Published in Cytogenet Cell Genet on January 01, 1977
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Characterization of a new human diploid cell strain, IMR-90. Science (1977) 3.89
Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol (1998) 3.86
Translocation of an immunoglobulin kappa locus to a region 3' of an unrearranged c-myc oncogene enhances c-myc transcription. Proc Natl Acad Sci U S A (1983) 3.75
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet (1992) 3.74
Definition of a continuous human cell line derived from neuroblastoma. Cancer Res (1970) 3.15
"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency? J Med Genet (1994) 2.69
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
Involvement of C group chromosomes in five Burkitt lymphoma cell lines. J Natl Cancer Inst (1967) 2.49
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr (1999) 2.38
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The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr (1982) 2.21
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Cultivation in vitro of cells derived from a human osteosarcoma. Cancer (1971) 2.06
An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. Cytogenet Cell Genet (1980) 1.89
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
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Growth factor requirements of childhood acute leukemia: establishment of GM-CSF-dependent cell lines. Blood (1987) 1.77
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
Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. Proc Natl Acad Sci U S A (2001) 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
Medical applications of dust-free rooms. I. Elimination of airborne bacteria in a research laboratory. Am J Public Health Nations Health (1967) 1.66
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
A major human histone gene cluster on the long arm of chromosome 1. Science (1984) 1.59
Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet (1976) 1.57
Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject. Proc Natl Acad Sci U S A (1967) 1.54
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
Circulating myeloid and lymphoid precursor dendritic cells are clonally involved in myelodysplastic syndromes. Leukemia (2004) 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
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science (1977) 1.44
C-group chromosome marker in long-term leukocyte cultures. J Natl Cancer Inst (1968) 1.43
Oral premedication for operations on the face under local anesthesia: a placebo-controlled double-blind trial. Plast Reconstr Surg (2001) 1.43
A biochemical genetic view of human cell culture. Adv Hum Genet (1971) 1.43
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
Medical applications of dust-free rooms. II. Elimination of airborne bacteria from an operating theater. JAMA (1968) 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
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
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
A familial syndrome of renal, genital, and middle ear anomalies. J Pediatr (1968) 1.27
Experimental infection of a cat kidney cell line with the mouse mammary tumor virus. Cancer Res (1976) 1.27
Human amniotic membrane as a physiologic wound dressing. Arch Surg (1974) 1.26
Biohazard hood to prevent infection during microbiological procedures. Appl Microbiol (1968) 1.26
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
NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2. Genomics (1993) 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
Medical applications of dust-free rooms. 3. Use in an animal care laboratory. Appl Microbiol (1969) 1.23
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
Electron Microscopy of Bacterium tularense. J Bacteriol (1946) 1.19
Infection by air-borne bacteria with cardiopulmonary bypass. Surgery (1971) 1.18
Mosaic mongolism. II. Cytogenic studies. J Pediatr (1970) 1.17
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
An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent. J Lab Clin Med (1965) 1.14
Detection of anaerobic mycoplasmas in cell cultures. In Vitro (1973) 1.14
Galactose-1-phosphate uridyltransferase and galactokinase activity in cultured human diploid fibroblasts and peripheral blood leukocytes. I. Analysis of transferase genotypes by the ratio of the activities of the two enzymes. J Clin Invest (1969) 1.14
Galactokinase: evidence for a new racial polymorphism. Science (1972) 1.14
Procedures to reduce contamination of cell cultures. In Vitro (1972) 1.12
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
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet (1999) 1.07
Familial partial trisomy of the long arm of chromosome 10 (q24-26). Pediatrics (1975) 1.07