Genetic Disorders and the Fetus. Группа авторов

Genetic Disorders and the Fetus - Группа авторов


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maternal morbidity among infertile women: analysis of US claims data. Am J Obstet Gynecol 2020; 223(3):404.e1.

      521 521. Committee on Genetics. Committee opinion no. 691: carrier screening for genetic conditions. Obstet Gynecol 2017; 129:e41.

      522 522. Lim KRQ, Sheri N, Nguyen Q, et al. Cardiac involvement in dystrophin‐deficient females: current understanding and implications for the treatment of dystrophinopathies. Genes 2020; 11(7):765.

      523 523. Ishizaki M, Kobayashi M, Adachi K, et al. Female dystrophinopathy: review of current literature. Neuromuscul Disord 2018; 28:572.

      524 524. Hoogerwaard EM, Van Der Wouw PA, Wilde AAM, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999; 9:347.

      525 525. Viggiano E, Ergoli M, Picillo E, et al. Determining the role of skewed X‐chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. Hum Genet 2016; 135:685.

      526 526. Finsterer J, Stollberger C. Muscle, cardiac, and cerebral manifestations in female carriers of dystrophin variants. J Neurol Sci 2018; 388:107.

      527 527. Tunteeratum A, Witoonpanich R, Phudhichareonrat S, et al. Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene. J Clin Neuromuscul Dis 2009; 11:49.

      528 528. Martinez HR, Pignatelli R, Belmont JW, et al. Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy. Am J Med Genet Part A 2011; 155:3025.

      529 529. Eekhoff L, Edwards J, Martin A, et al. Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy. J Genet Couns 2019; 28:993.

      530 530. Papa R, Madia F, Bartolomeo D, et al. Genetic and early clinical manifestations of females heterozygous for Duchenne/Becker muscular dystrophy. Pediatr Neurol 2016; 55:58.

      531 531. Mah ML, Cripe L, Slawinski MK, et al. Duchenne and Becker muscular dystrophy carriers: evidence of cardiomyopathy by exercise and cardiac MRI testing. Int J Cardiol 2020; 316:257.

      532 532. Papa AA, D'Ambrosio P, Petillo R, et al. Heart transplantation in patients with dystrophinopathic cardiomyopathy: review of the literature and personal series. Intractable Rare Dis Res 2017; 6:95.

      533 533. Allen EG, Charen K, Hipp HS, et al. Clustering of comorbid conditions among women who carry an FMR1 premutation. Genet Med 2020; 22:758.

      534 534. Allen EG, Sullivan AK, Marcus M, et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod 2007; 22:2142.

      535 535. Plug I, Mauser‐Bunschoten EP, Bröcker‐Vriends AHJT, et al. Bleeding in carriers of hemophilia. Blood 2006; 108:52.

      536 536. Konkle BA, Huston H, Fletcher SN. Hemophilia A. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, 2000 Sep 21 [updated 2017 Jun 22].

      537 537. Konkle BA, Huston H, Fletcher SN. Hemophilia B. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, 2000 Oct 2 [updated 2017 Jun 15].

      538 538. Balak DM, Gouw SC, Plug I, et al. Prenatal diagnosis for haemophilia: a nationwide survey among female carriers in the Netherlands. Haemophilia 2012; 18:584.

      539 539. Chuansumrit A, Sasanakul W, Promsonthi P, et al. Prenatal diagnosis for haemophilia: the Thai experience. Haemophilia 2016; 22:880.

      540 540. Kessler L, Adams R, Mighion L, et al. Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory. Haemophilia 2014; 20:e384.

      541 541. Chen M, Chang S‐P, Ma G‐C, et al. Preimplantation genetic diagnosis of hemophilia A. Thromb J 2016; 14(Suppl 1):33.

      542 542. Hudecova I, Jiang P, Davies J, et al. Noninvasive detection of F8 int22h‐related inversions and sequence variants in maternal plasma of hemophilia carriers. Blood 2017; 130:340.

      543 543. Antonarakis SE. Carrier screening for recessive disorders. Nat Rev Genet 2019; 20:549.

      544 544. Hogan GJ, Vysotskaia VS, Beauchamp KA, et al. Validation of an expanded carrier screen optimizes sensitivity via full‐exon sequencing and panel‐wide copy number variant identification. Clin Chem 2018; 64:1063.

      545 545. Hernandez‐Nieto C, Alkon‐Meadows T, Lee J, et al. Expanded carrier screening for preconception reproductive risk assessment: prevalence of carrier status in Mexican population. Prenat Diagn 2020; 40:635.

      546 546. Kraft S, Duenas D, Wilfond B, et al. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet Med 2019; 21:790.

      547 547. Franasiak J, Olcha M, Bergh P, et al. Expanded carrier screening in an infertile population: how often is clinical decision making affected? Genet Med 2016; 18:1097.

      548 548. Punj S, Akkari Y, Huang J, et al. Preconception carrier screening by genome sequencing: results from the clinical laboratory. Am J Hum Genet 2018; 102:1078.

      549 549. Peyser A, Singer T, Mullin C, et al. Comparing ethnicity‐based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates. Genet Med 2019; 21:1400.

      550 550. Haque IS, Lazarin GA, Kang HP, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA 2016; 316:734.

      551 551. Beauchamp K, Johansen Taber K, Muzzey D. Clinical impact and cost‐effectiveness of a 176‐condition expanded carrier screen. Genet Med 2019; 21:1948.

      552 552. Johansen Taber K, Beauchamp K, Lazarin G, et al. Clinical utility of expanded carrier screening: results‐guided actionability and outcomes. Genet Med 2019; 21:1041.

      553 553. Van der Hout S, Holtkamp K, Henneman L, et al. Advantages of expanded universal carrier screening: what is at stake? Eur J Hum Genet 2016; 25:17.

      554 554. Hogan GJ, Vysotskaia VS, Beauchamp KA, et al. Validation of an expanded carrier screen that optimizes sensitivity via full‐exon sequencing and panel‐wide copy number variant identification. Clin Chem 2018; 64:1063.

      555 555. King J, Klugman S. Ethnicity‐based carrier screening. Obstet Gynecol Clin North Am 2018; 45:83.

      556 556. Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants. Genet Med 2013; 15:178.

      557 557. Wilson RD, De Bie I, Armour CM, et al. Joint SOGC‐CCMG opinion for reproductive genetic carrier screening: an update for all Canadian providers of maternity and reproductive healthcare in the era of direct‐to‐consumer testing. J Obstet Gynaecol Can 2016; 38:742.e3.

      558 558. American College of Obstetricians and Gynecologists. Committee opinion no. 690: carrier screening in the age of genomic medicine. Obstet Gynecol 2017; 129:e35.

      559 559. Edwards JG, Feldman G, Goldberg J, et al. Expanded carrier screening in reproductive medicine – points to consider. Obstet Gynecol 2015; 125:653.

      560 560. Johansen Taber K, Beauchamp K, Lazarin G, et al. Clinical utility of expanded carrier screening: results‐guided actionability and outcomes. Genet Med 2019; 21:1041.

      561 561. Rabin R, Hirsch Y, Johansson MM, et al. Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases. Am J Med Genet A 2019; 179:2144.

      562 562. Akler G, Birch AH, Schreiber‐Agus N, et al. Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients. Mol Genet Genomic Med 2020; 8:e1053.

      563 563. Guo MH, Gregg AR. Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels. Genet Med 2019; 21(9):1940.

      564 564. Scott SA, Edelmann L, Liu L, et al. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 2010; 31:1240.

      565 565. Kaseniit KE, Haque IS, Goldberg JD, et al. Genetic ancestry analysis on >93,000 individuals


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