PAWEL STANKIEWICZ to Gene Rearrangement
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Gene Rearrangement.
Connection Strength
1.708
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Microdeletion and microduplication syndromes. Methods Mol Biol. 2012; 838:29-75.
Score: 0.296
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Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul; 153B(5):983-93.
Score: 0.267
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2005 Dec; 1(6):e49.
Score: 0.194
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Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits. Cold Spring Harb Symp Quant Biol. 2003; 68:445-54.
Score: 0.159
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Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002 Feb; 18(2):74-82.
Score: 0.149
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Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 Apr 02; 96(4):555-64.
Score: 0.093
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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics. 2012 Nov; 13(4):333-9.
Score: 0.077
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Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement. Neuro Oncol. 2012 Jul; 14(7):831-40.
Score: 0.076
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.070
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HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A. 2010 Nov; 152A(11):2854-60.
Score: 0.068
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
Score: 0.064
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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203.
Score: 0.061
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Deciphering the complexity of simple chromosomal insertions by genome sequencing. Hum Genet. 2021 Feb; 140(2):361-380.
Score: 0.034
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77.
Score: 0.023
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Inverted low-copy repeats and genome instability--a genome-wide analysis. Hum Mutat. 2013 Jan; 34(1):210-20.
Score: 0.020
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Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec; 53(6):378-82.
Score: 0.017
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A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet. 2010 Feb; 18(2):258-61.
Score: 0.016
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006 Jul 15; 15(14):2250-65.
Score: 0.013
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[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]. Med Wieku Rozwoj. 2006 Jan-Mar; 10(1 Pt 2):227-46.
Score: 0.012