Results 261 to 270 of about 143,066 (307)
Some of the next articles are maybe not open access.
Inherited desmosomal disorders
Cell and Tissue Research, 2014Desmosomes serve as intercellular junctions in various tissues including the skin and the heart where they play a crucial role in cell-cell adhesion, signalling and differentiation. The desmosomes connect the cell surface to the keratin cytoskeleton and are composed of a transmembranal part consisting mainly of desmosomal cadherins, armadillo proteins ...
Liat, Samuelov, Eli, Sprecher
openaire +2 more sources
Inherited Coagulation Disorders
Veterinary Clinics of North America: Small Animal Practice, 1988Inherited coagulation disorders have been diagnosed in many breeds of dogs as well as in mongrels and cats. This article presents the different coagulation factor deficiencies that are known to exist in small animals. A description is given of each coagulation factor along with the relevant clinical signs, inheritance, and the breeds affected ...
J M, Fogh, I T, Fogh
openaire +2 more sources
Acta Psychiatrica Scandinavica, 1989
A compilation of all mental disorders with known genetic etiology is presented. Of 139 disorders the gene location is known in 36. Eleven of the genes are located on the X chromosome and 24 on the autosomes. When a gene for a disorder is located, linkage analysis can be used for diagnosis.
openaire +2 more sources
A compilation of all mental disorders with known genetic etiology is presented. Of 139 disorders the gene location is known in 36. Eleven of the genes are located on the X chromosome and 24 on the autosomes. When a gene for a disorder is located, linkage analysis can be used for diagnosis.
openaire +2 more sources
Inherited Mitochondrial Disorders
2011Though inherited mitochondrial disorders (MIDs) are most well known for their syndromic forms, for which widely known acronyms (MELAS, MERRF, NARP, LHON etc.) have been coined, the vast majority of inherited MIDs presents in a non-syndromic form. Since MIDs are most frequently multisystem disorders already at onset or during the disease course, a MID ...
openaire +2 more sources
Current Opinion in Hematology, 2003
Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used ...
openaire +2 more sources
Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used ...
openaire +2 more sources
Hematology, 2005
Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology.
openaire +2 more sources
Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology.
openaire +2 more sources
Inherited Disorders of Coagulation in Pregnancy
Clinical Obstetrics and Gynecology, 1995Normal physiology has been reviewed to serve as a basis for understanding the abnormalities leading to the inherited coagulation disorders. These abnormalities involve each of the three arms of the coagulation process: platelets, the coagulation cascade, and the clot prevention/lysis pathways.
F B, Rigby, T E, Nolan
openaire +2 more sources
Inherited disorders of platelets: an update
Current Opinion in Hematology, 2006To overview inherited syndromes that affect platelets and to discuss current data on the molecular origin and management of these rare diseases.An increasing number of genes responsible for inherited thrombocytopenias have been identified and these now extend to glycosylation defects.
Alan T, Nurden, Paquita, Nurden
openaire +2 more sources
Inherited disorders: the comparative picture
Australian Veterinary Journal, 1996SUMMARYWhen confronted with a novel familial disorder, veterinarians should consult McKusick's catalogue of inherited disorders in humans, called Mendelian Inheritance in Man (MIM), or its online version (OMIM), to see whether a similar disorder has been reported in humans.
F W, Nicholas, P A, Harper
openaire +2 more sources
Genetics of inherited platelet disorders
Hämostaseologie, 2014SummaryThe current review describes inherited platelet disorders, illustrates their clinical phenotype and molecular genetic defects. Platelets are the key molecules mediating haemostasis via adhesion, activation and clot formation at the site of injury.
Gothwal, Monika +2 more
openaire +3 more sources