Results 21 to 30 of about 79,532 (296)
Scientific Reports, 2021 Ametropia is reported as a common ophthalmic manifestation in craniosynostosis. We retrospectively compared childhood refractive error and ocular biometric features of fibroblast growth factor receptor (FGFR)-related syndromic craniosynostosis patients ...
Byung Joo Lee +3 more
doaj +1 more source
Non-Syndromal Facial Asymmetry [PDF]
Medical Journal Armed Forces India, 2005 Absolute facial symmetry of the two halves of the face is of very rare occurrence and some degree of right/left variation is not an exception but a rule. Although each person shares with the rest of the population, many characteristics, there are enough differences to make each human being a unique individual.
G K, Thapliyal +2 more
openaire +2 more sources
Molecular and Genetic Basis of Non-Syndromic Tooth Agenesis [PDF]
, 2015 Background: Tooth agenesis represents the most common anomaly of dental development, which according to Online Mendelian Inheritance in Man (OMIM) database, affects approximately 20% of the population.
A. Ševecová +3 more
core +1 more source
Global Medical Genetics, 2022 Non-syndromic cleft lip and palate (NSCLP) is one of the most common birth defects in humans with an overall prevalence of ∼1 in 700 live births around the world.
Mahamad Irfanulla Khan +2 more
doaj +1 more source
TGFbeta3 expression in non-syndromic orofacial clefts. [PDF]
, 2006 BACKGROUND: Genetic studies have demonstrated that non-syndromic cleft is composed of two separate entities - cleft palate only (CPO) and cleft of lip, alveolus with or without cleft palate (CL+/-P) -, both have a heterogeneous genetic background and ...
SCAPOLI, LUCA +10 more
core +3 more sources
Recent advances in genetic etiology of non-syndromic deafness in children
Frontiers in Neuroscience, 2023 Congenital auditory impairment is a prevalent anomaly observed in approximately 2–3 per 1,000 infants. The consequences associated with hearing loss among children encompass the decline of verbal communication, linguistic skills, educational progress ...
Yawei Feng +3 more
doaj +1 more source
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
Neurobiology of Disease, 2023 Hypothalamic hamartoma (HH) is a rare benign developmental brain lesion commonly associated with a well characterized epilepsy phenotype. Most individuals with HH are non-syndromic without additional developmental anomalies nor a family history of ...
Timothy E. Green +7 more
doaj +1 more source
Supernumerary teeth in non-syndromic patients [PDF]
Imaging Science in Dentistry, 2012 Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department.
Mali, Santosh +3 more
openaire +2 more sources
Hearing in 44-45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study. [PDF]
, 2012 Background The mitochondrial DNA mutation m.1555A>G predisposes to permanent idiosyncratic aminoglycoside-induced deafness that is independent of dose.
Pearce, K +9 more
core +1 more source
EDA Gene Mutations Underlie Non-syndromic Oligodontia [PDF]
, 2009 Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia.
Wu, H. +7 more
core +1 more source