Published in Pediatrics on April 01, 1978
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Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet (1989) 2.56
Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors. Am J Hum Genet (1987) 2.06
Recombination within and between the human insulin and beta-globin gene loci. Proc Natl Acad Sci U S A (1983) 1.82
Congenital anomalies and childhood cancer in Great Britain. Am J Hum Genet (1997) 1.69
WT1 and glomerular diseases. Pediatr Nephrol (2006) 1.68
Isolation, characterization, and expression of the murine Wilms' tumor gene (WT1) during kidney development. Mol Cell Biol (1991) 1.63
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet (1995) 1.51
Evidence for WT1 as a Wilms tumor (WT) gene: intragenic germinal deletion in bilateral WT. Am J Hum Genet (1991) 1.39
The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1. Genes Dev (2002) 1.38
c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p. Am J Hum Genet (1984) 1.37
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet (1994) 1.29
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A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J Med Genet (1997) 1.25
Chromosome assignments of four mouse cellular homologs of sarcoma and leukemia virus oncogenes. Proc Natl Acad Sci U S A (1984) 1.23
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. Proc Natl Acad Sci U S A (1985) 1.22
Microdeletion syndromes, balanced translocations, and gene mapping. J Med Genet (1988) 1.22
A marker for neoplastic progression of human melanocytes is a cell surface ectopeptidase. J Exp Med (1993) 1.13
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. Proc Natl Acad Sci U S A (1987) 1.11
Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor. Am J Hum Genet (1987) 1.10
Parental origin of de novo constitutional deletions of chromosomal band 11p13. Am J Hum Genet (1990) 1.10
Molecular studies of DiGeorge syndrome. Am J Hum Genet (1990) 1.09
Fine structure analysis of the WT1 gene in sporadic Wilms tumors. Proc Natl Acad Sci U S A (1994) 1.08
Identification of a provirally activated c-Ha-ras oncogene in an avian nephroblastoma via a novel procedure: cDNA cloning of a chimaeric viral-host transcript. EMBO J (1986) 1.06
Isolation of a human repetitive sequence and its application to regional chromosome mapping. Proc Natl Acad Sci U S A (1982) 1.05
The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations. Eur J Pediatr (2011) 1.04
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Constitutional ring chromosomes and tumour suppressor genes. J Med Genet (1992) 0.99
Human chromosome 11 contains two different growth suppressor genes for embryonal rhabdomyosarcoma. Proc Natl Acad Sci U S A (1992) 0.98
Expression of the 11p13 Wilms' tumor gene, WT1, correlates with histologic category of Wilms' tumor. Am J Pathol (1992) 0.98
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Wilms's tumour and aniridia: clinical and cytogenetic features. Arch Dis Child (1982) 0.91
Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2. Proc Natl Acad Sci U S A (1980) 0.90
Restriction fragment length polymorphism studies show consistent loss of chromosome 3p alleles in small cell lung cancer patients' tumors. J Clin Invest (1988) 0.90
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Wilms' tumor protein Wt1 is an activator of the anti-Müllerian hormone receptor gene Amhr2. Mol Cell Biol (2007) 0.87
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Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A. Am J Hum Genet (1985) 0.86
Blastemal cells of nephroblastomatosis complex share an onco-developmental antigen with embryonic kidney and Wilms' tumor. An immunohistochemical study on polysialic acid distribution. Am J Pathol (1988) 0.85
A probable case of the homozygous condition of the aniridia gene. J Med Genet (1980) 0.84
Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones. Proc Natl Acad Sci U S A (1990) 0.83
Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypes. Genetics (2009) 0.83
The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene. PLoS Genet (2017) 0.82
18q-syndrome and extraskeletal Ewing's sarcoma. J Med Genet (1987) 0.81
A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice. Genetics (2006) 0.81
Uniparental disomy occurs infrequently in Wilms tumor patients. Am J Hum Genet (1994) 0.80
The use of subchromosome-length unique band sequences in the analysis of prophase chromosomes. Am J Hum Genet (1988) 0.80
Aniridia and mental retardation with deletion of the short arm of chromosome 11. Trans Am Ophthalmol Soc (1981) 0.79
Analysis of wilms tumors using SNP mapping array-based comparative genomic hybridization. PLoS One (2011) 0.79
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Assessment of PAX6 alleles in 66 families with aniridia. Clin Genet (2016) 0.77
Loss of heterozygosity at 11p13 in Wilms' tumours does not necessarily involve mutations in the WT1 gene. Br J Cancer (1993) 0.77
Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome. Am J Hum Genet (1986) 0.77
Umbilical cord blood transplantation. Arch Dis Child (1999) 0.75
Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013. PLoS One (2017) 0.75
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. Arch Dis Child (1981) 0.75
2012 William Allan Award: Adventures in cytogenetics. Am J Hum Genet (2013) 0.75
Flecked retina associated with ring 17 chromosome. Br J Ophthalmol (1991) 0.75
Dysgerminoma developing from an ectopic ovary in a patient with WAGR syndrome: A case report. Mol Clin Oncol (2016) 0.75
The French Wilms' tumour study: no clear evidence for cancer prone families. J Med Genet (1994) 0.75
Tumor-suppressor genes: cardinal factors in inherited predisposition to human cancers. Environ Health Perspect (1992) 0.75
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The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor. Am J Hum Genet (1985) 0.75
A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor. Pediatr Nephrol (2008) 0.75
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Science (1985) 9.12
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Von Recklinghausen neurofibromatosis. N Engl J Med (1981) 7.69
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J (1987) 7.32
Effect on the duration of mechanical ventilation of identifying patients capable of breathing spontaneously. N Engl J Med (1996) 6.79
Population genetic structure of variable drug response. Nat Genet (2001) 6.35
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell (1996) 5.67
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med (1981) 4.25
Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. Cancer Res (1985) 4.17
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell (1994) 4.04
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test (1999) 3.42
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. Nature (1987) 3.33
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. EMBO J (1988) 3.26
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
Involvement of the sympathetic nervous system in tetanus. Studies on 82 cases. Lancet (1968) 3.18
Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Hum Genet (1978) 3.13
Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet (1986) 3.12
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A (1982) 3.11
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
A system of nomenclature for band patterns of mouse chromosomes. Chromosoma (1973) 2.87
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet (1984) 2.82
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
Radiologic determination of intravascular volume status using portable, digital chest radiography: a prospective investigation in 100 patients. Crit Care Med (2001) 2.78
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem (1991) 2.70
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res (1987) 2.57
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
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor. J Exp Med (1993) 2.49
Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Somat Cell Mol Genet (1987) 2.48
Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet (1972) 2.45
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am J Hum Genet (1982) 2.44
Neurofibromatosis: clinical heterogeneity. Curr Probl Cancer (1982) 2.43
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42
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Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron (2001) 2.29
A regular pattern of two types of 100-residue motif in the sequence of titin. Nature (1990) 2.29
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. Genomics (1997) 2.28
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet (1991) 2.26
Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. J Exp Med (1995) 2.24
Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. Genomics (1988) 2.21
Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics (1988) 2.20
Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. EMBO J (1986) 2.19
Conservation of autosomal gene synteny groups in mouse and man. Nature (1978) 2.18
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet (1979) 2.18
N-terminal domains of the human telomerase catalytic subunit required for enzyme activity in vivo. Mol Cell Biol (2001) 2.16
A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet (1998) 2.16
Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med (1988) 2.16
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. Proc Natl Acad Sci U S A (1997) 2.15
Controlled trial of repeated halothane anaesthetics in patients with carcinoma of the uterine cervix treated with radium. Lancet (1975) 2.15
The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter. Hum Genet (1981) 2.14
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Mol Cell Biol (1998) 2.13
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. Genomics (1988) 2.12
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells. Immunity (1998) 2.11
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.08
Temperature regulation in survivors of accidental hypothermia of the elderly. Lancet (1967) 2.03
Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14. Am J Hum Genet (1982) 2.03
The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer. Cell (1997) 2.02
Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev (2001) 1.99
Treatment of sympathetic overactivity in tetanus. Lancet (1969) 1.98
Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. Cytogenet Cell Genet (1977) 1.98
Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor. Nature (1984) 1.97
Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet (1994) 1.97
A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12. Proc Natl Acad Sci U S A (1991) 1.97
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science (1984) 1.96
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.94
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NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity. J Biol Chem (1995) 1.91
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet (1998) 1.90
Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc Natl Acad Sci U S A (1984) 1.86
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci U S A (1986) 1.84
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet (1997) 1.84
Developmental and transformation-sensitive expression of the Sparc gene on mouse chromosome 11. EMBO J (1986) 1.83
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet (1988) 1.80
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The structural gene for the M1 subunit of ribonucleotide reductase maps to chromosome 11, band p15, in human and to chromosome 7 in mouse. Exp Cell Res (1988) 1.80
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Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet (2000) 1.76
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Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. Science (1981) 1.70
Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen leads to 14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocation. Somatic Cell Genet (1976) 1.68
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