نتایج جستجو برای: papillon

تعداد نتایج: 2555  

2017
Masaya Tsuboi Manabu Watanabe Kazumi Nibe Natsuko Yoshimi Akihisa Kato Masahiro Sakaguchi Osamu Yamato Miyuu Tanaka Mitsuru Kuwamura Kazuya Kushida Takashi Ishikura Tomoyuki Harada James Kenn Chambers Sumio Sugano Kazuyuki Uchida Hiroyuki Nakayama

Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is h...

Journal: :Canadian Medical Association Journal 2021

2013
Suhail Majid Reyaz Ahmed

Papillon Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one third of cases. The palmar plantar keratoderma typically has its onset between the ages...

2002
Christian BOITET

The Papillon lexical data base comprises a set of detailed monolingual dictionaries of « lexies » (word senses) interlinked through « axies » (interlingual links) which can also refer to external semanticsoriented systems such as UNL « universal words », Worldnet « synsets », Ontos « concepts » or NTT ALT/JE system « semantic classes ». The basic idea is that bilingual or multitarget usage dict...

Journal: :QJM: An International Journal of Medicine 2017

2013
Kaustubh Suresh Thakare M. L. Bhongade Pretti Charde Shweta Kale Priyanka Jaiswal B. K. Somnath Sunil Pendor

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been ...

Journal: :Trends journal of sciences research 2021

This research discusses language style at the movie script of Papillon. aims to classify type and functions speakers’ utterances in using The data source this was YouTube “Papillon” which aired on September, 26th 2018. study utilized theories Martin Joos' types styles Roman Jakobson's function. Data from Papillon Movie Script. Researchers have implemented qualitative designs answer question. re...

Journal: :journal of dentistry, tehran university of medical sciences 0
lotfazar m amirghofran z nicfarjam l

statement of problem: papillon lefevre syndrome (pls) is a rate autosomal recessive disorder, which is characterized by palmar- plantar hyperkeratosis and rapid periodontal destruction of primary and permanent dentitions. purpose: the aim of the present study was to evaluate the peripheral blood neutrophil function including random locomotion, chemotaxis and oxidative mechanism of killing in a ...

Journal: :journal of dentomaxillofacil radiology, pathology and surgery 0
maryam basirat oro-maxillofacial developmental diseases research center, department of oral medicine, guilan university of medical sciences, dental school, rasht, iran atessa pakfetrat dental research center, mashhad university of medical sciences, dental school, mashhad, iran adineh javadian langaroodi department of oral and maxillofacial radiology, mashhad university of medical sciences, dental school, mashhad, iran

introduction: papillon-lefèvre syndrome(pls) characterized by palmoplantar hyperkeratosis is a rare autosomal recessive genetic disorder with rapidly progressive periodontitis and premature loss of both deciduous and permanent teeth. in this study, we report the clinical and radiographic features of papillon-lefèvre syndrome in an 11- year-old girl and we also discuss the history and various th...

Journal: :BMJ case reports 1986
Mohan B Gharpuray D J Patil S N Tolat Nitin V Shah

Five cases of Papillon-Lefevre syndrome occurring in 2 families were seen to have variable clinical features. Two of these cases treated with etretinate showed a good response.

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