Results 41 to 50 of about 790 (167)

Baja talla por déficit selectivo e idiopático de hormona de crecimiento asociado al Síndrome de Crouzon

open access: yesCiencia y Salud, 2017
El Síndrome de Crouzon constituye la craneosinostosis compleja más frecuente y conocida. Se transmite de forma autosómica dominante, con expresión variable, no tiene predilección racial ni de sexo y es infrecuente su asociación con el déficit selectivo ...
Francisco Carvajal Martínez   +3 more
doaj   +1 more source

Gene array of primary human osteoblasts exposed to enamel matrix derivative in combination with a natural bone mineral [PDF]

open access: yes, 2018
Objectives: The application of an enamel matrix derivative (EMD) for regenerative periodontal surgery has been shown to promote formation of new cementum, periodontal ligament, and alveolar bone.
Bosshardt, Dieter   +4 more
core  

Apert Syndrome Presenting with Omphalocele [PDF]

open access: yesJournal of Krishna Institute of Medical Sciences University, 2019
Apert syndrome is a congenital acrocephalosyndactyly syndrome. It is mainly presented by craniosynostosis, syndactyly of the hands and feet and dysmorphic facial features.
Keerti Swarnkar   +4 more
doaj  

Генетическая регуляция формирования лица и конечностей [PDF]

open access: yes, 2006
ГЕНОМ ...
Гатальский, В. В.   +2 more
core  

Linkage analysis in dominant acrocephalosyndactyly. [PDF]

open access: yesJournal of Medical Genetics, 1978
Linkage analysis was performed on a previously reported family in which multiple dominantly inherited acrocephalosyndactyly syndromes were present. An underlying axiom of linkaged analysis is that the trait analysed be monogenic. This prerequisite was presumptively established in the single kindred analysed because acrocephalosyndactyly was observed in
J R, Eastman, V, Escobar, D, Bixler
openaire   +2 more sources

Computed tomography assessment of Apert syndrome Avaliação da síndrome de Apert por meio da tomografia computadorizada

open access: yesBrazilian Oral Research, 2004
Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque   +1 more
doaj   +1 more source

Abordagem clínica e radiográfica de um caso de Síndrome de Apert: relato de uma rara anomalia craniofacial [PDF]

open access: yes, 2023
Introdução: A síndrome de Apert (SA) é uma desordem genética rara, no entanto com manifestações dismórficas craniofaciais e de membros severos que afetam a qualidade de vida e desenvolvimento intelectual dos pacientes acometidos.
Alberici, Arthur Sebba Rady   +11 more
core   +1 more source

Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease) [PDF]

open access: yes, 1977
The term amyotrophic lateral sclerosis was first introduced by Charcot to describe cases with mixed upper and lower motor neuron signs without sensory impairment. Later the syndromes of progressive bulbar palsy (PBP) and progressive muscular atrophy (PMA)
Myer, Edwin C.   +3 more
core   +1 more source

Expresividad variable en el síndrome de acrocefalosindactilia tipo I. A propósito de dos pacientes [PDF]

open access: yes, 2015
Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia and severe bone skin and symmetrical syndactyly of hands and feet.
González Hernández, Kenia   +2 more
core   +2 more sources

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