Results 191 to 200 of about 952,817 (347)

Operations for remedying deformities of the lips, consequent on congenital malformation, accident, or disease [PDF]

Francis Rynd
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Genomic Analysis of Trichotillomania

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trichotillomania (TTM) is a psychiatric condition in which people feel an overwhelming urge to pull out their hair, resulting in noticeable hair loss and significant distress. Twin and family studies suggest that TTM is at least partly genetic, but no genome‐wide analyses have been completed.
Matthew W. Halvorsen, Melanie E. Garrett, Michael L. Cuccaro, Allison E. Ashley‐Koch, James J. Crowley   +4 more
wiley   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Enhancing Speech-Driven 3D Facial Animation with Audio-Visual Guidance from Lip Reading Expert [PDF]

arXiv
Speech-driven 3D facial animation has recently garnered attention due to its cost-effective usability in multimedia production. However, most current advances overlook the intelligibility of lip movements, limiting the realism of facial expressions.
arxiv  

Redirecting the Peptide Cleavage Causes Protease Inactivation

Angewandte Chemie International Edition, Accepted Article.
Cysteine and serine proteases cleave peptides through covalent catalysis by generating a transient adduct with the N‐terminal part of the substrate after releasing its C‐terminal part. We demonstrate the unique redirection of this event leading to strong enzyme inactivation.
Michael Gütschow, Christian Breuer, Jim Küppers, Anna-Christina Schulz-Fincke, Anna Heilos, Carina Lemke, Petra Spiwokowá, Janina Schmitz, Laura Cremer, Marta Frigolé-Vivas, Michael Lülsdorff, Matthias D. Mertens, Filip Wichterle, Miloš Apeltauer, Martin Horn, Erik Gilberg, Norbert Furtmann, Jürgen Bajorath, Ulrike Bartz, Bernd Engels, Michael Mareš   +20 more
wiley   +1 more source

Synapsids and sensitivity: Broad survey of tetrapod trigeminal canal morphology supports an evolutionary trend of increasing facial tactile specialization in the mammal lineage

The Anatomical Record, EarlyView.
Abstract The trigeminus nerve (cranial nerve V) is a large and significant conduit of sensory information from the face to the brain, with its three branches extending over the head to innervate a wide variety of integumentary sensory receptors, primarily tactile.
Juri A. Miyamae, Julien Benoit, Irina Ruf, Zoleka Sibiya, Bhart‐Anjan S. Bhullar   +4 more
wiley   +1 more source

Exposed weapons: A revised reconstruction of the facial anatomy and life appearance of the saber‐toothed cat Megantereon (Felidae, Machairodontinae)

The Anatomical Record, EarlyView.
Abstract Megantereon was a widespread saber‐toothed felid from the Pliocene and Pleistocene of the Old World and North America, but its rarity in the fossil record makes it complicated to restore its life appearance. Lack of complete specimens makes it necessary to combine information from fossils of different individuals to reconstruct their facial ...
Mauricio Antón, Gema Siliceo, Juan Francisco Pastor, Qigao Jiangzuo, Manuel J. Salesa   +4 more
wiley   +1 more source