Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

PubWeight™: 0.85‹?›

🔗 View Article (PMC 1918415)

Published in Am J Hum Genet on September 01, 1994

Authors

L Boghosian-Sell1, R Mewar, W Harrison, R M Shapiro, E H Zackai, J Carey, L Davis-Keppen, L Hudgins, J Overhauser

Author Affiliations

1: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107.

Articles cited by this

Clinical and chromosomal studies of the 18q- syndrome. J Pediatr (1971) 1.69

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. Am J Hum Genet (1992) 1.51

Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. J Pediatr (1988) 1.48

Specificity versus nonspecificity in the pathogenesis of aneuploid phenotypes. Am J Med Genet (1988) 1.46

Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet (1993) 1.40

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet (1994) 1.16

Somatic cell hybrid deletion map of human chromosome 18. Genomics (1992) 1.15

Trisomy 18q-. Trisomy mapping of chromosome 18 revisited. Clin Genet (1980) 1.03

Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet (1977) 0.96

Trisomy 18q. A case report and review of karyotype-phenotype correlations. Hum Genet (1981) 0.96

The crucial band for phenotype of trisomy 18. Hum Genet (1982) 0.94

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18. Am J Hum Genet (1993) 0.92

Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18. J Med Genet (1976) 0.90

Clinical management considerations in long-term survivors with trisomy 18. Pediatrics (1990) 0.90

Late hydrocephalus after arrest and resolution of neonatal post-hemorrhagic hydrocephalus. Dev Med Child Neurol (1990) 0.89

Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies. J Med Genet (1980) 0.86

The 18p- syndrome. Report of five cases. Ann Genet (1989) 0.85

Karyotype/phenotype controversy: genetic and molecular implications of alternative hypotheses. Am J Med Genet (1990) 0.85

Partial trisomy 18q in a newborn with typical 18 trisomy phenotype. Hum Genet (1978) 0.84

Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype. Hum Genet (1979) 0.83

Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11). Hum Hered (1990) 0.81

The pathogenesis of aneuploid phenotypes: the fallacy of explanatory reductionism. Am J Med Genet (1989) 0.80

Articles by these authors

Quality of Life Enjoyment and Satisfaction Questionnaire: a new measure. Psychopharmacol Bull (1993) 7.03

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

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science (1987) 5.11

Non-function of a Moloney murine leukaemia virus regulatory sequence in F9 embryonal carcinoma cells. Nature (1984) 4.52

Maintenance phase efficacy of sertraline for chronic depression: a randomized controlled trial. JAMA (1998) 4.48

Sequence-specific interaction of R17 coat protein with its ribonucleic acid binding site. Biochemistry (1983) 4.09

Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers. Nat Genet (1996) 4.09

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

Interaction of R17 coat protein with its RNA binding site for translational repression. J Biomol Struct Dyn (1983) 3.20

A self-administered screener for migraine in primary care: The ID Migraine validation study. Neurology (2003) 3.14

Gel retardation. Methods Enzymol (1991) 3.11

Symptomatic improvement of premenstrual dysphoric disorder with sertraline treatment. A randomized controlled trial. Sertraline Premenstrual Dysphoric Collaborative Study Group. JAMA (1997) 3.08

Identification of 28 DNA fragments that detect RFLPs in 13 distinct physical regions of the short arm of chromosome 5. Nucleic Acids Res (1987) 2.72

Insulin receptor phosphorylation, insulin receptor substrate-1 phosphorylation, and phosphatidylinositol 3-kinase activity are decreased in intact skeletal muscle strips from obese subjects. J Clin Invest (1995) 2.66

Tandem binding in crystals of a trp repressor/operator half-site complex. Nature (1993) 2.65

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

Transformation properties of type 5 adenovirus mutants that differentially express the E1A gene products. Proc Natl Acad Sci U S A (1984) 2.39

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr (1999) 2.38

A microsatellite genetic linkage map of human chromosome 18. Genomics (1993) 2.35

Interaction of R17 coat protein with synthetic variants of its ribonucleic acid binding site. Biochemistry (1983) 2.30

A randomized trial comparing fluconazole with clotrimazole troches for the prevention of fungal infections in patients with advanced human immunodeficiency virus infection. NIAID AIDS Clinical Trials Group. N Engl J Med (1995) 2.29

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet (1996) 2.29

The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr (1982) 2.21

Maspin acts at the cell membrane to inhibit invasion and motility of mammary and prostatic cancer cells. Proc Natl Acad Sci U S A (1996) 2.20

Kabuki syndrome: a review. Clin Genet (2005) 2.19

Sequence of an HLA-DR alpha-chain cDNA clone and intron-exon organization of the corresponding gene. Nature (1982) 2.18

Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. J Pediatr (1997) 2.13

Management of heparin therapy: Controlled prospective trial. N Engl J Med (1975) 2.07

Kinetic and thermodynamic characterization of the R17 coat protein-ribonucleic acid interaction. Biochemistry (1983) 2.07

Heterogeneity of clinical response during placebo treatment. Am J Psychiatry (1991) 2.06

Photosynthetic and phylogenetic primers for detection of anoxygenic phototrophs in natural environments. Appl Environ Microbiol (2001) 1.93

A comparison of whole-body turboSTIR MR imaging and planar 99mTc-methylene diphosphonate scintigraphy in the examination of patients with suspected skeletal metastases. AJR Am J Roentgenol (1997) 1.92

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

Sequences related to HLA-DR alpha chain on human chromosome 6: restriction enzyme polymorphism detected with DC alpha chain probes. Proc Natl Acad Sci U S A (1983) 1.85

CD5-mediated negative regulation of antigen receptor-induced growth signals in B-1 B cells. Science (1996) 1.84

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. Nat Genet (1998) 1.83

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet (1996) 1.82

Contribution of meniscal extrusion and cartilage loss to joint space narrowing in osteoarthritis. Clin Radiol (1999) 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

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

Genetic analysis of NF1: identification of close flanking markers on chromosome 17. Genomics (1987) 1.73

A placebo-controlled, randomized clinical trial comparing sertraline and imipramine for the treatment of dysthymia. Arch Gen Psychiatry (1996) 1.71

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet (1999) 1.71

Tightly linked markers for the neurofibromatosis type 1 gene. Genomics (1987) 1.68

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 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

Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature (1990) 1.64

Translation activates the paused transcription complex and restores transcription of the trp operon leader region. Proc Natl Acad Sci U S A (1985) 1.59

Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet (1986) 1.59

White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder? AJNR Am J Neuroradiol (1997) 1.58

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet (1976) 1.57

Human exonuclease I interacts with the mismatch repair protein hMSH2. Cancer Res (1998) 1.53

Recombinant human erythropoietin in the treatment of anemia associated with human immunodeficiency virus (HIV) infection and zidovudine therapy. Overview of four clinical trials. Ann Intern Med (1992) 1.53

Gender differences in chronic major and double depression. J Affect Disord (2000) 1.53

The 22q11.2 deletion syndrome. Adv Pediatr (2001) 1.53

Solution structure of the DNA-binding domain and model for the complex of multifunctional hexameric arginine repressor with DNA. Nat Struct Biol (1997) 1.52

Double-blind comparison of sertraline, imipramine, and placebo in the treatment of dysthymia: effects on personality. Am J Psychiatry (2000) 1.52

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet (1999) 1.50

Sclerosing sweat duct carcinoma of the eyelid margin: unusual presentation of a rare tumor. Ophthalmology (1999) 1.49

Daily Record of Severity of Problems (DRSP): reliability and validity. Arch Womens Ment Health (2005) 1.49

Use of pattern analysis to identify true drug response. A replication. Arch Gen Psychiatry (1987) 1.48

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

Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics (2000) 1.47

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

Growth charts for cri-du-chat syndrome: an international collaborative study. Am J Med Genet (2000) 1.43

Two highly homologous putative DNA-binding proteins in yeast and E. coli. Trends Biochem Sci (1994) 1.41

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

Imipramine treatment of alcoholism with comorbid depression. Am J Psychiatry (1993) 1.40

The inclusion of women in psychopharmacologic trials. J Clin Psychopharmacol (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

Different types of placebo response in patients receiving antidepressants. Am J Psychiatry (1991) 1.40

Treating osteoporosis: do bisphosphonates really increase the risk of osteonecrosis of the jaw? Ir Med J (2008) 1.39

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

Karyotype/phenotype correlations in duplication 4q: evidence for a critical region within 4q27-28 for preaxial defects. Am J Med Genet A (2005) 1.38

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum (1997) 1.36

Enumeration of byssochlamys and other heat-resistant molds. Appl Microbiol (1970) 1.36

Ordered self-assembly of polypeptide fragments to form nativelike dimeric trp repressor. Science (1992) 1.36

Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. J Pediatr (2000) 1.35

A fine structure physical map of the short arm of chromosome 5. Am J Hum Genet (1986) 1.35

Human sympathetic ophthalmia. An analysis of the inflammatory infiltrate by hybridoma-monoclonal antibodies, immunochemistry, and correlative electron microscopy. Ophthalmology (1983) 1.35

Smaller neuron size in schizophrenia in hippocampal subfields that mediate cortical-hippocampal interactions. Am J Psychiatry (1995) 1.34

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test (1997) 1.33