PubRank

M Lalande

Author PubWeight™ 124.88‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 1984 7.73
2 UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997 5.97
3 Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 1989 4.72
4 Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci U S A 2000 4.54
5 Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci U S A 1986 3.54
6 Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 1989 3.22
7 Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet 1984 3.17
8 The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 1997 2.77
9 Homologous association of oppositely imprinted chromosomal domains. Science 1996 2.54
10 RAB22 and RAB163/mouse BRCA2: proteins that specifically interact with the RAD51 protein. Proc Natl Acad Sci U S A 1997 2.23
11 An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 1998 2.16
12 The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet 1997 1.88
13 Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 1998 1.87
14 Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet 1990 1.83
15 Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994 1.79
16 Inhibition of the G1-S transition of the cell cycle by inhibitors of deoxyhypusine hydroxylation. Biochim Biophys Acta 1994 1.62
17 Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet 1992 1.57
18 Molecular detection and differentiation of deletions in band 13q14 in human retinoblastoma. Cancer Genet Cytogenet 1986 1.47
19 Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Lancet 1992 1.37
20 The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum Mol Genet 1999 1.35
21 Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet 1991 1.30
22 Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female. Nucleic Acids Res 1986 1.26
23 Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nat Genet 1994 1.26
24 Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nat Genet 1992 1.25
25 FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet 1993 1.22
26 A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature 1993 1.19
27 Construction of a chromosome 16-enriched phage library and characterization of several DNA segments from 16p. Hum Genet 1987 1.18
28 Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region. Hum Mol Genet 1995 1.17
29 High resolution analysis of the timing of replication of specific DNA sequences during S phase of mammalian cells. Nucleic Acids Res 1983 1.11
30 Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. Hum Mol Genet 1993 1.11
31 Isolation of DNA sequences on human chromosome 21 by application of a recombination-based assay to DNA from flow-sorted chromosomes. Hum Genet 1988 1.08
32 Mimosine reversibly arrests cell cycle progression at the G1-S phase border. Cytometry 1991 1.07
33 Linkage analysis in familial Angelman syndrome. Am J Hum Genet 1993 1.07
34 The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics 1991 1.06
35 Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14. Genomics 1998 1.06
36 Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism. Hum Genet 1987 1.06
37 Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum Mol Genet 1993 1.05
38 A new class of reversible cell cycle inhibitors. Cytometry 1991 1.04
39 A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum Mol Genet 1998 1.04
40 Identification and characterization of three members of a novel subclass of protocadherins. Genomics 2001 1.02
41 The human gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats. Genomics 1994 1.01
42 On the parental origin of the deletion in Angelman syndrome. Hum Genet 1989 1.00
43 A physical map of the human Y-chromosome short arm. Genomics 1990 1.00
44 Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13. Hum Mol Genet 1992 1.00
45 Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus. Mol Cell Biol 1989 1.00
46 Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution. Nat Genet 1995 0.99
47 Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene 1985 0.97
48 The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7. Genomics 1991 0.96
49 High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Am J Hum Genet 1993 0.96
50 Quantitative analysis of the three regimes of DNA electrophoresis in agarose gels. Biopolymers 1988 0.96
51 Plasma levels of dantrolene following oral administration in malignant hyperthermia-susceptible patients. Anesthesiology 1988 0.96
52 Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res 1986 0.96
53 Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. Eur J Hum Genet 1999 0.95
54 Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview. Am J Med Genet 1993 0.93
55 Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Hum Genet 1997 0.92
56 Resolution of Schizosaccharomyces pombe chromosomes by field inversion gel electrophoresis. Nucleic Acids Res 1988 0.92
57 An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA. Hum Mol Genet 1999 0.91
58 High-resolution analysis of DNA replication domain organization across an R/G-band boundary. Mol Cell Biol 1997 0.90
59 Identification of inverted duplicated #15 chromosomes using bivariate flow cytometric analysis. Cytometry 1985 0.90
60 The human T cell receptor alpha-delta locus: a physical map of the variable, joining and constant region genes. Eur J Immunol 1988 0.89
61 A duplicated region is responsible for the poly(ADP-ribose) polymerase polymorphism, on chromosome 13, associated with a predisposition to cancer. Am J Hum Genet 1993 0.88
62 The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet 1995 0.88
63 The critical region for Angelman syndrome lies between D15S122 and D15S113. Am J Med Genet 1994 0.88
64 Complications of abortion performed under local anesthesia. Eur J Obstet Gynecol Reprod Biol 1998 0.87
65 Structure and organization of GABRB3 and GABRA5. Genomics 1997 0.87
66 Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. Genomics 1997 0.87
67 Isolation of new probes in the region of the Wilson disease locus, 13q14.2-->q14.3. Cytogenet Cell Genet 1993 0.86
68 Cytogenetic and flow cytometric studies of cells from patients with Fanconi's anemia. Cytogenet Cell Genet 1982 0.86
69 [Quality of life in HIV-infected children and adolescents under highly active antiretroviral therapy: change over time, effects of age and familial context]. Arch Pediatr 2005 0.85
70 Determination of DNA replication kinetics in synchronized human cells using a PCR-based assay. Nucleic Acids Res 1993 0.85
71 Construction of the physical map for three loci in chromosome band 13q14: comparison to the genetic map. Proc Natl Acad Sci U S A 1990 0.85
72 Development and use of metaphase chromosome flow-sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome. Cytometry 1984 0.84
73 Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes. Proc Natl Acad Sci U S A 1998 0.83
74 Angelman syndrome: how many genes to remain silent? Neurogenetics 1998 0.82
75 Diurnal variations in the transferases and hydrolases involved in glucuronide and sulfate conjugation of rat liver. Drug Metab Dispos 1985 0.81
76 Orientational dynamics of T2 DNA during agarose gel electrophoresis: influence of gel concentration and electric field strength. Biopolymers 1989 0.81
77 Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. J Med Genet 1992 0.81
78 Applications of fluorescence spectroscopy to molecular cytogenetics. Biopolymers 1985 0.79
79 Time-dependent variations in the organ extraction ratios of acetaminophen in rat. J Pharmacokinet Biopharm 1987 0.78
80 Rapid high-performance liquid chromatographic determination of ibuprofen in human plasma. J Chromatogr 1986 0.78
81 Three allele TaqI RFLP for probe 3-21 [D15S10] on chromosome 15q. Nucleic Acids Res 1989 0.78
82 Breakage of the human Y-chromosome short arm between two blocks of tandemly repeated DNA sequences. Genomics 1989 0.78
83 DNA-based detection of chromosome deletion and amplification: diagnostic and mechanistic significance. Cold Spring Harb Symp Quant Biol 1986 0.78
84 In and around SNRPN. Nat Genet 1994 0.78
85 [Pseudotumoral-like recurrence of visceral leishmaniasis in a seven-year-old girl]. Arch Pediatr 2009 0.77
86 Analysis of complex Y chromosome aberrations using a single DNA probe (Y-367). Cytogenet Cell Genet 1989 0.77
87 New fluorochromes, compatible with high wavelength excitation, for flow cytometric analysis of cellular nucleic acids. Cytometry 1984 0.77
88 Temporal variations in the pharmacokinetics of isoniazid and N-acetylisoniazid in rats. Drug Metab Dispos 1989 0.76
89 [Eruptive pseudoangiomatosis in infant and newborns]. Ann Dermatol Venereol 2005 0.76
90 [Pleural empyema in children: Montpellier's experience]. Arch Pediatr 2005 0.76
91 Isolation and structural characterization by spectroscopic methods of two glucuronide metabolites of mexiletine after N-oxidation and deamination. Drug Metab Dispos 1992 0.76
92 Analysis of randomly amplified flow-sorted chromosomes using the polymerase chain reaction. Genomics 1995 0.75
93 Detection of Saccharomyces cerevisiae chromosome size markers directly on Southern blots of pulsed-field gels with a single DNA hybridization probe. Nucleic Acids Res 1989 0.75
94 Experimental device and methods for studying milk deposit formation on heat exchange surfaces. Biotechnol Prog 1986 0.75
95 [Structured treatment interruption in HIV-infected adolescents]. Arch Pediatr 2009 0.75
96 Molecular genetic approaches to human diseases involving mental retardation. Am J Ment Defic 1984 0.75
97 Construction, analysis, and application to 46,XY gonadal dysgenesis of a recombinant phage DNA library from flow-sorted human Y chromosomes. Cytometry 1986 0.75
98 Ergotism related to interaction between nelfinavir and ergotamine. Am J Med 2001 0.75
99 [Consequences of exclusive breast-feeding in vegan mother newborn--case report]. Arch Pediatr 2009 0.75
100 2,6-Dimethylphenol: a new metabolite of mexiletine. Res Commun Chem Pathol Pharmacol 1987 0.75
101 Meta-hydroxymexiletine, a new metabolite of mexiletine. Isolation, characterization, and species differences in its formation. Drug Metab Dispos 1991 0.75
102 In memoriam: Samuel A. Latt (1938-1988). Cytometry 1989 0.75
103 High-performance liquid chromatographic method for the determination of indapamide in human whole blood. J Chromatogr 1993 0.75
104 Replication timing of CD4 and CD8 in single-positive peripheral blood lymphocytes. Cell Immunol 1999 0.75
105 In memoriam: Samuel A. Latt (1938-1988). Cytometry 1990 0.75
106 DNA gel electrophoresis: effect of field intensity and agarose concentration on band inversion. Biopolymers 1989 0.75
107 [Intravenous immunoglobulin-resistant Kawasaki disease with hemophagocytosis]. Arch Pediatr 2012 0.75
108 Determination of nalbuphine by high-performance liquid chromatography with electrochemical detection: application to clinical samples from postoperative patients. J Chromatogr 1988 0.75
109 Study of large DNA fragments in agarose gels by transient electric birefringence. Biopolymers 1990 0.75
110 [Hypertension in the absence of renal involvement during childhood Henoch-Schönlein purpura]. Arch Pediatr 2008 0.75
111 Washin and washout of isoflurane during cardiopulmonary bypass. Can J Anaesth 1988 0.75
112 Rapid gas chromatographic determination of serum salicylates after silylation. J Pharm Sci 1983 0.75
113 Differential properties of the microsomal deamination and hydroxylation reactions. Res Commun Chem Pathol Pharmacol 1983 0.75
114 Identification of a putative DNA replication origin in the gamma-aminobutyric acid receptor subunit beta3 and alpha5 gene cluster on human chromosome 15q11-q13, a region associated with parental imprinting and allele-specific replication timing. Gene 1996 0.75
115 [Turicella otitidis infection: otitis media complicated by mastoiditis]. Arch Pediatr 2009 0.75
116 The cellular distribution of the metabolic deamination of benzylamine. Life Sci 1980 0.75
117 Flow cytometry and FISH to investigate allele-specific replication timing and homologous association of imprinted chromosomes. Methods Mol Biol 2001 0.75