Publications by authors named "Raymonda Varon"

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The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.
Krystyna H Chrzanowska, Eva Seemanova, Raymonda Varon, Martin Digweed, Dorota Piekutowska-Abramczuk

Cancer Rep (Hoboken)· February 2023

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Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Heidemarie Neitzel, Raymonda Varon, Sana Chughtai, Josephine Dartsch, Véronique Dutrannoy-Tönsing

Hum Genet· November 2022

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Raymonda Varon

Hum Mutat· September 2019

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Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
Ilnaz Sepahi, Ulrike Faust, Marc Sturm, Kristin Bosse, Martin Kehrer, Raymonda Varon

BMC Cancer· August 2019

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Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.
Ilja Demuth, Simon K Krebs, Véronique Dutrannoy, Christian Linke, Sylvia Krobitsch, Raymonda Varon

PLoS One· April 2019

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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Eva Seemanova, Raymonda Varon, Jan Vejvalka, Petr Jarolim, Pavel Seeman

PLoS One· July 2017

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A 17-year-old adolescent with anorexia and gait abnormalities: Camurati-Engelmann syndrome.
Sascha Meyer, Ludwig Gortner, Raymonda Varon, Karin Ziegler, Georg Kutschke

Acta Paediatr· September 2012

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The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Maria Eckart, Ulf-Peter Guenther, Jan Idkowiak, Raymonda Varon, Benjamin Grolle

Pediatrics· January 2012

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New mutations in the ATM gene and clinical data of 25 AT patients.
Ilja Demuth, Véronique Dutrannoy, Wilson Marques, Heidemarie Neitzel, Detlev Schindler, Raymonda Varon

Neurogenetics· November 2011

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Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Fabienne Ropers, Emmanuel Derivery, Hao Hu, Masoud Garshasbi, Mohsen Karbasiyan, Raymonda Varon

Hum Mol Genet· July 2011

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Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk.
Rongxi Yang, Michelle Dick, Frederik Marme, Andreas Schneeweiss, Anne Langheinz, Raymonda Varon

Breast Cancer Res Treat· June 2011

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Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Véronique Dutrannoy, Ilja Demuth, Ulrich Baumann, Detlev Schindler, Kateryna Konrat, Raymonda Varon

Hum Mutat· September 2010

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A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.
Rongxi Yang, Bettina Schlehe, Kari Hemminki, Christian Sutter, Peter Bugert, Raymonda Varon

Breast Cancer Res Treat· June 2010

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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Anna Rajab, Volker Straub, Liza J McCann, Dominik Seelow, Raymonda Varon

PLoS Genet· March 2010

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Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Regina Waltes, Reinhard Kalb, Magtouf Gatei, Amanda W Kijas, Markus Stumm, Raymonda Varon

Am J Hum Genet· May 2009

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Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.
Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling

Mol Vis· April 2009

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Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
Ulf-Peter Guenther, Lusy Handoko, Raymonda Varon, Ulrich Stephani, Chang-Yong Tsao

J Mol Med (Berl)· January 2009

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A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling

Mol Vis· June 2008

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Nijmegen Breakage Syndrome mutations and risk of breast cancer.
Natalia Bogdanova, Sergei Feshchenko, Peter Schürmann, Regina Waltes, Britta Wieland, Raymonda Varon

Int J Cancer· February 2008

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Angela M Kaindl, Ulf-Peter Guenther, Sabine Rudnik-Schöneborn, Raymonda Varon, Klaus Zerres

J Child Neurol· February 2008

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A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling

Mol Vis· February 2008

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Cancer risk of heterozygotes with the NBN founder mutation.
Eva Seemanová, Petr Jarolim, Pavel Seeman, Raymonda Varon, Martin Digweed

J Natl Cancer Inst· December 2007

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A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Peter N Robinson

Mol Vis· October 2007

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A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
Kamlesh Guleria, Karl Sperling, Daljit Singh, Raymonda Varon, Jai Rup Singh

Mol Vis· September 2007

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