Published in Am J Med Genet on May 01, 1986
Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet (2006) 1.83
Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet (1994) 1.82
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet (2012) 1.61
Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor. Am J Hum Genet (1987) 1.10
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Prostate cancer in a transgenic mouse. Proc Natl Acad Sci U S A (1995) 8.16
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet (1993) 7.97
Von Recklinghausen neurofibromatosis. N Engl J Med (1981) 7.69
Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science (2001) 7.17
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med (1999) 5.82
Impaired energy homeostasis in C/EBP alpha knockout mice. Science (1995) 5.68
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron (1998) 4.92
Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics (1993) 4.86
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet (1997) 4.65
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med (1990) 4.60
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med (1981) 4.25
Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet (1988) 4.21
The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features. J Infect Dis (1985) 4.08
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet (1994) 4.04
Metastatic prostate cancer in a transgenic mouse. Cancer Res (1996) 4.02
Sequential contribution of L- and P-selectin to leukocyte rolling in vivo. J Exp Med (1995) 3.83
Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
Inflammatory and immune responses are impaired in mice deficient in intercellular adhesion molecule 1. Proc Natl Acad Sci U S A (1993) 3.57
Alpha-inhibin is a tumour-suppressor gene with gonadal specificity in mice. Nature (1992) 3.54
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet (1997) 3.32
Ulcerative colitis and adenocarcinoma of the colon in G alpha i2-deficient mice. Nat Genet (1995) 3.29
ASHG activities relative to education: Human genetics as a component of medical school curricula: A report to the American society of human genetics. Am J Hum Genet (1988) 3.24
Immunization of pregnant women with a polysaccharide vaccine of group B streptococcus. N Engl J Med (1988) 3.14
The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet (1990) 3.07
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
Infectious susceptibility and severe deficiency of leukocyte rolling and recruitment in E-selectin and P-selectin double mutant mice. J Exp Med (1996) 3.04
Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents. J Neurosci (1997) 2.87
Spontaneous skin ulceration and defective T cell function in CD18 null mice. J Exp Med (1998) 2.81
LFA-1 is sufficient in mediating neutrophil emigration in Mac-1-deficient mice. J Clin Invest (1997) 2.71
8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase. Genetics (1972) 2.71
Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity. Nat Genet (1998) 2.65
Decreased resistance to bacterial infection and granulocyte defects in IAP-deficient mice. Science (1996) 2.55
Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease. J Biol Chem (1975) 2.55
Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc Natl Acad Sci U S A (1990) 2.52
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am J Hum Genet (1982) 2.44
CCAAT/enhancer binding protein alpha regulates p21 protein and hepatocyte proliferation in newborn mice. Mol Cell Biol (1997) 2.44
Neurofibromatosis: clinical heterogeneity. Curr Probl Cancer (1982) 2.43
Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons. Proc Natl Acad Sci U S A (1999) 2.41
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35
P-Selectin or intercellular adhesion molecule (ICAM)-1 deficiency substantially protects against atherosclerosis in apolipoprotein E-deficient mice. J Exp Med (2000) 2.32
Gene targeting yields a CD18-mutant mouse for study of inflammation. J Immunol (1993) 2.32
DNA sequences similar to those of simian virus 40 in ependymomas and choroid plexus tumors of childhood. N Engl J Med (1992) 2.28
Transit time of leukocytes rolling through venules controls cytokine-induced inflammatory cell recruitment in vivo. J Clin Invest (1998) 2.28
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron (1999) 2.25
The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr (1982) 2.21
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet (1979) 2.18
Androgen-independent prostate cancer progression in the TRAMP model. Cancer Res (1997) 2.16
Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet (1988) 2.13
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet (2009) 2.13
Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. J Neurosci (1999) 2.12
A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics (1983) 2.09
Neutrophil emigration in the skin, lungs, and peritoneum: different requirements for CD11/CD18 revealed by CD18-deficient mice. J Exp Med (1997) 2.08
Value of the postmortem examination in a pediatric population with leukemia. J Pediatr (1990) 2.06
A minimal role for selectins in the recruitment of leukocytes into the inflamed liver microvasculature. J Clin Invest (1997) 2.04
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
P-selectin/ICAM-1 double mutant mice: acute emigration of neutrophils into the peritoneum is completely absent but is normal into pulmonary alveoli. J Clin Invest (1995) 2.02
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet (1984) 1.95
Methods for analysis of multiple cystic fibrosis mutations. Hum Genet (1991) 1.88
International, collaborative experience of 1789 patients having multifetal pregnancy reduction: a plateauing of risks and outcomes. J Soc Gynecol Investig (1996) 1.87
Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet (1984) 1.86
Müllerian-inhibiting substance function during mammalian sexual development. Cell (1994) 1.85
Absence of trauma-induced leukocyte rolling in mice deficient in both P-selectin and intercellular adhesion molecule 1. J Exp Med (1996) 1.85
Peptide chain termination with mammalian release factor. Proc Natl Acad Sci U S A (1970) 1.82
Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor. Proc Natl Acad Sci U S A (1999) 1.81
An E. coli beta-galactosidase cassette suitable for study of eukaryotic expression. Nucleic Acids Res (1986) 1.81
Hepatitis B virus transactivator X protein is not tumorigenic in transgenic mice. J Virol (1990) 1.80
Mammalian peptide chain termination. II. Codon specificity and GTPase activity of release factor. Proc Natl Acad Sci U S A (1971) 1.79
Mutations affecting the structure of hypoxanthine: guanine phosphoribosyltransferase in cultured Chinese hamster cells. Proc Natl Acad Sci U S A (1973) 1.78
Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet (2000) 1.76
Deficiency of inflammatory cell adhesion molecules protects against atherosclerosis in mice. Arterioscler Thromb Vasc Biol (1997) 1.75
Genetic analysis of the Müllerian-inhibiting substance signal transduction pathway in mammalian sexual differentiation. Genes Dev (1996) 1.75
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet (1997) 1.74
Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet (1984) 1.73
Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice. J Clin Invest (1989) 1.72
Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3. J Biol Chem (2001) 1.72
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet (1996) 1.70
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr (1986) 1.70
Randomized comparison of cisplatin/vincristine/fluorouracil and cisplatin/continuous infusion doxorubicin for treatment of pediatric hepatoblastoma: A report from the Children's Cancer Group and the Pediatric Oncology Group. J Clin Oncol (2000) 1.70
Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. Science (1981) 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 of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line. J Biol Chem (1981) 1.68
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67
Benign missense variations in the cystic fibrosis gene. Am J Hum Genet (1990) 1.67
Hydrolysis of fMet-tRNA by peptidyl transferase. Proc Natl Acad Sci U S A (1971) 1.67
High doses of a helper-dependent adenoviral vector yield supraphysiological levels of alpha1-antitrypsin with negligible toxicity. Hum Gene Ther (1998) 1.67
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 1.66
Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome. J Pediatr (1986) 1.65
Report of the Task Force on Teaching Human Genetics in North American Medical Schools. Am J Hum Genet (1989) 1.65
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
Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum Mol Genet (1999) 1.61
The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations. Am J Med Genet (1984) 1.60
Fetal blood sampling demonstrating chimerism in monozygotic twins discordant for sex and tissue karyotype (46,XY and 45,X) Prenat Diagn (1990) 1.60
Development of cancer cachexia-like syndrome and adrenal tumors in inhibin-deficient mice. Proc Natl Acad Sci U S A (1994) 1.60
Sonographic estimation of fetal weight. The value of femur length in addition to head and abdomen measurements. Radiology (1984) 1.60
Pneumonic plague in monkeys. An electron microscopic study. Am J Pathol (1969) 1.60
Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing. Mol Cell Biol (1984) 1.58
Cyclin-dependent kinase inhibitor expression in pulmonary Clara cells transformed with SV40 large T antigen in transgenic mice. Cell Growth Differ (1997) 1.57
Increased sensitivity to the hepatocarcinogen diethylnitrosamine in transgenic mice carrying the hepatitis B virus X gene. Mol Carcinog (1996) 1.56
Extraintestinal rotavirus infections in children with immunodeficiency. J Pediatr (1992) 1.56