염색체마이크로어레이 검사에서 이형접합부재의 임상적 유용성과 보고

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참고문헌 (72)

1. Miller DT, "Consensus statement : chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies", Am J Hum Genet, 86, pp.749~764 (2010)
2. Kearney HM, "Diagnostic implications of excessive homozygosity detected by SNP-based microarrays : consanguinity, uniparental disomy, and recessive single-gene mutations", Clin Lab Med, 31, pp.595~613 (2011)
3. Hillman SC, "Use of prenatal chromosomal microarray : prospective cohort study and systematic review and meta-analysis", Ultrasound Obstet Gynecol, 41, pp.610~620 (2013)
4. Kirin M, "Genomic runs of homozygosity record population history and consanguinity", PLoS One, 5, pp.e13996~ (2010)
5. Rehder CW, "American College of Medical Genetics and Genomics : standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing", Genet Med, 15, pp.150~152 (2013)
6. Papenhausen P, "UPD detection using homozygosity profiling with a SNP genotyping microarray", Am J Med Genet A, 155, pp.757~768 (2011)
7. Engel E, "A new genetic concept : uniparental disomy and its potential effect, isodisomy", Am J Med Genet, 6, pp.137~143 (1980)
8. Spence JE, "Uniparental disomy as a mechanism for human genetic disease", Am J Hum Genet, 42, pp.217~226 (1988)
9. Benn P, "Uniparental disomy : origin, frequency, and clinical significance", Prenat Diagn, 41, pp.564~572 (2021)
10. Hoppman N, "Patterns of homozygosity in patients with uniparental disomy : detection rate and suggested reporting thresholds for SNP microarrays", Genet Med, 20, pp.1522~1527 (2018)
11. Takahashi KK, "Frequent somatic gene conversion as a mechanism for loss of heterozygosity in tumor suppressor genes", Genome Res, 32, pp.1017~1025 (2022)
12. Papenhausen PR, "Clinical significance and mechanisms associated with segmental UPD", Mol Cytogenet, 14, pp.38~ (2021)
13. Ledbetter DH, "Uniparental disomy in humans : development of an imprinting map and its implications for prenatal diagnosis", Hum Mol Genet, 4(S1), pp.1757~1764 (1995)
14. Matsubara K, "De Novo small supernumerary marker chromosomes arising from partial trisomy rescue", Front Genet, 11, pp.132~ (2020)
15. Del Gaudio D, "Diagnostic testing for uniparental disomy : a points to consider statement from the American College of Medical Genetics and Genomics(ACMG)", Genet Med, 22, pp.1133~1141 (2020)
16. Robinson WP, "Mechanisms leading to uniparental disomy and their clinical consequences", Bioessays, 22, pp.452~459 (2000)
17. Nakka P, "Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population", Am J Hum Genet, 105, pp.921~932 (2019)
18. Sasaki K, "Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations", Gene, 512, pp.267~274 (2013)
19. Campbell H, "Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits", Hum Mol Genet, 16, pp.233~241 (2007)
20. Yamazawa K, "Uniparental disomy and human disease : an overview", Am J Med Genet C Semin Med Genet, 154C, pp.329~334 (2010)
21. Ku CS, "Regions of homozygosity and their impact on complex diseases and traits", Hum Genet, 129, pp.1~15 (2011)
22. Lapunzina P, "The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer", Biol Cell, 103, pp.303~317 (2011)
23. Wang JC, "Regions of homozygosity identified by oligonucleotide SNP arrays : evaluating the incidence and clinical utility", Eur J Hum Genet, 23, pp.663~671 (2015)
24. Wang Y, "Systematic analysis of copy-number variations associated with early pregnancy loss", Ultrasound Obstet Gynecol, 55, pp.96~104 (2020)
25. Schaaf CP, "Identification of incestuous parental relationships by SNP-based DNA microarrays", Lancet, 377, pp.555~556 (2011)
26. Niida Y, "Classification of uniparental isodisomy patterns that cause autosomal recessive disorders : proposed mechanisms of different proportions and parental origin in each pattern", Cytogenet Genome Res, 154, pp.137~146 (2018)
27. Muthusamy K, "Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy : case report and review of autosomal recessive conditions unmasked by UPD", Am J Med Genet A, 182, pp.2442~2449 (2020)
28. King JE, "Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis : a clinical report", J Genet Couns, 23, pp.734~741 (2014)
29. Ferrier RA, "Father-to-son transmission of an X-linked gene : a case of paternal sex chromosome heterodisomy", Am J Med Genet A, 149A, pp.2871~2873 (2009)
30. Matsubara K, "Uniparental disomy as a cause of pediatric endocrine disorders", Clin Pediatr Endocrinol, 27, pp.113~121 (2018)
31. Temple IK, "An imprinted gene(s)for diabetes?", Nat Genet, 9, pp.110~112 (1995)
32. Kamiya M, "The cell cycle control gene ZAC", PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes, 2000, pp.9, 453~460
33. Price SM, "The spectrum of Silver-Russell syndrome : a clinical and molecular genetic study and new diagnostic criteria", J Med Genet, 36, pp.837~842 (1999)
34. Su J, "Mosaic UPD(7q)mat in a patient with silver Russell syndrome", Mol Cytogenet, 10, pp.36~ (2017)
35. Choufani S, "Beckwith-Wiedemann syndrome", Am J Med Genet C Semin Med Genet, 154C, pp.343~354 (2010)
36. Slatter RE, "Mosaic uniparental disomy in Beckwith-Wiedemann syndrome", J Med Genet, 31, pp.749~753 (1994)
37. Luk HM, "Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis", Am J Med Genet A, 170, pp.1938~1941 (2016)
38. Bullman H, "Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome", J Med Genet, 45, pp.396~399 (2008)
39. Ioannides Y, "Temple syndrome : improving the recognition of an underdiagnosed chromosome 14 imprinting disorder : an analysis of 51 published cases", J Med Genet, 51, pp.495~501 (2014)
40. Sanlaville D, "Maternal uniparental heterodisomy of chromosome 14 : chromosomal mechanism and clinical follow up", J Med Genet, 37, pp.525~528 (2000)
41. Kagami M, "Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions(Kagami-Ogata syndrome)", Eur J Hum Genet, 23, pp.1488~1498 (2015)
42. Cassidy SB, "Prader-Willi syndrome", Genet Med, 14, pp.10~26 (2012)
43. Fridman C, "Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome", Am J Med Genet, 94, pp.249~253 (2000)
44. Buiting K, "Prader-Willi syndrome and Angelman syndrome", Am J Med Genet C Semin Med Genet, 154C, pp.365~376 (2010)
45. Poyatos D, "Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15", J Med Genet, 39, pp.E4~ (2002)
46. Dixit A, "Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q", J Clin Endocrinol Metab, 98, pp.E103~E108 (2013)
47. Mulchandani S, "Maternal uniparental disomy of chromosome 20 : a novel imprinting disorder of growth failure", Genet Med, 18, pp.309~315 (2016)
48. Kawashima S, "Maternal uniparental disomy for chromosome 20 : physical and endocrinological characteristics of five patients", J Clin Endocrinol Metab, 103, pp.2083~2088 (2018)
49. Yip MY, "Uniparental disomy in Robertsonian translocations : strategies for uniparental disomy testing", Transl Pediatr, 3, pp.98~107 (2014)
50. Berend SA, "Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes", Am J Hum Genet, 66, pp.1787~1793 (2000)
51. Silverstein S, "Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations : risk estimate", Prenat Diagn, 22, pp.649~651 (2002)
52. Liehr T, "Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes", Cytogenet Genome Res, 139, pp.158~163 (2013)
53. Behnecke A, "Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)", Clin Genet, 82, pp.494~498 (2012)
54. Eggermann T, "Mosaicism and uniparental disomy in prenatal diagnosis", Trends Mol Med, 21, pp.77~87 (2015)
55. Benn P, "Rare autosomal trisomies : comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples", Ultrasound Obstet Gynecol, 54, pp.458~467 (2019)
56. Christian SL, "Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism", Prenat Diagn, 16, pp.323~332 (1996)
57. "Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD: European Collaborative Research on Mosaicism in CVS (EUCROMIC)", Prenat Diagn, 19, pp.29~35 (1999)
58. Robinson WP, "Cytogenetic and age-dependent risk factors associated with uniparental disomy 15", Prenat Diagn, 16, pp.837~844 (1996)
59. Schouten JP, "Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification", Nucleic Acids Res, 30, pp.e57~ (2002)
60. Magi A, "H3M2 : detection of runs of homozygosity from whole-exome sequencing data", Bioinformatics, 30, pp.2852~2859 (2014)
61. King DA, "A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders", Genome Res, 24, pp.673~687 (2014)
62. Shaffer LG, "American College of Medical Genetics statement of diagnostic testing for uniparental disomy", Genet Med, 3, pp.206~211 (2001)
63. Oniya O, "A review of the reproductive consequences of consanguinity", Eur J Obstet Gynecol Reprod Biol, 232, pp.87~96 (2019)
64. Carothers AD, "Estimating human inbreeding coefficients : comparison of genealogical and marker heterozygosity approaches", Ann Hum Genet, 70, pp.666~676 (2006)
65. Sund KL, "Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships", Genet Med, 15, pp.70~78 (2013)
66. Gonzales PR, "Interpretation and reporting of large regions of homozygosity and suspected consanguinity", uniparental disomy, 2021 revision : a technical standard of the American College of Medical Genetics and Genomics(ACMG), 2022, pp.24, 255~261
67. Pemberton TJ, "Genomic patterns of homozygosity in worldwide human populations", Am J Hum Genet, 91, pp.275~292 (2012)
68. Wang JC, "Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis : results from 5026 pregnancies", Prenat Diagn, 39, pp.137~156 (2019)
69. Delgado F, "Single-nucleotide polymorphism arrays and unexpected consanguinity : considerations for clinicians when returning results to families", Genet Med, 17, pp.400~404 (2015)
70. Grote L, "Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing", Genet Med, 14, pp.971~976 (2012)
71. Grote L, "Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness", Am J Med Genet A, 164A, pp.87~98 (2014)
72. Burgess AW, "How many red fiags does it take?", Am J Nurs, 107, pp.28~31 (2007)

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