نتایج جستجو برای: genetic syndromes

تعداد نتایج: 687913  

Journal: :IJWMIP 2015
Manuel Günther Stefan Böhringer Dagmar Wieczorek Rolf P. Würtz

Graphs labeled with complex-valued Gabor jets are one of the important data formats for face recognition and the classification of facial images into medically relevant classes like genetic syndromes. We here present an interpolation rule and an iterative algorithm for the reconstruction of images from these graphs. This is especially important if graphs have been manipulated for information pr...

Journal: :Current Biology 2013
Katrin Hermann Ulrich Klahre Michel Moser Hester Sheehan Therese Mandel Cris Kuhlemeier

Most flowering plants depend on animal vectors for pollination and seed dispersal. Differential pollinator preferences lead to premating isolation and thus reduced gene flow between interbreeding plant populations. Sets of floral traits, adapted to attract specific pollinator guilds, are called pollination syndromes. Shifts in pollination syndromes have occurred surprisingly frequently, conside...

Journal: :Seminars in hematology 2014
Lucy A Godley

Germline testing for familial predisposition to myeloid malignancies is becoming more common with the recognition of multiple familial syndromes. Currently, Clinical Laboratory Improvement Amendments-approved testing exists for the following: familial platelet disorder with propensity to acute myeloid leukemia, caused by mutations in RUNX1; familial myelodysplastic syndrome/acute myeloid leukem...

2017
Moustafa Abdelaal Hegazi Sommen Manou Hazem Sakr Guy Van Camp

Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous...

2012
Shubha Phadke Meenal Agarwal

through spinal defect and histopathological fi ndings.[2] Majority of NTDs are isolated/non-syndromic and are not associated with other congenital malformations. However in about 10% of the cases, NTD can be a part of genetic syndrome hence may follow Mendelian inheritance. The syndromes associated with neural tube defects include Walker-Warburg syndrome, Jarcho-Levin syndrome, Robert syndrome ...

Journal: :Journal of medical genetics 1994
A S Teebi

Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of gene...

Journal: :Pediatric annals 2015
Heather Little Deepak Kamat Lalitha Sivaswamy

Neurocutaneous syndromes are a diverse group of neurologic disorders with concurrent skin manifestations. Most neurocutaneous syndromes have a genetic basis and are believed to arise from a defect in the differentiation of the primitive ectoderm. In this regard, the skin can be a window into the central nervous system and can aid in the diagnosis of neurologic disease in children. The cutaneous...

Journal: :Arquivos de neuro-psiquiatria 2016
Paulo Victor Sgobbi de Souza Gabriel Novaes de Rezende Batistella Valéria Cavalcante Lino Wladimir Bocca Vieira de Rezende Pinto Marcelo Annes Acary Souza Bulle Oliveira

Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital my...

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