Prenatal diagnosis and prenatal imaging of a de novo 46,X,der(Y)t(X;Y)(p22.13;q11.23) leading to functional disomy for the distal end of the X chromosome short arm from Xp22.13 in a phenotypically male fetus with posterior fossa abnormalities.

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Published in Prenat Diagn on November 01, 2008

Authors

A Ghosh, L Higgins, S A Larkins, C Miller, N Ostojic, W L Martin, M D Kilby

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Consequences of reducing nonresponse in a national telephone survey. Public Opin Q (2000) 7.67

Congenital anterior abdominal wall defects in England and Wales 1987-93: retrospective analysis of OPCS data. BMJ (1996) 6.97

Conduction and selectivity in potassium channels. J Membr Biol (1983) 6.41

Open-state substructure of single chloride channels from Torpedo electroplax. Philos Trans R Soc Lond B Biol Sci (1982) 5.26

Charybdotoxin, a protein inhibitor of single Ca2+-activated K+ channels from mammalian skeletal muscle. Nature (1985) 4.95

An improved technique for multiple organ harvesting. Surg Gynecol Obstet (1987) 4.73

Human p53 gene localized to short arm of chromosome 17. Nature (1986) 4.67

Nonequilibrium gating and voltage dependence of the ClC-0 Cl- channel. J Gen Physiol (1996) 4.24

Rearrangement of the p53 gene in human osteogenic sarcomas. Proc Natl Acad Sci U S A (1987) 4.21

Discrete Ba2+ block as a probe of ion occupancy and pore structure in the high-conductance Ca2+ -activated K+ channel. J Gen Physiol (1988) 4.05

Fertilization-independent seed development in Arabidopsis thaliana. Proc Natl Acad Sci U S A (1997) 3.87

Potassium blocks barium permeation through a calcium-activated potassium channel. J Gen Physiol (1988) 3.82

Single chloride channels from Torpedo electroplax. Activation by protons. J Gen Physiol (1983) 3.76

Opportunistic screening for genital chlamydial infection. II: prevalence among healthcare attenders, outcome, and evaluation of positive cases. Sex Transm Infect (2003) 3.65

Emergence of domestically acquired ceftriaxone-resistant Salmonella infections associated with AmpC beta-lactamase. JAMA (2000) 3.64

Semaphorin 3A is a chemoattractant for cortical apical dendrites. Nature (2000) 3.57

Mechanism of charybdotoxin block of the high-conductance, Ca2+-activated K+ channel. J Gen Physiol (1988) 3.48

Homodimeric architecture of a ClC-type chloride ion channel. Nature (1996) 3.47

Ribosomal protein genes are overexpressed in colorectal cancer: isolation of a cDNA clone encoding the human S3 ribosomal protein. Mol Cell Biol (1991) 3.45

Single streptomyces lividans K(+) channels: functional asymmetries and sidedness of proton activation. J Gen Physiol (1999) 3.42

Consensus statement on the live organ donor. JAMA (2000) 3.29

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol (2013) 3.28

Multi-ion conduction and selectivity in the high-conductance Ca++-activated K+ channel from skeletal muscle. Biophys J (1986) 3.24

KcsA: it's a potassium channel. J Gen Physiol (2001) 3.23

Dimeric structure of single chloride channels from Torpedo electroplax. Proc Natl Acad Sci U S A (1984) 3.22

Oscillations of glycolytic intermediates in yeast cells. Biochem Biophys Res Commun (1964) 3.22

Ionic selectivity, saturation, and block in a K+-selective channel from sarcoplasmic reticulum. J Gen Physiol (1980) 3.16

In situ studies of the primary immune response to (4-hydroxy-3-nitrophenyl)acetyl. III. The kinetics of V region mutation and selection in germinal center B cells. J Exp Med (1993) 3.13

Opportunistic screening for genital chlamydial infection. I: acceptability of urine testing in primary and secondary healthcare settings. Sex Transm Infect (2003) 3.00

Canagliflozin, a novel inhibitor of sodium glucose co-transporter 2, dose dependently reduces calculated renal threshold for glucose excretion and increases urinary glucose excretion in healthy subjects. Diabetes Obes Metab (2011) 3.00

Structure of the black beetle virus genome and its functional implications. J Mol Biol (1985) 2.91

Language discrimination by human newborns and by cotton-top tamarin monkeys. Science (2000) 2.89

Charybdotoxin block of single Ca2+-activated K+ channels. Effects of channel gating, voltage, and ionic strength. J Gen Physiol (1988) 2.87

Bis-quaternary ammonium blockers as structural probes of the sarcoplasmic reticulum K+ channel. J Gen Physiol (1982) 2.87

Oxytocic agents and neonatal hyperbilirubinaemia. Lancet (1972) 2.87

A controlled trial of isoniazid in persons with anergy and human immunodeficiency virus infection who are at high risk for tuberculosis. Terry Beirn Community Programs for Clinical Research on AIDS. N Engl J Med (1997) 2.84

Identification of a signaling pathway involved in calcium regulation of BDNF expression. Neuron (1998) 2.82

Problems associated with early discharge of newborn infants. Early discharge of newborns and mothers: a critical review of the literature. Pediatrics (1995) 2.82

Steady-state coupling of ion-channel conformations to a transmembrane ion gradient. Science (1990) 2.80

Silver as a probe of pore-forming residues in a potassium channel. Science (1995) 2.78

Mutant potassium channels with altered binding of charybdotoxin, a pore-blocking peptide inhibitor. Science (1989) 2.75

Functional reconstitution of a prokaryotic K+ channel. J Gen Physiol (1998) 2.66

A voltage-gated anion channel from the electric organ of Torpedo californica. J Biol Chem (1979) 2.65

Regulation of dendritic growth and remodeling by Rho, Rac, and Cdc42. Neuron (1997) 2.60

Voltage-gated cation conductance channel from fragmented sarcoplasmic reticulum: steady-state electrical properties. J Membr Biol (1978) 2.57

The charybdotoxin receptor of a Shaker K+ channel: peptide and channel residues mediating molecular recognition. Neuron (1994) 2.55

Calcium activation of Ras mediated by neuronal exchange factor Ras-GRF. Nature (1995) 2.47

Diverse CTXphis and evolution of new pathogenic Vibrio cholerae. Lancet (1998) 2.46

Effects of phospholipid surface charge on ion conduction in the K+ channel of sarcoplasmic reticulum. Biophys J (1984) 2.46

Laboratory and bedside evaluation of portable glucose meters. Am J Clin Pathol (1995) 2.35

Anti-tumor necrosis factor antibody therapy fails to prevent lethality after cecal ligation and puncture or endotoxemia. J Immunol (1992) 2.32

A voltage-dependent chloride conductance channel from Torpedo electroplax membrane. Ann N Y Acad Sci (1980) 2.26

Batrachotoxin-activated Na+ channels in planar lipid bilayers. Competition of tetrodotoxin block by Na+. J Gen Physiol (1984) 2.26

Epstein-Barr virus nuclear protein 3C modulates transcription through interaction with the sequence-specific DNA-binding protein J kappa. J Virol (1995) 2.25

Role of surface electrostatics in the operation of a high-conductance Ca2+-activated K+ channel. Biochemistry (1989) 2.25

Human immunodeficiency virus infection in disadvantaged adolescents. Findings from the US Job Corps. JAMA (1991) 2.24

Purification, reconstitution, and subunit composition of a voltage-gated chloride channel from Torpedo electroplax. Biochemistry (1994) 2.21

Cardiovascular risk factors associated with lower baseline cognitive performance in HIV-positive persons. Neurology (2010) 2.17

Food service and foods and beverages available at school: results from the School Health Policies and Programs Study 2000. J Sch Health (2001) 2.16

Allosteric effects of Mg2+ on the gating of Ca2+-activated K+ channels from mammalian skeletal muscle. J Exp Biol (1986) 2.14

High-level expression, functional reconstitution, and quaternary structure of a prokaryotic ClC-type chloride channel. J Gen Physiol (1999) 2.12

Primary and secondary structure of black beetle virus RNA2, the genomic messenger for BBV coat protein precursor. Nucleic Acids Res (1984) 2.11

Helical structure and packing orientation of the S2 segment in the Shaker K+ channel. J Gen Physiol (1999) 2.10

Symmetrical peripheral gangrene: a prospective study of 14 consecutive cases in a tertiary-care hospital in eastern India. J Eur Acad Dermatol Venereol (2009) 2.09

Thermodynamic and kinetic studies of the gating behavior of a K+-selective channel from the sarcoplasmic reticulum membrane. J Gen Physiol (1980) 2.06

Critical role of inducible nitric oxide synthase in degeneration of retinal capillaries in mice with streptozotocin-induced diabetes. Diabetologia (2007) 2.06

Oral mucositis and the clinical and economic outcomes of hematopoietic stem-cell transplantation. J Clin Oncol (2001) 2.05

A mutation in the Schizosaccharomyces pombe rae1 gene causes defects in poly(A)+ RNA export and in the cytoskeleton. J Biol Chem (1995) 2.05

Towards evidence based emergency medicine: best BETs from the Manchester Royal Infirmary. Glucagon for the treatment of symptomatic beta blocker overdose. Emerg Med J (2003) 2.04

Ca++-induced fusion of fragmented sarcoplasmic reticulum with artificial planar bilayers. J Membr Biol (1976) 2.04

A K+-selective, three-state channel from fragmented sarcoplasmic reticulum of frog leg muscle. J Membr Biol (1981) 2.04

Systemic AAV-9 transduction in mice is influenced by animal age but not by the route of administration. Gene Ther (2007) 2.01

Socio-economic status and mental morbidity in certain tribes and castes in India--a cross-cultural study. Br J Psychiatry (1980) 2.00

Conduction and block by organic cations in a K+-selective channel from sarcoplasmic reticulum incorporated into planar phospholipid bilayers. J Gen Physiol (1982) 2.00

Mechanism of charybdotoxin block of a voltage-gated K+ channel. Biophys J (1993) 1.99

Rifampin and pyrazinamide vs isoniazid for prevention of tuberculosis in HIV-infected persons: an international randomized trial. Terry Beirn Community Programs for Clinical Research on AIDS, the Adult AIDS Clinical Trials Group, the Pan American Health Organization, and the Centers for Disease Control and Prevention Study Group. JAMA (2000) 1.98

Health service use among low-risk newborns after early discharge with and without nurse home visiting. J Am Board Fam Pract (1997) 1.97

Molecular analysis of non-O1, non-O139 Vibrio cholerae associated with an unusual upsurge in the incidence of cholera-like disease in Calcutta, India. J Clin Microbiol (1998) 1.94

Trapping single ions inside single ion channels. Biophys J (1987) 1.94

Tetrameric stoichiometry of a prokaryotic K+ channel. Biochemistry (1997) 1.94

More on epidural needle wings. Anaesthesia (2006) 1.92

Association and prediction of amniotic fluid measurements for adverse pregnancy outcome: systematic review and meta-analysis. BJOG (2014) 1.91

Integrin alpha1beta1 and transforming growth factor-beta1 play distinct roles in alport glomerular pathogenesis and serve as dual targets for metabolic therapy. Am J Pathol (2000) 1.90

Tethered blockers as molecular 'tape measures' for a voltage-gated K+ channel. Nat Struct Biol (2000) 1.89

A decade of CLC chloride channels: structure, mechanism, and many unsettled questions. Annu Rev Biophys Biomol Struct (2000) 1.89

Orthotopic liver transplantation for primary sclerosing cholangitis. Ann Surg (1988) 1.89

Subplate neurons pioneer the first axon pathway from the cerebral cortex. Science (1989) 1.88

Interaction of charybdotoxin with permeant ions inside the pore of a K+ channel. Neuron (1992) 1.87

Nuclear Notch1 signaling and the regulation of dendritic development. Nat Neurosci (2000) 1.87

The lipid-protein interface of a Shaker K(+) channel. J Gen Physiol (2000) 1.85

Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol (2011) 1.85

Voltage-dependent blockade of muscle Na+ channels by guanidinium toxins. J Gen Physiol (1984) 1.84

Communicating health information through the entertainment media. Health Aff (Millwood) (2001) 1.83

Sequence of the black beetle virus subgenomic RNA and its location in the viral genome. Virology (1984) 1.82

Lack of repair of ultraviolet light damage in Mycoplasma gallisepticum. J Mol Biol (1977) 1.82

LR white resin and improved on-grid immunogold detection of vicilin, a pea seed storage protein. Cell Biol Int Rep (1984) 1.82

Effects of sleep and sleep deprivation on catecholamine and interleukin-2 levels in humans: clinical implications. J Clin Endocrinol Metab (1999) 1.81

Purification of charybdotoxin, a specific inhibitor of the high-conductance Ca2+-activated K+ channel. J Biol Chem (1986) 1.80

Isolated-patch recording from liposomes containing functionally reconstituted chloride channels from Torpedo electroplax. Proc Natl Acad Sci U S A (1982) 1.77

Role of rpoS (katF) in oxyR-independent regulation of hydroperoxidase I in Escherichia coli. Mol Microbiol (1994) 1.77