about
Alström syndrome: current perspectivesCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesMouse models of ciliopathies: the state of the art.Degeneration and plasticity of the optic pathway in Alström syndromeMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsCharacterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability.Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational studyBrain involvement in Alström syndrome.The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in TurkeyPrimary cilia in pancreatic development and disease.Syndromic obesity: clinical implications of a correct diagnosis.EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.Alström Syndrome: Mutation Spectrum of ALMS1.Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Histopathology of the human inner ear in Alström's syndromeWhole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes.Alström syndrome: cardiac magnetic resonance findings.Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.Truncation of POC1A associated with short stature and extreme insulin resistanceNovel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.The genetics of childhood obesity and interaction with dietary macronutrientsAlström syndrome is associated with short stature and reduced GH reserve.Novel ALMS1 mutations in Chinese patients with Alström syndrome.Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.Clinical utility gene card for: Alström Syndrome - update 2013.Role of cilia in normal pancreas function and in diseased states.Genetic diseases that predispose to early liver cirrhosis.Metabolic regulation and energy homeostasis through the primary Cilium.Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Mutations in Alström protein impair terminal differentiation of cardiomyocytesThe cilium: a cellular antenna with an influence on obesity risk.Respiratory manifestations in 38 patients with Alström syndrome.Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.Available Evidence on Leber Congenital Amaurosis and Gene Therapy.Genetic evaluation of patients with Alström syndrome in the Polish population.Motile and non-motile cilia in human pathology: from function to phenotypes.
P2860
Q26801117-807E3E1F-F415-4190-AC6B-5671A57C998CQ27005637-4BFF7CC5-257B-4D9A-8180-352A86D095F0Q27692039-48B555A5-03C6-468E-A587-4738E1B3385EQ28250611-032D27BC-17A8-476D-8DA8-EBFE2F2A48ADQ28975783-1D075583-C118-4BBA-ADB3-91323FF30DDDQ30313499-3CD3FE08-5B1C-4322-9D45-666A42C8627CQ30401571-0E23FCA6-FDDD-4BAA-8F1F-20DDF3D758D1Q30408445-5A2254D7-0189-44D2-8C64-47F0A6F64E3AQ30457679-27FD312B-B007-4045-9FAA-ECF5EDC3D89EQ33768990-733EF51A-89C1-4FF1-A70F-AA004F37CEBEQ34421859-EA6366FE-D63F-49D6-B503-868D401A7287Q34501434-D4DEEFAD-2B75-4C82-BA02-CC968A7361EBQ34975099-D48A0F5F-B0A5-4E6E-A387-AEEFE70E0601Q35100466-10B8B3D4-F078-460F-B165-4E04FB22A832Q35762928-5DB88E8C-8420-44C3-BF24-8E8224BE34FCQ35956430-DE7EA2DA-9FEB-4A47-A578-D4240E306902Q35967803-27A3886B-7892-4A3A-9412-59A5FD8262C9Q36008079-39385A45-7DD3-438A-8562-FE3FACAFF5F3Q36174413-A18863F8-4149-42D7-91A5-750DA448EC1BQ36402564-E84A85ED-ECF9-463E-9440-D20A0122B0C8Q36488996-DB87284E-2EB1-483F-8A0C-5012EA5092F2Q36596454-F943F56E-7507-4562-BFF6-D98A6D8E8059Q36749428-E6F7F395-E113-43F0-B75D-B70464DEFA99Q36803853-F0685E80-B6AB-4FAF-9AEA-48611997E3B9Q37033843-0A5EFDB4-4A6C-429D-B4F9-FC271853AC8CQ37175784-EF8FED48-F0F5-4C14-81B4-A8F640C5DC95Q37183414-A06A80F7-386B-46CA-977C-C0F284344C4CQ37235200-EE3A1A2A-DDA2-48A0-85DE-9A32BA910A62Q38214800-BA6CC156-6F8A-4F7B-8913-7CB5FBCD701CQ38240870-0460D12C-3A72-43AC-A2B2-2EEB5FF4319FQ38301656-1570B133-8FB2-4EFE-8CC4-0CEC46B68645Q38671656-3319F088-3347-4742-9350-721C131430B9Q38787335-BBF85984-7E66-4EA1-9F30-E6B7916CA2B5Q38840384-AFCA8631-6F98-4B5E-9D24-06BBDDA90890Q38870745-3BD2C636-E8F0-45AE-BBDF-BC877E13F11FQ38913095-12CF3FEB-8630-4C24-AFB4-DB30C3C7C29FQ38937337-EE53F07D-A81D-4DAC-B4E6-0171B3F5A046Q38968148-D89CA008-07E7-46CD-BF8A-430C6144F9E0Q38973267-6FA38361-9D68-48EE-93EE-1BB6500663CDQ39012190-80CD80AC-A2D7-4EC7-8CD3-7EAE5C71FD54
P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Alström syndrome: genetics and clinical overview
@en
Alström syndrome: genetics and clinical overview
@nl
type
label
Alström syndrome: genetics and clinical overview
@en
Alström syndrome: genetics and clinical overview
@nl
prefLabel
Alström syndrome: genetics and clinical overview
@en
Alström syndrome: genetics and clinical overview
@nl
P2093
P2860
P1433
P1476
Alström syndrome: genetics and clinical overview
@en
P2093
Gayle B Collin
Jan D Marshall
Jürgen K Naggert
Pietro Maffei
P2860
P304
P356
10.2174/138920211795677912
P577
2011-05-01T00:00:00Z