Results 1 to 10 of about 428 (65)

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives Distrofia muscular congênita. Parte II: revisão da patogênese e perspectivas terapêuticas [PDF]

Arquivos de Neuro-Psiquiatria, 2009
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and ...
Umbertina Conti Reed
doaj   +5 more sources

Anestesia em criança com síndrome de Walker-Warburg

Revista Brasileira de Anestesiologia, 2014
Justificativa e objetivos: A síndrome de Walker-Warburg é uma distrofia muscular autossômica recessiva congênita rara, manifestada pelo sistema nervoso central com malformações oculares e possível envolvimento de vários sistemas.
Emine Arzu Kose, Bulent Bakar, Gokay Ates, Didem Aliefendioglu, Alpaslan Apan   +4 more
doaj   +1 more source

Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases Complexo distrofina-glicoproteínas associadas na distrofia muscular congênita: análise imuno-histoquímica em 59 casos

Arquivos de Neuro-Psiquiatria, 2005
The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin ...
Lucio Gobbo Ferreira, Suely Kazue Marie, Enna Cristina Liu, Maria Bernadete Dutra Resende, Mary Souza Carvalho, Milberto Scaff, Umbertina Conti Reed   +6 more
doaj   +1 more source

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects Distrofia muscular congênita. Parte I: revisão dos aspectos fenotípicos e diagnósticos

Arquivos de Neuro-Psiquiatria, 2009
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and ...
Umbertina Conti Reed
doaj   +1 more source

LISENCEFALIA Y ANOMALÍAS ASOCIADAS

Medicentro, 2014
La lisencefalia (cerebro liso) es una malformación del desarrollo cortical, caracterizada por una deficiente giración, con aspecto macroscópico liso del cerebro.
Elio Llerena Rodríguez, Leydy Ángela García Rivero   +1 more
doaj  

23rd Congress of the European Hematology Association Stockholm, Sweden, June 14‐17, 2018

, 2018
HemaSphere, Volume 2, Issue S1, Page 1-1113, June 2018.
wiley   +1 more source

Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report. [PDF]

Arq Bras Oftalmol, 2022
Silva MWBE, Martins A, Medeiros AL, Vasconcelos A, Ventura CV.   +4 more
europepmc   +1 more source

Abstracts from the 54^th European Society of Human Genetics (ESHG) Conference: e-Posters. [PDF]

Eur J Hum Genet, 2022
europepmc   +1 more source

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. [PDF]

J Med Genet, 2002
Slavotinek AM, Tifft CJ.
europepmc   +1 more source

Abstracts : 32 ^nd Congress of the ESP and XXXIII International Congress of the IAP. [PDF]

Virchows Arch, 2020
europepmc   +1 more source