Unique Sex-Based Approach Identifies Transcriptomic Biomarkers Associated with Non-Syndromic Craniosynostosis [PDF]
, 2012 Background The premature fusion of one cranial suture, also referred to as non-syndromic craniosynostosis, most commonly involves premature fusion of the sagittal, coronal, or metopic sutures, in that order.
Bammler, Theo K. +4 more
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Arthrogryposis : an update on clinical aspects, etiology, and treatment strategies [PDF]
, 2016 Arthrogryposes - multiple joint contractures - are a clinically and etiologically heterogeneous class of diseases, where accurate diagnosis, recognition of the underlying pathology and classification are of key importance for the prognosis as well as ...
Feluś, Jarosław +1 more
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Genetic testing for Marfan syndrome [PDF]
, 2018 Marfan syndrome (MFS) is an inherited connective tissue disorder caused by heterozygous mutations in the FBN 1 gene. Clinical manifestations of MFS include aortic dilatation and dissection, as well as cardiac valvular, ocular, skeletal and neurological ...
Beccari Tommaso +6 more
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Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child [PDF]
, 2014 Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities.
Bhushan Shah +6 more
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Marfan syndrome diagnosis and management [PDF]
, 2017 Marfan syndrome is the most common inherited multisystem disorder of connective tissue. This autosomal dominant condition has an incidence of 2-3 per 10,000 individuals.
Ammash, Naser M., Connolly, Heidi M.
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Congenital contractural arachnodactyly: a syndrome simulating Marfan's syndrome.
Canadian Medical Association journal, 1972 R B, Lowry, V C, Guichon
openaire +2 more sources
Descripción osteológica y citogenética de un caso de artrogriposis en un bovino Holstein Friesian [PDF]
, 2022 El presente trabajo expone el caso de una ternera de raza Holstein Friesian de 6 meses de edad que presentó un defecto congénito. El mismo se caracterizó por contractura y deformación articular bilateral simétrica a nivel del carpo, por lo que se ...
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Lihakarjan perinnölliset sairaudet ja vasikoiden poistot Suomessa : kirjallisuuskatsaus liharotuisten nautojen perinnöllisistä sairauksista ja tutkimusosio suomalaisten lihakarjavasikoiden poistotilastoista [PDF]
, 2020 Tässä työssä tutkittiin pihvikarjan kasvuaikaista kuolleisuutta Suomessa sekä pihvikarjan perinnöllisiä sairauksia. Työstä on hyötyä sekä eläinlääkäreille että pihvikarjatilallisille.
Liikanen, Antti
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Genetic regulation of linear growth [PDF]
, 2019 Linear growth occurs at the growth plate. Therefore, genetic defects that interfere with the normal function of the growth plate can cause linear growth disorders. Many genetic causes of growth disorders have already been identified in humans.
Philip Whalen, Shanna Yue, Youn Hee Jee
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Mechanisms of Copper-Dependent Notochord Formation in Zebrafish [PDF]
, 2010 The interplay of genes and nutrition during early development profoundly impacts fetal outcome. Copper is an essential nutrient required for the redox activity of many enzymes, and recent work in our laboratory has elucidated the phenotype of copper ...
Gansner, John
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