Genomes and Genes
Jan D Marshall
Affiliation: The Jackson Laboratory
- Alström syndrome: genetics and clinical overviewJan D Marshall
The Jackson Laboratory, Bar Harbor, Maine, USA
Curr Genomics 12:225-35. 2011....
- Brain involvement in Alström syndromeValentina Citton
Neuroradiology Unit, IRCCS San Camillo Hospital Venezia, and Department of Neurosciences, University of Padua, Padova, Italy
Orphanet J Rare Dis 8:24. 2013..To date, brain Magnetic Resonance Imaging (MRI) abnormalities in AS have not been explored...
- Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case reportCristina M Mihai
Faculty of Medicine, Ovidius University, 145 Tomis Blvd, Constanta 900591, Romania
J Med Case Rep 5:378. 2011....
- Alström syndromeJan D Marshall
1The Jackson Laboratory, Bar Harbor, ME 04609, USA
Eur J Hum Genet 15:1193-202. 2007..There is no specific therapy for Alström Syndrome, but early diagnosis and intervention can moderate the progression of the disease phenotypes and improve the longevity and quality of life for patients...
- Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndromeJan D Marshall
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Hum Mutat 28:1114-23. 2007..0007). This data may have implications for the understanding of the molecular mechanisms of ALMS1 and provides the basis for further investigation of how alternative splicing of ALMS1 contributes to the severity of the disease...
- New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Arch Intern Med 165:675-83. 2005..We provide new details on cardiologic, hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alström syndrome and describe the histopathologic findings in 5 individuals...
- The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathwayGayle B Collin
The Jackson Laboratory, Bar Harbor, Maine, United States of America
PLoS ONE 7:e37925. 2012..Our results suggest a role for ALMS1 variants in the recycling endosome pathway and give us new insights into the pathogenesis of a subset of clinical phenotypes associated with ALMS...
- Alström Syndrome: Mutation Spectrum of ALMS1Jan D Marshall
The Jackson Laboratory, Bar Harbor, Maine
Hum Mutat 36:660-8. 2015..Here, we also provide an overview of all ALMS1 mutations identified to date. ..
- Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeGayle B Collin
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Nat Genet 31:74-8. 2002..The identification of ALMS1 provides an entry point into a new pathway leading toward the understanding of both Alström syndrome and the common diseases that characterize it...
- Differences in the clinical spectrum of two adolescent male patients with Alström syndromeVladimir Kuburović
Mother and Child Healthcare Institute of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia
Clin Dysmorphol 22:7-12. 2013..The unusual phenotypes of clonic-tonic seizures and severe cognitive abnormalities and lipodystrophy-like adiposity pattern have not been documented previously in Alström syndrome and may be an under-reported abnormality...
- Full-field electroretinography and marked variability in clinical phenotype of Alström syndromeEva Malm
Department of Ophthalmology, Lund University Hospital, SE 221 85, Lund, Sweden
Arch Ophthalmol 126:51-7. 2008..To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG)...
- The Alström syndrome: is it a rare or unknown disease?Pietro Maffei
Dipartimento di Scienze Mediche e Chirurgiche, Universita degli Studi di Padova
Ann Ital Med Int 17:221-8. 2002..We have summarized our personal clinical data and the information from the scientific literature on the topic in order to provide an up-to-date review on the Alström syndrome...
- Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndromeSunil K Sinha
Pediatric Endocrinology Division of Infant s and Children s Hospital ofBrooklyn at Maimonides Hospital, Brooklyn, NY 11219, USA
J Pediatr Endocrinol Metab 20:1045-52. 2007..Early onset of insulin resistance and DM2 are key components of this syndrome...
- Cardiac manifestations of Alström syndrome: echocardiographic findingsAmgad N Makaryus
Columbia University Medical Center, New York, New York, USA
J Am Soc Echocardiogr 20:1359-63. 2007..Prior reports have demonstrated that the dilated CMP of Alström syndrome occurs in about 62% of patients with this syndrome. To date, there have been no reports examining the echocardiographic features of Alström-related heart disease...
- Characterization of the IGF system in 15 patients with Alström syndromePietro Maffei
Medical and Surgical Sciences, University School of Medicine, Padua, Italy
Clin Endocrinol (Oxf) 66:269-75. 2007..Among its diverse spectrum of clinical features are phenotypes associated with deficiencies of the GH/IGF-I axis, including short stature, obesity, insulin resistance, hypertriglyceridaemia and heart failure...