Pectus Excavatum Is Part of the Clinical Spectrum of HNF1B MODY5

被引：9
|
作者：
Dubois-Laforgue, Daniele [1 ,2 ]
Bellanne-Chantelot, Christine [3 ,4 ]
Subra, Jean-Francois [5 ]
Timsit, Jose [1 ,2 ]
机构：
[1] Hop Cochin, AP HP, Dept Diabetol, F-75674 Paris, France
[2] Univ Paris 05, Paris, France
[3] Hop Univ Pitie Salpetriere Charles Foix, AP HP, Dept Genet, Paris, France
[4] Univ Paris 06, Paris, France
[5] Angers Univ Hosp, Dept Nephrol, Angers, France
来源：
DIABETES CARE | 2014年 / 37卷 / 04期
关键词：
MUTATIONS;
D O I：
10.2337/dc13-2822
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：E72 / E73
页数：2
相关论文
共 50 条
  • [41] Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY) and MODY 3 (HNF1A-MODY)?
    Karlsson, E.
    Shaat, N.
    Groop, L.
    DIABETIC MEDICINE, 2008, 25 (07) : 788 - 791
  • [42] Simplified screening criteria for HNF1B analysis
    Raaijmakers, Anke A.
    Mekahli, Djalila
    Levtchenko, Elena N.
    KIDNEY INTERNATIONAL, 2015, 87 (06) : 1258 - 1259
  • [43] Hypomagnesemia is underestimated in children with HNF1B mutations
    Kolbuc, Marcin
    Lessmeier, Lennart
    Salamon-Slowinska, Dorota
    Malecka, Ilona
    Pawlaczyk, Krzysztof
    Walkowiak, Jaroslaw
    Wysocki, Jacek
    Beck, Bodo B.
    Zaniew, Marcin
    PEDIATRIC NEPHROLOGY, 2020, 35 (10) : 1877 - 1886
  • [44] hnf1b Genes in Zebrafish Hindbrain Development
    Choe, Seong-Kyu
    Hirsch, Nicolas
    Zhang, Xiaolan
    Sagerstrom, Charles G.
    ZEBRAFISH, 2008, 5 (03) : 179 - 187
  • [45] Hypomagnesemia is underestimated in children with HNF1B mutations
    Marcin Kołbuc
    Lennart Leßmeier
    Dorota Salamon-Słowińska
    Ilona Małecka
    Krzysztof Pawlaczyk
    Jarosław Walkowiak
    Jacek Wysocki
    Bodo B. Beck
    Marcin Zaniew
    Pediatric Nephrology, 2020, 35 : 1877 - 1886
  • [46] Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1β/MODY5 mutations
    Haumaitre, Cecile
    Fabre, Melanie
    Cormier, Sarah
    Baumann, Clarisse
    Delezoide, Anne-Lise
    Cereghini, Silvia
    HUMAN MOLECULAR GENETICS, 2006, 15 (15) : 2363 - 2375
  • [47] Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases
    Heidet, Laurence
    Decramer, Stephane
    Pawtowski, Audrey
    Moriniere, Vincent
    Bandin, Flavio
    Knebelmann, Bertrand
    Lebre, Anne-Sophie
    Faguer, Stanislas
    Guigonis, Vincent
    Antignac, Corinne
    Salomon, Remi
    CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2010, 5 (06): : 1079 - 1090
  • [48] Clinical characteristics of patients referred for HNF1B testing - Polish population study
    Sztromwasser, P.
    Michalak, A.
    Malachowska, B.
    Antosik, K.
    Mludzik, P.
    Hogendorf, A.
    Zmyslowska, A.
    Mlynarski, W.
    Borowiec, M.
    Fendler, W.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1821 - 1822
  • [49] Genetic and Clinical Characterization of Patients with HNF1B-Related MODY in Croatia
    Baretic, Maja
    Caban, Domagoj
    Sertic, Jadranka
    JOURNAL OF PERSONALIZED MEDICINE, 2023, 13 (07):
  • [50] HNF1B MUTATIONS: REVIEW OF 109 AFFECTED PROBANDS
    Oram, R. A.
    Edghill, E. L.
    Adalat, S.
    Bockenhauer, D.
    Ellard, S.
    Woolf, A. S.
    Bingham, C.
    PEDIATRIC NEPHROLOGY, 2009, 24 (09) : 1804 - 1804
12345