Results 171 to 180 of about 889,739 (199)

Alstrom's Syndrome: An Experience of Tertiary Care Center

Journal of Pediatric Genetics, 2021
AbstractAlstrom's syndrome (AS) is an autosomal recessively inherited multisystemic disorder that falls under the umbrella of ciliopathy. It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis. Biallelic pathogenic
Ghadah, Gosadi, Maryam, Busehail, Zuhair, Rahbeeni   +2 more
openaire   +2 more sources

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome [PDF]

Journal of Molecular Medicine, 2021
Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated ...
Atsushi Nakano, Gary Satou, Aaron Nagiel   +2 more
exaly   +3 more sources

Alstrom syndrome—a diagnostic dilemma

International Journal of Diabetes in Developing Countries, 2016
Alstrom syndrome is a rare autosomal recessive genetic disorder first described in 1959. The syndrome with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases have been reported from India.
Rukmini M S, Madan Gopal Rajan, Puneeth A, Soundarya M   +3 more
exaly   +2 more sources

Novel Unreported Variants in Alstrom Syndrome 1 Gene Causing Alstrom Syndrome

Journal of Ophthalmological Society of West Bengal
Abstract We report a case of Alstrom Syndrome (ALMS) due to mutation in ALMS1 and EYS gene caused by an unreported variant. The case revealed a heterozygous variant c.3298del on exon8 and c.11250del on exon16 of the ALMS1 gene. It is a rare syndrome that has a variable presentation, and discovering new variants can help in better ...
Rupak Roy, Ahana Sen
exaly   +2 more sources

Alström's Syndrome: Neurological Manifestations and Genetics

Journal of Pediatric Neurology, 2022
AbstractAlström syndrome (ALMS) is a rare ciliopathy with pleiotropic and wide spectrum of clinical features. It is autosomal recessively inherited and associated with mutations in ALMS1, a gene involved in cilia functioning. High clinical heterogeneity is the main feature of ALMS.
Spoto, Giulia, Pironti, Erica, Amore, Greta, Prato, Adriana, Scuderi, Anna, Colucci, Pia V., Ceravolo, Ida, Farello, Giovanni, Salpietro, Vincenzo, Iapadre, Giulia, Di Rosa, Gabriella, Dicanio, Daniela   +11 more
openaire   +1 more source

Immunodeficiency in a Child with Alström Syndrome

The Indian Journal of Pediatrics, 2018
[No abstract available]
Taha Resid Ozdemir, Neslihan Edeer Karaca, Jan Davis Marshall, Necil Kutukculer, Guzide Aksu, Riza Koksal Ozgul, Aysegul Ozanturk, Esra Isik, Bilcag Akgun, Hamiyet Hekimci Ozdemir, Sukran Darcan, Ferda Ozkinay, Ozgur Cogulu   +12 more
openaire   +2 more sources

Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and Literature Review [PDF]

Journal of Diabetes and Obesity, 2017
exaly   +2 more sources

Letter to the editor: Defining the cardiovascular phenotype of adults with Alstrom Syndrome

International Journal of Cardiology
Bazil Azeem
exaly   +3 more sources

Alstrom syndrome with hepatic dysfunction: report of one case.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2000
Alstrom syndrome is a rare autosomal recessive disorder associated with early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. We report a 10-year-old boy with Alstrom syndrome presenting with general malaise and abnormal liver function for 1 year.
K W, Chang, J W, Hou, S J, Lin, M S, Kong   +3 more
openaire   +1 more source

Alstrom syndrome - the case for secondary prevention

Diabetes Research and Clinical Practice, 2000
Richard B Paisey, Catherine M Carey, Matthew J Parkinson, Charlotte Parkinson, Michael D Cole   +4 more
openaire   +1 more source