Zobrazeno 1 - 10
of 32
pro vyhledávání: '"De Sanctis-Cacchione Syndrome"'
Autor:
Robert Fekete
Publikováno v:
Case Reports in Neurology, Vol 6, Iss 1, Pp 83-87 (2014)
Introduction: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, a
Externí odkaz:
https://doaj.org/article/619ceb0e45e246da80d911d044b8a1f7
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1976 Apr 01. 73(4), 1169-1173.
Externí odkaz:
https://www.jstor.org/stable/65857
Autor:
Mohsen Naraghi, Ziba Rahbar
Publikováno v:
International Journal of Women's Dermatology, Vol 1, Iss 3, Pp 136-139 (2015)
International Journal of Women's Dermatology
International Journal of Women's Dermatology
De Sanctis–Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum (XP). These patients with XP are of short stature, have mental disabilities, and develop progressive neurologic degeneration because of a severe in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96583d6dac85b70986c885a085192a04
https://doi.org/10.1016/j.ijwd.2015.05.003
https://doi.org/10.1016/j.ijwd.2015.05.003
Publikováno v:
Case Reports in Medicine
Case Reports in Medicine, Vol 2017 (2017)
Case Reports in Medicine, Vol 2017 (2017)
Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiody
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16faf33700c4daba14fcaf9b60f240d
http://europepmc.org/articles/PMC5309409
http://europepmc.org/articles/PMC5309409
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 88, Iss 6, Pp 979-981 (2013)
Anais Brasileiros de Dermatologia
Anais Brasileiros de Dermatologia
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af03dc1a7e35b8c452b216df8f68be57
http://www.scielo.br/pdf/abd/v88n6/0365-0596-abd-88-06-0979.pdf
http://www.scielo.br/pdf/abd/v88n6/0365-0596-abd-88-06-0979.pdf
Autor:
E.V. Badoe
Publikováno v:
eNeurologicalSci, Vol 3, Iss C, Pp 33-34 (2016)
eNeurologicalSci
eNeurologicalSci
Introduction Marriage between close biological kin is not regarded as advantageous in the western world but in other parts of the world, consanguineous unions persist. Consanguineous marriage increases the birth prevalence of individuals with recessi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e9c47341664f9a4677611ed238ed28f
http://www.sciencedirect.com/science/article/pii/S2405650216000058
http://www.sciencedirect.com/science/article/pii/S2405650216000058
Publikováno v:
Actas Dermo-Sifiliográficas. 96:586-588
We present a male patient with photosensitivity since the earliest months of his life, and pigmented macules in exposed areas, some showing clinical atypia, which increased in number over time. Molecular biology studies detected an alteration in DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::012dff98e1479ea2e7b518080f60b840
https://doi.org/10.1016/s0001-7310(05)73140-9
https://doi.org/10.1016/s0001-7310(05)73140-9
Autor:
Riyaz Najeeba, Riyaz A
Publikováno v:
Indian Journal of Dermatology, Venereology and Leprology, Vol 65, Iss 3, Pp 145-146 (1999)
A case of de Sanctis Cacchine syndrome in a female infant is presented.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2c0079f262fb9faa935f85503cc0af25
https://pubmed.ncbi.nlm.nih.gov/20921639
https://pubmed.ncbi.nlm.nih.gov/20921639
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Autor:
Hiroshi Tsukagoshi, Takashi Kanda, Masaya Oda, Ryouichi Hanakago, Kimiko Tamagawa, Mihoko Yonezawa, Fumiko Isa
Publikováno v:
Brain : a journal of neurology. 113
The pathology of the peripheral nervous system (PNS) in 2 autopsied cases of group A xeroderma pigmentosum (De Sanctis Cacchione syndrome) are presented. Motor nerves including those of the oculomotor systems were severely affected, but involvement o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68eb5fd621e72e4bfa84c8aaf61eb561
https://pubmed.ncbi.nlm.nih.gov/2168777
https://pubmed.ncbi.nlm.nih.gov/2168777