics and litigation. (in press).
186 186. Jayaraman D, Bae B, Walsh CA. The genetics of primary microcephaly. Annu Rev Genomics Hum Genet 2018; 19:177.
187 187. Shaheen R, Maddirevula S, Ewida N, et al. Genomic and phenotypic delineation of congenital microcephaly. Genet Med 2019; 21:545.
188 188. Boonsawat P, Joset P, Steindl K, et al. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genet Med 2019; 21:2043.
189 189. Zouvelou V, Yubero D, Apostolakopoulou L, et al. The genetic etiology in cerebral palsy mimics: the results from a Greek tertiary care center. Eur J Paediatr Neurol 2019; 23:427.
190 190. Matthews AM, Blydt‐Hansen I, Al‐Jabri B, et al. Atypical cerebral palsy: Genomics analysis enables precision medicine. Genet Med 2019; 21:1621.
191 191. Pearson TS, Pons R, Ghaoui R, et al. Genetic mimics of cerebral palsy. Mov Disord 2019; 34:625.
192 192. Harris R, Lane B, Harris H, et al. National Confidential Enquiry into counseling for genetic disorders by non‐geneticists: general recommendations and specific standards for improving care. Br J Obstet Gynaecol 1999; 106:658.
193 193. van Langen IM, Birnie E, Leschot NJ, et al. Genetic knowledge and counseling skills of Dutch cardiologists: sufficient for the genomics era? Eur Heart J 2003; 24:560.
194 194. Rosas‐Blum E, Shirsat P, Leiner M. Communicating genetic information: a difficult challenge for future pediatricians. BMC Med Educ 2007; 7:17.
195 195. Harvey EK, Fogel CE, Peyrot M, et al. Providers' knowledge of genetics: a survey of 5915 individuals and families with genetic conditions. Genet Med 2007; 9:259.
196 196. Baars MJ, Henneman L, Ten Kate LP. Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists and pediatricians: a global problem. Genet Med 2005; 7:605.
197 197. Shaer CM, Chescheir N, Erickson K, et al. Obstetrician‐gynecologists' practice and knowledge regarding spina bifida. Am J Perinatol 2006; 23:355.
198 198. Haga SB, Burke W, Ginsburg GS, et al. Primary care physicians' knowledge of and experience with pharmacogenetic testing. Clin Genet 2012; 82:388.
199 199. Milunsky A. The “new genetics” in clinical practice: a brief primer. J Am Board Fam Med 2017; 30(3):377.
200 200. Committee on Genetics. Committee Opinion No. 693: Counseling about genetic testing and communication of genetic test results. Obstet Gynecol 2017; 129:e96.
201 201. Gordis L, Childs B, Roseman MG. Obstetricians' attitudes toward genetic screening. Am J Public Health 1977; 67:469.
202 202. Kessler S. Psychological aspects of genetic counseling. XII. More on counseling skills. J Genet Couns 1998; 7:263.
203 203. Milunsky A, Annas GJ. Genetics and the law. New York: Plenum Press, 1976.
204 204. Milunsky A, Annas GJ. Genetics and the law II. New York: Plenum Press, 1980.
205 205. Milunsky A, Annas GJ. Genetics and the law III. New York: Plenum Press, 1985.
206 206. Levetown M and the Committee on Bioethics. Communicating with children and families: from everyday interactions to skill in conveying distressing information. Pediatrics 2008; 121:e1441.
207 207. Forrest LE, Delatycki MB, Skene L, et al. Communicating genetic information in families – a review of guidelines and position papers. Eur J Hum Genet 2007; 15:612.
208 208. Phillips A, Niemiec E, Howard HC, et al. Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing. Eur J Hum Genet 2020; 28:1160.
209 209. Farrell M, Deuster L, Donovan J, et al. Pediatric residents' use of jargon during counseling about newborn genetic screening results. Pediatrics 2008; 122:243.
210 210. Welkenhuysen M, Evers‐Kiebooms G, d'Ydewalle G. The language of uncertainty in genetic risk communication: framing and verbal versus numerical information. Patient Educ Couns 2001; 43:179.
211 211. Benkendorf JL, Prince MB, Rose MA, et al. Does indirect speech promote nondirective genetic counseling? Results of a sociolinguistic investigation. Am J Med Genet 2001; 106:199.
212 212. Abramsky L, Fletcher O. Interpreting information: what is said, what is heard – a questionnaire study of health professionals and members of the public. Prenat Diagn 2002; 22:1188.
213 213. O'Doherty K, Suthers GK. Risky communication: pitfalls in counseling about risk and how to avoid them. J Genet Couns 2007; 16:409.
214 214. Palermo GD, O'Neill CL, Chow S, et al. Intracytoplasmic sperm injection: state of the art in humans. Reproduction 2017; 154(6):F93.
215 215. Hibi H, Sumitomo M, Fukunaga N, et al. Superior clinical pregnancy rates after microsurgical epididymal sperm aspiration. Reprod Med Biol 2018; 17(1):59.
216 216. Decety J. Empathy in medicine: what it is, and how much we really need it. Am J Med 2020; 133:561.
217 217. Looi JCL. Empathy and competence. Med J Aust 2008; 188:414.
218 218. Eden OB, Black I, MacKinlay GA, et al. Communication with parents of children with cancer. Palliat Med 1994; 8:105.
219 219. Turner J, Biesecker B, Leib J, et al. Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. Am J Med Genet A 2007; 143A:2089.
220 220. Hojat M, Mangione S, Nasca TJ, et al. The Jefferson Scale of Physician Empathy: development and preliminary psychometric data. Educ Psychol Meas 2001; 61:349.
221 221. Lehmann A, Speight BS, Kerzin‐Storrar L. Extended family impact of genetic testing: the experiences of X‐linked carrier grandmothers. J Genet Couns 2011; 20:365.
222 222. James CA, Hadley DW, Holtzman NA, et al. How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma and understanding of inheritance and reproductive risks in families with X‐linked and autosomal recessive diseases. Genet Med 2006; 8:234.
223 223. Targum SD. Psychotherapeutic considerations in genetic counseling. Am J Med Genet 1981; 8:281.
224 224. Kessler S, Kessler H, Ward P. Psychological aspects of genetic counseling. III. Management of guilt and shame. Am J Med Genet 1984; 17:673.
225 225. Hayden MR, Canadian Collaborative Study of Predictive Testing for HD. Predictive medicine for late onset disorders: the experience for Huntington disease. Am J Hum Genet 1991; 49:50.
226 226. Tibben A, Vegter‐van der Vlis M, Skraastad MI, et al. Presymptomatic DNA‐testing for Huntington disease in The Netherlands. Am J Hum Genet 1991; 49:316.
227 227. Craufurd D, Dodge A, Kerzin‐Storrar L, et al. Psychosocial impact of presymptomatic predictive testing for Huntington's disease. Am J Hum Genet 1991; 49:311.
228 228.