[HTML][HTML] Normal and disease-related biological functions of Twist1 and underlying molecular mechanisms

Q Qin, Y Xu, T He, C Qin, J Xu - Cell research, 2012 - nature.com
This article reviews the molecular structure, expression pattern, physiological function,
pathological roles and molecular mechanisms of Twist1 in development, genetic disease …

Genetic advances in craniosynostosis

W Lattanzi, M Barba, L Di Pietro… - American journal of …, 2017 - Wiley Online Library
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and
genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live …

[HTML][HTML] Craniosynostosis

D Johnson, AOM Wilkie - European Journal of Human Genetics, 2011 - nature.com
Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many
challenges in classification and treatment. At least 20% of cases are caused by specific …

[HTML][HTML] Guideline for care of patients with the diagnoses of craniosynostosis: working group on craniosynostosis

IMJ Mathijssen - Journal of Craniofacial Surgery, 2015 - journals.lww.com
This guideline for care of children with craniosynostosis was developed by a national
working group with representatives of 11 matrix societies of specialties and the national …

Syndromic craniosynostosis: from history to hydrogen bonds

ML Cunningham, ML Seto… - Orthodontics & …, 2007 - Wiley Online Library
Structured Abstract Authors–Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV
The syndromic craniosynostoses, usually involving multiple sutures, are hereditary forms of …

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations

MR Passos-Bueno, AL Sertié, FS Jehee… - Craniofacial …, 2008 - karger.com
Craniosynostosis is a very heterogeneous group of disorders, in the etiology of which
genetics play an important role. Chromosomal alterations are important causative …

Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile

T de Jong, N Bannink, HH Bredero-Boelhouwer… - Journal of plastic …, 2010 - Elsevier
OBJECTIVE: Little is known about the long-term prevalence of elevated intracranial pressure
(ICP), obstructive sleep apnoea (OSA), level of education, language and motor skills …

Inflammation fuels tumor progress and metastasis

J Liu, P Charles Lin, BP Zhou - Current pharmaceutical design, 2015 - ingentaconnect.com
Inflammation is a beneficial response that can remove pathogens, repair injured tissue and
restore homeostasis to damaged tissues and organs. However, increasing evidence …

Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement

N Bannink, E Nout, EB Wolvius, HLJ Hoeve… - International journal of …, 2010 - Elsevier
Almost 50% of patients with Apert, Crouzon or Pfeiffer syndrome develop obstructive sleep
apnea (OSA), mainly due to midface hypoplasia. Midface advancement is often the …

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

A Kutkowska-Kaźmierczak, M Gos… - Journal of applied …, 2018 - Springer
Abstract Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of
cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal …