Published in Am J Med Genet on April 01, 1993
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet (2006) 0.79
Cytogenetic and Clinical Features in Children Suspected With Congenital Abnormalities in 1 Medical Center of Zhejiang Province From 2011 to 2014. Medicine (Baltimore) (2015) 0.77
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet (2000) 6.21
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet (1993) 5.16
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
Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg (1996) 3.51
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet (1993) 3.11
Frequent expression of a mutant epidermal growth factor receptor in multiple human tumors. Cancer Res (1995) 3.04
Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res (1994) 3.02
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
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
A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. Proc Natl Acad Sci U S A (1995) 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
A robust xenotransplantation model for acute myeloid leukemia. Leukemia (2009) 1.67
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
Lack of germline transmission of vector sequences following systemic administration of recombinant AAV-2 vector in males. Mol Ther (2001) 1.61
Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet (1976) 1.57
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
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
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
TrkC expression predicts good clinical outcome in primitive neuroectodermal brain tumors. J Clin Oncol (2000) 1.38
In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. Hum Mol Genet (1996) 1.37
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
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
Molecular genetic analysis of familial neuroblastoma. Eur J Cancer (1997) 1.23
Structural chromosomal abnormalities in human medulloblastoma. Cancer Genet Cytogenet (1988) 1.22
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet (2009) 1.21
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
Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA (1995) 1.21
EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations. J Clin Invest (1994) 1.20
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
Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol (2006) 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
Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. Am J Surg Pathol (1999) 1.12
Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res (1996) 1.11
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
ECK, a human EPH-related gene, maps to 1p36.1, a common region of alteration in human cancers. Genomics (1997) 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
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
Familial partial trisomy of the long arm of chromosome 10 (q24-26). Pediatrics (1975) 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
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet (1989) 1.06
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. Am J Med Genet (2001) 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
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
Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma. Genes Chromosomes Cancer (1991) 1.05