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Publications by authors named "Marion Heller"

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A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.
Mathieu Fusaro Cyrille Coustal Laura Barnabei Quentin Riller Marion Heller

Clin Immunol

April 2024

Article Synopsis
  • * A case study of a 49-year-old patient revealed a significant 2.6-kb deletion in the NFKB1 gene, contributing to severe immune issues like respiratory infections and lymphoma, with similar findings in his brother who had milder symptoms.
  • * The case highlights the importance of extensive genetic analyses, including copy number variation (CNV), to better understand and diagnose complex genetic conditions in medical genetics. *
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The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.
Heller Marion Gaitch Natacha Martinez Brigitte Cartault François Renouil Michel

J Cyst Fibros

May 2015

Examination of genotype-phenotype correlations along with functional evaluation of CFTR mutations may not be straightforward. The c.1865G>A, p.

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p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
Brigitte Martinez Marion Heller Natacha Gaitch Dominique Hubert Pierre-Regis Burgel

J Hum Genet

April 2014

c.224G>A, p.Arg75Gln (R75Q) presumably leads to an amino-acid change from arginine to glutamine in the membrane-spanning domain of the CFTR protein.

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