Search Results - "Oberlé, I"

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome by Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., Mandel, J. L.

“…The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance. Phenotypic expression has been…”
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Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome by Arveiler, B, Oberlé, I, Mandel, J L

“…We have ordered nine polymorphic DNA markers within detailed map of the proximal part of the human X chromosome long arm, extending from band q11 to q22, by…”
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The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus by Vincent, A, Dahl, N, Oberlé, I, Hanauer, A, Mandel, J L, Malmgren, H, Pettersson, U

“…The fragile X syndrome, which is the most common cause of inherited mental retardation, poses important diagnostic problems for genetic counseling. The…”
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New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus by Rousseau, F, Vincent, A, Oberlé, I, Mandel, J L

“…The polymorphic DNA marker DXS304 detected by probe U6.2 has recently been shown to be closer to the fragile X locus than previously available markers. Its…”
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More precise localization of the gene for Hunter syndrome by Le Guern, E, Couillin, P, Oberlé, I, Ravise, N, Boue, J

“…A linkage analysis between the Hunter syndrome locus (IDS) and four polymorphic loci of the Xq27-Xq28 region, DXS105, DXS98, DXS304, and DXS52, was performed…”
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Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation by VOELCKEL, M. A, PHILIP, N, PIQUET, C, PELLISSIER, M. C, OBERIE, I, BIRG, F, MATTEI, M. GG, MATTEI, J. F

“…The fragile site Xq27-28 was observed in several individuals of a large family. It is expressed at a high frequency among the carrier females, even as adults,…”
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Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation by Rousseau, F, Heitz, D, Oberlé, I, Mandel, J L

“…We have studied the patterns of mutation and X inactivation in female carriers of a fragile X mutation, to try to correlate them with various phenotypic…”
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Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development by Devys, D, Biancalana, V, Rousseau, F, Boué, J, Mandel, J L, Oberlé, I

“…The fragile X syndrome, the most common cause of inherited mental retardation, is characterized by unique genetic mechanisms, which include amplification of a…”
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Isolation of Sequences That Span the Fragile X and Identification of a Fragile X-Related CpG Island by Heitz, D., Rousseau, F., Devys, D., Saccone, S., Abderrahim, H., Le Paslier, D., Cohen, D., Vincent, A., Toniolo, D., Della Valle, G., Johnson, S., Schlessinger, D., Oberle, I., Mandel, J. L.

“…Yeast artificial chromosomes (YACs) were obtained from a 550-kilobase region that contains three probes previously mapped as very close to the locus of the…”
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Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences by Mandel, J L, Arveiler, B, Camerino, G, Hanauer, A, Heilig, R, Koenig, M, Oberlé, I

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Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis by Vincent, Anne, Hertz, Dominique, Petit, Christine, Kretz, Christine, Oberlé, Isabelle, Mandel, Jean-Louis

“…The fragile-X syndrome is the most frequent inherited form of mental retardation, with an incidence of 1 in 1,500 males. It is characterized by the presence of…”
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On some technical aspects of direct DNA diagnosis of the fragile X syndrome by Rousseau, F, Heitz, D, Biancalana, V, Oberlé, I, Mandel, J L

“…Direct DNA analysis of fragile X [Fra(X)] mutations has already shown its clear superiority for postnatal and prenatal diagnosis of the disorder and for…”
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Rapid PCR analysis of the St14 (DXS52) VNTR by RICHARDS, B, HEILIG, R, OBERLE, I, STORJOHANN, L, HORN, G. T

“…Some segments of the human genome exhibit polymorphism due to a variable number of tandem repeats (VNTR). The enzymatic amplification of VNTR loci can allow…”
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The Telomeric Region of the Human X Chromosome Long Arm: Presence of a Highly Polymorphic DNA Marker and Analysis of Recombination Frequency by Oberle, Isabelle, Drayna, Dennis, Camerino, Giovanna, White, Ray, Mandel, Jean-Louis

“…A DNA fragment (named St14) derived from the human X chromosome reveals a small family of related sequences that have been mapped to the Xq26-Xq28 region by…”
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Close Linkage of the Locus for X Chromosome-Linked Severe Combined Immunodeficiency to Polymorphic DNA Markers in Xq11-q13 by de Saint Basile, G., Arveiler, B., Oberlé, I., Malcolm, S., Levinsky, R. J., Lau, Y. L., Hofker, M., Debre, M., Fischer, A., Griscelli, C., Mandel, J. L.

“…The gene for X chromosome-linked severe combined immunodeficiency (SCID), a disease characterized by a block in early T-cell differentiation, has been mapped…”
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Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association by Oberlé, I, Boué, J, Croquette, M F, Voelckel, M A, Mattei, M G, Mandel, J L

“…We report on 3 families where the presence and segregation at high frequency of a fragile Xq27.3 site is not associated with the mutations and methylation…”
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From hemophilia B to hemophilia A via the fragile X locus: genes and recombination in the distal region of the human X chromosome long arm by Oberlé, I, Mandel, J L

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Improved DNA markers for efficient analysis of fragile X families by Heilig, R, Oberlé, I, Arveiler, B, Hanauer, A, Vidaud, M, Mandel, J L

“…We report the characteristics of two new probes that detect BclI RFLPs useful for analysis of fragile X families. With these two probes and a single blot, 34%…”
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Direct DNA analysis of fragile X syndrome in Spanish pedigrees by Tejada, I, Mornet, E, Biancalana, V, Oberlé, I, Boué, J, Mandel, J L, Boué, A

“…Eleven complete Spanish pedigrees with fragile X syndrome were analysed by Southern blotting with the DNA probe StB12.3 previously isolated and described by…”
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Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia by GUIOLI, S, ARVEILER, B, CAMERINO, G, BARDONI, B, NOTARANGELO, L. D, PANINA, P, DUSE, M, UGAZIO, A, OBERLE, I, DE SAINT BASILE, G, MANDEL, J. L

“…Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease…”
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