PubRank

D Weil

Author PubWeight™ 114.42‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997 3.26
2 The translational regulator CPEB1 provides a link between dcp1 bodies and stress granules. J Cell Sci 2005 2.86
3 A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 1997 2.68
4 Tuberculosis treatment programmes in low-income countries. Lancet 1994 2.31
5 Regulation of pim and myb mRNA accumulation by interleukin 2 and interleukin 3 in murine hematopoietic cell lines. J Biol Chem 1988 2.19
6 Targets for global tuberculosis control. Int J Tuberc Lung Dis 2006 2.16
7 A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 2005 2.11
8 Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene. J Biol Chem 1985 2.09
9 Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999 2.00
10 Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet 1982 1.98
11 Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet 1986 1.92
12 Nosocomial Legionnaires' disease caused by aerosolized tap water from respiratory devices. J Infect Dis 1982 1.81
13 Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A 1982 1.78
14 Systematic screening for active tuberculosis: rationale, definitions and key considerations. Int J Tuberc Lung Dis 2013 1.70
15 In vivo kinetics of mRNA splicing and transport in mammalian cells. Mol Cell Biol 2002 1.63
16 Connexin 26 gene linked to a dominant deafness. Nature 1998 1.62
17 Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 1997 1.59
18 Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet 1985 1.53
19 An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 1999 1.44
20 Endemic and epidemic aspergillosis associated with in-hospital replication of Aspergillus organisms. J Infect Dis 1991 1.38
21 The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2. Am J Hum Genet 1984 1.30
22 GW body disassembly triggered by siRNAs independently of their silencing activity. Nucleic Acids Res 2007 1.29
23 Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum Genet 1997 1.26
24 Organization of the human pro-alpha 2(I) collagen gene. J Biol Chem 1987 1.24
25 Human cellular fibronectin: comparison of the carboxyl-terminal portion with rat identifies primary structural domains separated by hypervariable regions. Biochemistry 1985 1.23
26 Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet 2008 1.21
27 Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1). Gene 1989 1.21
28 The structural gene for aldolase B (ALDB) maps to 9q13----32. Ann Hum Genet 1985 1.19
29 A specific promoter of the sensory cells of the inner ear defined by transgenesis. Hum Mol Genet 2001 1.19
30 Torsion of the gallbladder in children. J Pediatr Surg 1994 1.17
31 Assignment of the gene for F-type phosphofructokinase to human chromosome 10 by somatic cell hybridization and specific immunoprecipitation. Ann Hum Genet 1980 1.17
32 Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet 1986 1.14
33 Prevalence and significance of Legionella pneumophila contamination of residential hot-tap water systems. J Infect Dis 1985 1.14
34 Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 1997 1.13
35 Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am J Hum Genet 1999 1.10
36 Treatment of thyroid associated ophthalmopathy with periocular injections of triamcinolone. Br J Ophthalmol 2004 1.10
37 Further evidence for the dispersion of the human fibrillar collagen genes. Am J Hum Genet 1986 1.09
38 In vivo cooperation between introns during pre-mRNA processing. Genes Dev 1993 1.06
39 Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. Hum Mol Genet 1997 1.05
40 The pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens. Nucleic Acids Res 1987 1.04
41 Programmatic approaches to screening for active tuberculosis. Int J Tuberc Lung Dis 2013 1.04
42 [Localization of the gene for human acid alpha-glucosidase (alpha-GLUa) on the 17q21 to 17qter by interspecific hybridization (author's transl)]. Hum Genet 1979 1.02
43 Isolation and characterization of the human fibrillar collagen genes. Ann N Y Acad Sci 1985 1.02
44 Outbreak of JK diphtheroid infections associated with environmental contamination. J Clin Microbiol 1984 1.01
45 Analysis of the promoter region and the N-propeptide domain of the human pro alpha 2(I) collagen gene. Nucleic Acids Res 1985 1.01
46 Tuberculosis and poverty: what is being done. Int J Tuberc Lung Dis 2011 0.98
47 Accumulation of mature mRNA in the nuclear fraction of mammalian cells. FEBS Lett 1999 0.96
48 Laparoscopic adrenalectomy in children. Surg Endosc 2001 0.93
49 [Assignment of the creatine kinase BB gene to chromosome 14 by man-rodent cell hybridization (author's transl)]. Ann Genet 1980 0.93
50 Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43. Am J Hum Genet 1989 0.93
51 [Localization of the gene for ribulose-5-phosphate-3-epimerase on the 2q32 to 2qter segment by interspecies cellular hybridization]. Ann Genet 1982 0.93
52 Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness. Genomics 1995 0.92
53 A study of chromosomal changes associated with amplified dihydrofolate reductase genes in rat hepatoma cells and their dedifferentiated variants. J Cell Biol 1984 0.92
54 Falling among the sensorially impaired elderly. Arch Phys Med Rehabil 1990 0.91
55 The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1). Hum Genet 1986 0.90
56 Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. Cell Commun Adhes 2001 0.88
57 Regulation of pre-mRNA processing by src. Curr Biol 1995 0.88
58 [Localization of the LDHA-GST3-ESA4 synthetic group on human chromosome 11. Analyses of the classic man-rodent hybrids and of a new type (not adhering to the wall)]. Ann Genet 1983 0.88
59 [Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)]. Hum Genet 1977 0.88
60 Growth and phenotypic characteristics of human nevus cells in culture. J Invest Dermatol 1988 0.88
61 Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2. Genomics 1988 0.87
62 Assignment of the human coproporphyrinogen oxidase to chromosome 9. Hum Genet 1983 0.87
63 Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts. Hum Genet 1981 0.87
64 Assignment of the ABO-N-P-AK1 linkage group to chromosome 9 in man-hamster hybrids. Birth Defects Orig Artic Ser 1976 0.87
65 cDNA cloning, expression and mapping of human laminin B2 gene to chromosome 1q31. Hum Genet 1988 0.87
66 [Regional localization of the genes for human LDHb, TPI, ENO2, PepB, PGK, alphaGALa, HGPRT, G6PD by interspecific hybridization (author's transl)]. Hum Genet 1978 0.86
67 Linkage studies of enzyme markers in man-mouse somatic cell hybrids. Ann Hum Genet 1973 0.86
68 The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19. Hum Genet 1984 0.86
69 Erythrocyte glyoxalase I and esterase D polymorphisms in four French populations. Hum Hered 1980 0.85
70 Panel of twenty-five independent man-rodent hybrids for human genetic marker mapping. Ann Genet 1986 0.84
71 Technical problems and complications of a transanal pull-through for Hirschsprung's disease. Eur J Pediatr Surg 2006 0.83
72 Teratoma in an undescended testis detected prenatally. J Urol 1997 0.83
73 Complications employing the holmium:YAG laser. J Endourol 1998 0.83
74 The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific. Hum Genet 1985 0.82
75 Investigations on the chromosomal localizations of the human and chimpanzee interferon genes: possible role of chromosomes 9 and 13. Ann Genet 1980 0.82
76 Assignment of NADH-cytochrome b5 reductase (DIA1 locus) to human chromosome 22. Hum Genet 1978 0.81
77 The expression and relation of HLA, beta2-microglobulin and receptor for marmoset red blood cells on man/mouse and man/Chinese hamster hybrid cells. Eur J Immunol 1977 0.81
78 A study of hexosaminadases in interspecific hybrids and in GM2 gangliosidosis with a discussion on their genetic control. Ann Hum Genet 1975 0.81
79 Expression of the Wilms' tumor suppressor gene, WT1, is upregulated by leukemia inhibitory factor and induces monocytic differentiation in M1 leukemic cells. Blood 1998 0.80
80 The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene--a useful marker for human chromosome 2. Hum Genet 1986 0.80
81 Prevalence of measles antibodies in hospital personnel. Infect Control 1986 0.80
82 Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Genomics 1997 0.80
83 Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay. Hum Genet 1984 0.80
84 Aspirin inhibits vascular plasminogen activator activity in vivo. Studies utilizing a new assay to quantify plasminogen activator activity. J Clin Invest 1984 0.80
85 The structural gene for transferrin (TF) maps to 3q21----3qter. Ann Genet 1984 0.79
86 Secretion of tumor necrosis factor-alpha by fresh human acute nonlymphoblastic leukemic cells: role in the disappearance of normal CFU-GM progenitors. Exp Hematol 1990 0.79
87 Entry of algal symbionts into oocytes of the coral Litophyton arboreum. Tissue Cell 1992 0.79
88 Gene for apolipoprotein CII is on human chromosome 19. Somat Cell Mol Genet 1984 0.79
89 Escherichia coli sepsis from contaminated platelet transfusion. Arch Intern Med 1986 0.79
90 Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16. Hum Genet 1980 0.79
91 A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). Genomics 1995 0.79
92 Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness. Eur J Hum Genet 1999 0.79
93 The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22. Ann Hum Genet 1987 0.79
94 Spread of a toxic-shock syndrome-associated strain of Staphylococcus aureus and measurement of antibodies to staphylococcal enterotoxin F. J Infect Dis 1984 0.78
95 [Probable existence of a 2d AK locus linked with the PGM 1 -peptidase C group]. Ann Genet 1972 0.78
96 Assignment of the ABO-Np-AK1 linkage group to chromosome 9 in man-hamster hybrids. Cytogenet Cell Genet 1976 0.78
97 Evidence for synteny between a polio receptor gene and glucose phosphate isomerase (GPI) by analysis of human-mouse hybrids. Cytogenet Cell Genet 1976 0.78
98 Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts. Ann Hum Genet 1981 0.77
99 [Acute intestinal intussusception in infants and children and abdominal ultrasonography]. J Radiol 1986 0.77
100 [Prenatal diagnosis of sacro-coccygeal teratomas]. Chir Pediatr 1990 0.77
101 Caecal volvulus in the Marden-Walker syndrome: an uncommon association of two rare diseases in a 4-year old child. Case report. Acta Chir Belg 2004 0.77
102 Confirmation of the assignment of the gene for arylsulfatase A to chromosome 22 using somatic cell hybrids. Hum Genet 1979 0.76
103 DFNA3. Adv Otorhinolaryngol 2000 0.75
104 Control your inventory in a world of lean retailing. Harv Bus Rev 2000 0.75
105 Regional localization of the genes for human HEXB. PGK, GALA. HPRT, G6PD by somatic cell hybridization. Ann Genet 1981 0.75
106 [Determination of the pulmonary blood volume in humans by means of a double injection of dye without catheterization of the left atrium (LA)]. J Physiol (Paris) 1972 0.75
107 [Our clinical experience with sulpiride in psychiatry]. Sem Hop 1970 0.75
108 [Genetic control of hexosaminidases]. Arch Fr Pediatr 1978 0.75
109 [The use of enoxaparine in preventing deep venous thrombosis following total hip prosthesis. Randomized multicenter prospective trial]. Rev Chir Orthop Reparatrice Appar Mot 1988 0.75
110 Tay-Sachs and Sandhoff diseases: an hypothesis about the primary lesion based on hexosaminidase patterns in interspecific hybrids. Cytogenet Cell Genet 1975 0.75
111 [Reduction of acute intussusception in infants under ultrasonic control]. Presse Med 1986 0.75
112 [Value of ultrasonics in the diagnosis of acute intestinal invagination in infants and children. Apropos of a series of 60 cases]. Arch Fr Pediatr 1986 0.75
113 [Monitoring of intracranial pressure in 2 severe cases of Reye's syndrome]. Arch Fr Pediatr 1979 0.75
114 Unilocular hydatid cyst of the kidney in a child: a diagnostic challenge. Acta Chir Belg 1998 0.75
115 [Assignment of alpha-Fuc to1p in man and the chimpanzee and to chromosome 4 in the African green monkey]. Ann Genet 1978 0.75
116 [Localization of enolases 1 and 2 on chromosomes 1 and 12 respectively by the analysis of human-mouse hybrids]. Ann Genet 1977 0.75
117 Alpha-galactosidase: a dimeric enzyme dependent on a structural locus on the X chromosome. Birth Defects Orig Artic Ser 1975 0.75
118 Alpha-galactosidase: a dimeric enzyme dependent on a structural locus on the X chromosome. Cytogenet Cell Genet 1975 0.75
119 [Synteny of enolase (PPH) and the markers assigned to chromosome 1 (study of man-hamster and man-mouse cellular hybrids)]. Ann Genet 1974 0.75
120 Proceedings: Assignment of the second locus of adenylate kinase to chromosome 1p: preliminary data. Cytogenet Cell Genet 1974 0.75
121 [Answer to April e-Quid]. J Radiol 2007 0.75
122 [Genetic and epigenetic control of adenosine deaminase expression. Analysis of human and man-mouse hybrid cells (author's transl)]. Ann Genet 1981 0.75
123 [Localization of the gene for phosphoglycolate phosphatase (PGP) on the chromosome 16 by interspecific hybridization (author's transl)]. Hum Genet 1979 0.75
124 [Confirmation of the localization on human chromosome F19 of a structural gene of poliovirus receptors]. C R Acad Sci Hebd Seances Acad Sci D 1975 0.75
125 Hybridization of a human lymphoid leukaemia permanent cell line with mouse fibroblast cells. Biomedicine 1973 0.75
126 Reforming OSHA:. New Solut 1992 0.75
127 [Localization of a structural locus of erythrocyte inorganic pyrophosphatase on chromosome 10 in man by the method of human-hamster cellular hybridization]. C R Acad Sci Hebd Seances Acad Sci D 1975 0.75
128 Evidence for synteny between a polic receptor gene and glucose phosphate isomerase (GPI) by analysis of human-mouse hybrids. Birth Defects Orig Artic Ser 1976 0.75
129 [Localization of a structural locus of alpha-galactosidase on the X chromosome, using the human-hamster cell hybridization method]. C R Acad Sci Hebd Seances Acad Sci D 1974 0.75
130 Orbital leiomyoma: a case report. Ophthal Plast Reconstr Surg 1999 0.75
131 [Probable existence of hexosaminidase C locus located on chromosome 7 in man]. C R Acad Sci Hebd Seances Acad Sci D 1974 0.75
132 Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). Genomics 1998 0.75
133 Assignment to chromosome 12 of the gene coding for the human cell surface antigen CD9(p24) using the monoclonal antibody ALB6. Ann Genet 1985 0.75
134 Tay-Sachs and Sandhoff diseases: an hypothesis about the primary lesion based on hexosaminidase patterns in interspecific hybrids. Birth Defects Orig Artic Ser 1975 0.75
135 Internal drainage into an Onlay-Roux-en-Y jejunal loop in isolated pancreatic injury with ductal transection: short-term and long-term follow-up in two pediatric cases. Eur J Pediatr Surg 2000 0.75
136 Workshop on mapping by somatic cell hybridization. Prog Clin Biol Res 1982 0.75
137 [Genetic study of GM2 gangliosidosis (Tay-Sachs and Sandhoff) by the study of the hexosaminidases of the Sandhoff-rodents hybrids (mouse and hamster)]. Ann Genet 1975 0.75
138 [S1-type sciatica caused by D12-L1-type herniated disk]. Rev Rhum Mal Osteoartic 1974 0.75
139 New trends in the treatment of inborn errors of metabolism: an overview. Prog Clin Biol Res 1982 0.75
140 Assignment of the human gene for delta aminolevulinate dehydrase to chromosome 9 by somatic cell hybridization and specific enzyme immunoassay. Ann Hum Genet 1984 0.75