Results 81 to 90 of about 4,034 (148)

Obesity, Food Selectivity, and Physical Activity in Individuals With Fragile X Syndrome

, 2010
National survey data from 884 families were used to examine the overall health of children and adults with fragile X syndrome. Results indicate the rate of obesity in adults with fragile X syndrome is similar to the general population (∼30%).
Ellen Bishop, Donald B. Bailey, Melissa Raspa, David Holiday, Murrey Olmsted   +4 more
core   +1 more source

Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

, 2013
Item does not contain fulltextMissense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome with or without BRESHECK syndrome ...
Konig, A., Bon, B.W. van, Virtanen, M., Koenig, Arne, De Silva, Deepthi, Virtanen, Marie, Oji, V., Fischer, Judith, Catteau, Benoit, Gunasekera, C.N., Cox, H., Silva, D. De, Megarbane, Andre, Catteau, B., Oeffner, Frank, Megarbane, H., Neidel, Ulrike, Theos, Amy, Bouadjar, B., Bon, Bregje W. van, Holder-Espinasse, Muriel, Hadj-Rabia, Smail, Cox, Helen, Bornholdt, Dorothea, Traupe, H., Vahlquist, A., Grzeschik, K.H., Bornholdt, D., Neidel, U., Megarbane, A., Kaminski, E., Atkinson, T.P., Traupe, Heiko, van Bon, Bregje W., Happle, R., Theos, A., Megarbane, Hala, Holder-Espinasse, M., Bouadjar, Bakar, Oji, Vinzenz, Atkinson, T. Prescott, Gunasekera, Chalukya N., Oeffner, F., Kaminski, Elke, Vahlquist, Anders,, Fischer, J., Grzeschik, Karl-Heinz, Hadj-Rabia, S., König, Arne, Virtanen, Marie,, Happle, Rudolf   +50 more
core   +1 more source

Olmsted syndrome with hypotrichosis.

Indian journal of dermatology, venereology and leprology, 2012
Olmsted syndrome is characterised by mutilating palmoplantar keratoderma with peri-orificial hyperkeratosis. We report the case of an 8-year old boy who presented with severe keratoderma of the soles since birth and of the palms from the age of 3 years. At 3 years of age hyperkeratotic plaques appeared on the elbows and knees.
D, Dogra, J S, Ravindraprasad, N, Khanna, R K, Pandhi   +3 more
openaire   +1 more source

Natural history of functional gastrointestinal disorders: comparison of two longitudinal population-based studies.

, 2012
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field.BACKGROUND: Functional gastrointestinal disorders are common but information on their natural history is limited. AIMS: To document the natural
Jonsdottir, Heidur Hrund, Hallgrimur Gudjonsson, Einar Bjornsson, Gudjonsson, Hallgrimur, Bjornsson, Einar, Olafsdottir, Linda Bjork, Linda Bjork Olafsdottir, Bjarni Thjodleifsson, Thjodleifsson, Bjarni, Heidur Hrund Jonsdottir   +9 more
core   +1 more source

Alcohol Consumption and Development of Acute Respiratory Distress Syndrome: A Population-Based Study

, 2009
This retrospective population-based study evaluated the effects of alcohol consumption on the development of acute respiratory distress syndrome (ARDS). Alcohol consumption was quantified based on patient and/or family provided information at the time of
Fernandez Javier, Lokendra Thakur, Marija Kojicic, Cesar A. Trillo-Alvarez, Ognjen Gajic, Sweta J. Thakur, Rahul Kashyap, Matthew S. Pieper, Rodrigo Cartin-Ceba   +8 more
core   +1 more source

Trends in the incidence of venous stasis syndrome and venous ulcer: A 25-year population-based study

, 2001
Background: The incidence rates of venous stasis syndrome and venous ulcer are uncertain, and trends in incidence are unknown. Methods: We performed a retrospective review of the complete (inpatient and outpatient) medical records of a community ...
Heit, John A., Lohse, Christine M., O'Fallon, W.Michael, Silverstein, Marc D., Petterson, Tanya M., Rooke, Thom W., Melton, L.Joseph, Mohr, David N.   +7 more
core   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Impact of venous thromboembolism, venous stasis syndrome, venous outflow obstruction and venous valvular incompetence on quality of life and activities of daily living: A nested case-control study

, 2010
The role of venous stasis syndrome (VSS) mechanisms (i.e. venous outflow obstruction [VOO] and venous valvular incompetence [VVI]) on quality of life (QoL) and activities of daily living (ADL) is unknown.
Thom W Rooke, Marc D Silverstein, Tanya M Petterson, John A Heit, Kent R Bailey, Aneel A Ashrani, L Joseph Melton, Brian D Lahr   +7 more
core   +1 more source

Non-alcoholic fatty liver disease is associated with an increased incidence of atrial fibrillation in patients with type 2 diabetes

, 2013
BackgroundThe relationship between non-alcoholic fatty liver disease (NAFLD) and atrial fibrillation (AF) in type 2 diabetes is currently unknown. We examined the relationship between NAFLD and risk of incident AF in people with type 2 diabetes.Methods ...
Zoppini Giacomo, S. Rodella, Filippo Valbusa, Mantovani William, Mantovani, W., BARBIERI, Enrico, Bertolini Lorenzo, ZOPPINI, Giacomo, L. Zenari, Byrne Christopher D., Zoppini, G., Giacomo Zoppini, Stefano Bonapace, Byrne, Christopher D., Stefano Rodella, Bertolini, L., CD Byrne, Bonapace Stefano, Giovanni Targher, L. Bertolini, Targher, G., Bonapace, S., Valbusa, F., Targher Giovanni, Christopher D Byrne, TARGHER, Giovanni, F. Valbusa, Barbieri, E., MANTOVANI, William, Barbieri Enrico, Rodella, S., Enrico Barbieri, Valbusa Filippo, Luciano Zenari, Zenari, L., William Mantovani, Rodella Stefano, Lorenzo Bertolini, Zenari Luciano, S. Bonapace   +39 more
core   +1 more source

Phenotype characterization and candidate genotyping of hypodontia in ectodermal dysplasia (ED) and non-syndromic groups

, 2011
Hypodontia is a common clinical challenge in orthodontics and dentistry. It occurs as a syndrome--ectodermal dysplasia (ED) and as non-syndromic tooth agenesis (NSTA).
Olmsted, Matthew J.
core   +1 more source