Published in Eur J Hum Genet on November 04, 1998
Localization of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet (1999) 1.46
Carboxypeptidase A6 in zebrafish development and implications for VIth cranial nerve pathfinding. PLoS One (2010) 0.92
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. Graefes Arch Clin Exp Ophthalmol (2010) 0.89
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Semin Ophthalmol (2013) 0.89
Isolated atlantal stenosis in a patient with idiopathic growth hormone deficiency, and Klippel-Feil and Duane's syndromes. Childs Nerv Syst (2004) 0.89
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. Eur J Hum Genet (2012) 0.88
Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). Eye (Lond) (2011) 0.86
[Congenital cranial dysinnervation disorders]. Ophthalmologe (2007) 0.82
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. Mol Vis (2013) 0.77
Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle. Mol Vis (2008) 0.77
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. Mol Cytogenet (2013) 0.75
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clin Case Rep (2013) 0.75
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Site-specific integration by adeno-associated virus. Proc Natl Acad Sci U S A (1990) 7.06
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
Genome sequence, comparative analysis, and population genetics of the domestic horse. Science (2009) 4.41
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet (2001) 4.15
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet (2000) 3.87
Positive selection of a gene family during the emergence of humans and African apes. Nature (2001) 3.68
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9. Hum Genet (1986) 2.84
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Am J Med Genet (1994) 2.68
Pachydermoperiostosis: an update. Clin Genet (2005) 2.65
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet (1994) 2.55
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
The chemokine receptor CCR8 is preferentially expressed in Th2 but not Th1 cells. J Immunol (1998) 2.32
A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. Blood (1997) 2.31
ERO1-L, a human protein that favors disulfide bond formation in the endoplasmic reticulum. J Biol Chem (2000) 2.24
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr (1999) 2.18
Centromere emergence in evolution. Genome Res (2001) 2.18
Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. Hum Mol Genet (1997) 2.15
Interleukin-1-inducible genes in endothelial cells. Cloning of a new gene related to C-reactive protein and serum amyloid P component. J Biol Chem (1992) 2.08
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06
Assignment of the vascular endothelial growth factor gene to human chromosome 6p21.3. Circulation (1996) 2.04
Zinc sulfate supplementation improves thyroid function in hypozincemic Down children. Biol Trace Elem Res (1999) 2.03
Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. Hum Mol Genet (1999) 1.94
Translocation breakpoint of acute promyelocytic leukemia lies within the retinoic acid receptor alpha locus. Proc Natl Acad Sci U S A (1991) 1.90
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet (1995) 1.82
Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet (1994) 1.73
Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11. Hum Mol Genet (2000) 1.71
Effectiveness of anthracycline against experimental prion disease in Syrian hamsters. Science (1997) 1.70
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum Mol Genet (1997) 1.70
SV40 induces mesotheliomas in hamsters. Am J Pathol (1993) 1.64
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. Cell Death Differ (2010) 1.63
Genetic modulation of the Let-7 microRNA binding to KRAS 3'-untranslated region and survival of metastatic colorectal cancer patients treated with salvage cetuximab-irinotecan. Pharmacogenomics J (2010) 1.63
Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus. Cancer Genet Cytogenet (1990) 1.60
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. Am J Hum Genet (1990) 1.60
CAGGG repeats and the pericentromeric duplication of the hominoid genome. Genome Res (1999) 1.55
The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clin Genet (1988) 1.54
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet (2003) 1.53
Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. Pediatr Cardiol (1997) 1.52
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet (1992) 1.51
Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol (1999) 1.50
Computer-assisted analysis of methylation status of individual interphase nuclei in human cultured cells. Cytometry (1998) 1.49
Inositide-specific phospholipase c beta1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia. Leukemia (2004) 1.48
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet (2005) 1.48
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet (1983) 1.47
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
Centromere repositioning. Genome Res (1999) 1.46
Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization. Genomics (1995) 1.44
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet (2005) 1.43
Jeune syndrome associated with cystinuria: report of two sisters. Am J Med Genet (1990) 1.43
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine. Hum Genet (1989) 1.43
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. Mol Med Today (2000) 1.41
A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. Ophthalmic Genet (1999) 1.41
Prenatal diagnosis of triose phosphate isomerase deficiency. Lancet (1989) 1.40
Noonan syndrome with cardiac left-sided obstructive lesions. Hum Genet (1997) 1.39
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet (2004) 1.36
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet (2004) 1.35
[Familial translocation 2-D]. Ann Genet (1968) 1.35
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet (1999) 1.35
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum Mol Genet (2000) 1.34
The NM23 gene maps to human chromosome band 17q22 and shows a restriction fragment length polymorphism with BglII. Genes Chromosomes Cancer (1992) 1.34
C-myc and c-fos in human osteosarcoma: prognostic value of mRNA and protein expression. Oncology (1998) 1.33
SV40-like sequences in human bone tumors. Oncogene (1996) 1.33
A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet (2001) 1.33
Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110 alpha (PIK3CA) gene. Genomics (1994) 1.33
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site. Proc Natl Acad Sci U S A (1984) 1.30
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.30
Familial deletions of chromosome 22q11. Am J Med Genet (1997) 1.29
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod (2004) 1.29
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol (2001) 1.28
Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q. Hum Mol Genet (2000) 1.25
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet (1999) 1.24
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
Primate chromosome evolution: ancestral karyotypes, marker order and neocentromeres. Chromosome Res (2008) 1.24
A human alpha satellite DNA subset specific for chromosome 12. Am J Hum Genet (1990) 1.24
Heterogeneous chromosomal aberrations generate 3' truncations of the NFKB2/lyt-10 gene in lymphoid malignancies. Blood (1994) 1.23
Extreme reduction of chromosome-specific alpha-satellite array is unusually common in human chromosome 21. Genome Res (1999) 1.22
Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain. J Biol Chem (1999) 1.22
Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21. Am J Hum Genet (1999) 1.21
cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci U S A (1991) 1.20
Upregulation of the SOX5 by promoter swapping with the P2RY8 gene in primary splenic follicular lymphoma. Leukemia (2007) 1.19
Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. Mol Biol Evol (2003) 1.18
Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet (2003) 1.18
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Hum Mol Genet (1993) 1.17
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet (1997) 1.13
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Clin Genet (2010) 1.12
Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB). Gene (1993) 1.12
Hormone-modulated rRNA gene activity is visualized by selective staining of the NOs. Cell Biol Int Rep (1985) 1.12
An alphoid DNA sequence conserved in all human and great ape chromosomes: evidence for ancient centromeric sequences at human chromosomal regions 2q21 and 9q13. Hum Genet (1993) 1.11