Published in Am J Hum Genet on February 01, 1998
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Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet (1995) 2.70
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Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet (1993) 2.50
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Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet (1980) 1.82
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A 14;18 and an 8;14 chromosome translocation in a cell line derived from an acute B-cell leukemia. Proc Natl Acad Sci U S A (1984) 1.79
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Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet (1993) 1.75
Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol (2001) 1.75
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet (1999) 1.71
Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet (1998) 1.70
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Chromosomal localization of the human elastin gene. Am J Hum Genet (1985) 1.68
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Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet (1995) 1.67
Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. Nat Genet (2001) 1.66
Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet (1995) 1.64
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Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet (1995) 1.55
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet Med (2001) 1.49
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. Am J Med Genet (1994) 1.49
Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2. Genomics (1992) 1.49
Amplified C lambda and c-abl genes are on the same marker chromosome in K562 leukemia cells. Proc Natl Acad Sci U S A (1983) 1.48
Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. Am J Med Genet (1991) 1.48
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Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet (1999) 1.46
MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum Mutat (2006) 1.45
Prenatal diagnosis of the 22q11 deletion syndrome. Prenat Diagn (1997) 1.43
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t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes. Proc Natl Acad Sci U S A (1998) 1.41
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Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13. Proc Natl Acad Sci U S A (1987) 1.41
Classical Noonan syndrome is not associated with deletions of 22q11. Am J Med Genet (1995) 1.41
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet (1999) 1.40
Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat (2008) 1.39
Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J Hum Genet (1994) 1.39
States' use of transfer of custody as a requirement for providing services to emotionally disturbed children. Hosp Community Psychiatry (1991) 1.39
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