Results 101 to 110 of about 1,255 (245)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Successful Trans-Radial Coronary Intervention through “Arteria Lusoria”

Journal of Cardiology and Therapeutics, 2018
Kalyan Munde, Shakil Shaikh, Vikrant Deshmukh, Mukund Phutane, Rahul Singla, Zahidullah khan   +5 more
openaire   +1 more source

Morphological and morphometric aspects of the equine aortic valve: New insights for comparative studies in mammals

The Anatomical Record, EarlyView.
Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira, Victoria Brondani de Oliveira, Carlos Eduardo Seyfert, Luciano de Morais‐Pinto   +3 more
wiley   +1 more source

The skeleton of the green Iguana iguana (Squamata: Iguanidae) and its intraspecific morphological variation

The Anatomical Record, EarlyView.
Abstract The green iguana (Iguana iguana) is an iguanine lizard with herbivorous and arboreal habits, whose distribution spans through South America, Central America to the south of North America. Although the genus Iguana is well‐known, the species still lacks a comprehensive and up‐to‐date anatomical study, particularly addressing the axial skeleton,
Vieno Rosa, Marcos Vinícius Coelho, Camila Cupello   +2 more
wiley   +1 more source

Adventitial cystic disease of the radial artery. [PDF]

J Vasc Bras, 2018
Guimarães AC, Moreira RH, Boim de Araujo WJ.   +2 more
europepmc   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Understanding the spacing of placodes in the eye: A comparative study across age and species

The Anatomical Record, EarlyView.
Abstract The conjunctival placodes of the avian eye form in an intriguing and conserved sequence in a circular annulus around the cornea. These 13–16 placodes develop into papillae that are essential for inducing underlying intramembranous flat bones, known as scleral ossicles, which form an important part of the ocular skeleton.
Florence Joseph, Tamara A. Franz‐Odendaal   +1 more
wiley   +1 more source

Carcinomas de células Merkel

Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 1996
Presentamos el caso de un paciente con una lesión tumoral localizada en la mano izquierda. La histología informó un carcinoma de células de Merkel que fue confirmada por inmunohistoquímica.
Mónica María Zapata Vidal, Guillermo Jimenez C., Felipe Mesa B., Walter León H.   +3 more
doaj  

Hepatic morphology and serum biochemical profile according to dry and rainy seasons in Pygocentrus nattereri (Characiformes: Serrasalmidae)

The Anatomical Record, EarlyView.
Abstract This study investigated the physiological and morphological adaptations of the liver of the carnivorous fish Pygocentrus nattereri (piranha) in response to seasonal variations (dry and rainy seasons) in the Brazilian Pantanal. The objective was to describe how the liver, a central organ in metabolic regulation, responds to environmental ...
Maria Eduarda Corona Garcia, Sandriely F. Marcondes, Mayara S. Siqueira, Taynara R. F. Leão, Robson A. Rodrigues, Karine N. N. Farias, André L. N. Silva, Karin Virgínia Kuibida, Lilian Franco‐Belussi, Carlos E. Fernandes   +9 more
wiley   +1 more source