Published in Humangenetik on January 01, 1972
'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations. J Med Genet (1977) 1.09
Multiple congenital defects associated with trisomy for the short arm of chromosome 4. J Med Genet (1974) 0.88
Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies. J Med Genet (1980) 0.86
DNA binding of the glucocorticoid receptor is not essential for survival. Cell (1998) 6.40
Cooperativity of glucocorticoid response elements located far upstream of the tyrosine aminotransferase gene. Cell (1987) 6.12
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
The micronucleus test. Mutat Res (1975) 3.53
Targeted disruption of the glucocorticoid receptor gene blocks adrenergic chromaffin cell development and severely retards lung maturation. Genes Dev (1995) 3.41
In vivo protein-DNA interactions in a glucocorticoid response element require the presence of the hormone. Nature (1987) 3.39
Synergistic action of the glucocorticoid receptor with transcription factors. EMBO J (1988) 3.34
Glucocorticoid responsiveness of the transcriptional enhancer of Moloney murine sarcoma virus. Cell (1986) 3.31
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet (1978) 3.20
Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. Am J Med Genet (1980) 3.18
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet (1994) 2.85
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Telomeres: a diagnosis at the end of the chromosomes. J Med Genet (2003) 2.52
A chromosomal deletion map of human malformations. Am J Hum Genet (1998) 2.50
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet (1995) 2.34
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet (1991) 2.25
Targeted mutation of the CREB gene: compensation within the CREB/ATF family of transcription factors. Proc Natl Acad Sci U S A (1994) 2.24
Phosphorylation of CREB affects its binding to high and low affinity sites: implications for cAMP induced gene transcription. EMBO J (1992) 2.23
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Characterization of the supernumerary chromosome in cat eye syndrome. Science (1986) 2.19
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet (1997) 2.17
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans. Am J Hum Genet (1999) 2.15
A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. Proc Natl Acad Sci U S A (1998) 1.90
Glucocorticoid induction of the rat tryptophan oxygenase gene is mediated by two widely separated glucocorticoid-responsive elements. EMBO J (1987) 1.87
Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet (1993) 1.82
Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? Am J Med Genet (1987) 1.80
CREB is activated by UVC through a p38/HOG-1-dependent protein kinase. EMBO J (1997) 1.78
Isolation and characterization of the rat tyrosine aminotransferase gene. Proc Natl Acad Sci U S A (1984) 1.77
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet (1994) 1.76
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70
Isolation of cDNA clones coding for rat tyrosine aminotransferase. Proc Natl Acad Sci U S A (1982) 1.65
Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol (1995) 1.62
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet (1992) 1.57
Maternal uniparental disomy 7--review and further delineation of the phenotype. Eur J Pediatr (2000) 1.56
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet (2008) 1.56
The acrocallosal syndrome in sisters. Clin Genet (1986) 1.55
Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet (1999) 1.51
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet (1996) 1.50
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet (1993) 1.49
Targeting of the CREB gene leads to up-regulation of a novel CREB mRNA isoform. EMBO J (1996) 1.47
[Trisomy-21 screening using AFPplus in the eastern part of Switzerland]. Schweiz Med Wochenschr (1995) 1.46
ACE inhibition improves vagal reactivity in patients with heart failure. Am Heart J (1990) 1.45
Microarray analysis of newly synthesized RNA in cells and animals. Proc Natl Acad Sci U S A (2007) 1.44
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet (2001) 1.44
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet (1982) 1.43
Transcriptional activation of the rat liver tyrosine aminotransferase gene by cAMP. Proc Natl Acad Sci U S A (1984) 1.43
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. Am J Hum Genet (1999) 1.41
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet (2007) 1.41
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet (1992) 1.41
The Van der Woude syndrome (dominantly inherited lip pits and clefts). J Med Genet (1986) 1.40
Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet (1994) 1.40
Two genetically defined trans-acting loci coordinately regulate overlapping sets of liver-specific genes. Cell (1990) 1.30
Deletions near the albino locus on chromosome 7 of the mouse affect the level of tyrosine aminotransferase mRNA. Proc Natl Acad Sci U S A (1985) 1.30
The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. Eur J Pediatr (1986) 1.30
Isolation and characterization of the rat tryptophan oxygenase gene. EMBO J (1982) 1.26
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet (2005) 1.26
Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet (1997) 1.24
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet (2007) 1.23
Postmortem stability of DNA. Forensic Sci Int (1988) 1.21
Trenimon-induced chromosomal damage in bone-marrow cells of six mammalian species, evaluated by the micronucleus test. Mutat Res (1971) 1.20
Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik (1974) 1.19
Survival with trisomy 18--data from Switzerland. Am J Med Genet A (2006) 1.18
Transcription activation of the tyrosine aminotransferase gene by glucocorticoids and cAMP in primary hepatocytes. Eur J Biochem (1987) 1.16
Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. Am J Med Genet (1997) 1.15
Satellites on the long Y chromosome arm: a familial Y-autosome translocation in man. Cytogenetics (1969) 1.14
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet (2001) 1.14
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum Genet (1989) 1.13
Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome. Hum Genet (1977) 1.13
Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? Arch Ophthalmol (2000) 1.12
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. Clin Genet (1987) 1.12
At least three promoters direct expression of the mouse glucocorticoid receptor gene. Proc Natl Acad Sci U S A (1992) 1.11
Trisomy for the distal third of the long arm of chromosome 19 in brother and sister. Hum Genet (1979) 1.10
Genetic disruption of mineralocorticoid receptor leads to impaired neurogenesis and granule cell degeneration in the hippocampus of adult mice. EMBO Rep (2000) 1.10
Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics (1996) 1.09
Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? Helv Paediatr Acta (1979) 1.09
Analysis of mice carrying targeted mutations of the glucocorticoid receptor gene argues against an essential role of glucocorticoid signalling for generating adrenal chromaffin cells. Development (1999) 1.09
Uniparental origin of sex chromosome polysomies. Hum Hered (1992) 1.07
A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. Hum Genet (1991) 1.07
Bilateral renal agenesis in 2 male sibs born to consanguineous parents. J Med Genet (1978) 1.07
Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet (1993) 1.07
Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Hum Genet (1981) 1.06
Molecular study of 45,X conceptuses: correlation with clinical findings. Am J Med Genet (1992) 1.05
A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms. Hum Mutat (2001) 1.05
Trisomy 8 mosaicism syndrome. Helv Paediatr Acta (1974) 1.04
Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi's anemia, type Estren-Dameshek. Cytogenet Cell Genet (1978) 1.04
Clinical ex vivo lung perfusion--pushing the limits. Am J Transplant (2012) 1.04
Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25). J Med Genet (1981) 1.03
Chemical mutagenesis. The Chinese hamster bone marrow as an in vivo test system. I. Cytogenetic results on basic aspects of the methodology, obtained with alkylating agents. Humangenetik (1971) 1.03
Schizophrenia and smoking: evidence for a common neurobiological basis? Am J Med Genet (2000) 1.03
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am J Med Genet (1999) 1.03
Ring chromosome 13 in a polymalformed anencephalic. Humangenetik (1975) 1.03