SAU WAI CHEUNG to Chromosome Deletion
This is a "connection" page, showing publications SAU WAI CHEUNG has written about Chromosome Deletion.
Connection Strength
5.792
-
Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2737-41.
Score: 0.393
-
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Med Genet. 2015 Mar 14; 16:12.
Score: 0.385
-
A child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1962-6.
Score: 0.314
-
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet. 2012 Feb; 20(2):176-9.
Score: 0.303
-
Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.286
-
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep; 12(9):573-86.
Score: 0.281
-
Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. 2009 Jul; 76(1):54-62.
Score: 0.259
-
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 2009 May; 17(5):573-81.
Score: 0.249
-
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet. 2007 Nov; 72(5):411-9.
Score: 0.230
-
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: 0.133
-
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genet Med. 2019 05; 21(5):1058-1064.
Score: 0.123
-
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 10; 170(10):2540-50.
Score: 0.105
-
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
Score: 0.090
-
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: 0.087
-
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: 0.086
-
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. Am J Med Genet A. 2013 Apr; 161A(4):841-4.
Score: 0.084
-
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: 0.081
-
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29; 44(6):639-41.
Score: 0.079
-
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: 0.076
-
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: 0.071
-
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. J Med Genet. 2010 Nov; 47(11):777-81.
Score: 0.071
-
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: 0.069
-
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A. 2010 May; 152A(5):1111-26.
Score: 0.069
-
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. Am J Med Genet A. 2010 Mar; 152A(3):732-6.
Score: 0.068
-
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81.
Score: 0.068
-
OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010 Feb; 152A(2):504-11.
Score: 0.068
-
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009 Dec; 41(12):1269-71.
Score: 0.066
-
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
Score: 0.066
-
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77.
Score: 0.065
-
A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder. Am J Med Genet A. 2009 Aug; 149A(8):1758-62.
Score: 0.065
-
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33.
Score: 0.065
-
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602.
Score: 0.065
-
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: 0.064
-
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet A. 2009 Mar; 149A(3):396-402.
Score: 0.063
-
15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization. Am J Med Genet A. 2008 Aug 01; 146A(15):1933-41.
Score: 0.061
-
De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). Am J Med Genet A. 2008 Aug 01; 146A(15):1986-93.
Score: 0.061
-
Delineation of the proximal 3q microdeletion syndrome. Am J Med Genet A. 2008 Jul 01; 146A(13):1729-35.
Score: 0.060
-
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008 Jun; 40(6):719-21.
Score: 0.060
-
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood. 2008 Aug 15; 112(4):1042-7.
Score: 0.060
-
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21.
Score: 0.058
-
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: 0.058
-
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet A. 2007 Nov 15; 143A(22):2738-43.
Score: 0.058
-
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
Score: 0.057
-
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet A. 2007 Aug 15; 143A(16):1885-9.
Score: 0.057
-
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: 0.056
-
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A. 2007 Apr 15; 143A(8):791-8.
Score: 0.056
-
WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. Am J Med Genet A. 2006 Jun 01; 140(11):1214-8.
Score: 0.052
-
Congenital diaphragmatic hernia in WAGR syndrome. Am J Med Genet A. 2005 May 01; 134(4):430-3.
Score: 0.049
-
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35.
Score: 0.048
-
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36.
Score: 0.046
-
Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. Neurology. 2017 10 24; 89(17):e205-e209.
Score: 0.029
-
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75.
Score: 0.024
-
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet. 2014 Nov 06; 95(5):565-78.
Score: 0.023
-
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9(9):e107028.
Score: 0.023
-
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.
Score: 0.021
-
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: 0.020
-
VACTERL association and mitochondrial dysfunction. Birth Defects Res A Clin Mol Teratol. 2011 Mar; 91(3):192-4.
Score: 0.018
-
Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab. 2011 Apr; 96(4):E674-9.
Score: 0.018
-
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8.
Score: 0.018
-
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: 0.018
-
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: 0.017
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.017