Results 41 to 50 of about 58,186 (351)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Apert Syndrome: Report of a Case with Emphasis on Oral Manifestations

Frontiers in Dentistry, 2011
To report the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and periodontal disease and soft tissue alterations, in a subject with Apert syndrome.
B. Vadiati Saberi, A. Shakoorpour   +1 more
doaj  

Enamel defects and tooth eruption disturbances in children with sickle cell anemia

Brazilian Oral Research, 2018
Sickle cell anemia, a genetic disease caused by a mutation in the beta-globin gene, can present oral manifestations such as delayed tooth eruption and hypomineralized enamel and dentin.
Caroline Maria Igrejas LOPES, Marília Cabral CAVALCANTI, Ana Cláudia ALVES E LUNA, Kátia Maria Gonçalves MARQUES, Maria José RODRIGUES, Valdenice Aparecida DE MENEZES   +5 more
doaj   +1 more source

Association of sella turcica bridging and morphologic characteristics with palatally impacted canine in lateral cephalograms

Dentistry 3000, 2022
Introduction: Researchers have been interested in the relationship between sella turcica bridging and various dental anomalies. This study investigates the association of sella turcica bridging and morphologic characteristics with the palatally impacted ...
Nikoo Ghasemi, Soraya Akhoondi, Zohre Reyhani, Nima Motamed, Azin Nourian   +4 more
doaj   +1 more source

Mechanics and Mathematical Modeling of Class III Treatment with Orthodontic Appliances with a Movable Ramp [PDF]

, 2016
Treatment of class III is a current problem in orthodontics that requires constant improvement of its methods, development of new or modifications of known methods and techniques.
Doroshenko, N. (Nataliia), Filonenko, V. (Valeriy), Flis, P. (Petro), Grigorenko, A. (Alexander), Tormakhov, M. (Mykola)   +4 more
core   +2 more sources

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

A Case Report of Dilacerated Crown of a Permanent Mandibular Central Incisor

Frontiers in Dentistry, 2017
Trauma to primary teeth can lead to devastating sequels in development of permanent successors. The disturbance may range from enamel hypoplasia and/or hypo-calcification to arrest of dental bud development.
Behnam Bolhari, Salma Pirmoazen, Ensieh Taftian, Somayeh Dehghan   +3 more
doaj  

Trigeminal neuralgia - diagnosis and treatment [PDF]

, 2017
Introduction Trigeminal neuralgia (TN) is characterized by touch-evoked unilateral brief shock-like paroxysmal pain in one or more divisions of the trigeminal nerve. In addition to the paroxysmal pain, some patients also have continuous pain.
Bendtsen, Lars, Cruccu, Giorgio, DI STEFANO, Giulia, Maarbjerg, Stine   +3 more
core   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source