PubRank

S Langlois

Author PubWeight™ 67.65‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Evidence for multi-site closure of the neural tube in humans. Am J Med Genet 1993 2.16
2 First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet 1987 1.70
3 Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 2005 1.68
4 Absent cavum with intact septum pellucidum and corpus callosum may indicate midline brain abnormalities. Ultrasound Obstet Gynecol 2013 1.41
5 A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. Am J Hum Genet 1988 1.39
6 Phenotype of maternal UPD(14) Am J Med Genet 1996 1.38
7 Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet 1993 1.34
8 Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993 1.33
9 Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum Genet 1993 1.32
10 The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 1999 1.21
11 Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 1997 1.21
12 Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am J Hum Genet 1997 1.12
13 Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet 1998 1.12
14 Activation of the extracellular signal-regulated protein kinase (ERK) cascade by membrane-type-1 matrix metalloproteinase (MT1-MMP). FEBS Lett 2001 1.11
15 Metoprolol withdrawal phenomena: mechanism and prevention. Clin Pharmacol Ther 1982 1.03
16 Parental and meiotic origin of triploidy in the embryonic and fetal periods. Clin Genet 2000 1.03
17 Clinical practice guidelines for the management of anemia coexistent with chronic renal failure. Canadian Society of Nephrology. J Am Soc Nephrol 1999 1.01
18 Comparison of withdrawal phenomena after propranolol, metoprolol and pindolol. Br J Clin Pharmacol 1982 1.01
19 Treatment of familial hypercholesterolemia in children and adolescents: effect of lovastatin. Canadian Lovastatin in Children Study Group. Pediatrics 1996 1.01
20 Mutational and expression analysis of the chromosome 12p candidate tumor suppressor genes in pre-B acute lymphoblastic leukemia. Leukemia 2004 1.00
21 Diode-laser absorption technique for simultaneous measurements of multiple gasdynamic parameters in high-speed flows containing water vapor. Appl Opt 1994 0.98
22 Canadian survey of clinical status at dialysis initiation 1998-1999: a multicenter prospective survey. Clin Nephrol 2002 0.98
23 Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A 2010 0.96
24 V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet A 2006 0.96
25 Infrared thermographic imaging, magnetic resonance imaging, CT scan and myelography in low back pain. Br J Rheumatol 1990 0.94
26 Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. Am J Hum Genet 1996 0.91
27 Increased parental ages and uniparental disomy 15: a paternal age effect? Eur J Hum Genet 1993 0.90
28 Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Am J Med Genet 1996 0.87
29 Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. Am J Med Genet 1990 0.87
30 [Epidemiological study on the sexuality of adolescent college students]. Union Med Can 1986 0.86
31 Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 1997 0.86
32 Antihypertensive effect of indapamide with special emphasis on renal prostaglandin production. Curr Med Res Opin 1983 0.86
33 Cardiac hyper- and hyporesponsiveness after pindolol withdrawal. Clin Pharmacol Ther 1982 0.85
34 Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. Clin Genet 1999 0.84
35 Structural and functional analysis of a new desmin variant causing desmin-related myopathy. Hum Mutat 2001 0.84
36 Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn 1996 0.84
37 A polymorphic DNA probe located to human chromosome 4p16 (D4S62). Nucleic Acids Res 1987 0.84
38 Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 1996 0.83
39 Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases. Am J Med Genet 1999 0.83
40 Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. J Med Genet 1997 0.82
41 Comparative genomic hybridization: a new approach to screening for intrauterine complete or mosaic aneuploidy. Am J Med Genet 2000 0.82
42 Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am J Med Genet 1998 0.82
43 Hemodynamic and hormonal changes during erythropoietin therapy in hemodialysis patients. J Am Soc Nephrol 1998 0.82
44 Evaluation of the effectiveness of digital radiography in emergency situations. Australas Radiol 2002 0.81
45 Association study between schizophrenia and monoamine oxidase A and B DNA polymorphisms. Psychiatry Res 1996 0.81
46 An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta. Clin Genet 2000 0.81
47 Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis. Am J Med Genet 1988 0.81
48 A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J Clin Invest 2000 0.81
49 Comparison of withdrawal phenomena after propranolol, metoprolol, and pindolol. Am Heart J 1982 0.81
50 Midazolam: kinetics and effects on memory, sensorium, and haemodynamics. Br J Clin Pharmacol 1987 0.80
51 Clinical and radiological predictors of complete excision in breast-conserving surgery for primary breast cancer. Aust N Z J Surg 1998 0.80
52 Family history and obstetric complications in deficit and non-deficit schizophrenia: preliminary results. Eur Psychiatry 1998 0.80
53 Ouabain-insensitive net sodium influx in erythrocytes of normotensive and essential hypertensive humans. Proc R Soc Lond B Biol Sci 1982 0.79
54 Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. J Med Genet 1996 0.78
55 Issues in molecular genetic testing of individuals with suspected early-onset familial Alzheimer's disease. Alzheimer Dis Assoc Disord 1994 0.78
56 [Comparative evaluation of quality of life in patients with schizophrenia treated with conventional versus atypical neuroleptics: results of a transversal study]. Encephale 2006 0.78
57 Outcome of prenatally diagnosed isolated clubfoot. Ultrasound Obstet Gynecol 2010 0.78
58 Analysis of nine pregnancies with confined placental mosaicism for trisomy 2. Prenat Diagn 1996 0.78
59 Electrochemical engineering approach to the irrigation of tooth canals under the influence of a vibrating file. J Biomed Eng 1989 0.78
60 Tropical diseases in Canada. Can Med Assoc J 1979 0.78
61 Prevention of venous thrombosis with minidose warfarin after joint replacement. BMJ 1991 0.78
62 Frequency of fetal cells in sorted subpopulations of nucleated erythroid and CD34+ hematopoietic progenitor cells from maternal peripheral blood. Blood 1997 0.78
63 [Depressive symptoms and negative symptoms during schizophrenia]. Encephale 1995 0.77
64 Recommendations for sick-leave from work for patients with hypertension. Canadian Hypertension Society. Can J Cardiol 1996 0.77
65 Plasma endothelin levels and blood pressure in hemodialysis and in CAPD patients. Effect of subcutaneous erythropoietin replacement therapy. Clin Exp Hypertens 1994 0.77
66 Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent. Clin Genet 1999 0.77
67 Labetalol infusion in hypertensive emergencies. Clin Pharmacol Ther 1985 0.77
68 Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia. Ultrasound Obstet Gynecol 2014 0.76
69 Effect of recombinant human erythropoietin therapy on ambulatory blood pressure in normotensive and in untreated borderline hypertensive hemodialysis patients. Am J Hypertens 1995 0.76
70 Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy. Prenat Diagn 2001 0.76
71 Comparative trial of indapamide and hydrochlorothiazide in essential hypertension, with forearm plethysmography. J Cardiovasc Pharmacol 1984 0.76
72 Restrictive antibiotherapy after renal transplantation. Can Med Assoc J 1979 0.75
73 Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1. Am J Med Genet 1999 0.75
74 Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier. Fetal Diagn Ther 2004 0.75
75 Acute exposure to aliphatic hydrocarbons: an unusual cause of acute tubular necrosis. Arch Intern Med 1998 0.75
76 Illustration of genetic syndromes in the nursery. Am J Med Genet A 2006 0.75
77 Month of birth in deficit and non-deficit schizophrenic patients. Eur Psychiatry 1999 0.75
78 DNA typing in hereditary disease. J Chromatogr 1991 0.75
79 [Deficit: the value and difficulty of defining the primary or secondary character of observed symptoms]. Encephale 1996 0.75
80 [Various modes of presentation of tuberculosis in hemodialysis patients]. Union Med Can 1983 0.75
81 [Vasodilators. 2-Treatment of arterial hypertension, cardiac insufficiency and peripheral vascular diseases]. Union Med Can 1981 0.75
82 Comparison of iterative and monte carlo methods for calculation of the Aureole about a point source in the earth's atmosphere. Appl Opt 1999 0.75
83 Insufficient evidence to invoke defects in or around the A-I gene as the cause for familial hypoalphalipoproteinemia. Atherosclerosis 1987 0.75
84 Pharmacokinetic study of ioxaglate, a low osmolality contrast medium, in patients with renal failure. Int J Clin Pharmacol Ther Toxicol 1986 0.75
85 Pharmacokinetics of diltiazem in patients undergoing continuous ambulatory peritoneal dialysis. J Clin Pharmacol 1988 0.75
86 Standardization of BCG multiple puncture 40 mg and BCG live (intravesical) Theracys/BCG therapeutic Immucyst. Dev Biol Stand 1992 0.75
87 [Anaesthetic management for caesarean delivery and acute myocardial infarction by spontaneous coronary dissection]. Ann Fr Anesth Reanim 2011 0.75
88 Indapamide versus hydrochlorothiazide in essential hypertension: measurement of peripheral resistance using plethysmography. Curr Med Res Opin 1983 0.75
89 Plasma and peritoneal endothelin levels and blood pressure in CAPD patients with or without erythropoietin replacement therapy. Clin Nephrol 1998 0.75
90 [Haemophagocytic syndrome in pregnancy: a case report]. Ann Fr Anesth Reanim 2012 0.75
91 Cost analysis of kidney transplantation with cyclosporin A. Transplant Proc 2000 0.75
92 [Vasodilators. 1- Main components]. Union Med Can 1981 0.75
93 Raman spectroscopy of free-standing individual semiconducting single-wall carbon nanotubes. J Phys Chem B 2006 0.75
94 Assay of diltiazem and deacetyldiltiazem by capillary gas chromatography. J Chromatogr 1987 0.75
95 [Diuretics in the treatment of arterial hypertension]. Union Med Can 1982 0.75
96 General design of the International Fusion Materials Irradiation Facility deuteron injector: source and beam line. Rev Sci Instrum 2010 0.75