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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
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- Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
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- Journal of Human Genetics, 2015, v. 60, n. 1, p. 1, doi. 10.1038/jhg.2014.85
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- Article
Histopathology of the Human Inner Ear in Alström's Syndrome.
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- Audiology & Neurotology, 2015, v. 20, n. 4, p. 267, doi. 10.1159/000381935
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- Article
Histopathology of the human inner ear in Alström's syndrome.
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- 2015
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- journal article
Clinical utility gene card for: Alström Syndrome - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.61
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- Article
Respiratory manifestations in 38 patients with Alström syndrome.
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- Pediatric Pulmonology, 2017, v. 52, n. 4, p. 487, doi. 10.1002/ppul.23607
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- Article
High affinity concanavalin a binding to sterol-depleted L cells.
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- Journal of Cellular Physiology, 1979, v. 100, n. 3, p. 539, doi. 10.1002/jcp.1041000316
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- Article
Clinical utility gene card for: Alström syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.72
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- Article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 485, doi. 10.1038/ejhg.2010.207
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- Article
Alström Syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1193, doi. 10.1038/sj.ejhg.5201933
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- Article
γ-Interferon is one of several direct B cell-maturing lymphokines.
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- Nature, 1984, v. 309, n. 5971, p. 801, doi. 10.1038/309801a0
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- Article
Effect of Metformin and Rosiglitazone in a Prepubertal Boy with Alström Syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 9, p. 1045, doi. 10.1515/jpem.2007.20.9.1045
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- Article
GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1<sup>GT/GT</sup>, a Mouse Model for Obesity and Insulin Resistance.
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- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109540
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- Article
The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway.
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- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037925
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- Publication type:
- Article
LARGE Expression Augments the Glycosylation of Glycoproteins in Addition to - α-Dystroglycan Conferring Laminin Binding.
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- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019081
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- Article
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
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- Nature Genetics, 2002, v. 31, n. 1, p. 74, doi. 10.1038/ng867
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- Article
Characterization of the IGF system in 15 patients with Alström syndrome.
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- Clinical Endocrinology, 2007, v. 66, n. 2, p. 269, doi. 10.1111/j.1365-2265.2007.02721.x
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- Article
Brain involvement in Alström syndrome.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-24
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- Article
Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.
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- 2015
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- Publication type:
- journal article
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
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- Human Mutation, 2007, v. 28, n. 11, p. 1114, doi. 10.1002/humu.20577
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- Article
The progression from obesity to type 2 diabetes in Alström syndrome.
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- 2012
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- Publication type:
- Journal Article
The progression from obesity to type 2 diabetes in Alström syndrome.
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- Pediatric Diabetes, 2012, v. 13, n. 1, p. 59, doi. 10.1111/j.1399-5448.2011.00789.x
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- Article
Transgenic T cell receptor interactions in the lymphoproliferative and autoimmune syndromes of lpr and gld mutant mice.
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- European Journal of Immunology, 1992, v. 22, n. 2, p. 499, doi. 10.1002/eji.1830220231
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- Article
Bone marrow transplantation from mutant lpr/ lpr mice. Functional abnormalities rather than alloantigenic differences appear to determine the development of a graft- vs. -host-like syndrome.
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- European Journal of Immunology, 1990, v. 20, n. 9, p. 2057, doi. 10.1002/eji.1830200926
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- Article
Alström Syndrome: Mutation Spectrum of ALMS1.
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- Human Mutation, 2015, v. 36, n. 7, p. 660, doi. 10.1002/humu.22796
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- Article
TGFA: exon–intron structure and evaluation as a candidate gene for Alström syndrome.
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- Clinical Genetics, 1999, v. 55, n. 1, p. 61, doi. 10.1034/j.1399-0004.1999.550111.x
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- Article
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2210, doi. 10.1002/ajmg.a.38316
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- Publication type:
- Article
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
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- Journal of Clinical Endocrinology & Metabolism, 2018, v. 103, n. 7, p. 2707, doi. 10.1210/jc.2018-00496
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- Publication type:
- Article
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
- Published in:
- 2018
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- Publication type:
- journal article
Homozygosity Mapping of Alström Syndrome to Chromosome 2p.
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- Human Molecular Genetics, 1997, v. 6, n. 2, p. 213, doi. 10.1093/hmg/6.2.213
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- Article
Protection from clinical peripheral sensory neuropathy in Alström syndrome in contrast to early-onset type 2 diabetes.
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- 2009
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- Publication type:
- journal article
Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes.
- Published in:
- Diabetes Care, 2009, v. 32, n. 3, p. 462, doi. 10.2337/dc08-1584
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- Publication type:
- Article