Search results for "BN"
showing 10 items of 1136 documents
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.
2001
Clinical and molecular studies are reported on a family (MRX73) of five males with non-specific X-linked mental retardation (XLMR). A total of 33 microsatellite and RFLP markers was typed. The gene for this XLMR condition was been linked to DXS1195, with a lod score of 2.36 at theta = 0. The haplotype and multipoint linkage analyses suggest localization of the MRX73 locus to an interval of 2 cM defined by markers DXS8019 and DXS365, in Xp22.2. This interval contains the gene of Coffin-Lowry syndrome (RSK2), where a missense mutation has been associated with a form of non-specific mental retardation. Therefore, a search for RSK2 mutations was performed in the MRX73 family, but no causal muta…
Application of transvaginal and abdominal three-dimensional ultrasound for the detection or exclusion of malformations of the fetal face
1997
In a total of 618 pregnant women between 9 and 37 weeks' gestation, the fetal face was evaluated by two-dimensional and three-dimensional ultrasound imaging as part of a level III screening evaluation for fetal anomalies. A three-dimensional endovaginal probe (5 MHz) was used for examinations at between 9 and 15 weeks, and an abdominal three-dimensional probe (3.5 MHz) was used after 15 weeks. Three different three-dimensional image display modes were employed: (1) the orthogonal display; (2) the surface display; and (3) the transparent display. When we studied the three-dimensional orthogonal displays in 125 cases evaluated by abdominal ultrasound, we found that the facial profile shown in…
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
2009
International audience; Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend their respective functions and better understand the multitude of diseases in which these two genes are involved. In 1995 we created a locus-specific database (LSDB) for FBN1 mutations with the Universal Mutation Database (UMD) tool. To facilitate comparison of …
On sigma-subnormal subgroups of factorised finite groups
2020
Abstract Let σ = { σ i : i ∈ I } be a partition of the set P of all prime numbers. A subgroup X of a finite group G is called σ-subnormal in G if there is chain of subgroups X = X 0 ⊆ X 1 ⊆ ⋯ ⊆ X n = G with X i − 1 normal in X i or X i / C o r e X i ( X i − 1 ) is a σ i -group for some i ∈ I , 1 ≤ i ≤ n . In the special case that σ is the partition of P into sets containing exactly one prime each, the σ-subnormality reduces to the familiar case of subnormality. If a finite soluble group G = A B is factorised as the product of the subgroups A and B, and X is a subgroup of G such that X is σ-subnormal in 〈 X , X g 〉 for all g ∈ A ∪ B , we prove that X is σ-subnormal in G. This is an extension…
On finite soluble groups in which Sylow permutability is a transitive relation
2003
A characterisation of finite soluble groups in which Sylow permutability is a transitive relation by means of subgroup embedding properties enjoyed by all the subgroups is proved in the paper. The key point is an extension of a subnormality criterion due to Wielandt.
Interaction-induced spin polarization in quantum dots.
2010
The electronic states of lateral many electron quantum dots in high magnetic fields are analyzed in terms of energy and spin. In a regime with two Landau levels in the dot, several Coulomb blockade peaks are measured. A zig-zag pattern is found as it is known from the Fock-Darwin spectrum. However, only data from Landau level 0 show the typical spin-induced bimodality, whereas features from Landau level 1 cannot be explained with the Fock-Darwin picture. Instead, by including the interaction effects within spin-density-functional theory a good agreement between experiment and theory is obtained. The absence of bimodality on Landau level 1 is found to be due to strong spin polarization.
Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series
2013
Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A thorough genetic screening, including most of the known genes involved in this disease, was performed and analyzed in this longitudinal descriptive study. Clinical data were analyzed and compared among the genetic subgroups. Results: Molecular diagnosis was accomplished in 365 of 438 patients (83.3%), with a higher success rate in demyelinating forms of the disease. The CMT1A duplication (PMP22 gene) was the most frequent genetic diagnosis (50.4%), followed by mutations in the GJB1…
Le langage philosophique de l’Empereur Frédéric II dans le Questions Siciliennes de Ibn Sab'in et l’Aiguillon des disciples de Ja’aqov Anatoli
2009
Depuis quelques années, un groupe de recherche qui relie l’Officina di Studi Medievali et la faculté de Lettres et Philosophie de Palerme poursuit une recherche qui a pour but de remonter directement à la source du ferment intellectuel de la cour de Frédéric II, en traduisant les oeuvres dont on avait une idée approximative du contenu, et en commentant des textes jusque-là connus surtout par leur titre et leur contenu approximatif. Les deux premiers résultats visibles de ce travail sont les textes récemment publiés: al-Masa’il al-siqilliyya (Les questions siciliennes) de Ibn Sab‘in, philosophe et soufi musulman , et le Malmad ha-talmidim (L’aiguillon des disciples) de Ja’aqov Anatoli , phil…
Dimensión socio-laboral de las relaciones comerciales trasatlánticas: algunas lecciones del pasado.
2022
En la cumbre UE-EE.UU. del pasado 15 de junio de 2021, la Unión Europea y los Estados Unidos realizaron una declaración conjunta en la que anunciaron una asociación transatlántica renovada para la era posterior a la pandemia. De manera que en el momento en el que se refuerzan las negociaciones comerciales entre la UE y EE.UU. vale la pena analizar hasta dónde se llegó en las negociaciones del Acuerdo Transatlántico sobre Comercio e Inversión en el marco de la OMC, en particular en relación a los aspectos más controvertidos desde la perspectiva social. Lo que incluye un análisis comparado específicamente enfocado al tratamiento del desplazamiento de trabajadores en el AGCS y en la Directiva …