Trisomy 4p due to a paternal t(4p-;16p+) translocation.

PubWeight™: 0.79‹?›

🔗 View Article (PMID 1002146)

Published in Hum Genet on October 28, 1976

Authors

T Bauknecht, F Betteken, W Vogel

Articles by these authors

Calcium inward currents in internally perfused giant axons. J Physiol (1973) 5.02

[Effect of tetrodotoxin and tertaethylammonium chloride on the inside of the membrane of Ranvier's node in Xenopus laevis]. Pflugers Arch (1969) 3.88

Serum levels of cytokines in chronic liver diseases. Gastroenterology (1992) 3.47

Induced micronucleus frequencies in peripheral lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Res (2000) 2.83

Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. Lancet (1999) 2.68

Mammalian Grb2 regulates multiple steps in embryonic development and malignant transformation. Cell (1998) 2.64

Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43. Am J Hum Genet (1998) 2.59

A randomized, controlled study to assess the conversion from calcineurin-inhibitors to everolimus after liver transplantation--PROTECT. Am J Transplant (2012) 2.24

The present and future disease burden of hepatitis C virus (HCV) infection with today's treatment paradigm. J Viral Hepat (2014) 2.23

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet (1993) 2.00

Potassium inactivation in single myelinated nerve fibres of Xenopus laevis. Pflugers Arch (1971) 1.98

Visualization of the conservation of synteny between humans and pigs by heterologous chromosomal painting. Genomics (1995) 1.94

Changes of genetic apolipoprotein phenotypes caused by liver transplantation. Implications for apolipoprotein synthesis. J Clin Invest (1989) 1.92

Case volume and outcome of endoscopic retrograde cholangiopancreatography: results of a nationwide Austrian benchmarking project. Endoscopy (2008) 1.91

Prognostic factors in patients with advanced hepatocellular carcinoma treated with sorafenib. Aliment Pharmacol Ther (2011) 1.85

Distinct structural characteristics of discoidin I subfamily receptor tyrosine kinases and complementary expression in human cancer. Oncogene (1995) 1.81

Inactivation of the asymmetrical displacement current in giant axons of Loligo forbesi. J Physiol (1977) 1.80

[The Geriatric Minimum Data Set (Gemidas) of the Federal Association of Clinical Geriatric Facilities e. V. as an instrument for quality assurance in inpatient geriatrics]. Z Gerontol Geriatr (1999) 1.80

[Prophylaxis, diagnosis and therapy of hepatitis C virus (HCV) infection: the German guidelines on the management of HCV infection]. Z Gastroenterol (2010) 1.76

Interactions of drugs with adrenergic neurons. Pharmacol Rev (1966) 1.76

Calcium and lanthanum effects at the nodal membrane. Pflugers Arch (1974) 1.74

Echinococcus multilocularis revisited. AJR Am J Roentgenol (2001) 1.69

Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload. Gastroenterology (2001) 1.68

Historical epidemiology of hepatitis C virus (HCV) in selected countries. J Viral Hepat (2014) 1.68

Strategies to manage hepatitis C virus (HCV) disease burden. J Viral Hepat (2014) 1.67

Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction. Ann Intern Med (1997) 1.64

Interleukin-1 receptor antagonist in differential diagnosis of inflammatory bowel diseases. Eur J Gastroenterol Hepatol (1995) 1.64

Immunological consolidation of ovarian carcinoma recurrences with monoclonal anti-idiotype antibody ACA125: immune responses and survival in palliative treatment. See The biology behind: K. A. Foon and M. Bhattacharya-Chatterjee, Are solid tumor anti-idiotype vaccines ready for prime time? Clin. Cancer Res., 7:1112-1115, 2001. Clin Cancer Res (2001) 1.58

Cutaneous lesions as the presenting sign of acute graft-versus-host disease following liver transplantation. Br J Dermatol (1999) 1.50

Properties and functions of calcium-activated K+ channels in small neurones of rat dorsal root ganglion studied in a thin slice preparation. J Physiol (1998) 1.49

A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet (2001) 1.46

Vaccination with HPV16 peptides of patients with advanced cervical carcinoma: clinical evaluation of a phase I-II trial. Eur J Cancer (1999) 1.44

Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures. Prenat Diagn (1998) 1.44

Inseparability criteria for continuous bipartite quantum states. Phys Rev Lett (2005) 1.43

Successful use of continuous intravenous prostacyclin in a patient with severe portopulmonary hypertension. Wien Klin Wochenschr (2000) 1.42

Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations. Clin Genet (1978) 1.42

[Geriatric treatment in hospitals?--medical, legal, and economic aspects]. Z Gerontol Geriatr (2007) 1.39

False-negative findings in chorionic villus sampling. An experimental approach and review of the literature. Prenat Diagn (1998) 1.39

[Personal experience with prevention and therapy of infection after 53 liver transplantations]. Langenbecks Arch Chir (1991) 1.38

Bacille Calmette-Guérin--associated neonatal hepatitis. Eur J Pediatr (1991) 1.38

Failed spinal anesthesia with the Sprotte needle. Anesthesiology (1991) 1.38

Slow recovery of sodium current and 'gating current' from inactivation. J Physiol (1977) 1.37

Mutation screening and association study of RNASEL as a prostate cancer susceptibility gene. Br J Cancer (2005) 1.31

Single-channel recording in myelinated nerve fibers reveals one type of Na channel but different K channels. Proc Natl Acad Sci U S A (1989) 1.26

The discoidin domain receptor tyrosine kinase DDR1 in arterial wound repair. J Clin Invest (2001) 1.25

Single voltage-gated K+ channels and their functions in small dorsal root ganglion neurones of rat. J Physiol (1996) 1.23

An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium. Am J Hum Genet (2000) 1.23

Complex blockade of TTX-resistant Na+ currents by lidocaine and bupivacaine reduce firing frequency in DRG neurons. J Neurophysiol (1998) 1.23

Human biglycan gene. Putative promoter, intron-exon junctions, and chromosomal localization. J Biol Chem (1991) 1.19

Absence of Sry in species of the vole Ellobius. Nat Genet (1995) 1.19

Safety and efficacy of lamivudine in patients with severe acute or fulminant hepatitis B, a multicenter experience. J Viral Hepat (2006) 1.17

Influence of chromosomal integration on glucocorticoid-regulated transcription of growth-stimulating papillomavirus genes E6 and E7 in cervical carcinoma cells. Proc Natl Acad Sci U S A (1991) 1.17

Functional distribution of three types of Na+ channel on soma and processes of dorsal horn neurones of rat spinal cord. J Physiol (1997) 1.16

Single voltage-activated Na+ and K+ channels in the somata of rat motoneurones. J Physiol (1995) 1.16

ERG protein expression and genomic rearrangement status in primary and metastatic prostate cancer--a comparative study of two monoclonal antibodies. Prostate Cancer Prostatic Dis (2012) 1.16

Induction of circulating IL-1 receptor antagonist by IFN treatment. J Immunol (1993) 1.13

Properties and functions of Na(+)-activated K+ channels in the soma of rat motoneurones. J Physiol (1996) 1.13

Na(+)-activated K+ channels localized in the nodal region of myelinated axons of Xenopus. J Physiol (1994) 1.13

ATP-sensitive and Ca-activated K channels in vertebrate axons: novel links between metabolism and excitability. Pflugers Arch (1991) 1.12

Genetic polymorphism of lactate dehydrogenase isoenzymes in the carp (Cyprinus carpio) apparently due to a "null allele". Biochem Genet (1973) 1.12

Prognosis and life expectancy in chronic liver disease. Dig Dis Sci (1995) 1.12

Single voltage-dependent potassium channels in rat peripheral nerve membrane. J Physiol (1993) 1.12

Echinococcus granulosus revisited: radiologic patterns seen in pediatric and adult patients. AJR Am J Roentgenol (2001) 1.12

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. J Med Genet (1998) 1.11

Overrepresentation of 3q and 8q material and loss of 18q material are recurrent findings in advanced human ovarian cancer. Genes Chromosomes Cancer (1996) 1.10

Plant biochemistry of xenobiotics: isolation and properties of soybean O- and N-glucosyl and O- and N-malonyltransferases for chlorinated phenols and anilines. Arch Biochem Biophys (1991) 1.10

Detection of T helper responses, but not of human papillomavirus-specific cytotoxic T lymphocyte responses, after peptide vaccination of patients with cervical carcinoma. J Immunother (2000) 1.09

EEG driving responses as a function of monoamine oxidase. Electroencephalogr Clin Neurophysiol (1974) 1.09

Interface reactions between machinable bioactive glass-ceramics and bone. J Biomed Mater Res (1985) 1.08

Ion channels in human axons. J Neurophysiol (1993) 1.08

[Autoradiographic studies on X-autosomal translocation in man: 45,X.15-,tan(15qZq+)+]. Cytogenetics (1971) 1.08

Delineation of human papillomavirus type 18 enhancer binding proteins: the intracellular distribution of a novel octamer binding protein p92 is cell cycle regulated. Nucleic Acids Res (1991) 1.08

Block of neuronal tetrodotoxin-resistant Na+ currents by stereoisomers of piperidine local anesthetics. Anesth Analg (2000) 1.08

Combined liver and kidney transplantation. Lancet (1984) 1.07

The expression of EGF receptors, EGF-like factors and c-myc in ovarian and cervical carcinomas and their potential clinical significance. Anticancer Res (1990) 1.07

A new ensemble-based algorithm for identifying breath gas marker candidates in liver disease using ion molecule reaction mass spectrometry. Bioinformatics (2009) 1.06

Reinforced intradermal hepatitis B vaccination in hemodialysis patients is superior in antibody response to intramuscular or subcutaneous vaccination. Am J Kidney Dis (1998) 1.06

A case with 46, XX, del (11) (q21). Clin Genet (1974) 1.05

Prognosis in nonalcoholic steatohepatitis. Gastroenterology (1995) 1.05

Delineation of the 6p22 amplification unit in urinary bladder carcinoma cell lines. Cancer Res (2000) 1.05

Tetrodotoxin-resistant action potentials in dorsal root ganglion neurons are blocked by local anesthetics. Pain (2000) 1.05

Isochores and replication time zones: a perfect match. Cytogenet Genome Res (2007) 1.05

Ethanol reduces excitability in a subgroup of primary sensory neurons by activation of BK(Ca) channels. Eur J Neurosci (2001) 1.05

[Wilson's disease]. Dtsch Med Wochenschr (1996) 1.05

A K+ channel in Xenopus nerve fibres selectively blocked by bee and snake toxins: binding and voltage-clamp experiments. J Physiol (1990) 1.04

Expression and potential role of Fas-associated phosphatase-1 in ovarian cancer. Am J Pathol (2001) 1.04

Protein-tyrosine phosphatase 1D modulates its own state of tyrosine phosphorylation. J Biol Chem (1995) 1.04

Interferon-alpha induces circulating tumor necrosis factor receptor p55 in humans. Blood (1995) 1.03

Human axons contain at least five types of voltage-dependent potassium channel. J Physiol (1999) 1.02

PTP1D is a positive regulator of the prolactin signal leading to beta-casein promoter activation. EMBO J (1996) 1.02

Electrophysiological and neurobiochemical evidence for the blockade of a potassium channel by dendrotoxin. Naunyn Schmiedebergs Arch Pharmacol (1985) 1.02

Two types of TTX-resistant and one TTX-sensitive Na+ channel in rat dorsal root ganglion neurons and their blockade by halothane. Eur J Neurosci (1998) 1.02

Effect of neurotropic virus infection on neuronal and inducible nitric oxide synthase activity in rat brain. J Neurovirol (1995) 1.02

Differential chromatid staining by in vivo treatment as a mutagenicity test system. Nature (1976) 1.01

Uneven distribution of K+ channels in soma, axon and dendrites of rat spinal neurones: functional role of the soma in generation of action potentials. J Physiol (1998) 1.01

A comparison of the expression pattern of five genes of the family of small leucine-rich proteoglycans during mouse development. J Bone Miner Res (2000) 1.01

Na+-activated K+ channels in small dorsal root ganglion neurones of rat. J Physiol (1998) 1.01

ZOO-FISH analysis: cat and human karyotypes closely resemble the putative ancestral mammalian karyotype. Chromosome Res (1995) 1.01

Endogenous production of methanol after the consumption of fruit. Alcohol Clin Exp Res (1997) 1.00