PubRank

E Roessler

Author PubWeight™ 50.18‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996 3.50
2 The interleukin (IL) 2 receptor beta chain is shared by IL-2 and a cytokine, provisionally designated IL-T, that stimulates T-cell proliferation and the induction of lymphokine-activated killer cells. Proc Natl Acad Sci U S A 1994 2.79
3 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 1999 2.57
4 Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet 2000 2.53
5 A lymphokine, provisionally designated interleukin T and produced by a human adult T-cell leukemia line, stimulates T-cell proliferation and the induction of lymphokine-activated killer cells. Proc Natl Acad Sci U S A 1994 2.51
6 The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 1999 2.00
7 Radioimmunotherapy of interleukin-2R alpha-expressing adult T-cell leukemia with Yttrium-90-labeled anti-Tac. Blood 1995 1.99
8 Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000 1.92
9 Characterization of transferable plasmids from Shigella flexneri 2a that confer resistance to trimethoprim, streptomycin, and sulfonamides. Plasmid 1986 1.63
10 A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol Psychiatry 2010 1.61
11 [Treatment of mild hypertension with captopril and captopril with hydrochlorothiazide. Impact on blood pressure values and quality of life]. Rev Med Chil 1993 1.38
12 Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 1996 1.35
13 Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet 2009 1.31
14 Transcranial magnetic stimulation of left temporoparietal cortex in three patients reporting hallucinated "voices". Biol Psychiatry 1999 1.25
15 The interleukin-2 receptor: a target for monoclonal antibody treatment of human T-cell lymphotrophic virus I-induced adult T-cell leukemia. Blood 1993 1.22
16 Human developmental disorders and the Sonic hedgehog pathway. Mol Med Today 1998 1.15
17 Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. Genetics 2001 1.12
18 Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 2007 1.06
19 Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet 1998 1.06
20 A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans. Mol Syndromol 2010 1.06
21 The interleukin 2 receptor (IL-2R): the IL-2R alpha subunit alters the function of the IL-2R beta subunit to enhance IL-2 binding and signaling by mechanisms that do not require binding of IL-2 to IL-2R alpha subunit. Proc Natl Acad Sci U S A 1992 1.04
22 Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum Genet 1998 0.99
23 Lipopolysaccharide-independent radioimmunoprecipitation and identification of structural and in vivo induced immunogenic surface proteins of Salmonella typhi in typhoid fever. Vaccine 1993 0.97
24 The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly. Cytogenet Genome Res 2002 0.96
25 Potentials evoked in human and monkey medial temporal lobe during auditory and visual oddball paradigms. Electroencephalogr Clin Neurophysiol 1992 0.93
26 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999 0.93
27 A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD. Mol Psychiatry 2011 0.89
28 [Primary cerebral lymphoma following+ kidney transplant: a case report and review of the literature]. Rev Med Chil 1994 0.88
29 ARP3beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells. Eur J Biochem 2000 0.84
30 Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. Mol Syndromol 2013 0.84
31 Mild hypoglycemia and impairment of brain stem and cortical evoked potentials in healthy subjects. Diabetes 1990 0.82
32 Electrophysiological studies of color processing in human visual cortex. Electroencephalogr Clin Neurophysiol 1993 0.82
33 TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. Mol Syndromol 2011 0.80
34 Everolimus versus azathioprine in a cyclosporine and ketoconazole-based immunosuppressive therapy in kidney transplant: 3-year follow-up of an open-label, prospective, cohort, comparative clinical trial. Transplant Proc 2010 0.79
35 Impact of pregnancy on the function of transplanted kidneys. Transplant Proc 2005 0.79
36 Effectiveness and cost of replacing a calcineurin inhibitor with sirolimus to slow the course of chronic kidney disease in renal allografts. Transplant Proc 2010 0.78
37 Long-term follow-up of renal donors. Transplant Proc 1998 0.78
38 Analysis of mobilization elements in plasmids from Shigella flexneri. J Bacteriol 1985 0.75
39 [A 2-year follow-up of a program for the control of cardiovascular risk factors among asymptomatic workers]. Rev Med Chil 1992 0.75
40 [Clinical and hemodynamic postoperative evaluation after open heart surgery for mitral stenosis]. Rev Med Chil 1970 0.75
41 [Renovascular hypertension. Diagnosis and results of surgical treatment (author's transl)]. Rev Med Chil 1974 0.75
42 [Preventive medical examination in asymptomatic workers: design and initial outcome of an institutional program]. Rev Med Chil 1991 0.75
43 [Reuse of the dialyzer coil in a chronic hemodialysis program]. Rev Med Chil 1973 0.75
44 [Potency disorders in the aging men. Psychiatric aspects]. Fortschr Med 1975 0.75
45 [Blood transfusion and-or peritoneal dialysis in the management of hepatic coma due to acute hepatitis]. Rev Med Chil 1968 0.75
46 The interleukin-2 receptor: a target for immunotherapy. Ann N Y Acad Sci 1993 0.75
47 [Transfer of the species-specific behavior componets by xenoplastic transplantation of the brain rudiments between Xenopus laevis and hymenochirus boettgeri (AMphibia, Anura)]. Rev Suisse Zool 1970 0.75
48 [Disturbances of sexual potence of the male in the psychiatric practice (author's transl)]. Andrologie 1973 0.75
49 [Pharmacotherapy and clinical research]. Rev Med Chil 1987 0.75
50 [Hypophosphatemic osteomalacia acquired after renal transplantation: a a cause of severe osteoporosis]. Rev Med Chil 1995 0.75
51 The interleukin-2 receptor: a target for immunotherapy. Adv Exp Med Biol 1992 0.75
52 [Patient's compliance of antihypertensive treatment. A follow-up study two therapeutic regimes (author's transl)]. Rev Med Chil 1981 0.75
53 [Perseverance in antihypertensive therapy: comparison of 2 follow-up systems]. Bol Oficina Sanit Panam 1981 0.75
54 [Osteomalacia induced by aluminum in a patient under chronic hemodialysis: successful treatment with desferrioxamine]. Rev Med Chil 1986 0.75
55 Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. Mol Genet Metab 1998 0.75
56 [Acute fatty metamorphosis of the liver in pregnancy]. Rev Med Chil 1969 0.75