نتایج جستجو برای: neonatal progeroid syndrome

تعداد نتایج: 695789  

ژورنال: یافته 2017
تور, مریم, علیجانی رنانی, هوشنگ, مدهوشی, سیمین, مقیم زاده, فرزانه,

Background: To provide, maintain and promote the health of children as a vulnerable group in the health service has a special place. So, the first step in reducing mortality and improve their health, identify causes of morbidity and mortality. Materials and Methods: In this retrospective study, the main causes of neonate death in the case of neonatal who died in Aboozar hospital in 1390&nbsp...

2017
Raghavendra A Shamanna Deborah L Croteau Jong-Hyuk Lee Vilhelm A Bohr

Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA repair genes as well as in telomerase subunits are known to cause progeroid syndromes. Werner syndrome (WS), which is characterized by acceler...

2014
Sander Barnhoorn Lieneke M. Uittenboogaard Dick Jaarsma Wilbert P. Vermeij Maria Tresini Michael Weymaere Hervé Menoni Renata M. C. Brandt Monique C. de Waard Sander M. Botter Altaf H. Sarker Nicolaas G. J. Jaspers Gijsbertus T. J. van der Horst Priscilla K. Cooper Jan H. J. Hoeijmakers Ingrid van der Pluijm Laura J. Niedernhofer

As part of the Nucleotide Excision Repair (NER) process, the endonuclease XPG is involved in repair of helix-distorting DNA lesions, but the protein has also been implicated in several other DNA repair systems, complicating genotype-phenotype relationship in XPG patients. Defects in XPG can cause either the cancer-prone condition xeroderma pigmentosum (XP) alone, or XP combined with the severe ...

Journal: :Archives of Disease in Childhood - Fetal and Neonatal Edition 1995

Journal: :Japanese Journal of Clinical Immunology 2005

Journal: :The Annals of The Royal College of Surgeons of England 2016

Journal: :Journal of Nepal Paediatric Society 2016

انصاری, شهلا, وثوق, پروانه ,

    TAR syndrome (thrombocytopenia-Absent Radii) is characterised by the neonatal onset thrombocytopenia and bilateral absence or hypoplasia of the radii with normal organs. This syndrome is a rare hereditary condition with a recessive autosomal character. During the first months of life, prognosis is related to the severity of hemorrhage. This paper focuses on three infants who suffered from T...

Journal: :Clinics in Perinatology 2018

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