Results 261 to 270 of about 79,532 (296)

Multifactorial inheritance of non‐syndromic macrocephaly

Clinical Genetics, 1996
Objective: To reevaluate previous claims that non‐syndromic macrocephaly is usually inherited as an autosomal dominant trait. Design: Head size was measured in the parents and sibs of children with non‐syndromic macrocephaly. Outcome measures: If autosomal dominant inheritance is involved, the frequency distribution should be bimodal.
L, Arbour, G V, Watters, J G, Hall, F C, Fraser   +3 more
openaire   +2 more sources

Retinitis Pigmentosa (Non-syndromic)

2018
Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the genes, like PDE6 (PDE6A, PDE6B, PDE6G), RP25, and RPE65, have higher prevalence, about 2-5% of all cases. Overall, autosomal recessive RP accounts for about 15-20% of all cases of RP.
Stephen H, Tsang, Tarun, Sharma
openaire   +2 more sources

IRF6 mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families [PDF]

Clinical Genetics, 2016
Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish ...
Elizabeth J Leslie, A E Czeizel, Richard K Wilson   +2 more
exaly   +2 more sources

Multiple Supernumeraries in a Non-Syndromic Patient

Journal of Clinical Pediatric Dentistry, 2012
Presence of supernumerary teeth (ST) in non-syndromic patients is an exceptional event. The aim of this article is to present an unusual case of a non-syndromic 12 years old girl with 12 ST. In the reported case supernumeraries were found in three quadrants and the most common ST were bicuspids.
Ledesma-Montes C, Garcés-Ortíz, Juan Francisco, Salcido-García, Florentino, Hernández-Flores, Maricela, Garcés-Ortíz   +3 more
openaire   +2 more sources

Genetics and non-syndromic facial growth

Journal of Pediatric Genetics, 2015
Just as pediatricians and endocrinologists are interested in understanding statural growth patterns and the prediction of adult height, pediatric dentists, orthodontists, and oral/maxillofacial surgeons need to be knowledgeable about a patient’s facial growth patterns to effectively treat them.
James K, Hartsfield, Lorri A, Morford, Liliana M, Otero, David W, Fardo   +3 more
openaire   +3 more sources

Retinitis Pigmentosa (Non-syndromic)

The PDE complex has one α, one β, and two γ subunits. Mutations in each subunit can lead to AR-RP. The complex encodes a protein that play an important role in rod phototransduction and maintenance of the intracellular cGMP level by activating cGMP in response to photons.
Ahmet, Hondur, Stephen, Tsang, Tarun, Sharma, Vlad, Diaconita   +3 more
openaire   +2 more sources

Inherited ichthyosis: Non‐syndromic forms

The Journal of Dermatology, 2016
Abstract Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation.
Takuya, Takeichi, Masashi, Akiyama
openaire   +2 more sources

Non-syndromic oxycephaly and brachycephaly: a review

Child's Nervous System, 2012
Non-syndromic coronal synostoses oxycephaly and brachycephaly (NSCSOB) are rare. Their natural history, surgical management, and outcome are debated.We reviewed the available literature on NSCSOB. In addition, we reviewed retrospectively our experience with cases of NSCSOB, managed and operated by our joint craniofacial team since 1984.
Matthieu, Vinchon, Philippe, Pellerin, Marc, Baroncini, Alexis, Wolber, Patrick, Dhellemmes   +4 more
openaire   +2 more sources

Cloning Genes for Non-Syndromal Hearing Impairment

British Journal of Audiology, 1999
Over 45 genes that cause autosomal non-syndromic hearing impairment (NSHI) have been localized and many more are predicted to exist. To clone these genes, a number of different strategies can be used. This paper focuses on four general approaches: functional cloning, positional cloning, position-dependent candidate gene cloning, and position ...
Smith, R.J.H., Van Camp, G.
openaire   +3 more sources

[Non syndromic craniosynostosis].

Annales de chirurgie plastique et esthetique, 2017
Craniosynostosis are rare congenital malformations of the skull resulting from the premature fusion of one or several cranial sutures. Prevalence is considered in approximately 1 on 2000 births. Non syndromic craniosynostosis (NSC) or isolated form are the most frequent forms (85 % of the cases).
Y, Bennis, A, Wolber, M, Vinchon, A, Belkhou, V, Duquennoy-Martinot, P, Guerreschi   +5 more
openaire   +1 more source