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Sebastian Beck

Research Profile

Physiology

Disorders

Concepts & Ideas

Pedigree

Procedures

Diagnosis, Differential

Chemicals & Drugs

Living Beings

Infants

Anatomy

Neurosecretory Systems

Occupations

Genetic Counseling

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Publications

TOP 3
Jan D Marshall; Timothy G Barrett; Sebastian Beck; Pietro Maffei; Richard B Paisey
Clinical utility gene card for: Alström syndrome.
Jan D Marshall; Sebastian Beck; Pietro Maffei; Jürgen K Naggert
Alström syndrome.
Jan D Marshall; Elizabeth G Hinman; Gayle B Collin; Sebastian Beck; Rita Cerqueira; Pietro Maffei; Gabriella Milan; Weidong Zhang; David I Wilson; Tom Hearn; Purificação Tavares; Roberto Vettor; Caterina Veronese; Mitchell Martin; W Venus So; Patsy M Nishina; Jürgen K Naggert
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

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All Publications

2011: Jan D Marshall; Timothy G Barrett; Sebastian Beck; Pietro Maffei; Richard B Paisey
Clinical utility gene card for: Alström syndrome.
European journal of human genetics : EJHG 2011;19(10):.
2007: Jan D Marshall; Sebastian Beck; Pietro Maffei; Jürgen K Naggert
Alström syndrome.
European journal of human genetics : EJHG 2007;15(12):1193-202.
2007: Jan D Marshall; Elizabeth G Hinman; Gayle B Collin; Sebastian Beck; Rita Cerqueira; Pietro Maffei; Gabriella Milan; Weidong Zhang; David I Wilson; Tom Hearn; Purificação Tavares; Roberto Vettor; Caterina Veronese; Mitchell Martin; W Venus So; Patsy M Nishina; Jürgen K Naggert
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Human mutation 2007;28(11):1114-23.
2007: Pietro Maffei; Mara Boschetti; Jan D Marshall; Richard B Paisey; Sebastian Beck; Eugenia Resmini; Gayle B Collin; Jürgen K Naggert; Gabriella Milan; Roberto Vettor; Francesco Minuto; Nicola Sicolo; Antonina Barreca
Characterization of the IGF system in 15 patients with Alström syndrome.
Clinical endocrinology 2007;66(2):269-75.
2005: Jan D Marshall; Roderick T Bronson; Gayle B Collin; Anne D Nordstrom; Pietro Maffei; Richard B Paisey; Catherine Carey; Seamus Macdermott; Isabelle Russell-Eggitt; Sarah E Shea; Judy Davis; Sebastian Beck; Gocha Shatirishvili; Cristina Maria Mihai; Maria Hoeltzenbein; Giovanni Battista Pozzan; Ian Hopkinson; Nicola Sicolo; Jürgen K Naggert; Patsy M Nishina
New Alström syndrome phenotypes based on the evaluation of 182 cases.
Archives of internal medicine 2005;165(6):675-83.
2002: Gayle B Collin; Jan D Marshall; Akihiro Ikeda; W Venus So; Isabelle Russell-Eggitt; Pietro Maffei; Sebastian Beck; Cornelius F Boerkoel; Nicola Sicolo; Mitchell Martin; Patsy M Nishina; Jürgen K Naggert
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Nature genetics 2002;31(1):74-8.

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