Literature DB >> 24652735

Pectus excavatum is part of the clinical spectrum of HNF1B MODY5.

Danièle Dubois-Laforgue1, Christine Bellanné-Chantelot, Jean-François Subra, José Timsit.   

Abstract

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Year:  2014        PMID： 24652735     DOI： 10.2337/dc13-2822

Source DB:  PubMed          Journal:  Diabetes Care        ISSN： 0149-5992            Impact factor:   19.112


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  4 in total

1.  Mullerian Duct Cyst Causing Bladder Outlet Obstruction in a Patient with HNF-1β Gene Deletion.

Authors:  Matthew Honore; Ross Fowler; Anthony J Kiosoglous
Journal:  Curr Urol       Date:  2016-05-20

Review 2.  Undiagnosed MODY: Time for Action.

Authors:  Jeffrey W Kleinberger; Toni I Pollin
Journal:  Curr Diab Rep       Date:  2015-12       Impact factor: 4.810

3.  Elevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study.

Authors:  Beata Małachowska; Justyna Janikiewicz; Karolina Pietrowska; Krystyna Wyka; Joanna Madzio; Kamila Wypyszczak; Marcin Tkaczyk; Sławomir Chrul; Rafał Zwiech; Anna Hogendorf; Maciej T Małecki; Maciej Borowiec; Adam Krętowski; Wojciech Młynarski; Agnieszka Dobrzyń; Michał Ciborowski; Wojciech Fendler
Journal:  Metabolomics       Date:  2022-02-18       Impact factor: 4.290

4.  A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

Authors:  Paweł Sztromwasser; Arkadiusz Michalak; Beata Małachowska; Paulina Młudzik; Karolina Antosik; Anna Hogendorf; Agnieszka Zmysłowska; Maciej Borowiec; Wojciech Młynarski; Wojciech Fendler
Journal:  Pediatr Diabetes       Date:  2020-01-29       Impact factor: 4.866
  4 in total

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