Published in Am J Hum Genet on February 01, 1999
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
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A method for accurate detection of genomic microdeletions using real-time quantitative PCR. BMC Genomics (2005) 2.04
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Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function. J Neurosci (2008) 1.84
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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet (2009) 1.07
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet (2009) 1.04
Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion. Am J Hum Genet (1999) 0.99
Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. Clin Immunol (2013) 0.96
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Mol Cytogenet (2012) 0.96
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. Hum Genet (2004) 0.93
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. Mol Syndromol (2011) 0.87
Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR. BMC Med Genet (2014) 0.87
Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum. Eur J Med Genet (2008) 0.84
22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review. Mol Syndromol (2011) 0.81
The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology. Biomed Res Int (2016) 0.75
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Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
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First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet (2001) 1.34
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Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome. J Med Genet (2003) 1.10
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet (2008) 1.10
Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature. Cytogenet Genome Res (2007) 1.09
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An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet (1987) 1.02
A family with Huntington disease and reciprocal translocation 4;5. Am J Hum Genet (1986) 1.02
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet (1998) 1.00
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A familial mutation in the testis-determining gene SRY shared by both sexes. Hum Genet (1992) 1.00
Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet (1996) 1.00
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Functional imaging of vocal fold vibration: digital multislice high-speed kymography. J Voice (2000) 0.98
Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome. Arch Ophthalmol (1999) 0.98
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Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet (1998) 0.96
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Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review. Horm Res (2005) 0.96
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Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients. J Med Genet (2004) 0.94
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