Results 71 to 80 of about 9,160 (248)
Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]
, 2011 Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe +3 more
core +1 more source
The association between hypodontia and dental development [PDF]
Clinical Oral Investigations, 2015 In this cross-sectional study, we aimed to investigate the pattern of hypodontia in the Dutch population and determine the association between hypodontia and dental development in children with and without hypodontia, applying three different standards, Dutch, French Canadian, and Belgian, to estimate dental age.We used dental panoramic radiographs ...
Mette A. R. Kuijpers +7 more
openaire +4 more sources
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients
Clinical Genetics, Volume 108, Issue 3, Page 334-346, September 2025.This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut +7 more
wiley +1 more source
Developmental absence of maxillary lateral incisors in the Portuguese population [PDF]
, 2005 The aim of this study was to evaluate the prevalence and clinical manifestation of developmental absence of maxillary permanent lateral incisors in the Portuguese population.
Maciel, P. +3 more
core +2 more sources
Česká Stomatologie a Praktické Zubní Lékařství, 2012 Background: Tooth agenesis means absence or incomplete development of tooth. It is a common human anomaly, which according to Online Mendelian Inheritance in Man database affects approximately 20% of the population.
L. Gábrlíková
doaj +1 more source
Wnt signaling during tooth replacement in zebrafish (Danio rerio) : pitfalls and perspectives [PDF]
, 2014 The canonical (13-catenin dependent) Wnt signaling pathway has emerged as a likely candidate for regulating tooth replacement in continuously renewing dentitions.
Elderweirdt, Fien +2 more
core +3 more sources
Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series
Pediatric Blood &Cancer, Volume 72, Issue 8, August 2025.ABSTRACT Background 10–15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).
Insiyah Campwala +9 more
wiley +1 more source
Craniofacial profile in Southern Chinese with hypodontia [PDF]
The European Journal of Orthodontics, 2009 The association between craniofacial morphology and congenitally missing teeth is at present unclear. The aims of this study were to investigate whether hypodontia is associated with changes in the sagittal skeletal profile and to identify putative relationships between the skeletal profile and the severity of hypodontia.
Chan, DWS, McMillan, AS, Samman, N
openaire +5 more sources
Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]
, 2013 Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj +2 more
core +1 more source
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson +2 more
wiley +1 more source