Search results for " Dominant"

Skaņu rīku izmantošana valodas attīstības veicināšanai rotaļnodarbībās ar literatūras dominanti 5-6 gadus veciem bērniem

2017

Diplomdarbā ir veikts pētījums, lai noskaidrotu kā skaņu rīku izmantošana rotaļnodarbībās ar literatūras dominanti palīdz vecināt 5 – 6 gadu vecu bērnu valodas attīstību. Darbā ir analizēta teorētiskā literatūra par bērna valodas attīstību, rotaļām ar skaņām un skaņu rīkiem, rotaļnodarbības būtību un literatūras nozīmi pirmsskolas izglītības mācību saturā. Izpētīta X pirmsskolas izglītības iestādes grupu materiālā bāze – pieejamie skaņu rīki, kā arī veikta aptauja par skaņu rīku izmantošanas pieredzi pirmsskolas pedagoģiskajā procesā. Tāpat diplomdarba ietvaros tika veikta bērnu valodas attīstības izpēte pirms pedagoģiskā izmēģinājuma darbības un izstrādāta rotaļnodarbību kopa, kurā tiek iz…

HETEROGENITY OF AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN SICILY

2004

Plēsonīgo cenu jēdziens Latvijas konkurences tiesībās

2015

Plēsonīgo cenu stratēģijas realizēšana Latvijas doktrīnā līdz šim nav apskatīta. Lielākā problēma, kas saistīta ar plēsonīgajām cenām, ir plēsonīgo cenu piemērošanas nošķiršana no ikdienišķas biznesa prakses. Eiropas Savienības doktrīnā un Eiropas Savienības Tiesas praksē ir nostiprināti dažādi kritēriji, meklējot risinājumu iepriekš minētajai problēmai. Autors pētījuma gaitā analizē plēsonīgo cenu jēdzienu, kā arī Eiropas Savienības Tiesas praksi un tās piedāvātos kritērijus plēsonīgo cenu piemērošanas identificēšanai. Tāpat darba gaitā autors salīdzina Konkurences padomes nolēmumos nostiprinātos kritērijus ar Eiropas Savienības Tiesas praksi. Darbā, cita starpā, autors analizē arī Amerika…

La Corte di giustizia rinviene una fattispecie che si assumeva perduta: l'abuso di struttura

2023

The article provides an analysis on the relationship between Article 102 TEUF (and its scope) and EU Regulation No 139/04 on mergers

A mutation in myotilin causes spheroid body myopathy

2005

Background: Spheroid body myopathy (SBM) is a rare, autosomal dominant, neuromuscular disorder, which has only been previously reported in a single large kindred. Identification of the mutated gene in this disorder may provide insight regarding abnormal neuromuscular function. Methods: The authors completed a detailed clinical evaluation on an extensive kindred diagnosed with SBM. Genome-wide linkage analysis was performed to localize the disease gene to a specific chromosomal region. Further marker genotyping and screening of a positional, functional candidate gene were completed to detect the disease-causing mutation. Pathologic analysis of muscle biopsy was performed on three individuals…

Hereditary angioedema with a mutation in the plasminogen gene

2017

Background Hereditary angioedema (HAE) with normal C1-INH (HAEnCI) may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or functional mutations in other genes that are still unknown. We sought to identify and characterize a hitherto unknown type of HAE with normal C1-INH and without mutation in the F12 gene. Methods The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical data of patients. Results We detected a mutation in the plasminogen (PLG) gene in patients with HAEnCI. The mutation c.9886A>G was located in exon 9 leading to the missense mutation p.Lys330Glu (K330E) in the kringle 3 domain of the PLG protein. The mutation…

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease

2017

IF 5.340; International audience; The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mice knock-out for Bcl2 demonstrate growth retardation, severe polycystic kidney disease (PKD), gray hair and lymphopenia, and die prematurely after birth. Here, we report a 40-year-old male referred to for abdominal and thoracic aortic dissection with associated aortic root aneurysm, PKD, lymphocytopenia with a history of T cell lymphoblastic lymphoma, white hair since the age of 20, and learning difficulties. PKD, which was also detected in the father and sister, was related to an inherited PKD1 mutation. The combination of PKD with gray hair and lymphocytopenia was also r…

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

2000

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify …

New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis

1994

To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1). © 1994 Wiley-Liss, Inc.

Autosomal dominant and sporadic radio-ulnar synostosis.

1997

We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal dominant trait and was associated with a Dubois sign and relative shortness of metacarpals number 4 and 5 in two patients, and of number 2 in another patient, and of all phalanges of the 5th fingers. These observations suggest involvement of an ulnar developmental field. RUS does not seem to be rare in the Sicilian population.