SAU WAI CHEUNG to Adult
This is a "connection" page, showing publications SAU WAI CHEUNG has written about Adult.
Connection Strength
0.442
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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: 0.026
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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.
Score: 0.024
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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. J Med Genet. 2012 Nov; 49(11):681-8.
Score: 0.022
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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet. 2012 Aug 10; 13:71.
Score: 0.021
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Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec; 20(12):1240-7.
Score: 0.021
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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: 0.020
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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: 0.018
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Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. 2009 Jul; 76(1):54-62.
Score: 0.017
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 01; 146A(17):2242-51.
Score: 0.016
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41.
Score: 0.015
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A retrospective study of preimplantation embryos diagnosed with monosomy by fluorescence in situ hybridization (FISH). Cytogenet Genome Res. 2006; 114(3-4):359-66.
Score: 0.014
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Clinical significance and association with pregnancy outcome of positive non-invasive prenatal screening for trisomy 15 in singleton pregnancy: prospective cohort study, systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2026 03; 67(3):283-294.
Score: 0.013
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Confirmation of paternal disomy in a twin molar pregnancy. A case report. J Reprod Med. 2000 Jan; 45(1):39-41.
Score: 0.009
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Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage. Am J Hum Genet. 2019 12 05; 105(6):1102-1111.
Score: 0.009
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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genet Med. 2019 05; 21(5):1058-1064.
Score: 0.008
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Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018 08; 298(2):289-295.
Score: 0.008
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Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15. Am J Med Genet. 1997 Oct 03; 72(1):47-50.
Score: 0.008
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Contralateral breast cancer: incidence according to ductal or lobular phenotype of the primary. Clin Radiol. 2016 Feb; 71(2):159-63.
Score: 0.007
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Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene. Hum Genet. 2015 Nov; 134(11-12):1163-82.
Score: 0.007
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A de novo 1.58?Mb deletion, including MAP2K6 and mapping 1.28?Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. Am J Med Genet A. 2015 Aug; 167A(8):1842-50.
Score: 0.007
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Conservative management of aortic arch injury following penetrating trauma. Ann R Coll Surg Engl. 2015 Apr; 97(3):184-7.
Score: 0.006
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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet. 2014 Sep; 22(9):1071-6.
Score: 0.006
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CYP2B6-G516T genotype influences plasma efavirenz concentration in a Hong Kong population, allowing potential individualization of therapy. HIV Med. 2014 Jan; 15(1):63-4.
Score: 0.006
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SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7.
Score: 0.006
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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013 Dec; 161A(12):2953-63.
Score: 0.006
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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Hum Mutat. 2013 Oct; 34(10):1415-23.
Score: 0.006
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Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet. 2012 Dec; 131(12):1895-910.
Score: 0.005
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Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61.
Score: 0.005
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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 Sep; 155A(9):2071-7.
Score: 0.005
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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: 0.005
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Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab. 2011 Apr; 96(4):E674-9.
Score: 0.005
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Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
Score: 0.005
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Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding. Prenat Diagn. 1990 Nov; 10(11):717-24.
Score: 0.005
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan; 19(1):102-7.
Score: 0.005
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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: 0.005
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Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures. Clin Genet. 2011 Aug; 80(2):191-5.
Score: 0.005
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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: 0.005
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Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men. J Urol. 2010 Apr; 183(4):1636-42.
Score: 0.005
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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009 Dec; 41(12):1269-71.
Score: 0.004
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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet. 2009 Jun 01; 18(11):1924-36.
Score: 0.004
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8.
Score: 0.004
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39.
Score: 0.004
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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet. 2009 Sep; 46(9):626-34.
Score: 0.004
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
Score: 0.004
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Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14. Prenat Diagn. 1988 Nov; 8(9):677-82.
Score: 0.004
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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75.
Score: 0.004
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First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial. Prenat Diagn. 1988 Jun; 8(5):355-66.
Score: 0.004
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Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med. 2008 Jan; 10(1):13-8.
Score: 0.004
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Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn. 2007 Dec; 27(12):1112-7.
Score: 0.004
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Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug; 122(1):63-70.
Score: 0.004
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Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn. 2005 Dec; 25(13):1188-91.
Score: 0.003
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Antenatal ultrasound findings in fetal triploidy syndrome. J Ultrasound Med. 1985 Oct; 4(10):519-24.
Score: 0.003
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Ciprofloxacin in the management of pulmonary tuberculosis in the face of hepatic dysfunction. Drugs Exp Clin Res. 1995; 21(2):79-83.
Score: 0.002
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Ofloxacin penetration into tuberculous pleural effusion. Antimicrob Agents Chemother. 1991 Oct; 35(10):2159-60.
Score: 0.001
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Variance of plasma free and esterified cholesterol in adult twins. Am J Hum Genet. 1976 Mar; 28(2):174-8.
Score: 0.000