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Ilse Kern
Researcher at Geneva College
Publications - 32
Citations - 1189
Ilse Kern is an academic researcher from Geneva College. The author has contributed to research in topics: Medicine & Antigen processing. The author has an hindex of 13, co-authored 27 publications receiving 1034 citations. Previous affiliations of Ilse Kern include Boston Children's Hospital & University of Geneva.
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis,Qi Zhang,Qin Liu,Bill H. Diplas,Lisa Davey,Jane Hartley,Corinne Stoetzel,Katarzyna Szymanska,Gokul Ramaswami,Clare V. Logan,Donna M. Muzny,Alice C. Young,David A. Wheeler,Pedro Cruz,Margaret Morgan,Lora Lewis,Praveen F. Cherukuri,Baishali Maskeri,Nancy F. Hansen,James C. Mullikin,Robert W. Blakesley,Gerard G. Bouffard,Gabor Gyapay,Susanne Rieger,Burkhard Tönshoff,Ilse Kern,Neveen A. Soliman,Thomas J. Neuhaus,Kathryn J. Swoboda,Hülya Kayserili,Tomas E. Gallagher,Richard A. Lewis,Carsten Bergmann,Edgar A. Otto,Sophie Saunier,Peter J. Scambler,Philip L. Beales,Joseph G. Gleeson,Eamonn R. Maher,Tania Attié-Bitach,Hélène Dollfus,Colin A. Johnson,Eric D. Green,Richard A. Gibbs,Friedhelm Hildebrandt,Eric A. Pierce,Nicholas Katsanis,Nicholas Katsanis +47 more
TL;DR: It is shown that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.
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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
L. Brun,Lock Hock Ngu,W. T. Keng,G. S. Ch'ng,Y. S. Choy,Wuh-Liang Hwu,Wang-Tso Lee,Michèl A.A.P. Willemsen,Marcel M. Verbeek,Tessa Wassenberg,Luc Régal,Simona Orcesi,Davide Tonduti,Patrizia Accorsi,H. Testard,Jose E. Abdenur,S. Tay,G. F. Allen,Simon Heales,Ilse Kern,Mitsuhiro Kato,Alessandro P. Burlina,C. Manegold,Georg F. Hoffmann,Nenad Blau +24 more
TL;DR: CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency, and treatment options are limited, in many cases not beneficial, and prognosis is uncertain.
Journal ArticleDOI
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
Sophie Lebon,Marie Chol,Paule Bénit,Claude Mugnier,D Chretien,Irina Giurgea,Ilse Kern,Eric Girardin,Lucie Hertz-Pannier,P. de Lonlay,Agnès Rötig,P. Rustin,Arnold Munnich +12 more
TL;DR: This study supports the view that an efficient molecular screening should be based on an accurate identification of respiratory chain enzyme deficiency, and suggests NADH-oxidoreductase (complex I) deficient patients should be screened for Leigh or Leigh-like encephalopathy.
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The two novel MHC class II transactivators RFX5 and CIITA both control expression of HLA-DM genes
TL;DR: It is reported here that CIITA and RFX5, although operating at different levels of transcriptional control, are also both essential regulators of HLA-DMA and -DMB genes, true for both the constitutive and the inducible mode of DM gene expression.
Journal ArticleDOI
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Martina Huemer,Martina Huemer,Sabine Scholl-Bürgi,Karine Hadaya,Ilse Kern,Ronny Beer,Klaus Seppi,Brian Fowler,Matthias R. Baumgartner,Matthias R. Baumgartner,Daniela Karall +10 more
TL;DR: Newborn screening for the cblC defect might be of benefit especially for late-onset patients since treatment seems efficient when initiated before irreversible organ damage and in general, inborn errors of metabolisms should be considered in unexplained medical cases at any age, especially in patients with multisystemic disease.