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  • 1-10 of  756 نتائج ل ""wolfram syndrome""

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Academic Journal

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report

  • Authors : Kokumai T; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan; Suzuki S

Subjects: Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/diagnosis ; Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics ; Optic Atrophy*/Optic Atrophy*/Optic Atrophy*/genetics

  • Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 102-105. Date of Electronic Publication: 2022 Aug 19.Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Wolfram syndrome type 1: a case series.

  • Authors : Du D; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.; Tuhuti A

Subjects: Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/diagnosis ; Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics ; Neurodegenerative Diseases*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 16; Vol. 18 (1), pp. 359. Date of Electronic Publication: 2023 Nov 16.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.

  • Authors : Sahli M; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco. .; Zrhidri A

Subjects: Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/diagnosis ; Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics ; Optic Atrophy*/Optic Atrophy*/Optic Atrophy*/diagnosis

  • Source: Journal of medical case reports [J Med Case Rep] 2023 Sep 27; Vol. 17 (1), pp. 409. Date of Electronic Publication: 2023 Sep 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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Academic Journal

Genomics of Wolfram Syndrome 1 (WFS1).

  • Authors : Kõks S; Perron Institute for Neurological and Translational Science, 8 Verdun Street, Nedlands, WA 6009, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA 6150, Australia.

Subjects: Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics ; Optic Atrophy*/Optic Atrophy*/Optic Atrophy*/genetics; Animals

  • Source: Biomolecules [Biomolecules] 2023 Sep 04; Vol. 13 (9). Date of Electronic Publication: 2023 Sep 04.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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Academic Journal

GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models.

  • Authors : Gorgogietas V; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium.; Rajaei B

Subjects: Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/drug therapy ; Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics ; Induced Pluripotent Stem Cells*

  • Source: Diabetologia [Diabetologia] 2023 Jul; Vol. 66 (7), pp. 1306-1321. Date of Electronic Publication: 2023 Mar 30.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

  • Authors : Maamouri R; Department of Ophthalmology, Habib Thameur hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Subjects: Diabetic Retinopathy*/Diabetic Retinopathy*/Diabetic Retinopathy*/diagnosis ; Diabetic Retinopathy*/Diabetic Retinopathy*/Diabetic Retinopathy*/genetics ; Optic Atrophy*/Optic Atrophy*/Optic Atrophy*/genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Jun; Vol. 44 (3), pp. 304-312. Date of Electronic Publication: 2022 Sep 12.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.

  • Authors : Li Y; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.; Gong S

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics ; Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/diagnosis ; Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics

  • Source: Scientific reports [Sci Rep] 2023 Jun 05; Vol. 13 (1), pp. 9127. Date of Electronic Publication: 2023 Jun 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.

  • Authors : Hao H; Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China.; Song L

Subjects: Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics; Humans ; Calcium/Calcium/Calcium/metabolism

  • Source: PLoS genetics [PLoS Genet] 2023 Jul 03; Vol. 19 (7), pp. e1010827. Date of Electronic Publication: 2023 Jul 03 (Print Publication: 2023).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.

  • Authors : Lim HD; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, Republic of Korea.; Lee SM

Subjects: Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/complications ; Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics ; Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/pathology Deafness, Autosomal Dominant 6

  • Source: BMC medical genomics [BMC Med Genomics] 2023 Apr 11; Vol. 16 (1), pp. 79. Date of Electronic Publication: 2023 Apr 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome.

Subjects: Wolfram Syndrome* ; Diabetes Mellitus, Type 1*/Diabetes Mellitus, Type 1*/Diabetes Mellitus, Type 1*/complications; Humans

  • Source: International journal of molecular sciences [Int J Mol Sci] 2023 Mar 15; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 15.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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  • 1-10 of  756 نتائج ل ""wolfram syndrome""