Results 31 to 40 of about 2,034 (157)

Theory-of-mind in individuals with Alström syndrome is related to Executive functions, and verbal ability

Frontiers in Psychology, 2015
Objective: This study focuses on cognitive prerequisites for the development of Theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS).
Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller, Mary eRudner, Mary eRudner, Mary eRudner, Sushmit eMishra, Jan D Marshall, Jan D Marshall, Heather Marie Piacentini, Björn eLyxell, Björn eLyxell, Björn eLyxell   +19 more
doaj   +1 more source

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2022
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi   +3 more
doaj   +1 more source

Spectral-domain optical coherence tomography findings in Alström syndrome. [PDF]

, 2017
BACKGROUND: Alström syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene. The aim of this study was to characterize morphological retinal changes in Alström patients using spectral-domain optical coherence tomography.
Dotan, Gad, Affel, Elizabeth, Khetan, Vikas, Collin, Gayle B, Armiger-George, Denise, Naggert, Juergen K, Marshall, Jan D, Levin, Alex V   +7 more
core   +1 more source

GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. [PDF]

PLoS ONE, 2014
Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto, Gabriella Milan, Gayle B Collin, Jan D Marshall, Fabio Stasi, Pietro Maffei, Roberto Vettor, Jürgen K Naggert   +7 more
doaj   +1 more source

Alström syndrome: genetics and clinical overview. [PDF]

, 2011
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood ...
Naggert, Jürgen K, Maffei, Pietro, Collin, Gayle B, Marshall, Jan D   +3 more
core   +1 more source

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years. [PDF]

Intractable Rare Dis Res, 2022
Alström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alström syndrome 1 (ALMS1) gene, located on chromosome 2p13.
Yakubi M, Cicek D, Demir M, Yildirim A, Hatipoglu N, Ozkul Y, Dundar M.   +6 more
europepmc   +2 more sources

Protection from clinical peripheral sensory neuropathy in Alström syndrome in contrast to early-onset type 2 diabetes [PDF]

, 2008
OBJECTIVE: Alström syndrome, with type 2 diabetes, and blindness could confer a high risk of foot ulceration. Clinical testing for neuropathy in Alström syndrome and matched young-onset type 2 diabetic subjects was therefore undertaken.
Shield, JPH, R. B. Paisey, R. M. Paisey, J. D. Marshall, Marshall, JD, Thomson, M P, L. Bower, Thomson, MP, Paisey, RB, Paisey, R M, Bower, L, Maffei, P, P. Maffei, Barnett, S, Shield, J P, Marshall, J D, J. P.H. Shield, S. Barnett, Paisey, RM, Paisey, R B, M. P. Thomson   +20 more
core   +1 more source

Five novel ALMS1 gene mutations in six patients with Alström syndrome [PDF]

, 2018
Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel ...
Aylin Ardagil, Ardagil, Aylin, Ayla Güven, Apaydin, Suheyla, Diana Valverde, Ozgul, Riza Koksal, Süheyla Apaydın, Rıza Köksal Özgül, Didem Yücel-Yılmaz, Kilinc, Suna, Guven, Ayla, Suna Kılınç, Yucel-Yilmaz, Didem, Valverde, Diana   +13 more
core   +1 more source

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome. [PDF]

, 2008
OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients
Naggert, Jürgen K, Malm, Eva, Naggert, J K, Hinman, Elizabeth G, Andreasson, S, Moller, C, Hinman, Elizabeth G., Nishina, Patsy M, Hinman, E G, Ponjavic, Vesna, Marshall, Jan D., Marshall, Jan D, Naggert, Jürgen K., Möller, Claes, Malm, E, Nishina, Patsy M., Ponjavic, V, Marshall, J D, Möller, Claes,, Nishina, P M, Andréasson, Sten   +20 more
core   +1 more source

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

EBioMedicine, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee   +3 more
doaj   +1 more source