Works matching DE "ALSTROM syndrome"

Results: 50

Histopathology of the Human Inner Ear in Alström's Syndrome.

Published in:

Audiology & Neurotology, 2015, v. 20, n. 4, p. 267, doi. 10.1159/000381935

By:

Nadol Jr, Joseph B.;
Marshall, Jan D.;
Bronson, Roderick T.

Publication type:

Article

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.

Published in:

Yonago Acta Medica, 2024, v. 67, n. 2, p. 93, doi. 10.33160/yam.2024.05.010

By:

Keiichi Hanaki;
Tomoe Kinoshita;
Masanobu Fujimoto;
Yuki Sonoyama-Kawashima;
Susumu Kanzaki;
Noriyuki Namba

Publication type:

Article

Alström syndrome: current perspectives.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 171, doi. 10.2147/TACG.S56612

By:

Álvarez-Satta, María;
Castro-Sánchez, Sheila;
Valverde, Diana

Publication type:

Article

Dual intravitreal foreign body: Intravitreal cilia in penetrating injury.

Published in:

Oman Journal of Ophthalmology, 2015, v. 8, n. 3, p. 181, doi. 10.4103/0974-620X.169887

By:

Azad, Shorya;
Takkar, Brijesh;
Azad, Rajvardhan;
Bypareddy, Ravi;
Rathi, Anubha

Publication type:

Article

Poster Presentations Friday 25 January 2013.

Published in:: Developmental Medicine & Child Neurology, 2013, v. 55, p. 52, doi. 10.1111/dmcn.12070
Publication type:: Article

Functions and dysfunctions of the mammalian centrosome in health, disorders, disease, and aging.

Published in:

Histochemistry & Cell Biology, 2018, v. 150, n. 4, p. 303, doi. 10.1007/s00418-018-1698-1

By:

Schatten, Heide;
Sun, Qing-Yuan

Publication type:

Article

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.

Published in:

Pediatric Diabetes, 2018, v. 19, p. 47, doi. 10.1111/pedi.12772

By:

Hattersley, Andrew T.;
Greeley, Siri A. W.;
Polak, Michel;
Rubio‐Cabezas, Oscar;
Njølstad, Pål R.;
Mlynarski, Wojciech;
Castano, Luis;
Carlsson, Annelie;
Raile, Klemens;
Chi, Dung V.;
Ellard, Sian;
Craig, Maria E.

Publication type:

Article

Alström syndrome is associated with short stature and reduced GH reserve.

Published in:

Clinical Endocrinology, 2013, v. 79, n. 4, p. 529, doi. 10.1111/cen.12180

By:

Romano, S.;
Maffei, P.;
Bettini, V.;
Milan, G.;
Favaretto, F.;
Gardiman, M.;
Marshall, J. D.;
Greggio, N. A.;
Pozzan, G. B.;
Collin, G. B.;
Naggert, J. K.;
Bronson, R.;
Vettor, R.

Publication type:

Article

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 51, doi. 10.1038/jhg.2014.101

By:

Ozantürk, Ayşegül;
Marshall, Jan D;
Collin, Gayle B;
Düzenli, Selma;
Marshall, Robert P;
Candan, Şükrü;
Tos, Tülay;
Esen, İhsan;
Taşkesen, Mustafa;
Çayır, Atilla;
Öztürk, Şükrü;
Üstün, İhsan;
Ataman, Esra;
Karaca, Emin;
Özdemir, Taha Reşid;
Erol, İlknur;
Eroğlu, Fehime Kara;
Torun, Deniz;
Parıltay, Erhan;
Yılmaz-Güleç, Elif

Publication type:

Article

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 1, doi. 10.1038/jhg.2014.85

By:

Ozantürk, Ayşegül;
Marshall, Jan D;
Collin, Gayle B;
Düzenli, Selma;
Marshall, Robert P;
Candan, Şükrü;
Tos, Tülay;
Esen, İhsan;
Taşkesen, Mustafa;
Çayır, Atilla;
Öztürk, Şükrü;
Üstün, İhsan;
Ataman, Esra;
Karaca, Emin;
Özdemir, Taha Reşid;
Erol, İlknur;
Eroğlu, Fehime Kara;
Torun, Deniz;
Parıltay, Erhan;
Yılmaz-Güleç, Elif

Publication type:

Article

Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.

Published in:

2013

By:

Wani, Irfan Yousuf;
Ganie, Ashraf;
Mehraj, Iqra;
Wani, Yasser Yousuf;
Naik, Muzafar

Publication type:

Case Study

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 510, doi. 10.1111/cge.12645

By:

Nikopoulos, K.;
Butt, G. U.;
Farinelli, P.;
Mudassar, M.;
Domènech‐Estévez, E.;
Samara, C.;
Kausar, M.;
Masroor, I.;
Chrast, R.;
Rivolta, C.;
Siddiqi, S.

Publication type:

Article

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 96, doi. 10.1111/j.1399-0004.2012.01883.x

By:

Taşdemir, S;
Güzel‐Ozantürk, A;
Marshall, JD;
Collin, GB;
Özgül, RK;
Narin, N;
Dündar, M;
Naggert, JK

Publication type:

Article

Hematopoietic Stem Cell Progenitors Driving Metabolic Disturbance in Alström Syndrome.

Published in:

Endocrinology, 2023, v. 164, n. 9, p. 1, doi. 10.1210/endocr/bqad110

By:

Ademolu, Adegbenga B;
Geberhiwot, Tarekegn

Publication type:

Article

Hematopoietic Stem Cells and Metabolic Deterioration in Alström Syndrome, a Rare Genetic Model of the Metabolic Syndrome.

Published in:

Endocrinology, 2023, v. 164, n. 3, p. 1, doi. 10.1210/endocr/bqad011

By:

Dassie, Francesca;
Albiero, Mattia;
Bettini, Silvia;
Cappellari, Roberta;
Milan, Gabriella;
Ciciliot, Stefano;
Naggert, Jurgen K;
Avogaro, Angelo;
Vettor, Roberto;
Maffei, Pietro;
Fadini, Gian Paolo

Publication type:

Article

Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome.

Published in:

2013

By:

Mahamid, Jamal;
Lorber, Avraham;
Horovitz, Yoseph;
Shalev, Stavit;
Collin, Gayle;
Naggert, Jürgen;
Marshall, Jan;
Spiegel, Ronen

Publication type:

Report

Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170694

By:

Braune, Katarina;
Volkmer, Ines;
Staege, Martin S.

Publication type:

Article

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease.

Published in:

2015

By:

Van Groenendael, Stephanie;
Giacovazzi, Luca;
Davison, Fabian;
Holtkemper, Oliver;
Zexin Huang;
Qiaoying Wang;
Parkinson, Kay;
Barrett, Timothy;
Geberhiwot, Tarekegn;
Huang, Zexin;
Wang, Qiaoying

Publication type:

journal article

Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0292-z

By:

Edwards, Nicola C.;
Moody, William E.;
Mengshi Yuan;
Warfield, Adrian T.;
Cramb, Robert;
Paisey, Richard B.;
Geberhiwot, Tarekegn;
Steeds, Richard P.

Publication type:

Article

Brain involvement in Alström syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-24

By:

Citton, Valentina;
Favaro, Angela;
Bettini, Vera;
Gabrieli, Joseph;
Milan, Gabriella;
Greggio, Nella Augusta;
Marshall, Jan D;
Naggert, Jürgen K;
Manara, Renzo;
Maffei, Pietro

Publication type:

Article

Cochlear Implants in Alström Syndrome.

Published in:

Annals of Otology, Rhinology & Laryngology, 2020, v. 129, n. 8, p. 833, doi. 10.1177/0003489420903061

By:

Gheller, Flavia;
Gallo, Samanta;
Trevisi, Patrizia;
Caserta, Ezio;
Dassie, Francesca;
Maffei, Pietro;
Bovo, Roberto

Publication type:

Article

Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome.

Published in:

Liver International, 2016, v. 36, n. 11, p. 1704, doi. 10.1111/liv.13163

By:

Gathercole, Laura L.;
Hazlehurst, Jonathan M.;
Armstrong, Matthew J.;
Crowley, Rachel;
Boocock, Sarah;
O'Reilly, Michael W.;
Round, Maria;
Brown, Rachel;
Bolton, Shaun;
Cramb, Robert;
Newsome, Phillip N.;
Semple, Robert K.;
Paisey, Richard;
Tomlinson, Jeremy W.;
Geberhiwot, Tarekegn

Publication type:

Article

The Alstrom Syndrome: A Rare Cause of Extensive Atrial Fibrosis and Incessant Atrial Tachycardia in the Young.

Published in:

Journal of Atrial Fibrillation & Electrophysiology, 2023, v. 16, n. 7, p. 65

By:

Tonko, Johanna B.

Publication type:

Article

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 390, doi. 10.1002/mgg3.296

By:

Chen, Jian‐Hua;
Geberhiwot, Tarekegn;
Barrett, Timothy G.;
Paisey, Richard;
Semple, Robert K.

Publication type:

Article

Clinical utility gene card for: Alström Syndrome - update 2013.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.61

By:

Marshall, Jan D;
Maffei, Pietro;
Beck, Sebastian;
Barrett, Timothy G;
Paisey, Richard;
Naggert, Jürgen K

Publication type:

Article

Supporting children with Alström syndrome and their family.

Published in:

2014

By:

Leeson-Beevers, Kerry

Publication type:

Opinion

Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes.

Published in:

BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2679-1

By:

Hostelley, Timothy L.;
Lodh, Sukanya;
Zaghloul, Norann A.

Publication type:

Article

Diseases of the primary cilia: a clinical characteristics review.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 3, p. 611, doi. 10.1007/s00467-024-06528-w

By:

Alzarka, Bakri;
Charnaya, Olga;
Gunay-Aygun, Meral

Publication type:

Article

Alström syndrome: current perspectives.

Published in:

Cancer Management & Research, 2015, v. 7, p. 171, doi. 10.2147/TACG.S56612

By:

Álvarez-Satta, María;
Castro-Sánchez, Sheila;
Valverde, Diana

Publication type:

Article

Neuralgic amyotrophy in the lower extremity diagnosed with gadolinium-enhanced lumbar magnetic resonance imaging: A case report.

Published in:

2017

By:

Min Cheol Chang

Publication type:

Case Study

Expert's comment concerning Grand Rounds case entitled 'Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome' (by Bronek M. Boszczyk, Rishi Mugesh Kanna and Daniela Gradil).

Published in:

European Spine Journal, 2012, v. 21, n. 12, p. 2425, doi. 10.1007/s00586-012-2304-1

By:

Yuan, Wen

Publication type:

Article

Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome.

Published in:

European Spine Journal, 2012, v. 21, n. 12, p. 2418, doi. 10.1007/s00586-012-2305-0

By:

Kanna, Rishi;
Gradil, Daniela;
Boszczyk, Bronek

Publication type:

Article

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.

Published in:

2021

By:

Meurs, Kathryn M.;
Williams, Brian G.;
DeProspero, Dylan;
Friedenberg, Steven G.;
Malarkey, David E.;
Ezzell, J. Ashley;
Keene, Bruce W.;
Adin, Darcy B.;
DeFrancesco, Teresa C.;
Tou, Sandra

Publication type:

journal article

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

Published in:

BMC Pediatrics, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2431-13-130

By:

Farmer, Amy;
Aymé, Ségolène;
de Heredia, Miguel Lopez;
Maffei, Pietro;
McCafferty, Susan;
Młynarski, Wojciech;
Nunes, Virginia;
Parkinson, Kay;
Paquis-Flucklinger, Véronique;
Rohayem, Julia;
Sinnott, Richard;
Tillmann, Vallo;
Tranebjærg, Lisbeth;
Barrett, Timothy G.

Publication type:

Article

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Published in:

2017

By:

Lin Yang;
Zixiu Li;
Mei Mei;
Xiaomei Fan;
Guodong Zhan;
Huijun Wang;
Guoying Huang;
Mingbang Wang;
Weidong Tian;
Wenhao Zhou

Publication type:

Case Study

Contact dermatitis in Alstroemeria workers.

Published in:

Occupational Medicine, 1998, v. 48, n. 6, p. 397, doi. 10.1093/occmed/48.6.397

By:

van der Mei, I. A. F.;
de Boer, E. M.;
Bruynzeel, D. P.

Publication type:

Article

ALSTRÖM SENDROMULU İKİ KARDEŞ OLGU.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2012, v. 6, n. 4, p. 232

By:

BAŞ, Veysel Nijat;
ÇETİNKAYA, Semra;
YILMAZ AĞLADIOĞLU, Sebahat;
PELTEK KENDİRCİ, Havva Nur;
AYCAN, Zehra

Publication type:

Article

Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome.

Published in:

Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00110

By:

Tsai, Meng-Che;
Yu, Hui-Wen;
Liu, Tsunglin;
Chou, Yen-Yin;
Chiou, Yuan-Yow;
Chen, Peng-Chieh

Publication type:

Article

Aspects of learning from the perspective of people with Alström syndrome.

Published in:

Disability & Rehabilitation, 2016, v. 38, n. 7, p. 644, doi. 10.3109/09638288.2015.1055381

By:

Rönnåsen, Berit;
Möller, Kerstin;
Möller, Claes;
Lyxell, Björn;
Anderzen-Carlsson, Agneta

Publication type:

Article

PATAS, a First-in-Class Therapeutic Peptide Biologic, Improves Whole-Body Insulin Resistance and Associated Comorbidities In Vivo.

Published in:

2022

By:

Schreyer, Edwige;
Obringer, Cathy;
Messaddeq, Nadia;
Kieffer, Bruno;
Zimmet, Paul;
Fleming, Alexander;
Geberhiwot, Tarekegn;
Marion, Vincent

Publication type:

journal article

Adipose Tissue Malfunction Drives Metabolic Dysfunction in Alström Syndrome.

Published in:

2021

By:

Kang, Sona

Publication type:

journal article

Theory of Mind and Cognitive Function in Adults with Alström or Usher Syndrome.

Published in:

Journal of Visual Impairment & Blindness, 2016, v. 110, n. 5, p. 349, doi. 10.1177/0145482X1611000506

By:

Henricson, Cecilia;
Frölander, Hans-Erik;
Möller, Claes;
Lyxell, Björn

Publication type:

Article

Alstrom syndrome-a diagnostic dilemma.

Published in:

International Journal of Diabetes in Developing Countries, 2017, v. 37, n. 1, p. 88, doi. 10.1007/s13410-016-0520-7

By:

M S, Rukmini;
Rajan, Madan;
A, Puneeth;
M, Soundarya

Publication type:

Article

Wolfram to Alstrom: Analysis of a Diagnostic Error.

Published in:

Online Journal of Health & Allied Sciences, 2021, v. 20, n. 2, p. 1

By:

Chakrabarty, Annapoorna;
Rai, Shipra;
Saravu, Kavitha

Publication type:

Article

Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.

Published in:

BMC Endocrine Disorders, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12902-018-0315-6

By:

Baig, Shanat;
Veeranna, Vishy;
Bolton, Shaun;
Edwards, Nicola;
Tomlinson, Jeremy W.;
Manolopoulos, Konstantinos;
Moran, John;
Steeds, Richard P.;
Geberhiwot, Tarekegn

Publication type:

Article

ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.

Published in:

Journal of Molecular Medicine, 2019, v. 97, n. 1, p. 1, doi. 10.1007/s00109-018-1714-x

By:

Hearn, Tom

Publication type:

Article

Identification of Two Cases of Ciliopathy- Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.

Published in:

2015

By:

Min Kyeong Kim;
Soo Heon Kwak;
Hye Seung Jung;
Young Min Cho;
Seong Yeon Kim;
Kyong Soo Park;
Shinae Kang

Publication type:

Case Study

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene.

Published in:

Acta Ophthalmologica (1755375X), 2018, v. 96, n. 4, p. e445, doi. 10.1111/aos.13612

By:

Nasser, Fadi;
Weisschuh, Nicole;
Maffei, Pietro;
Milan, Gabriella;
Heller, Corina;
Zrenner, Eberhart;
Kohl, Susanne;
Kuehlewein, Laura

Publication type:

Article

MORFAN syndrome: A rarity but a reality!

Published in:

Indian Journal of Dermatology, 2019, v. 64, n. 3, p. 231, doi. 10.4103/ijd.IJD_160_19

By:

Roy, Gourab;
Sen, Sumit;
Poddar, Shreya

Publication type:

Article

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.

Published in:

2018

By:

Han, Joan C;
Reyes-Capo, Daniela P;
Liu, Chia-Ying;
Reynolds, James C;
Turkbey, Evrim;
Turkbey, Ismail Baris;
Bryant, Joy;
Marshall, Jan D;
Naggert, Jürgen K;
Gahl, William A;
Yanovski, Jack A;
Gunay-Aygun, Meral

Publication type:

journal article