Published in J Pediatr on August 01, 1982
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet (1993) 5.16
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet (1992) 3.73
Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr (2011) 2.57
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet (1988) 2.27
A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet (1992) 2.23
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet (1995) 2.19
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child (1991) 2.17
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J Med Genet (1991) 1.77
Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11). J Med Genet (1987) 1.57
DiGeorge syndrome: an historical review of clinical and cytogenetic features. J Med Genet (1993) 1.47
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Br Heart J (1991) 1.46
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev (2008) 1.44
Microdeletion syndromes, balanced translocations, and gene mapping. J Med Genet (1988) 1.22
Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. Am J Hum Genet (1996) 1.20
Molecular studies of DiGeorge syndrome. Am J Hum Genet (1990) 1.09
Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. Am J Hum Genet (1997) 1.08
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
Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Am J Hum Genet (1993) 1.02
Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J Clin Invest (1990) 1.02
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol (1998) 0.98
How many breaks do we need to CATCH on 22q11? Am J Hum Genet (1996) 0.96
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet (1996) 0.96
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Front Immunol (2013) 0.89
Gene mapping of mineral metabolic disorders. J Inherit Metab Dis (1989) 0.88
Developmental trajectories in 22q11.2 deletion. Am J Med Genet C Semin Med Genet (2015) 0.88
22q11.2 deletion syndrome. Nat Rev Dis Prim (2015) 0.87
Human chromosome 22. J Med Genet (1987) 0.86
Biogenesis and mechanism of action of small non-coding RNAs: insights from the point of view of structural biology. Int J Mol Sci (2012) 0.79
Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22. J Med Genet (1996) 0.76
Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies. J Pediatr Genet (2016) 0.75
22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization. Mol Syndromol (2015) 0.75
Otologic and audiologic findings in 22q11.2 deletion syndrome. Eur Arch Otorhinolaryngol (2016) 0.75
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet (2000) 6.21
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med (1999) 5.82
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet (1993) 5.16
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet (1993) 5.00
Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics (1993) 4.86
Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol (1998) 3.86
Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet (1992) 3.74
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet (1992) 3.73
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet (1994) 3.38
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet (1993) 3.11
Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell (1988) 2.71
A new face for an old syndrome. Am J Med Genet (1997) 2.64
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
Localization of gene for human p53 tumour antigen to band 17p13. Nature (1986) 2.56
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
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum Mol Genet (2000) 2.47
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr (1999) 2.38
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35
Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. J Pediatr (1997) 2.13
Peroxisomal bifunctional enzyme deficiency. J Clin Invest (1989) 2.11
A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics (1983) 2.09
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Hum Mol Genet (2001) 2.00
Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. J Pediatr (1988) 2.00
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet (1984) 1.95
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res (1983) 1.91
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet (2001) 1.88
An improved method for G-banding chromosomes after in situ hybridization. Cytogenet Cell Genet (1984) 1.88
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
Comparative behavior of ring chromosomes. Am J Hum Genet (1970) 1.87
Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet (1984) 1.86
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet (1991) 1.86
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet (2000) 1.84
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
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
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
Deregulation of c-myc by translocation of the alpha-locus of the T-cell receptor in T-cell leukemias. Science (1986) 1.75
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
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet (1991) 1.74
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun (1993) 1.74
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet (1997) 1.74
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
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet (1995) 1.68
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet (1995) 1.68
Chromosomal localization of the human elastin gene. Am J Hum Genet (1985) 1.68
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67
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
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 1.66
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. Am J Med Genet (1990) 1.66
Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome. J Pediatr (1986) 1.65
Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet (1995) 1.64
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet (2000) 1.63
Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet (1991) 1.62
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr (1990) 1.62
Pre- and postconception factors associated with sporadic heritable and nonheritable retinoblastoma. Cancer Res (1989) 1.61
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet (2000) 1.61
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. Hum Mol Genet (2001) 1.60
Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. Am J Med Genet (1983) 1.58
Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet (1976) 1.57
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet (1997) 1.56
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet (1996) 1.56
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. N Engl J Med (1984) 1.56
A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia. Proc Natl Acad Sci U S A (1984) 1.55
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet (2001) 1.55
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
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
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet (1995) 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
Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. J Pediatr (1988) 1.48