Dental agenesis: genetic and clinical perspectives

PJ De Coster, LA Marks, LC Martens… - Journal of Oral …, 2009 - Wiley Online Library
Dental agenesis is the most common developmental anomaly in humans and is frequently
associated with several other oral abnormalities. Whereas the incidence of missing teeth …

The new bone biology: pathologic, molecular, and clinical correlates

MM Cohen Jr - American journal of medical genetics part A, 2006 - Wiley Online Library
Bone and cartilage and their disorders are addressed under the following headings:
functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; …

Periostin regulates collagen fibrillogenesis and the biomechanical properties of connective tissues

RA Norris, B Damon, V Mironov… - Journal of cellular …, 2007 - Wiley Online Library
Periostin is predominantly expressed in collagen‐rich fibrous connective tissues that are
subjected to constant mechanical stresses including: heart valves, tendons, perichondrium …

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

EV Semina, R Reiter, NJ Leysens, WLM Alward… - Nature …, 1996 - nature.com
Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies
of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report …

[图书][B] Pediatric ophthalmology and strabismus

KW Wright, PH Spiegel, TC Hengst - 2013 - books.google.com
to the Second Edition here have been significant changes in pediatric Chapter 56 by Maya
Eibschitz-Tsimhoni, MD, is a T ophthalmology and strabismus since the first wonderful …

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

DY Nishimura, RE Swiderski, WLM Alward… - Nature …, 1998 - nature.com
A number of different eye disorders with the presence of early-onset glaucoma as a
component of the phenotype have been mapped to human chromosome 6p25. These …

Axenfeld-Rieger syndrome: more than meets the eye

LM Reis, M Maheshwari, J Capasso, H Atilla… - Journal of medical …, 2023 - jmg.bmj.com
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment
anomalies, with or without systemic features. The discovery of causative genes identified …

Axenfeld‐Rieger syndrome

M Seifi, MA Walter - Clinical genetics, 2018 - Wiley Online Library
Axenfeld‐Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of
developmental disorders affecting primarily the anterior segment of the eye, often leading to …

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Z Tümer, D Bach-Holm - European Journal of Human Genetics, 2009 - nature.com
Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder, which
encompasses a range of congential malformations affecting the anterior segment of the eye …

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

AJ Mears, T Jordan, F Mirzayans, S Dubois… - The American Journal of …, 1998 - cell.com
Genetic linkage, genome mismatch scanning, and analysis of patients with alterations of
chromosome 6 have indicated that a major locus for development of the anterior segment of …