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For: Rowe LR, Lee JY, Rector L, Kaminsky EB, Brothman AR, Martin CL, South ST. U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet. 2009;46:694-702. [PMID: 19293169 DOI: 10.1136/jmg.2008.065052] [Cited by in Crossref: 53] [Cited by in F6Publishing: 45] [Article Influence: 4.1] [Reference Citation Analysis]
Number Citing Articles
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2 Xiao B, Ye X, Wang L, Fan Y, Gu X, Ji X, Sun Y, Yu Y. Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients. Front Genet 2020;11:616. [PMID: 32733533 DOI: 10.3389/fgene.2020.00616] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
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6 Kato T, Inagaki H, Miyai S, Suzuki F, Naru Y, Shinkai Y, Kato A, Kanyama K, Mizuno S, Muramatsu Y, Yamamoto T, Shinya M, Tazaki Y, Hiwatashi S, Ikeda T, Ozaki M, Kurahashi H. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications. Hum Genet 2020;139:1417-27. [PMID: 32488466 DOI: 10.1007/s00439-020-02186-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
7 Yamamoto T, Shimada S, Shimojima K. Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications. World J Med Genet 2013; 3(2): 5-8 [DOI: 10.5496/wjmg.v3.i2.5] [Reference Citation Analysis]
8 Knijnenburg J, Uytdewilligen ME, van Hassel DA, Oostenbrink R, Eussen BH, de Klein A, Brooks AS, van Zutven LJ. Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity. European Journal of Medical Genetics 2017;60:445-50. [DOI: 10.1016/j.ejmg.2017.06.003] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
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10 Pedurupillay C, Misceo D, Gamage T, Dissanayake V, Frengen E. Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay. Gene 2014;533:403-10. [DOI: 10.1016/j.gene.2013.09.090] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
11 Rittinger O, Krabichler B, Kronberger G, Kotzot D. Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype. Eur J Med Genet 2015;58:603-7. [PMID: 26417856 DOI: 10.1016/j.ejmg.2015.09.011] [Reference Citation Analysis]
12 Torti EE, Braddock SR, Bernreuter K, Batanian JR. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement. Am J Med Genet A 2013;161A:1992-8. [PMID: 23894059 DOI: 10.1002/ajmg.a.35918] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 1.4] [Reference Citation Analysis]
13 Kibe T, Mori Y, Okanishi T, Shimojima K, Yokochi K, Yamamoto T. Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale. Am J Med Genet A. 2011;155A:215-220. [PMID: 21204235 DOI: 10.1002/ajmg.a.33786] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 1.2] [Reference Citation Analysis]
14 Rodríguez L, Nevado J, Vallespin E, Palomares M, Golmayo L, Bonaglia MC, Delicado A, Abarca E. Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation. Am J Med Genet A 2011;155A:915-9. [PMID: 21412979 DOI: 10.1002/ajmg.a.33924] [Cited by in Crossref: 3] [Article Influence: 0.3] [Reference Citation Analysis]
15 Lee N, Chang S, Chang C, Chen C, Lee D, Lin C, Hwu W, Chen M. Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding. Prenat Diagn 2009;29:1058-60. [DOI: 10.1002/pd.2332] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
16 Park CH, Kim HJ, Lee ST, Seo JM, Kim SH. Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter. Gene 2014;537:343-7. [PMID: 24393711 DOI: 10.1016/j.gene.2013.12.056] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
17 Schlade-Bartusiak K, Tucker T, Safavi H, Livingston J, van Allen MI, Eydoux P, Armstrong L. Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p. Eur J Med Genet 2013;56:229-35. [PMID: 23416622 DOI: 10.1016/j.ejmg.2013.01.013] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
18 Shi S, Lin S, Chen B, Zhou Y. Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders. Mol Med Rep 2017;16:6837-45. [PMID: 28901431 DOI: 10.3892/mmr.2017.7438] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
19 Catusi I, Garzo M, Capra AP, Briuglia S, Baldo C, Canevini MP, Cantone R, Elia F, Forzano F, Galesi O, Grosso E, Malacarne M, Peron A, Romano C, Saccani M, Larizza L, Recalcati MP. 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature. Genes (Basel) 2021;12:652. [PMID: 33925474 DOI: 10.3390/genes12050652] [Reference Citation Analysis]
20 Tirado CA, Henderson S, Uddin N, Stewart E, Iyer S, Ratner IM, Matthews E, Doolittle J, Garcia R, Valdez F, Dallaire S, Appleberry T, Payne D, Collins R. Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter. Am J Med Genet 2009;149A:2507-12. [DOI: 10.1002/ajmg.a.33080] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.2] [Reference Citation Analysis]
21 Usui D, Shimada S, Shimojima K, Sugawara M, Kawasaki H, Shigematu H, Takahashi Y, Inoue Y, Imai K, Yamamoto T. Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior. Am J Med Genet A. 2013;161A:1078-1084. [PMID: 23463730 DOI: 10.1002/ajmg.a.35679] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 1.9] [Reference Citation Analysis]
22 Bi W, Cheung S, Breman AM, Bacino CA. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet 2016;170:2540-50. [DOI: 10.1002/ajmg.a.37796] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 2.5] [Reference Citation Analysis]
23 Cullot G, Boutin J, Toutain J, Prat F, Pennamen P, Rooryck C, Teichmann M, Rousseau E, Lamrissi-Garcia I, Guyonnet-Duperat V, Bibeyran A, Lalanne M, Prouzet-Mauléon V, Turcq B, Ged C, Blouin JM, Richard E, Dabernat S, Moreau-Gaudry F, Bedel A. CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations. Nat Commun 2019;10:1136. [PMID: 30850590 DOI: 10.1038/s41467-019-09006-2] [Cited by in Crossref: 111] [Cited by in F6Publishing: 92] [Article Influence: 37.0] [Reference Citation Analysis]
24 van Binsbergen E, Hochstenbach R, Giltay J, Swinkels M. Unstable transmission of a familial complex chromosome rearrangement. Am J Med Genet 2012;158A:2888-93. [DOI: 10.1002/ajmg.a.35580] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 0.8] [Reference Citation Analysis]
25 Izzo A, Genesio R, Ronga V, Nocera V, Marullo L, Cicatiello R, Sglavo G, Paladini D, Conti A, Nitsch L. 40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features. Eur J Med Genet 2012;55:140-4. [PMID: 22269966 DOI: 10.1016/j.ejmg.2011.12.004] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
26 Li P, Pomianowski P, DiMaio MS, Florio JR, Rossi MR, Xiang B, Xu F, Yang H, Geng Q, Xie J, Mahoney MJ. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. Am J Med Genet A 2011;155A:1605-15. [PMID: 21671377 DOI: 10.1002/ajmg.a.34043] [Cited by in Crossref: 19] [Cited by in F6Publishing: 19] [Article Influence: 1.7] [Reference Citation Analysis]
27 Zhu J, Qi H, Cao S, Cai L, Wen X, Tang G, Wan Q, Chen C, Wang J, Zeng W, Luo Y. Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman. Mol Genet Genomic Med 2019;7:e868. [PMID: 31317671 DOI: 10.1002/mgg3.868] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
28 Recalcati MP, Valtorta E, Romitti L, Giardino D, Manfredini E, Vaccari R, Larizza L, Finelli P. Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits. European Journal of Medical Genetics 2010;53:186-91. [DOI: 10.1016/j.ejmg.2010.04.002] [Cited by in Crossref: 12] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
29 Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. De novo unbalanced translocations have a complex history/aetiology. Hum Genet 2018;137:817-29. [DOI: 10.1007/s00439-018-1941-9] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
30 Yanagishita T, Imaizumi T, Yamamoto-Shimojima K, Yano T, Okamoto N, Nagata S, Yamamoto T. Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern. Hum Mutat 2020;41:2119-27. [PMID: 32906213 DOI: 10.1002/humu.24108] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
31 Pristyazhnyuk IE, Menzorov AG. Ring chromosomes: from formation to clinical potential. Protoplasma 2018;255:439-49. [PMID: 28894962 DOI: 10.1007/s00709-017-1165-1] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 2.8] [Reference Citation Analysis]
32 Nik-Zainal S, Cotter PE, Willatt LR, Abbott K, O'Brien EW. Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male. Eur J Med Genet 2011;54:97-101. [PMID: 20933620 DOI: 10.1016/j.ejmg.2010.09.014] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
33 Milosevic J, El Khattabi L, Roubergue A, Coussement A, Doummar D, Cuisset L, Le Tessier D, Flageul B, Viot G, Lebbar A, Dupont JM. Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation. Am J Med Genet A 2014;164A:3180-6. [PMID: 25257167 DOI: 10.1002/ajmg.a.36777] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
34 Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F. Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation. Am J Med Genet A 2014;164A:2504-9. [PMID: 24975584 DOI: 10.1002/ajmg.a.36658] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
35 Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am J Med Genet 2013;161:822-8. [DOI: 10.1002/ajmg.a.35699] [Cited by in Crossref: 12] [Cited by in F6Publishing: 14] [Article Influence: 1.3] [Reference Citation Analysis]
36 Chai H, Grommisch B, DiAdamo A, Wen J, Hui P, Li P. Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion. Mol Genet Genomic Med 2019;7:e00965. [PMID: 31478360 DOI: 10.1002/mgg3.965] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
37 Capkova P, Misovicova N, Vrbicka D. Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2014;158:321-5. [PMID: 24145769 DOI: 10.5507/bp.2013.077] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 1.8] [Reference Citation Analysis]
38 Barra V, Fachinetti D. The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA. Nat Commun 2018;9:4340. [PMID: 30337534 DOI: 10.1038/s41467-018-06545-y] [Cited by in Crossref: 82] [Cited by in F6Publishing: 65] [Article Influence: 20.5] [Reference Citation Analysis]
39 Nikitina TV, Kashevarova AA, Gridina MM, Lopatkina ME, Khabarova AA, Yakovleva YS, Menzorov AG, Minina YA, Pristyazhnyuk IE, Vasilyev SA, Fedotov DA, Serov OL, Lebedev IN. Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming. Sci Rep 2021;11:4325. [PMID: 33619287 DOI: 10.1038/s41598-021-83399-3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
40 Redaelli S, Conconi D, Sala E, Villa N, Crosti F, Roversi G, Catusi I, Valtorta C, Recalcati MP, Dalprà L, Lavitrano M, Bentivegna A. Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region. IJMS 2022;23:3347. [DOI: 10.3390/ijms23063347] [Reference Citation Analysis]
41 Piccione M, Salzano E, Vecchio D, Ferrara D, Malacarne M, Pierluigi M, Ferrara I, Corsello G. 4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization. Eur J Paediatr Neurol 2015;19:477-83. [PMID: 25769226 DOI: 10.1016/j.ejpn.2015.02.002] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
42 Xing Y, Holder JL Jr, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L. Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet 2018;298:289-95. [PMID: 29808250 DOI: 10.1007/s00404-018-4798-1] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
43 Yiu M, Qi Z, Ki A, Yu J. Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not? Mol Cytogenet 2015;8:53. [PMID: 26213575 DOI: 10.1186/s13039-015-0160-5] [Reference Citation Analysis]
44 Riley JD, Stefaniuk CM, Erenberg F, Erwin AL, Palange L, Astbury C. Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features. Case Rep Genet 2019;2019:5384295. [PMID: 31428485 DOI: 10.1155/2019/5384295] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
45 Kowalczyk M, Tomaszewska A, Podbioł-Palenta A, Constantinou M, Wawrzkiewicz-Witkowska A, Kowalski J, Kałużewski B, Zajączek S, Srebniak MI. Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH. Cytogenet Genome Res 2013;139:9-16. [PMID: 22965227 DOI: 10.1159/000342165] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.3] [Reference Citation Analysis]
46 Córdova-Fletes C, Sáinz-González E, Avendaño-Gálvez RI, Ramírez-Velazco A, Rivera H, Ortiz-López R, Arámbula-Meraz E, Picos-Cárdenas VJ. De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes. J Genet 2014;93:869-73. [PMID: 25572250 DOI: 10.1007/s12041-014-0459-8] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
47 Tabet AC, Verloes A, Pilorge M, Delaby E, Delorme R, Nygren G, Devillard F, Gérard M, Passemard S, Héron D, Siffroi JP, Jacquette A, Delahaye A, Perrin L, Dupont C, Aboura A, Bitoun P, Coleman M, Leboyer M, Gillberg C, Benzacken B, Betancur C. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder. Mol Autism 2015;6:19. [PMID: 25844147 DOI: 10.1186/s13229-015-0015-2] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 2.7] [Reference Citation Analysis]
48 Cai M, Lin N, Su L, Wu X, Xie X, Li Y, Lin Y, Huang H, Xu L. Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array. Mol Biol Rep 2020;47:7529-35. [PMID: 32935260 DOI: 10.1007/s11033-020-05815-7] [Reference Citation Analysis]
49 Orru S, Papoulidis I, Siomou E, Papadimitriou DT, Sotiriou S, Nikolaidis P, Eleftheriades M, Papanikolaou E, Thomaidis L, Manolakos E. Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report. Biomed Rep 2019;1:1-5. [PMID: 31258897 DOI: 10.3892/br.2019.1210] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
50 Wang Y, Cheng Q, Meng L, Luo C, Hu H, Zhang J, Cheng J, Xu T, Jiang T, Liang D, Hu P, Xu Z. Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study: Clinical application of SNP array analysis in first-trimester pregnancy loss. Clin Genet 2017;91:849-58. [DOI: 10.1111/cge.12926] [Cited by in Crossref: 38] [Cited by in F6Publishing: 36] [Article Influence: 6.3] [Reference Citation Analysis]
51 Akopyan HR, Kushniruk VO, Mykytenko DO, Huleuk NL, Kremenskaya Y, Lukash LL. Chromosomal DNA balance in human stem cell line 4BL. Cytol Genet 2016;50:257-66. [DOI: 10.3103/s0095452716040022] [Reference Citation Analysis]
52 Xiao B, Ji X, Xing Y, Jiang WT, Zhang JM, Tao J. Inverted Duplication and Deletion of 10q25q26 in a Patient without Any Obvious Skeletal Anomalies. Mol Syndromol 2012;3:185-9. [PMID: 23239961 DOI: 10.1159/000343047] [Reference Citation Analysis]