Results 51 to 60 of about 10,357 (213)

Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family [PDF]

, 2016
Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations ...
Aquino, Sibele Nascimento de, Cardoso, Aline-Francoise, Della Coletta, Ricardo, Frota, Ana-Cláudia, Gomes, Andreia, Martelli Júnior, Hercílio, Paranaíba, Lívia M. R., Santos Neto, Pedro Eleutério dos, Solia-Nasser, Luciano   +8 more
core   +1 more source

The genetic basis of tooth agenesis: Basic concepts and genes involved

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Tooth agenesis is the most prevalent craniofacial congenital malformation in humans. While tooth agenesis may be associated with several syndromes, non-syndromic hypodontia refers to the congenital absence of a few teeth in the absence of any other ...
Sharat Chandra Pani
doaj   +1 more source

Sexual dimorphism, pattern of third molar and mandibular second premolar agenesis in Indian paediatric orthodontic patients

Saudi Dental Journal, 2017
Objective: To determine and compare the prevalence and pattern of agenesis of third molar and mandibular second premolar in paediatric orthodontic patients of age group 9–15 for sexual dimorphism.
Apurva Mishra, Ramesh K. Pandey
doaj   +1 more source

Comparison of the dental anomaly frequency in patients with and without mandibular second premolar agenesis

Journal of Dental Sciences, 2015
Background/purpose: There is remarkably little information in the literature comparing the prevalence of dental anomalies associated with mandibular second premolar (MP2) agenesis with control groups.
Kenan Cantekin, Mevlut Celikoglu
doaj   +1 more source

A review of implant provision for hypodontia patients within a Scottish referral centre [PDF]

, 2017
Background: Implant treatment to replace congenitally missing teeth often involves multidisciplinary input in a secondary care environment. High quality patient care requires an in-depth knowledge of treatment requirements.
A Dasmah, AK Yap, B Thilander, B. Burns, CE Misch, DA Buser, E Nyström, F Raes, F Schwarz, GO Gallucci, J Cosyn, J Derks, L Anweigi, L. Savarrio, M Dierens, M Hof, NE Epstein, R Fürhauser, S Todescan, T Berglundh, V. Bissell, V. Grieg   +21 more
core   +1 more source

Investigation of tooth transposition in a non-syndromic Turkish anatolian population : characteristic features and associated dental anomalies [PDF]

, 2010
Objective: The aims of this study were to investigate the frequency and characteristics of dental transpositions and to evaluate associated dental anomalies in a large sample of Turkish Anatolian population.
Celikoglu, Mevlut, Miloglu, Ozkan, Oztek, Ozkan   +2 more
core   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

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, Chhabra, Nidhi, Goswami, Mridula   +2 more
core   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Hypohyperdontia: Agenesis of three third molars and mandibular centrals associated with midline supernumerary tooth in mandible

Contemporary Clinical Dentistry, 2010
Agenesis of teeth in a patient who also presents with a supernumerary tooth is one of the rare numerical anomalies in human dentition. Agenesis of third molars was shown to be associated with other missing permanent teeth.
Sivakumar Nuvvula, M Kiranmayi, G Shilpa, S.V.S.G. Nirmala   +3 more
doaj   +1 more source