Results 51 to 60 of about 76,951 (280)

An unwonted case report of nonsyndromic oligodontia

Indian Journal of Dental Sciences, 2020
Dental agenesis is a common developmental anomaly that affects approximately 20% of the population and results in a reduction of the number of teeth present in the oral cavity.
Sumita Jain, Priyanka Gupta, Himanshu Kanungo   +2 more
doaj   +1 more source

On the role of the corpus callosum in interhemispheric functional connectivity in humans [PDF]

, 2017
Resting state functional connectivity is defined in terms of temporal correlations between physiologic signals, most commonly studied using functional magnetic resonance imaging. Major features of functional connectivity correspond to structural (axonal)
Hacker, Carl D., Leuthardt, Eric C., Limbrick, David D., Mitra, Anish, Raichle, Marcus E., Roland, Jarod L., Shimony, Joshua S., Smyth, Matthew D., Snyder, Abraham Z.   +8 more
core   +2 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

A possible role of GDNF expression by which cabergoline use affects corpus callosum

Journal of Pediatric and Neonatal Individualized Medicine, 2018
A variety of malformations have been associated with cabergoline use during gestation. Recently we had a preterm male infant referred to our Neonatal Intensive Care Unit diagnosed with corpus callosum agenesis confirmed by brain ultrasound and brain ...
Georgios Mitsiakos, Anastasia Gkampeta
doaj   +1 more source

Rare non‐syndromic bilateral maxillary and mandibular permanent canine agenesis

Clinical Case Reports, 2022
Oligodontia or absence of teeth such as the Canines is rare and is often accompanied with several other missing teeth. This condition may also be accompanied with morphological and growth related changes in the teeth and the maxillofacial complex ...
Anand Marya, Mohmed Isaqali Karobari, Artak Heboyan   +2 more
doaj   +1 more source

Partial Pericardial Agenesis

Methodist DeBakey Cardiovascular Journal, 2023
Congenital absence of the pericardium is a rare anomaly, affecting the left pericardium (86%) more than the right, with male predilection distribution (3:1). In the majority of cases, the condition is asymptomatic. We describe a case of a 55-year-old female with a history of chronic hypercapnic respiratory failure secondary to restrictive lung disease ...
Akila Bersali, Faisal Nabi
openaire   +3 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings [PDF]

, 2016
Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral ...
Aikten, Alanay, Amstutz, Anton, Ashkenazy, Bevan-Thomas, Bronstein, Camera, Cuillier, Dillon, Doğer, Filly, Filly, Geipel, Gonçalves, Gupta, Hadi, Hamanishi, Jeanty, Keret, Lessoway, Lin, Macé, Mailath-Pokorny, Maldjian, Merz, Nemec, Oh, Otera, Parakh, Salomon, Silvas, Torre, Westberry   +33 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Agenesis of the Maxillary First Permanent Molars: A Clinical and Radiographic Evaluation of a Rare Case

Journal of Dentistry Indonesia, 2017
Congenitally missing first permanent maxillary molars is a rare finding in any given population. The reported prevalence rate of maxillary first molar agenesis ranges from 0.2 to 1.5%. The exact aetiology of this dental anomaly is not clearly documented.
Sreekanth kumar Mallineni, Azher Mohiuddin Maohmmad, Anil Kumar patil, Ranvitha Priya Kodali   +3 more
doaj   +1 more source