Published in Pediatrics on December 01, 2001
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22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol (2013) 1.00
22q11.2 deletion syndrome. Nat Rev Dis Prim (2015) 0.87
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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet (2000) 6.21
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Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol (1998) 3.86
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet (1992) 3.74
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Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature. Am J Med Genet (1988) 2.60
The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns (1999) 2.58
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet (1999) 2.57
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med (2001) 2.57
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet (2000) 2.53
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet (1993) 2.50
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr (1999) 2.38
The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr (1982) 2.21
Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. J Pediatr (1997) 2.13
GATA4 sequence variants in patients with congenital heart disease. J Med Genet (2007) 2.08
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet (2007) 1.88
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet (1996) 1.82
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
Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med (2001) 1.81
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). Am J Hum Genet (2000) 1.78
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet (2008) 1.77
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet (1995) 1.76
Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet (1973) 1.75
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
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet (1997) 1.71
The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. J Clin Exp Neuropsychol (2001) 1.70
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. Am J Med Genet (1990) 1.66
Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet (1995) 1.64
Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet (1976) 1.57
Serum alkaline phosphatase reflects post-Fontan hemodynamics in children. Pediatr Cardiol (2008) 1.56
The 22q11.2 deletion syndrome. Adv Pediatr (2001) 1.53
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet (1999) 1.50
Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. J Pediatr (1988) 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
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet (1986) 1.47
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet (1999) 1.46
Classical Noonan syndrome is not associated with deletions of 22q11. Am J Med Genet (1995) 1.41
Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet (1993) 1.40
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet (1999) 1.40
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. Am J Med Genet (1997) 1.39
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum (1997) 1.36
Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry (2011) 1.36
Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. J Pediatr (2000) 1.35
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test (1997) 1.33
Ankyloblepharon filiforme adnatum in trisomy 18. J Pediatr Ophthalmol Strabismus (1994) 1.31
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet (2009) 1.31
Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. J Pediatr (1994) 1.30
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol (1998) 1.29
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet (1997) 1.25
Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet (1994) 1.25
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet (2001) 1.24
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet (1995) 1.21
Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am J Med Genet (1988) 1.20
Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology (1995) 1.20
Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23. Am J Med Genet (1979) 1.16
Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet (1995) 1.16
Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet (1997) 1.16
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. J Med Genet (1993) 1.14
Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. Am J Hum Genet (1978) 1.10
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem (1996) 1.10
Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. J Pediatr (1982) 1.10
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet (1993) 1.09
Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet (1995) 1.09
The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. Am J Dis Child (1989) 1.09
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet (1994) 1.08
Familial partial trisomy of the long arm of chromosome 10 (q24-26). Pediatrics (1975) 1.07
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. Am J Med Genet (1991) 1.07
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet (1993) 1.06
Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. J Med Genet (1983) 1.06
Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia (2007) 1.06
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet (1989) 1.06
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet (2007) 1.06
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. Am J Med Genet (2001) 1.06
Osteoglophonic dwarfism in two generations. J Med Genet (1983) 1.06
Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6-year follow-up. Cancer (1995) 1.06
Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet (1999) 1.06
Patterns of right aortic arch and mirror-image branching of the brachiocephalic vessels without associated anomalies. Pediatr Cardiol (2001) 1.05
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. J Med Genet (2011) 1.05
Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics (1996) 1.05
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol (2010) 1.04
Recurrence rate for de novo 21q21q translocation Down syndrome: a study of 112 families. Am J Med Genet (1984) 1.03
Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet (1999) 1.03
Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol (1999) 1.03
Mutations in the human TWIST gene. Hum Mutat (2000) 1.01