Jan D Marshall
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Explore the profile of Jan D Marshall including associated specialties, affiliations and a list of published articles.
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43
Citations
1195
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Recent Articles
1.
Waldman M, Han J, Reyes-Capo D, Bryant J, Carson K, Turkbey B, et al.
Mol Genet Metab
. 2018 Aug;
125(1-2):181-191.
PMID: 30064963
Alström Syndrome is a ciliopathy associated with obesity, insulin resistance/type 2 diabetes mellitus, cardiomyopathy, retinal degeneration, hearing loss, progressive liver and kidney disease, and normal cognitive function. ALMS1, the protein...
2.
Han J, Reyes-Capo D, Liu C, Reynolds J, Turkbey E, Turkbey I, et al.
J Clin Endocrinol Metab
. 2018 May;
103(7):2707-2719.
PMID: 29718281
Background: Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene ALMS1. AS is characterized by retinal dystrophy, sensory hearing...
3.
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients
Brofferio A, Sachdev V, Hannoush H, Marshall J, Naggert J, Sidenko S, et al.
Mol Genet Metab
. 2017 Jun;
121(4):336-343.
PMID: 28610912
Background: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Complex metabolic disturbances are common and cardiomyopathy is a well-recognized feature in infants as well as in older...
4.
Lindsey S, Brewer C, Stakhovskaya O, Kim H, Zalewski C, Bryant J, et al.
Am J Med Genet A
. 2017 Jun;
173(8):2210-2218.
PMID: 28573831
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant...
5.
Dotan G, Khetan V, Marshall J, Affel E, Armiger-George D, Naggert J, et al.
Ophthalmic Genet
. 2017 Jan;
38(5):440-445.
PMID: 28112973
Background: Alström syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene. The aim of this study was to characterize morphological retinal changes in Alström patients using spectral-domain...
6.
Boerwinkle C, Marshall J, Bryant J, Gahl W, Olivier K, Gunay-Aygun M
Pediatr Pulmonol
. 2016 Dec;
52(4):487-493.
PMID: 28029746
Objectives: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to...
7.
Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, et al.
Eur J Med Genet
. 2016 Aug;
59(9):444-51.
PMID: 27523285
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of sensory functions, resulting in visual and audiological impairment as well as metabolic disturbances. It is caused by recessively...
8.
Citton V, Maffei P, Marshall J, Baglione A, Collin G, Milan G, et al.
J Neuroradiol
. 2015 Dec;
43(3):195-9.
PMID: 26704672
Purpose: Alström syndrome (AS) is a rare monogenic ciliopathy characterized by cone-code dystrophy, leading to early blindness, and obesity. Early endocrinological dysfunctions, especially growth hormone deficiency and hypogonadism, are detected...
9.
Frolander H, Moller C, Rudner M, Mishra S, Marshall J, Piacentini H, et al.
Front Psychol
. 2015 Oct;
6:1426.
PMID: 26441796
Objective: This study focuses on cognitive prerequisites for the development of theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS)....
10.
Nadol Jr J, Marshall J, Bronson R
Audiol Neurootol
. 2015 Jun;
20(4):267-72.
PMID: 26111748
Alström's syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in the ALMS1 gene. Sensorineural hearing loss occurs in greater than 85% of patients. Histopathology of the inner...