Results 11 to 20 of about 3,939 (213)
8488 Sex-Specific Differences in an Alstrom Syndrome Mouse Model [PDF]
J Endocr SocAbstract Disclosure: Y. Carcamo-Bahena: None. J. Youn: None. E. Lartigue: None. S. Sisley: None. Background: Alström syndrome is a monogenic autosomal recessive disorder caused by loss of the ALMS1 gene that affects 1 in 1 million. Loss of a functional ALMS1 protein leads to global disorganization of microtubules. Patients
Carcamo-Bahena, Y +3 more
europepmc +3 more sources
eLife, 2020 Asymmetrically dividing stem cells often show asymmetric behavior of the mother versus daughter centrosomes, whereby the self-renewing stem cell selectively inherits the mother or daughter centrosome. Although the asymmetric centrosome behavior is widely
Cuie Chen, Yukiko M Yamashita
doaj +5 more sources
Alstrom syndrome in four sibs from northern Jordan [PDF]
Annals of Saudi Medicine, 2006 Hamamy Hanan +5 more
doaj +5 more sources
High quality, patient centred andcoordinated care for Alstrom syndrome: amodel of care for an ultra-rare disease [PDF]
, 2015 Background: Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragmented care. We analysed the national
Barrett, Timothy +8 more
core +3 more sources
Alstrom syndrome: A case report.
Journal of Oral Science, 2001 Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and short stature. Previous studies, have reported no information regarding oral findings. This article describes oral findings in two cases of Alstrom syndrome.
Yasemin Benderli +6 more
openaire +5 more sources
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness [PDF]
Indian Journal of Clinical Biochemistry, 2015 Alstrom’s syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It’s a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till
Ashish Agarwal +8 more
openaire +4 more sources
Alström Syndrome: Genetics and Clinical Overview [PDF]
, 2011 Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood ...
Collin, Gayle B +3 more
core +4 more sources
Exudative retinopathy in a girl with alstrom syndrome due to a novel mutation [PDF]
British Journal of Ophthalmology, 2007 Coats disease is an uncommon telangiectatic retinal exudation that is most often seen in males. Similar changes are an uncommon but well known complication of retinitis pigmentosa, occurring in up to 3.6% of the affected individuals.1 This association has not been reported with Alstrom syndrome.
Christopher Geoffrey Woods +4 more
openaire +3 more sources
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BACKGROUND: Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome
강신애
core +3 more sources
Characteristic findings of alstrom syndrome with a case report
Open Journal of Clinical Diagnostics, 2013 Alstrom Syndrome is an autosomal recessive genetic disorder affecting multiple systems. The characteristic features of this syndrome are obesity, type 2 diabetes mellitus, rod-cone dystrophy, hearing loss. Developmental delay, nistagmus, dilated cardiomyopathy, hypertension, recurrent pulmonary infections, short stature, hepatic and renal failure ...
SILAN, FATMA +6 more
openaire +5 more sources