Published in Hum Genet on November 02, 1977
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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet (1996) 4.36
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet (1998) 3.18
Regulation of chondrocyte differentiation by Cbfa1. Mech Dev (1999) 2.73
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A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev (1994) 1.65
Cloning of human ubiquitin-conjugating enzymes UbcH6 and UbcH7 (E2-F1) and characterization of their interaction with E6-AP and RSP5. J Biol Chem (1996) 1.64
Pericentric inversions. Problems and significance for clinical genetics. Hum Genet (1984) 1.49
Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet (1998) 1.49
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Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. Am J Hum Genet (1996) 1.23
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Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet (1997) 1.18
LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet (2000) 1.15
Changes in muscle metabolites in females with 30-s exhaustive exercise. Med Sci Sports Exerc (1982) 1.15
Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p? Am J Med Genet (2000) 1.14
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet (2001) 1.12
Azospirillum irakense sp. nov., a nitrogen-fixing bacterium associated with rice roots and rhizosphere soil. Res Microbiol (1990) 1.11
Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression. Hum Mol Genet (2000) 1.09
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet (2003) 1.07
A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. Proc Natl Acad Sci U S A (1992) 1.07
Prevalence of antibodies against influenza A and B viruses in children in Germany, 2008 to 2010. Euro Surveill (2014) 1.07
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet (1998) 1.06
Mtr1, a novel biallelically expressed gene in the center of the mouse distal chromosome 7 imprinting cluster, is a member of the Trp gene family. Genomics (2000) 1.05
Mutations in the basic core promotor and the precore region of hepatitis B virus and their selection in children with fulminant and chronic hepatitis B. Hepatology (1999) 1.05
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet (2010) 1.05
The German national registry for primary immunodeficiencies (PID). Clin Exp Immunol (2013) 1.05
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. Pediatr Radiol (2001) 1.04
One gene, two transcripts: isolation of an alternative transcript encoding for the autoantigen La/SS-B from a cDNA library of a patient with primary Sjögrens' syndrome. J Exp Med (1994) 1.04
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol Genomics (2000) 1.03
Ten novel mutations found in Aniridia. Hum Mutat (1998) 1.03
Effects of two breath-holding maneuvers on oropharyngeal swallow. Ann Otol Rhinol Laryngol (1996) 1.02
Developmental expression of splicing variants of fibroblast growth factor receptor 3 (FGFR3) in mouse. Int J Dev Biol (1996) 1.02
Relationships between leg muscle fiber type distribution and leg exercise performance. Int J Sports Med (1981) 1.01
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet (1998) 1.00
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. Eur J Hum Genet (2000) 1.00
Effects of beta-adrenergic blockade on O2 uptake during submaximal and maximal exercise. J Appl Physiol Respir Environ Exerc Physiol (1983) 1.00
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene. Am J Med Genet A (2005) 1.00
The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation. Mol Cell Biol (1999) 1.00
Molecular genetics of intestinal glucose transport. J Clin Invest (1991) 0.99
Coccidia-induced mucogenesis promotes the onset of necrotic enteritis by supporting Clostridium perfringens growth. Vet Immunol Immunopathol (2007) 0.99
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. J Med Genet (1998) 0.99
Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum Reprod (1997) 0.99
X-inactivation pattern in three cases of X/autosome translocation. Am J Med Genet (1978) 0.99
Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996. Cytogenet Cell Genet (1996) 0.98
Muscle capillary supply and fiber type characteristics in weight and power lifters. J Appl Physiol Respir Environ Exerc Physiol (1984) 0.97
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. J Med Genet (1996) 0.97
Beta-blockers and running. Am Heart J (1980) 0.96
Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes. J Med Genet (1978) 0.96
Effects of stress, mimicked by administration of corticosterone in drinking water, on the expression of chicken cytokine and chemokine genes in lymphocytes. Stress (2009) 0.95
Partial trisomy 12q. J Med Genet (1981) 0.95
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. Am J Med Genet (1992) 0.95
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet (1991) 0.94
The turkey, compared to the chicken, fails to mount an effective early immune response to Histomonas meleagridis in the gut. Parasite Immunol (2009) 0.94
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. Am J Hum Genet (1999) 0.94
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. Am J Hum Genet (1998) 0.93
Turkey and chicken interferon-gamma, which share high sequence identity, are biologically cross-reactive. Dev Comp Immunol (2001) 0.93
RNAi knock-down mice: an emerging technology for post-genomic functional genetics. Cytogenet Genome Res (2004) 0.93
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling. J Med Genet (2000) 0.92
Systematic screening of an arrayed cDNA library by PCR. Proc Natl Acad Sci U S A (1995) 0.92
Timing of glottic closure during normal swallow. Head Neck (1996) 0.92
Muscle metabolism during intense, heavy-resistance exercise. Eur J Appl Physiol Occup Physiol (1986) 0.91
WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. Genomics (1994) 0.91
A real time picture processor for use in biologic cell identification. II. Hardware implementation. J Histochem Cytochem (1974) 0.90
Characterization of dinY, a new Escherichia coli DNA repair gene whose products are damage inducible even in a lexA(Def) background. J Bacteriol (1993) 0.90
An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. Am J Med Genet (1996) 0.90
A real time picture processor for use in biologic cell identification. I. System design. J Histochem Cytochem (1974) 0.90
Cold agglutinin disease in a patient with uterine sarcoma. Am J Med Sci (2000) 0.89
Interstitial deletion in the long arm of chromosome No. 5. Clin Genet (1983) 0.89
Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation. Hum Genet (1995) 0.89
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Early immune dynamics following infection with Salmonella enterica serovars Enteritidis, Infantis, Pullorum and Gallinarum: cytokine and chemokine gene expression profile and cellular changes of chicken cecal tonsils. Comp Immunol Microbiol Infect Dis (2012) 0.89
Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis. Hum Genet (1997) 0.89
[Dq-, multiple malformations and retinoblastoma]. Humangenetik (1970) 0.88
Distribution of osteonectin mRNA and protein during human embryonic and fetal development. J Histochem Cytochem (1992) 0.88
Anti-anaphylactic effect of Euphorbia hirta. Fitoterapia (2007) 0.88
Physical performance and muscle metabolism during beta-adrenergic blockade in man. Acta Physiol Scand Suppl (1984) 0.87
Short arm deletion of an X chromosome, 46,XXp-. Hum Genet (1976) 0.87
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia. Am J Hum Genet (1992) 0.87
Sibutramine: a novel new agent for obesity treatment. Obes Res (1995) 0.86
A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p). Cytogenet Cell Genet (2000) 0.86
Fine mapping of the chicken salmonellosis resistance locus (SAL1). Anim Genet (2009) 0.86
Cytogenetic and molecular characterization of a newly established neuroblastoma cell line LS. Hum Genet (1991) 0.86
Direct pulsed field gel electrophoresis of Wilms' tumors shows that DNA deletions in 11p13 are rare. Genes Chromosomes Cancer (1991) 0.86