Published in Helv Paediatr Acta on January 01, 1987
Disruption of contactin 4 in three subjects with autism spectrum disorder. J Med Genet (2008) 2.19
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet (2004) 1.87
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet (2007) 0.99
A rare chromosome 3 imbalance and its clinical implications. Case Rep Pediatr (2012) 0.75
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
Purification and characterization of vicilin peptidohydrolase, the major endopeptidase in the cotyledons of mung-bean seedlings. Eur J Biochem (1977) 3.40
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
Regulation of reserve protein metabolism in the cotyledons of mung bean seedlings. Proc Natl Acad Sci U S A (1976) 2.47
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
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
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
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
The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet (1992) 1.67
Uptake and apparent digestion of cytoplasmic organelles by protein bodies (protein storage vacuoles) in mung bean cotyledons. Eur J Cell Biol (1981) 1.66
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
Localization of vicilin peptidohydrolase in the cotyledons of mung bean seedlings by immunofluorescence microscopy. J Cell Biol (1978) 1.54
Meiotic segregation, synapsis, and recombination checkpoint functions require physical interaction between the chromosomal proteins Red1p and Hop1p. Mol Cell Biol (2000) 1.52
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
Intellectual outcome in children and adolescents with acute lymphoblastic leukaemia treated with chemotherapy alone: age- and sex-related differences. Eur J Cancer (2003) 1.50
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
[Trisomy-21 screening using AFPplus in the eastern part of Switzerland]. Schweiz Med Wochenschr (1995) 1.46
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
Intrachromosomal triplication of 15q11-q13. J Med Genet (1994) 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
Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome. Am J Hum Genet (1991) 1.31
The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. Eur J Pediatr (1986) 1.30
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet (1990) 1.27
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
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
Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet (1995) 1.17
Reduced recombination and paternal age effect in Klinefelter syndrome. Hum Genet (1992) 1.15
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
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
4-Hydroxynonenal prevents NF-kappaB activation and tumor necrosis factor expression by inhibiting IkappaB phosphorylation and subsequent proteolysis. J Biol Chem (1999) 1.12
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
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
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
[Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father]. Humangenetik (1972) 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
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
Trisomy 2p: analysis of unusual phenotypic findings. Am J Med Genet (1995) 1.01
Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent edomitosis in Fanconi anemia cells. Am J Hum Genet (1985) 1.01
Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim. Humangenetik (1974) 1.01
Unilateral lobar pulmonary agenesis in sibs. J Med Genet (2000) 1.01
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet (1993) 1.00
Report of the committee on clinical disorders and chromosomal deletion syndromes. Cytogenet Cell Genet (1989) 1.00
Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet (1996) 1.00
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. J Pediatr (1999) 0.99
Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics (1991) 0.98
Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34). Am J Med Genet (1984) 0.98
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. Am J Med Genet (1991) 0.97
Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. J Med Genet (1977) 0.97
Trypsin inhibitor in mung bean cotyledons: purification, characteristics, subcellular localization, and metabolism. Plant Physiol (1978) 0.97
The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome. Pediatr Cardiol (2007) 0.96
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J Med Genet (2007) 0.96
Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet (1998) 0.95
A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. Am J Hum Genet (1991) 0.95
Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies. Clin Genet (1980) 0.95