SAU WAI CHEUNG to Chromosomes, Human, X
This is a "connection" page, showing publications SAU WAI CHEUNG has written about Chromosomes, Human, X.
Connection Strength
2.062
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Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Med Genet. 2015 Mar 14; 16:12.
Score: 0.434
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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011 Dec; 48(12):840-50.
Score: 0.342
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Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? Am J Med Genet A. 2010 Jul; 152A(7):1832-7.
Score: 0.313
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168.
Score: 0.150
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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS One. 2017; 12(4):e0175962.
Score: 0.125
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Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. Clin Genet. 2011 Jun; 79(6):531-8.
Score: 0.083
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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: 0.082
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MECP2 duplications in six patients with complex sex chromosome rearrangements. Eur J Hum Genet. 2011 Apr; 19(4):409-15.
Score: 0.081
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Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia. Am J Med Genet A. 2010 Jun; 152A(6):1588-90.
Score: 0.078
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Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. Am J Med Genet A. 2010 Feb; 152A(2):453-8.
Score: 0.076
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Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 Nov 24; 205(12):2711-6.
Score: 0.070
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Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 05; 147B(6):799-806.
Score: 0.069
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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65.
Score: 0.063
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017 12; 217(6):691.e1-691.e6.
Score: 0.032
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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Hum Mol Genet. 2015 Dec 20; 24(25):7171-81.
Score: 0.028
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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med. 2011 May; 13(5):447-52.
Score: 0.021
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.015