Results 91 to 100 of about 190,606 (311)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Surface modification of PEEK implants for craniofacial reconstruction and aesthetic augmentation—fiction or reality?

Frontiers in Surgery
Facial implantology, a crucial facet of plastic and reconstructive surgery, focuses on optimizing implant materials for facial augmentation and reconstruction.
Martin Kauke-Navarro, Martin Kauke-Navarro, Leonard Knoedler, Leonard Knoedler, Samuel Knoedler, Samuel Knoedler, Can Deniz, Ali-Farid Safi, Ali-Farid Safi   +8 more
doaj   +1 more source

Validation of a fibula graft cutting guide for mandibular reconstruction: experiment with rapid prototyping mandible model

Computer Assisted Surgery, 2016
Objective: We examined whether cutting a fibula graft with a surgical guide template, prepared with computer-aided design/computer-aided manufacturing (CAD/CAM), would improve the precision and accuracy of mandibular reconstruction.
Se-Ho Lim, Yeon-Ho Kim, Moon-Key Kim, Woong Nam, Sang-Hoon Kang   +4 more
doaj   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Gene regulatory dynamics during craniofacial development in a carnivorous marsupial

eLife
Marsupials and placental mammals exhibit significant differences in reproductive and life history strategies. Marsupials are born highly underdeveloped after an extremely short period of gestation, leading to prioritized development of structures ...
Laura E Cook, Charles Y Feigin, John D Hills, Davide M Vespasiani, Andrew J Pask, Irene Gallego Romero   +5 more
doaj   +1 more source

Stickler Sendromuna Genel Bakış: Bir Derleme Çalışması

Dil, Konuşma ve Yutma Araştırmaları Dergisi, 2021
Amaç: Stickler Sendromu (STL) konjenital olarak ortaya çıkan ve çocuğun farklı gelişim alanlarını etkileyen bir bağ dokusu bozukluğudur. Bu çalışmanın amacı, STL’ye ilişkin alanyazındaki çalışmaların taranarak sendromun genel özellikleri, klinik ...
Ayşe Işıldar
doaj  

A case report of Parry Romberg Syndrome initially presenting as periodontitis [PDF]

, 2018
Parry Romberg Syndrome (PRS) is a rare disorder of progressive hemifacial atrophy, involving soft tissues, fat and occasionally bone. It can co-exist with presentations of Morphea.
Bramley, Duymaz, El-Kehdy, Fayad, Gorlin, Grippaudo, Lehman, Lewkonia, Mazzeo, Miller, Saraf, Stone, Sándor, Tollefson, Yu-Feng   +14 more
core   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Evaluation of 4 Outcomes Measures in Microtia Treatment: Exposures, Infections, Aesthetics, and Psychosocial Ramifications. [PDF]

, 2017
BackgroundIn craniofacial microsomia, microtia and canal atresia pose formidable reconstructive challenges. We review our institutional experience in treating microtia and atresia to identify variables associated with 4 outcomes measures: complications ...
Bradley, James P, Dubina, Emily, Ishiyama, Akira, Lee, Justine C, Mandelbaum, Rachel S, Martins, Deborah B, Park, Sarah H, Volpicelli, Elizabeth J   +7 more
core  

WWP2 ubiquitin ligase and its isoforms: New biological insight and promising disease targets [PDF]

, 2011
A number of recent papers on the WWP2 E3 ubiquitin ligase and two novel WWP2 isoforms have revealed important biological insight and disease-specific functions, and also impacted on our understanding of ubiquitin ligases in cell cycle regulation ...
Chantry, A
core   +1 more source