Results 11 to 20 of about 10,259 (220)

Displasia folicular de la capa negra canina [PDF]

Revista Colombiana de Ciencia Animal Recia, 2018
La displasia folicular de la capa negra, es una dermatopatía restringida a las zonas de pelo negro de perros con dos o más capas de colores. Estudios mencionan haber un problema primario en el folículo piloso, donde está involucrada una herencia ...
Yasmir José Arroyo M, Luis Carlos Hincapié G   +1 more
doaj   +5 more sources

Displasia de la cadera [PDF]

Acta Pediátrica de México, 2015
Antiguamente conocida como luxación congénita de la cadera, actualmente se prefiere el término de displasia del desarrollo de la cadera por su carácter evolutivo y de aparición posnatal.
Agustín Isunza-Ramírez, Oscar Daniel Isunza-Alonso   +1 more
doaj   +2 more sources

Displasia tanatofórica [PDF]

Revista de Ciencias Médicas de Pinar del Río, 2017
Introducción: las displasias tanatofóricas se caracterizan por tórax estrecho con plastipondilia y extremidades cortas. Caso clínico: se presenta un caso de displasia esquelética letal en una de las variedades conocidas como displasia tonatofórica tipo I.
Julio Angel Quintana González, Reinerio Rubio Rojas   +1 more
openaire   +2 more sources

Anatomical insights beyond the centre edge angle in borderline hip dysplasia: A computerised tomography study. [PDF]

J Exp Orthop
Abstract Purpose Borderline hip dysplasia (BhD) may be associated with insufficient acetabular coverage. Thus, we investigated potential differences in acetabular anatomical measurements derived from computerised tomography (CT) that characterise BhD compared with healthy controls.
Lara J, Neira A, Garín A, Del Río J, Tomic A, García N, Roby M, De la Fuente C.   +7 more
europepmc   +2 more sources

Bone abnormalities in the middle Anisian marine sauropsids from Winterswijk

Journal of Morphology, Volume 284, Issue 2, February 2023., 2023
The 3D visualization of Middle Triassic marine sauropsid dorsal rib with bulbous thickening as results of alleged osteofibrous displasia. Abstract While the occurrence of skeletal pathologies in Middle Triassic marine reptiles has been poorly documented until now, massive accumulations of bone remains from the Germanic Basin provide the opportunities ...
Dawid Surmik, Tomasz Szczygielski, Justyna Słowiak‐Morkovina, Martin Sander, Bruce Rothschild, Piotr Duda, Nicole Klein   +6 more
wiley   +1 more source

ANKRD11 variants: KBG syndrome and beyond

Clinical Genetics, Volume 100, Issue 2, Page 187-200, August 2021., 2021
​ Abstract Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developmental disorders caused by variants affecting different chromatin ...
Ilaria Parenti, Mark B. Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero‐Montoya, Axel Bohring, Nuria C. Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A. Micheil Innes, Chiara Leoni, Yun R. Li, Sally Ann Lynch, Milena Mariani, Livija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma Ortiz‐Gonzalez, Eva Christina Prott, Heiko Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H. Zackai, Giuseppe Zampino, Birgit Zirn, Hakon Hakonarson, Matthew A. Deardorff, Gabriele Gillessen‐Kaesbach, Frank J. Kaiser   +39 more
wiley   +1 more source

Pierpont syndrome‐Report of a new patient

Clinical Case Reports, Volume 9, Issue 4, Page 2113-2116, April 2021., 2021
We report on a 6‐year‐old girl with Pierpont Syndrome who was diagnosed using the whole‐exome sequencing technique. In addition to commonly recognized traits, our patient had scoliosis, a feature reported only in one other occasion. Abstract We report on a 6‐year‐old girl with Pierpont Syndrome who was diagnosed using the whole‐exome sequencing ...
Vlora Ismaili–Jaha, Shqipe Spahiu‐Konusha, Art Jaha   +2 more
wiley   +1 more source

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

Acta Ophthalmologica, Volume 98, Issue 8, Page e1034-e1048, December 2020., 2020
Abstract Purpose In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management.
Marta Diñeiro, Raquel Capín, Guadalupe Á. Cifuentes, Beatriz Fernández‐Vega, Eva Villota, Andrea Otero, Adrián Santiago, Patricia C. Pruneda, David Castillo, Mónica Viejo‐Díaz, Inés Hernando, Noelia S. Durán, Rebeca Álvarez, Claudia G. Lago, Gonzalo R. Ordóñez, Álvaro Fernández‐Vega, Rubén Cabanillas, Juan Cadiñanos   +17 more
wiley   +1 more source

Protein Phosphorylation in Serine Residues Correlates with Progression from Precancerous Lesions to Cervical Cancer in Mexican Patients

BioMed Research International, Volume 2020, Issue 1, 2020., 2020
Protein phosphorylation is a posttranslational modification that is essential for normal cellular processes; however, abnormal phosphorylation is one of the prime causes for alteration of many structural, functional, and regulatory proteins in disease conditions. In cancer, changes in the states of protein phosphorylation in tyrosine residues have been
Juan Ramón Padilla-Mendoza, Arturo Contis-Montes de Oca, Mario Alberto Rodríguez, Mavil López-Casamichana, Jeni Bolaños, Laura Itzel Quintas-Granados, Octavio Daniel Reyes-Hernández, Fabiola Fragozo-Sandoval, Aldo Arturo Reséndiz-Albor, Claudia Vanessa Arellano-Gutiérrez, Israel López-Reyes, Yujiang Fang   +11 more
wiley   +1 more source

Lesões pré-malignas do esôfago e câncer precoce

Clinical and Biomedical Research, 2022
O câncer de esôfago é uma doença epidemiologicamente importante em nosso meio. O consumo de álcool, o tabagismo e o refluxo gastroesofágico estão entre os fatores de risco bem estabelecidos para o desenvolvimento de câncer. As condições prédeterminantes
Luis Fernando Moreira, Marcelo F. Tiburi   +1 more
doaj