Literature DB >> 21358663

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.

Claudia Izzi1, Pietro Maffei2, Gabriella Milan2, Regina Tardanico3, Paolo Foini4, Jan Marshall5, Alessandra Marega6, Francesco Scolari7.   

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Year:  2011        PMID： 21358663      PMCID： PMC3071282          DOI： 10.1038/ki.2010.514

Source DB:  PubMed          Journal:  Kidney Int        ISSN： 0085-2538            Impact factor:   10.612


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  5 in total

1.  Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

Authors:  J A L Minton; K R Owen; C J Ricketts; N Crabtree; G Shaikh; S Ehtisham; J R Porter; C Carey; D Hodge; R Paisey; M Walker; T G Barrett
Journal:  J Clin Endocrinol Metab       Date:  2006-05-23       Impact factor: 5.958

2.  Alström syndrome.

Authors:  Jan D Marshall; Sebastian Beck; Pietro Maffei; Jürgen K Naggert
Journal:  Eur J Hum Genet       Date:  2007-10-17       Impact factor: 4.246

3.  New Alström syndrome phenotypes based on the evaluation of 182 cases.

Authors:  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
Journal:  Arch Intern Med       Date:  2005-03-28

Review 4.  When cilia go bad: cilia defects and ciliopathies.

Authors:  Manfred Fliegauf; Thomas Benzing; Heymut Omran
Journal:  Nat Rev Mol Cell Biol       Date:  2007-11       Impact factor: 94.444

Review 5.  Nephronophthisis-associated ciliopathies.

Authors:  Friedhelm Hildebrandt; Weibin Zhou
Journal:  J Am Soc Nephrol       Date:  2007-05-18       Impact factor: 10.121
  5 in total
  8 in total

1.  Alström Syndrome: Mutation Spectrum of ALMS1.

Authors:  Jan D Marshall; Jean Muller; Gayle B Collin; Gabriella Milan; Stephen F Kingsmore; Darrell Dinwiddie; Emily G Farrow; Neil A Miller; Francesca Favaretto; Pietro Maffei; Hélène Dollfus; Roberto Vettor; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2015-05-18       Impact factor: 4.878

2.  Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Authors:  Meryl Waldman; Joan C Han; Daniela P Reyes-Capo; Joy Bryant; Kathryn A Carson; Baris Turkbey; Peter Choyke; Jürgen K Naggert; William A Gahl; Jan D Marshall; Meral Gunay-Aygun
Journal:  Mol Genet Metab       Date:  2018-07-24       Impact factor: 4.797

Review 3.  Alport syndrome--insights from basic and clinical research.

Authors:  Jenny Kruegel; Diana Rubel; Oliver Gross
Journal:  Nat Rev Nephrol       Date:  2012-11-20       Impact factor: 28.314

4.  Histopathology of the human inner ear in Alström's syndrome.

Authors:  Joseph B Nadol; Jan D Marshall; Roderick T Bronson
Journal:  Audiol Neurootol       Date:  2015-06-24       Impact factor: 1.854

5.  Alström syndrome: genetics and clinical overview.

Authors:  Jan D Marshall; Pietro Maffei; Gayle B Collin; Jürgen K Naggert
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236

6.  Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.

Authors:  Richard B Paisey; Jamie Smith; Catherine Carey; Timothy Barrett; Fiona Campbell; Pietro Maffei; Jan D Marshall; Christopher Paisey; Richard P Steeds; Nicola C Edwards; Susan Bunce; Tarekegn Geberhiwot
Journal:  J Clin Endocrinol Metab       Date:  2015-06-11       Impact factor: 5.958

7.  Clinical characteristics of individual organ system disease in non-motile ciliopathies.

Authors:  Angela Grochowsky; Meral Gunay-Aygun
Journal:  Transl Sci Rare Dis       Date:  2019-07-04

8.  Consensus clinical management guidelines for Alström syndrome.

Authors:  Natascia Tahani; Pietro Maffei; Hélène Dollfus; Richard Paisey; Diana Valverde; Gabriella Milan; Joan C Han; Francesca Favaretto; Shyam C Madathil; Charlotte Dawson; Matthew J Armstrong; Adrian T Warfield; Selma Düzenli; Clair A Francomano; Meral Gunay-Aygun; Francesca Dassie; Vincent Marion; Marina Valenti; Kerry Leeson-Beevers; Ann Chivers; Richard Steeds; Timothy Barrett; Tarekegn Geberhiwot
Journal:  Orphanet J Rare Dis       Date:  2020-09-21       Impact factor: 4.123
  8 in total

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