Jan D Marshall

Summary

Affiliation: The Jackson Laboratory
Country: USA

Publications

  1. pmc Alström syndrome: genetics and clinical overview
    Jan D Marshall
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Curr Genomics 12:225-35. 2011
  2. pmc Brain involvement in Alström syndrome
    Valentina Citton
    Neuroradiology Unit, IRCCS San Camillo Hospital Venezia, and Department of Neurosciences, University of Padua, Padova, Italy
    Orphanet J Rare Dis 8:24. 2013
  3. pmc Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
    Cristina M Mihai
    Faculty of Medicine, Ovidius University, 145 Tomis Blvd, Constanta 900591, Romania
    J Med Case Reports 5:378. 2011
  4. ncbi request reprint Alström syndrome
    Jan D Marshall
    1The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Eur J Hum Genet 15:1193-202. 2007
  5. ncbi request reprint Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome
    Jan D Marshall
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Hum Mutat 28:1114-23. 2007
  6. ncbi request reprint New Alström syndrome phenotypes based on the evaluation of 182 cases
    Jan D Marshall
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Arch Intern Med 165:675-83. 2005
  7. pmc The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway
    Gayle B Collin
    The Jackson Laboratory, Bar Harbor, Maine, United States of America
    PLoS ONE 7:e37925. 2012
  8. ncbi request reprint Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
    Gayle B Collin
    The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
    Nat Genet 31:74-8. 2002
  9. pmc Differences in the clinical spectrum of two adolescent male patients with Alström syndrome
    Vladimir Kuburović
    Mother and Child Healthcare Institute of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia
    Clin Dysmorphol 22:7-12. 2013
  10. doi request reprint Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome
    Eva Malm
    Department of Ophthalmology, Lund University Hospital, SE 221 85, Lund, Sweden
    Arch Ophthalmol 126:51-7. 2008

Collaborators

Detail Information

Publications14

  1. pmc Alström syndrome: genetics and clinical overview
    Jan D Marshall
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Curr Genomics 12:225-35. 2011
    ....
  2. pmc Brain involvement in Alström syndrome
    Valentina 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...
  3. pmc Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
    Cristina M Mihai
    Faculty of Medicine, Ovidius University, 145 Tomis Blvd, Constanta 900591, Romania
    J Med Case Reports 5:378. 2011
    ..abstract:..
  4. ncbi request reprint Alström syndrome
    Jan 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...
  5. ncbi request reprint Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome
    Jan 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...
  6. ncbi request reprint New Alström syndrome phenotypes based on the evaluation of 182 cases
    Jan 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...
  7. pmc The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway
    Gayle 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...
  8. ncbi request reprint Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
    Gayle 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...
  9. pmc Differences in the clinical spectrum of two adolescent male patients with Alström syndrome
    Vladimir 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...
  10. doi request reprint Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome
    Eva 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)...
  11. ncbi request reprint 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...
  12. ncbi request reprint Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome
    Sunil 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...
  13. ncbi request reprint Cardiac manifestations of Alström syndrome: echocardiographic findings
    Amgad 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...
  14. ncbi request reprint Characterization of the IGF system in 15 patients with Alström syndrome
    Pietro 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...