Results 101 to 110 of about 390,574 (294)

Simulation of Interactive Cutting Tool for Craniofacial Osteotomy Planning

, 2007
Engineers and scientists from many fields are using three-dimensional reconstruction for visualization and analysis of physical data. Recent advances in medical imaging and surgical techniques have made possible the correction of severe facial ...
Zulkepli Majid, Albert K. Chong, Mohammad Azam Rana, Halim Setan, Chong, Albert K., Majid, Zulkepli, Rana, Mohammad Azam, Setan, Halim   +7 more
core   +1 more source

Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report

Autopsy and Case Reports, 2012
Renal tubular dysgenesis (RTD) is a rare, lethal, autosomal recessive disorder characterized by non-differentiation of the renal proximal convoluted tubules, resulting in oligohydramnios.
Ariel Barreto Nogueira, Regina Schultz, Adolfo Wenjaw Liao, Rossana Pulcineli Vieira Fancisco, Marcelo Zugaib   +4 more
doaj  

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Differential sensitivity to SHH signaling and neural crest‐mediated Gas1 expression regulate jaw size during development and evolution

Developmental Dynamics, EarlyView.
Abstract Background Developmental control of jaw size is crucial to prevent birth defects and facilitate evolutionary adaptation. We have shown that jaw size is established by neural crest mesenchyme (NCM), which are progenitor cells that migrate into the mandibular primordia and produce the jaws.
Zuzana Vavrušová, Daniel B. Chu, An Nguyen, Yeniko Ta, Jennifer L. Fish, Richard A. Schneider   +5 more
wiley   +1 more source

PRDM16 is necessary for sensory neuronal development and differentiation in the trigeminal ganglion

Developmental Dynamics, EarlyView.
Abstract Background Cranial neural crest cells (cNCC) generate craniofacial cartilage, bone, and peripheral neurons and glia, and birth defects arise when the cartilage/neuronal/glial progenitors fail to differentiate. PRDM16 is a transcriptional regulator containing both zinc‐finger and SET domains, implicated in craniofacial development and orofacial
Fahmida Raha, Qiman Gao, Lomeli C. Shull, Kristin B. Artinger   +3 more
wiley   +1 more source

Mouse resources for craniofacial research.

, 2011
The mouse, as a genetically defined and easily manipulated model organism, has played a critical role in unraveling the mechanisms of craniofacial development and dysmorphology. While numerous gene knockout strains that display craniofacial abnormalities
Murray, Stephen A, Stephen A. Murray
core   +1 more source

Diagnosis of Treacher-Collins Syndrome: The role of the multidisciplinary team in patient management and family genetic counseling

Rwanda Medical Journal, 2022
INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions.
B. Tuyishimire, H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutarama, C. Nsanzabaganwa, L. Mutesa   +7 more
doaj  

Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development

Developmental Dynamics, EarlyView.
Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng, Santiago Lima, Larisa Litovchick, Amanda J. G. Dickinson   +3 more
wiley   +1 more source

Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report

Journal of Nepal Medical Association
Axenfeld Rieger Syndrome is autosomal dominant genetic condition, which can present with various ocular and non-ocular findings. Anterior segment dysgenesis is the most common ocular finding leading to glaucoma.
Madhu Thapa, Pragati Gautam, Sanjeeta Sitaula   +2 more
doaj   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source