Results 21 to 30 of about 9,256,185 (298)
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1986 ABSTRACT:Two French-Canadian families with seven cases of hydrocephalus in two generations are presented. The pattern of inheritance is consistent with an X-linked recessive transmission. The clinical and pathologic characteristics of this entity are reviewed. The anomaly of adducted thumbs was present in one patient and its cause is considered.
R I, Kuzniecky +3 more
openaire +2 more sources
Frontiers in Neurology, 2023 Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis.
Sara Hafdaoui +5 more
doaj +1 more source
Clinical Immunology and Immunopathology, 1991 X-linked agammaglobulinemia (XLA) patients manifest a very low production of immunoglobulins (Ig) of all classes and plasma cells are virtually absent. The XLA gene plays a crucial role in the transition of pre-B cells to later B cell stages, as hardly any slg-positive B lymphocytes can be detected.
E, Timmers +4 more
openaire +2 more sources
X-linked retinoschisis: an update [PDF]
Journal of Medical Genetics, 2006 X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secreting retinal protein, retinoschisin ...
Sikkink, Stephen K. +4 more
openaire +3 more sources
Italian experience with Lesch-Nyhan patients and animal models of the disease
The EuroBiotech Journal, 2017 Lesch-Nyhan Disease (LND) is a rare X-linked genetic disease with hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, due to mutation in the encoding gene, located on the X-chromosome.
Micheli Vanna, Bertelli Matteo
doaj +1 more source
Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked: IPEX syndrome in pediatrics. [PDF]
Batna Journal of Medical SciencesImmune dysregulation, polyendocrinopathy, X-linked enteropathy (IPEX) is a rare genodermatosis associating dermatitis, enteropathy, type 1 diabetes, thyroiditis, hemolytic anemia and thrombocytopenia.
Aggoune Samira, Azeddine Tahiat
doaj +1 more source
IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]
, 2010 Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
core +1 more source
Evolutionary strata on the X chromosomes of the dioecious plant Silene latifolia: Evidence from new sex-linked genes [PDF]
, 2007 Despite its recent evolutionary origin, the sex chromosome system of the plant Silene latifolia shows signs of progressive suppression of recombination having created evolutionary strata of different X-Y divergence on sex chromosomes. However, even after
Bergero, Roberta +3 more
core +1 more source
Hypohidrotic ectodermal dysplasia with autosomal inheritance: A rare entity
Muller Journal of Medical Sciences and Research, 2019 Hypohidrotic ectodermal dysplasia (HED) is a rare disorder which is characterized by the involvement of all ectodermal derivatives and marked deficiency of sweating. It has a prevalence of 1: 100,000. X-linked recessive fashion is the most common pattern
Ayushi Lodha, Shylaja Someshwar
doaj +1 more source
Linked Data - the story so far [PDF]
, 2009 The term “Linked Data” refers to a set of best practices for publishing and connecting structured data on the Web. These best practices have been adopted by an increasing number of data providers over the last three years, leading to the creation of a ...
Bizer, Christian +2 more
core +2 more sources