Results 71 to 80 of about 130,744 (316)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Craniofacial Biology and Craniofacial Surgery [PDF]

Journal of Craniofacial Surgery, 2010
Bernard G. Sarnat, James P. Bradley
openaire   +2 more sources

Forensic Analysis of Sexual Dimorphism from Facial Photographs

Journal of Forensic Science and Medicine
Background: Techniques for identifying facial features and proving the individuality of a person’s facial features are used in forensic anthropology. Aims and Objectives: A common method in this area is cranial anthropometry, which has uses in facial ...
Prachi Panwar, Tina Sharma, Archana Gautam, Mahipal Singh Sankhla   +3 more
doaj   +1 more source

Obesity and Craniofacial Morphology [PDF]

, 2007
Obesity is defined as a condition describing excess amount of body fat. The paper aims to present current information regarding the relation between obesity and craniofacial ...
Burcu Baloş Tuncer
core   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Editorial: Cranial Placodes and Neural Crest Interactions in Craniofacial Development

Frontiers in Physiology, 2021
Jean-Pierre Saint-Jeannet, Patrick Blader, Lisa A. Taneyhill   +2 more
doaj   +1 more source

Surgical Repair of a Median Cleft of the Upper Lip via a Pfeifer Incision: A Case Report

Frontiers in Dentistry, 2016
Median cleft is the midline cleft of the lip. It develops due to incomplete or failed fusion of the median nasal prominence. It can present with minimal deformities such as involvement of the vermilion border, or complex clefting of the midline ...
Rajeev Pandey, Rajat Gupta, Nitin Bhagat, Aviral Verma   +3 more
doaj  

Epidemiological pattern of cleft lip and palate under Rashtriya Bal Swasthya Karyakram project in the state of Bihar: A cross-sectional hospital-based study

Journal of Family Medicine and Primary Care
Purpose: There is a paucity of literature on the incidence and distribution of cleft lip and palate cases in the population of Bihar leading to an unmeasured gap in the status of cleft patients in this part of the country.
Shria Datta, Veena Kumari Singh
doaj   +1 more source

Application of preoperative registration and automatic tracking technique for image-guided maxillofacial surgery

Computer Assisted Surgery, 2016
Objective: To investigate the practicality of preoperative registration technique in navigational surgery of facial skeleton.Methods: Five cases were underwent navigational surgery with the preoperative registration technique.
Wenbin Zhang, Xudong Wang, Jianfei Zhang, Guofang Shen   +3 more
doaj   +1 more source