Results 111 to 120 of about 53,280 (283)

A Case of Complex Facial Clefts Treated with Staged-tissue Expansion

Plastic and Reconstructive Surgery, Global Open, 2014
Summary: Craniofacial clefts involve all soft tissue and skeletal elements throughout the cleft. Usefulness of tissue expansion in craniofacial clefts is reported.
Koichi Ueda, MD, PhD, Yuka Shigemura, MD, Takashi Nuri, MD, PhD, Hiroyuki Iwanaga, MD, Takaya Seno, MD   +4 more
doaj   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos

Developmental Dynamics, EarlyView.
Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez, Niusha Banoukh, Fiona Mensching, Robert V. Skibbens, M. Kathryn Iovine   +4 more
wiley   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +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  

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

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

FREQUENCY OF SINO-NASAL ABNORMALITIES AND ASSOCIATED SOCIODEMOGRAPHIC FACTORS AMONG THE PATIENTS PRESENTING WITH CRANIOFACIAL PAINS AT ENT DEPARTMENT

Pakistan Armed Forces Medical Journal, 2019
Objective: To determine the frequency of sino-nasal abnormalities and associated socio-demographic factors among the patients presenting with craniofacial painat ENT department of a tertiary care hospital of Pakistan Study Design: Cross-sectional ...
Humza Mumtaz, Usama Bin Zubair
doaj  

Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish

Frontiers in Cell and Developmental Biology
Humans and other jawed vertebrates rely heavily on their craniofacial skeleton for eating, breathing, and communicating. As such, it is vital that the elements of the craniofacial skeleton develop properly during embryogenesis to ensure a high quality of
Sabrina C. Fox, Andrew J. Waskiewicz
doaj   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source