Published in Genomics on October 01, 1991
Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sci U S A (1993) 2.21
The C terminus of peripherin/rds participates in rod outer segment targeting and alignment of disk incisures. Mol Biol Cell (2004) 1.58
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet (1993) 1.45
Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. J Clin Invest (1996) 1.38
Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc (2003) 1.27
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.00
Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. J Med Genet (1994) 0.83
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. Invest Ophthalmol Vis Sci (2016) 0.78
Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme. Invest Ophthalmol Vis Sci (2017) 0.75
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
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
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
Evaluation of the cytokines interleukin 8 and epithelial neutrophil activating peptide 78 as indicators of inflammation in prostatic secretions. Urology (2000) 1.92
Post-neonatal health and development of children born after assisted reproduction: a systematic review of controlled studies. Eur J Obstet Gynecol Reprod Biol (2006) 1.92
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology (2004) 1.83
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
Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Respir Crit Care Med (2001) 1.77
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet (1994) 1.76
Over-expression of wild-type Rad51 correlates with histological grading of invasive ductal breast cancer. Int J Cancer (2000) 1.70
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70
Light-evoked changes in [K+]0 in retina of intact cat eye. J Neurophysiol (1980) 1.70
Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis. Hum Genet (1988) 1.63
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
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics (1989) 1.59
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
Selection pressure for the factor-V-Leiden mutation and embryo implantation. Lancet (2001) 1.54
Haemophilia B: database of point mutations and short additions and deletions--eighth edition. Nucleic Acids Res (1998) 1.54
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
The structure of the C-terminal domain of methionine synthase: presenting S-adenosylmethionine for reductive methylation of B12. Structure (1996) 1.49
Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993. Nucleic Acids Res (1993) 1.49
Measurement of the depth of maximum of extensive air showers above 10{18} eV. Phys Rev Lett (2010) 1.48
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet (1994) 1.45
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res (1996) 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
Enhanced proteoglycan deposition in the airway wall of atopic asthmatics. Am J Respir Crit Care Med (1999) 1.43
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet (1982) 1.43
Histochemical demonstration of glycogen in neurons of the cat retina. Invest Ophthalmol Vis Sci (1996) 1.43
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci? Neurology (2007) 1.42
High-normal serum homocysteine concentrations are associated with an increased risk of early atherosclerotic carotid artery wall lesions in healthy subjects. J Hypertens (2000) 1.41
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
Polyploidies in abortion material decrease with maternal age. Hum Genet (1993) 1.40
Debate. Assisted reproductive techniques - are we avoiding the genetic issues? Hum Reprod (1996) 1.38
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res (1992) 1.36
Behavioral consequences of intracerebral vasopressin and oxytocin: focus on learning and memory. Neurosci Biobehav Rev (1996) 1.34
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology (2002) 1.32
Differences in elasticity of vinculin-deficient F9 cells measured by magnetometry and atomic force microscopy. Exp Cell Res (1998) 1.31
The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. Eur J Pediatr (1986) 1.30
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat (1993) 1.29
A metal-chelating microscopy tip as a new toolbox for single-molecule experiments by atomic force microscopy. Biophys J (2000) 1.29
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res (1991) 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
Phenylketonuria: distribution of DNA diagnostic patterns in German families. Hum Genet (1988) 1.24
Expression of the long form of the prolactin receptor in magnocellular oxytocin neurons is associated with specific prolactin regulation of oxytocin neurons. Am J Physiol Regul Integr Comp Physiol (2006) 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
Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease. Am J Med Genet (1996) 1.23
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet (1992) 1.22
Perioperative and post-operative complications of transvaginal ultrasound-guided oocyte retrieval: prospective study of >1000 oocyte retrievals. Hum Reprod (2006) 1.21
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21
A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med (1988) 1.21
Clinical diagnosis of partial duplication 7q. Am J Med Genet (1990) 1.20
Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics (1990) 1.20
Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res (1990) 1.20
c-fos controls the "private pathway" of light-induced apoptosis of retinal photoreceptors. J Neurosci (2000) 1.20
Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik (1974) 1.19
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet (1994) 1.18
Survival with trisomy 18--data from Switzerland. Am J Med Genet A (2006) 1.18
Investigations on possible resistance in Aedes vexans field populations after a 10-year application of Bacillus thuringiensis israelensis. J Am Mosq Control Assoc (1993) 1.17
Parathyroid cysts. Am J Surg (1982) 1.16
kappa-opioid regulation of neuronal activity in the rat supraoptic nucleus in vivo. J Neurosci (1998) 1.16
A leucine-to-proline substitution causes a defective alpha 1-antichymotrypsin allele associated with familial obstructive lung disease. Genomics (1993) 1.15
FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers. J Neurol (2004) 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
Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease. Mol Psychiatry (2002) 1.14
Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter. Science (1992) 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
Isochromosome 18q with karyotype 46,XX,i(18q). Cytogenetics and pathology. Clin Genet (1984) 1.13