Zobrazeno 1 - 10
of 23
pro vyhledávání: '"autossômica recessiva"'
Autor:
Danilo G.A. Andrade, Felipe M. Dalanezi, Anelize S. Trecenti, Paulo Henrique J. Cunha, Alexandre S. Borges, José P. Oliveira-Filho
Publikováno v:
Pesquisa Veterinária Brasileira, Vol 36, Iss 2, Pp 73-76 (2016)
Abstract: Dermatosparaxis is an autosomal recessive disorder of connective tissue; the disorder is clinically characterized by skin fragility and hyperextensibility. Dermatosparaxis in White Dorper sheep is caused by a single nucleotide polymorphism
Externí odkaz:
https://doaj.org/article/d96b733e114342719a902c18451cfba9
Autor:
José Luiz Pedroso, Pedro Braga-Neto, Irapuá Ferreira Ricarte, Marcus Vinicius Cristino Albuquerque, Orlando Graziani Povoas Barsottini
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 71, Iss 6, Pp 345-348 (2013)
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased u
Externí odkaz:
https://doaj.org/article/6238bd06311d4e51a9c4c6753c6c4ad7
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 69, Iss 2b, Pp 288-291 (2011)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Seve
Externí odkaz:
https://doaj.org/article/a4537fcf1c1f479bb144cff60baad340
Autor:
José Augusto Malheiros, Sarah Teixeira Camargos, José Teotonio de Oliveira, Francisco E.C. Cardoso
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 65, Iss 1, Pp 32-35 (2007)
We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness range
Externí odkaz:
https://doaj.org/article/ee30e1c6acfe4f9a8c879ea7a28e6eff
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 61, Iss 3A, Pp 654-658 (2003)
Dois casos de neuropatia sensitiva e autonômica hereditária do tipo 2 são descritos. Este tipo de neuropatia faz parte de um grupo constituído por cinco entidades diferentes. A sistematização destas neuropatias depende de múltiplos critérios
Externí odkaz:
https://doaj.org/article/b6ca9276dc5149acaf2b29a1011eb5cb
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 57, Iss 2A, Pp 190-194 (1999)
We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin
Externí odkaz:
https://doaj.org/article/038f789dcf114a468e5d814c732dc2da
Autor:
GUARDIOLA ANA, ÁLVARES-DA-SILVA CLÉBER RIBEIRO, GRISOLIA JOSÉ RENATO GUIMARÃES, SILBERMANN ROGÉRIO
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 57, Iss 1, Pp 106-110 (1999)
Apresenta-se um caso de síndrome de Cockayne, definem-se os critérios diagnósticos e identificam-se as complicações desta síndrome. Os critérios para diagnóstico deste quadro são: crescimento pobre, observado desde a vida intra-uterina, anor
Externí odkaz:
https://doaj.org/article/1ac9b7be217b418f920a6f51ecc34fa4
Autor:
TRANCOZO, M.
Publikováno v:
Repositório Institucional da UFESUniversidade Federal do Espírito SantoUFES.
Made available in DSpace on 2018-08-01T20:28:08Z (GMT). No. of bitstreams: 1 tese_9932_Dissertação_Maira Trancozo.pdf: 750603 bytes, checksum: b325e8b4e134bd6ec4eb5bc70315d8c5 (MD5) Previous issue date: 2016-03-02
A Osteogênese Imperfeita (OI
A Osteogênese Imperfeita (OI
Externí odkaz:
http://repositorio.ufes.br/handle/10/7096
Autor:
TRANCOZO, M.
Publikováno v:
Repositório Institucional da Universidade Federal do Espírito Santo (riUfes)
Universidade Federal do Espírito Santo (UFES)
instacron:UFES
Universidade Federal do Espírito Santo (UFES)
instacron:UFES
Made available in DSpace on 2018-08-01T20:28:08Z (GMT). No. of bitstreams: 1 tese_9932_Dissertação_Maira Trancozo.pdf: 750603 bytes, checksum: b325e8b4e134bd6ec4eb5bc70315d8c5 (MD5) Previous issue date: 2016-03-02 A Osteogênese Imperfeita (OI) ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::87faf7d472678402cdd82a2d3dbdd2e2
http://repositorio.ufes.br/handle/10/7096
http://repositorio.ufes.br/handle/10/7096
Autor:
Anelize S. Trecenti, Felipe Morales Dalanezi, José P. Oliveira-Filho, Danilo G.A. Andrade, Paulo Henrique Jorge da Cunha, Alexandre Secorun Borges
Publikováno v:
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Pesquisa Veterinária Brasileira v.36 n.2 2016
Pesquisa Veterinária Brasileira
Colégio Brasileiro de Patologia Animal (CBPA)
instacron:EMBRAPA
Pesquisa Veterinária Brasileira, Volume: 36, Issue: 2, Pages: 73-76, Published: FEB 2016
Pesquisa Veterinária Brasileira, Vol 36, Iss 2, Pp 73-76 (2016)
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Pesquisa Veterinária Brasileira v.36 n.2 2016
Pesquisa Veterinária Brasileira
Colégio Brasileiro de Patologia Animal (CBPA)
instacron:EMBRAPA
Pesquisa Veterinária Brasileira, Volume: 36, Issue: 2, Pages: 73-76, Published: FEB 2016
Pesquisa Veterinária Brasileira, Vol 36, Iss 2, Pp 73-76 (2016)
Dermatosparaxis is an autosomal recessive disorder of connective tissue; the disorder is clinically characterized by skin fragility and hyperextensibility. Dermatosparaxis in White Dorper sheep is caused by a single nucleotide polymorphism (SNP) (c.4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d59a919f520ccff36ce1e0ba18ad25e7