EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3).

PubWeight™: 1.01‹?› | Rank: Top 15%

🔗 View Article (PMID 8298740)

Published in Clin Dysmorphol on January 01, 1993

Authors

S Akita1, H Kuratomi, K Abe, N Harada, N Mukae, N Niikawa

Author Affiliations

1: Department of Plastic and Reconstructive Surgery, Nagasaki University School of Medicine, Japan.

Articles by these authors

(truncated to the top 100)

Nuclear reprogramming of somatic cells by in vitro hybridization with ES cells. Curr Biol (2001) 5.42

Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science (1993) 4.63

Germline-specific expression of the Oct-4/green fluorescent protein (GFP) transgene in mice. Dev Growth Differ (1999) 3.56

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr (1981) 3.55

Light-driven monodirectional molecular rotor. Nature (1999) 3.32

Cytokine receptors and signal transduction. Annu Rev Immunol (1992) 3.27

ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. J Biol Chem (1999) 3.25

A novel transgenic technique that allows specific marking of the neural crest cell lineage in mice. Dev Biol (1999) 3.11

Interleukin-3, granulocyte-macrophage colony stimulating factor and interleukin-5 transduce signals through two STAT5 homologs. EMBO J (1995) 2.90

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet (1996) 2.89

Hepatitis B e antigen and infectivity of hepatitis B virus. J Infect Dis (1977) 2.80

Purified interleukin 5 supports the terminal differentiation and proliferation of murine eosinophilic precursors. J Exp Med (1988) 2.71

Normal and abnormal regulation of beta-msh in man. J Clin Invest (1969) 2.68

Nucleotide sequence of the PR-1 gene of Nicotiana tabacum. FEBS Lett (1987) 2.53

Predominant role for C5b-9 in renal ischemia/reperfusion injury. J Clin Invest (2000) 2.45

Radioimmunoassay of beta-MSH in human plasma and tissues. J Clin Invest (1967) 2.44

Rapid and specific genotyping system for hepatitis B virus corresponding to six major genotypes by PCR using type-specific primers. J Clin Microbiol (2001) 2.42

Somatic activation of beta-catenin bypasses pre-TCR signaling and TCR selection in thymocyte development. Nat Immunol (2001) 2.39

Mosaic and polymorphic imprinting of the WT1 gene in humans. Nat Genet (1994) 2.35

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35

Tonsillectomy and steroid pulse therapy significantly impact on clinical remission in patients with IgA nephropathy. Am J Kidney Dis (2001) 2.30

Cloning of complementary DNA encoding T-cell replacing factor and identity with B-cell growth factor II. Nature (1986) 2.28

Longitudinal study of cerebrospinal fluid levels of tau, A beta1-40, and A beta1-42(43) in Alzheimer's disease: a study in Japan. Ann Neurol (1998) 2.25

Collective review of small carcinomas of the pancreas. Ann Surg (1986) 2.24

Tumor of the ampulla of Vater: experience with local or radical resection in 171 consecutively treated patients. Arch Surg (1999) 2.20

Aggressive natural killer cell leukaemia/lymphoma: report of four cases and review of the literature. Possible existence of a new clinical entity originating from the third lineage of lymphoid cells. Br J Haematol (1990) 2.18

Clinical and laboratory studies of ectopic humoral syndromes. Recent Prog Horm Res (1969) 2.16

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. Hum Mol Genet (1999) 2.16

The Ras target AF-6 interacts with ZO-1 and serves as a peripheral component of tight junctions in epithelial cells. J Cell Biol (1997) 2.10

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet (2000) 2.02

Morphological change in the early stages of the mating process of Rhodosporidium toruloides. J Bacteriol (1975) 1.93

Accuracy and performance of the Terumo ES-H51, a new portable blood pressure monitor. Am J Hypertens (1994) 1.92

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet (2003) 1.92

Rapid induction of vascular endothelial growth factor gene expression after transient middle cerebral artery occlusion in rats. Stroke (1997) 1.91

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80

Production of a monoclonal antibody useful in the molecular characterization of murine T-cell-replacing factor/B-cell growth factor II. Proc Natl Acad Sci U S A (1987) 1.79

The role of macrophages in diabetic glomerulosclerosis. Am J Kidney Dis (1993) 1.77

T cell-replacing factor (TRF)/interleukin 5 (IL-5): molecular and functional properties. Immunol Rev (1988) 1.76

A cDNA clone closely associated with non-A, non-B hepatitis. Nucleic Acids Res (1990) 1.76

Degradation of chromosomal DNA during apoptosis. Cell Death Differ (2003) 1.73

Effect of omeprazole, an inhibitor of H+,K(+)-ATPase, on bone resorption in humans. Calcif Tissue Int (1993) 1.72

BCGFII activity on activated B cells of a purified murine T cell-replacing factor (TRF) from a T cell hybridoma (B151K12). J Immunol (1985) 1.72

Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. Hum Genet (1989) 1.72

Banding analysis of abnormal karyotypes in spontaneous abortion. Am J Hum Genet (1973) 1.71

Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. J Am Soc Nephrol (1997) 1.71

Susceptibility of hepatitis B virus to disinfectants or heat. J Clin Microbiol (1984) 1.70

Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet (1980) 1.68

Purification and physicochemical characterization of murine T cell replacing factor (TRF). J Immunol (1985) 1.67

Involvement of claudin-1 in the beta-catenin/Tcf signaling pathway and its frequent upregulation in human colorectal cancers. Oncol Res (2001) 1.66

Activation of coagulation and angiogenesis in cancer: immunohistochemical localization in situ of clotting proteins and vascular endothelial growth factor in human cancer. Am J Pathol (1998) 1.65

Intraductal papillary-mucinous tumors of the pancreas: differential diagnosis between benign and malignant tumors by endoscopic ultrasonography. Am J Gastroenterol (2001) 1.64

Identification of the duplicated segments in rice chromosomes 1 and 5 by linkage analysis of cDNA markers of known functions. Theor Appl Genet (1994) 1.63

Reduction of ischemic damage by application of vascular endothelial growth factor in rat brain after transient ischemia. J Cereb Blood Flow Metab (1998) 1.62

Participation of macrophages in segmental endocapillary proliferation preceding focal glomerular sclerosis. J Pathol (1993) 1.60

Akt/protein kinase B prevents injury-induced motoneuron death and accelerates axonal regeneration. J Neurosci (2000) 1.59

Disruption of sexual behavior in male aromatase-deficient mice lacking exons 1 and 2 of the cyp19 gene. Biochem Biophys Res Commun (1998) 1.57

Feasibility of left lobe living donor liver transplantation between adults: an 8-year, single-center experience of 107 cases. Am J Transplant (2006) 1.57

The paternal methylation imprint of the mouse H19 locus is acquired in the gonocyte stage during foetal testis development. Genes Cells (2000) 1.56

Acute vasodilator effects of a Rho-kinase inhibitor, fasudil, in patients with severe pulmonary hypertension. Heart (2005) 1.55

Choice of surgical treatment for multisegmental cervical spondylotic myelopathy. Spine (Phila Pa 1976) (1985) 1.55

Intraglomerular C3 synthesis in human kidney detected by in situ hybridization. J Am Soc Nephrol (1996) 1.54

Localization and controls of aromatase in the quail spinal cord. J Comp Neurol (2000) 1.54

The development of transient hypothyroidism after iodine-131 treatment in hyperthyroid patients with Graves' disease: prevalence, mechanism and prognosis. Clin Endocrinol (Oxf) (1997) 1.54

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Nat Genet (1994) 1.53

Increased incidence of cytomegalovirus (CMV) infection and CMV-associated disease after allogeneic bone marrow transplantation from unrelated donors. The Fukuoka Bone Marrow Transplantation Group. Bone Marrow Transplant (1997) 1.53

Deepwater formation in the North Pacific during the Last Glacial Termination. Science (2010) 1.53

Endoderm-specific gene expression in embryonic stem cells differentiated to embryoid bodies. Exp Cell Res (1996) 1.52

Delayed and selective motor neuron death after transient spinal cord ischemia: a role of apoptosis? J Thorac Cardiovasc Surg (1998) 1.52

47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. J Med Genet (1999) 1.50

DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet (1991) 1.49

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet (1993) 1.49

Chronic active hepatitis in transgenic mice expressing interferon-gamma in the liver. Proc Natl Acad Sci U S A (1994) 1.49

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2) Am J Med Genet (1991) 1.48

Producing a full-scale model from computed tomographic data with the rapid prototyping technique using the binder jet method: a comparison with the laser lithography method using a dry skull. J Craniofac Surg (2000) 1.48

Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Intern Med (2001) 1.46

Antidepressant effect of lithium in patients with systemic lupus erythematosus and cerebral infarction, treated with corticosteroid. Br J Psychiatry (1994) 1.45

Salivary bisphenol-A levels detected by ELISA after restoration with composite resin. J Mater Sci Mater Med (2005) 1.45

IP(3) receptor type 3 and PLCbeta2 are co-expressed with taste receptors T1R and T2R in rat taste bud cells. Chem Senses (2001) 1.44

Cautions after liver transplantation for familial amyloidotic polyneuropathy. Intern Med (2001) 1.43

Two cases of colonic adenomatous polyps accompanied by a migrated surgical suture. Endoscopy (2001) 1.43

Compactin and simvastatin, but not pravastatin, induce bone morphogenetic protein-2 in human osteosarcoma cells. Biochem Biophys Res Commun (2000) 1.43

Interleukin 2 and erythropoietin activate STAT5/MGF via distinct pathways. EMBO J (1995) 1.42

Identification of AF-6 and canoe as putative targets for Ras. J Biol Chem (1996) 1.42

Establishment of a local cooling model against spinal cord ischemia representing prolonged induction of heat shock protein. J Thorac Cardiovasc Surg (2001) 1.40

Myositis as a manifestation of chronic graft-versus-host disease. Intern Med (2000) 1.40

Improvement of SSPE by intrathecal infusion of alpha-IFN. Neurology (2004) 1.40

T-cell-replacing factor (interleukin 5) induces expression of interleukin 2 receptors on murine splenic B cells. Proc Natl Acad Sci U S A (1987) 1.40

Differences in antigenic sites, recognized by anti-liver-kidney microsome-1 (LKM-1) autoantibody, between HCV-positive and HCV-negative sera in Japanese patients. J Gastroenterol (1998) 1.39

Effects of macrophage colony-stimulating factor (M-CSF) on the mobilization of peripheral blood stem cells. Bone Marrow Transplant (1994) 1.39

Interleukin 5, a T-cell-derived B-cell differentiation factor also induces cytotoxic T lymphocytes. Proc Natl Acad Sci U S A (1987) 1.39

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet (1999) 1.39

Genetic variants of CYP19 (aromatase) and breast cancer risk. Oncogene (2000) 1.38

Dependence of Dbl and Dbs transformation on MEK and NF-kappaB activation. Mol Cell Biol (1999) 1.38

Polymorphic and tissue-specific imprinting of the human Wilms tumor gene, WT1. Jpn J Hum Genet (1997) 1.37

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet (2004) 1.37

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Lancet (1992) 1.37

Interleukin 1 beta, tumor necrosis factor alpha, and interleukin 8 in bronchoalveolar lavage fluid of patients with diffuse panbronchiolitis: a potential mechanism of macrolide therapy. Respiration (1996) 1.37

Origin of triploidy and tetraploidy in man: 11 cases with chromosomes markers. Cytogenet Cell Genet (1977) 1.36

Prediction of mortality by ambulatory blood pressure monitoring versus screening blood pressure measurements: a pilot study in Ohasama. J Hypertens (1997) 1.34

Cancer cachexia syndrome developed in nude mice bearing melanoma cells producing leukemia-inhibitory factor. Cancer Res (1991) 1.34