Published in Hum Genet on January 01, 1980
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A (2009) 1.40
Absence makes the search grow longer. Am J Hum Genet (1996) 1.38
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet (1993) 0.89
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3). J Med Genet (1998) 0.84
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J Med Genet (1995) 0.83
A new member of the immunoglobulin superfamily--CTLA-4. Nature (1987) 5.10
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature (1991) 4.77
Programmed cell death is affected in the novel mouse mutant Fused toes (Ft). Development (1994) 3.71
Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. EMBO J (1990) 2.97
The characterization of the promoter of the gene encoding the p50 subunit of NF-kappa B indicates that it participates in its own regulation. EMBO J (1992) 2.86
DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet (1985) 2.59
The chemokine TECK is expressed by thymic and intestinal epithelial cells and attracts double- and single-positive thymocytes expressing the TECK receptor CCR9. Eur J Immunol (2000) 2.58
A novel lysosome-associated membrane glycoprotein, DC-LAMP, induced upon DC maturation, is transiently expressed in MHC class II compartment. Immunity (1998) 2.56
Isolation and characterization of Suv39h2, a second histone H3 methyltransferase gene that displays testis-specific expression. Mol Cell Biol (2000) 2.56
A new member of the Rho family, Rnd1, promotes disassembly of actin filament structures and loss of cell adhesion. J Cell Biol (1998) 2.36
Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet (1988) 2.34
Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature (1984) 2.28
Cloning and primary sequence of a mouse candidate prohormone convertase PC1 homologous to PC2, Furin, and Kex2: distinct chromosomal localization and messenger RNA distribution in brain and pituitary compared to PC2. Mol Endocrinol (1991) 2.26
Constitutional chromosomal breakage. Hum Genet (1976) 2.24
Characterization of the HST-related FGF.6 gene, a new member of the fibroblast growth factor gene family. Oncogene (1989) 2.20
The human PRR2 gene, related to the human poliovirus receptor gene (PVR), is the true homolog of the murine MPH gene. Gene (1995) 2.19
Complementary DNA characterization and chromosomal localization of a human gene related to the poliovirus receptor-encoding gene. Gene (1995) 2.11
X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet (1982) 2.09
A novel putative receptor protein tyrosine kinase of the met family. Oncogene (1993) 2.06
Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc Natl Acad Sci U S A (1989) 2.06
TIF1gamma, a novel member of the transcriptional intermediary factor 1 family. Oncogene (1999) 2.05
Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT. Radiology (1994) 1.98
Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. Genomics (1995) 1.96
Genetic control of diabetes progression. Immunity (1997) 1.95
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet (1997) 1.88
Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain. Neuron (1992) 1.85
Characterization of Spi-B, a transcription factor related to the putative oncoprotein Spi-1/PU.1. Mol Cell Biol (1992) 1.81
Hox-5.1 defines a homeobox-containing gene locus on mouse chromosome 2. Proc Natl Acad Sci U S A (1988) 1.79
Central pulmonary thromboembolism: diagnosis with spiral volumetric CT with the single-breath-hold technique--comparison with pulmonary angiography. Radiology (1992) 1.76
A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet (1998) 1.74
CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics (1989) 1.70
A novel, secreted form of human ADAM 12 (meltrin alpha) provokes myogenesis in vivo. J Biol Chem (1998) 1.70
Human elastin gene: new evidence for localization to the long arm of chromosome 7. Am J Hum Genet (1991) 1.69
Gene structure, expression pattern, and biological activity of mouse killer cell activating receptor-associated protein (KARAP)/DAP-12. J Biol Chem (1998) 1.68
Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16. Proc Natl Acad Sci U S A (1989) 1.68
The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man. Genomics (1990) 1.67
Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci U S A (1991) 1.66
The putative oncogene Spi-1: murine chromosomal localization and transcriptional activation in murine acute erythroleukemias. Oncogene (1989) 1.65
Molecular characterization of the mouse beta 3-adrenergic receptor: relationship with the atypical receptor of adipocytes. EMBO J (1991) 1.65
Cloning of two novel ABC transporters mapping on human chromosome 9. Genomics (1994) 1.63
The inducible cytotoxic T-lymphocyte-associated gene transcript CTLA-1 sequence and gene localization to mouse chromosome 14. Nature (1986) 1.61
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. Hum Mol Genet (1994) 1.60
Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis. Hum Genet (1984) 1.58
Structural anomalies of the X chromosome and inactivation center. Hum Genet (1981) 1.57
Femoral offset: anatomical concept, definition, assessment, implications for preoperative templating and hip arthroplasty. Orthop Traumatol Surg Res (2009) 1.54
Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: rationale for a new nomenclature of the S100 calcium-binding protein family. Genomics (1995) 1.54
Priapism following splenectomy in an unstable hemoglobin: hemoglobin Olmsted beta 141 (H19) Leu-->Arg. Am J Hematol (1996) 1.52
Nucleotide sequence of the gene for human transition protein 1 and its chromosomal localization on chromosome 2. Genomics (1990) 1.49
Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22. Genomics (1994) 1.44
Identification and characterization of a novel siglec, siglec-7, expressed by human natural killer cells and monocytes. J Biol Chem (1999) 1.44
Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. Receptors Channels (1994) 1.43
Barx1, a new mouse homeodomain transcription factor expressed in cranio-facial ectomesenchyme and the stomach. Mech Dev (1995) 1.42
Isolation of 37 single-copy DNA probes from human chromosome 6 and physical mapping of 11 probes by in situ hybridization. Genomics (1991) 1.40
The mouse neuronal cell surface protein F3: a phosphatidylinositol-anchored member of the immunoglobulin superfamily related to chicken contactin. J Cell Biol (1989) 1.40
[Transbronchial needle aspiration during flexible fibroscopy]. Rev Mal Respir (2005) 1.39
[Spiral volumetric scanning and its applications in thoracic pathology]. Rev Mal Respir (1994) 1.39
Increased plasminogen activator inhibitor activity in non insulin dependent diabetic patients--relationship with plasma insulin. Thromb Haemost (1989) 1.38
Localization of the human NCAM gene to band q23 of chromosome 11: the third gene coding for a cell interaction molecule mapped to the distal portion of the long arm of chromosome 11. J Cell Biol (1986) 1.37
Pulmonary nodules: detection with thick-section spiral CT versus conventional CT. Radiology (1993) 1.36
The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice. Nature (1986) 1.36
Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases. Hum Genet (1983) 1.36
Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution. Hum Mol Genet (1998) 1.34
Zinedin, SG2NA, and striatin are calmodulin-binding, WD repeat proteins principally expressed in the brain. J Biol Chem (2000) 1.33
Importance of ground-glass attenuation in chronic diffuse infiltrative lung disease: pathologic-CT correlation. Radiology (1993) 1.31
Six S100 genes are clustered on human chromosome 1q21: identification of two genes coding for the two previously unreported calcium-binding proteins S100D and S100E. Proc Natl Acad Sci U S A (1993) 1.30
Assignment of the human hap retinoic acid receptor RAR beta gene to the p24 band of chromosome 3. Hum Genet (1988) 1.28
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet (1995) 1.27
Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects. Hum Genet (1976) 1.26
Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3. Nucleic Acids Res (1987) 1.26
The murine polycomb-group genes Ezh1 and Ezh2 map close to Hox gene clusters on mouse chromosomes 11 and 6. Mamm Genome (1999) 1.26
Two members of an HNF1 homeoprotein family are expressed in human liver. Nucleic Acids Res (1991) 1.24
The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome 11, and its polymorphisms. Am J Hum Genet (1993) 1.24
Expression in lymphocyte and fibroblast culture of the fragile X chromosome: a new technical approach. Hum Genet (1981) 1.23
Cloning and functional expression of a novel degenerin-like Na+ channel gene in mammals. J Physiol (1999) 1.23
Structural organization and chromosomal localization of the mouse collagenase type I gene. Biochem J (1995) 1.22
Structure and expression of human fibroblast growth factor-10. J Biol Chem (1997) 1.20
The structural gene for aldolase B (ALDB) maps to 9q13----32. Ann Hum Genet (1985) 1.19
The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome. Hum Genet (1986) 1.19
Genetic Fusarium chemotyping as a useful tool for predicting nivalenol contamination in winter wheat. Int J Food Microbiol (2009) 1.18