Results 101 to 110 of about 787,640 (369)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Plesippus francescana (Frick) from the late Pliocene, Coso Mountains, California, with a review of the genus Plesippus [PDF]

, 1936
Two mammalian types, occurring in a late Pliocene fauna from the Coso Mountains, California, have already been described. Among the more abundant forms in this assemblage are the horses of the genus Plesippus.
Schultz, John R.
core  

Radiographic Study of Developmental Alteration in Tooth Number Among Children in IIUM Dental Clinic [PDF]

, 2016
Background: The aim of this research was to determine the prevalence, distribution and association of developmental alteration in tooth number with gender, location, and presence of delayed eruption of tooth among children who attended to Student's ...
Ardini, Y. D. (Yunita), Azaldin, N. H. (Nurul), Ismail, N. (Nabilahuda), Sukmasari, S. (Susi)   +3 more
core   +3 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Carnivora from the Sespe of the Las Posas Hills, California [PDF]

, 1933
The generic assemblage of carnivores known at present from the Kew Quarry of the Las Posas Hills, Ventura County, California, is perhaps most noteworthy because of its resemblance to that recorded from the John Day.
Stock, Chester
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The presence of dental fluorosis in the permanent dentition in Doha [PDF]

Eastern Mediterranean Health Journal, 2004
The main purpose of this study is to draw attention to the presence and the severity of dental fluorosis in Doha [Qatar] through the high level of registered cases of fluorosis found among the groups examined. Of 4800 people aged 8-50 years, 2654 [55.29%] had dental fluorosis of some degree.
openaire   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

The Loss of First Permanent Molar in Young Patients

Česká Stomatologie a Praktické Zubní Lékařství, 2013
Introduction: The loss of first permanent molar significantly reduces the biological quality of the dentition. In addition to prosthetic rehabilitation in indicated cases, we can also take advantage of orthodontic space closure with mesial shift of the ...
M. Koťová, J. Hovorka
doaj   +1 more source

Orthodontic treatment need and prevalence of malocclusions in the Orthodontic Unit of "Sapienza - University of Rome" : a six - year clinical experience [PDF]

, 2019
AIM The objective of this epidemiological survey was to investigate the dental-skeletal features of subjects attending the Public Dental Service in U.O.C. (Orthodontic Department of “La Sapienza University of Rome) and compare them with the existing body
Giordano, Alessandra
core  

Evaluation of the esthetic properties of developmental defects of enamel: a spectrophotometric clinical study [PDF]

, 2015
Objectives. Detailed clinical quantification of optical properties of developmental defect of enamel is possible with spectropho- tometric evaluation. Developmental defects of enamel (DDE) are daily encountered in clinical practice. DDE are an alteration
Corridore, Denise, Debora, Pasqualotto, Guerra, Fabrizio, Mazur, Marta Danuta, Nardi, Gianna Maria, Ottolenghi, Livia   +5 more
core   +4 more sources