Results 21 to 30 of about 35,689 (156)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Helmeted hornbill cranial kinesis: Balancing mobility and stability in a high‐impact joint

The Anatomical Record, EarlyView.
Abstract Prokinesis—in which a craniofacial joint allows the rostrum to move relative to the braincase—is thought to confer diverse advantages in birds, mostly for feeding. A craniofacial joint would, however, be a weak link if cranial stability is important. Paradoxically, we have identified a craniofacial joint in helmeted hornbills (Rhinoplax vigil),
Mike Schindler, Benjamin Flaum, Armita Razieh Manafzadeh, Viktoriia Kamska, Kanmani Chandra Rajan, Maria Jose Robles Malagamba, Ruien Hu, Daniel Baum, Mason N. Dean   +8 more
wiley   +1 more source

Topological and variational modularity: A case study using the pectoral girdle across the Chrosomus eos‐neogaeus hybridization complex

The Anatomical Record, EarlyView.
Abstract Modularity and integration are key developmental properties and have remained central in evo‐devo research because of how they relate to evolvability. While modularity and integration have commonly been assessed with landmark‐based geometric morphometrics (GMM), other methods such as anatomical network analysis (AnNA) are increasingly being ...
Kevin K. Duclos, Thomas Grünbaum, Bernard Angers, Richard Cloutier, Heather A. Jamniczky   +4 more
wiley   +1 more source

Functional models from limited data: A parametric and multimodal approach to anatomy and 3D kinematics of feeding in basking sharks (Cetorhinus maximus)

The Anatomical Record, EarlyView.
Abstract Basking sharks, Cetorhinus maximus (Gunnerus, Brugden [Squalus maximus], Det Kongelige Norske Videnskabers Selskabs Skrifter, 1765, vol. 3, pp. 33–49), feed by gaping their mouths and gill slits, greatly reorienting their cranial skeletons to filter food from water.
Tairan Li, Mike Schindler, Martha Paskin, Venkata A. Surapaneni, Elliott Scott, Sabine Hauert, Nicholas Payne, David E. Cade, Jeremy A. Goldbogen, Frederik H. Mollen, Daniel Baum, Sean Hanna, Mason N. Dean   +12 more
wiley   +1 more source

An overview of the postcranial osteology of caecilians (Gymnophiona, Lissamphibia)

The Anatomical Record, EarlyView.
Abstract Caecilians comprise a relatively small (~220 species) group (Gymnophiona) of snake‐like or worm‐like, mostly tropical amphibians. Most adult caecilians are fossorial, although some species may live in aquatic or semi‐aquatic environments, either as larvae or adults.
Rodolfo Otávio Santos, Mark Wilkinson, Hussam Zaher   +2 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Inside a duck‐billed dinosaur: Vertebral bone microstructure of Huallasaurus (Hadrosauridae), Upper Cretaceous of Patagonia

The Anatomical Record, EarlyView.
Abstract Dinosaurs evolved a unique respiratory system with air sacs that contributed to their evolutionary success. Postcranial skeletal pneumaticity (PSP) has been used to infer the presence of air sac systems in some fossil archosaurs. While unambiguous evidence of PSP is well documented in pterosaurs and post‐Carnian saurischians, it remains absent
Tito Aureliano, Aline M. Ghilardi, Jonatan Kaluza, Agustín G. Martinelli   +3 more
wiley   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

The Anatomical Record, EarlyView.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc, Tommaso Gerussi, Bruno Cozzi, Rebecca M. Boys, Brian Chin Wing Kot, Matthew R. Perrott, Kane Fleury, Tabris Yik To Chung, Henry Chun Lok Tsui, Emma Burns, Trudi Webster, Stuart Hunter, Emma L. Betty, Odette Howarth, Carolina Loch, Sophie White, Steve Dawson, William Rayment, Ros Cole, Derek Cox, Tom Waterhouse, Hannah Hendriks, Anton van Helden, Muriel Johnstone, Ramari Oliphant Stewart, R. Ewan Fordyce, Karen A. Stockin   +26 more
wiley   +1 more source

The tiger salamander as a promising alternative model organism to the axolotl for fracture healing and regenerative biology research

The Anatomical Record, EarlyView.
Abstract Scientists have been captivated by the ability to regenerate, focusing on uncovering the mechanisms of epimorphic regeneration and applying them to human medicine. The axolotl (Ambystoma mexicanum) has become the most intensively studied model in tetrapod regeneration research, particularly concerning limb regeneration.
Vivien Bothe, Nadia Fröbisch
wiley   +1 more source