R. Varon

发表

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Matthias Platzer, Karl Sperling, André Reis, 1998, Cell.

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

P. Jeggo, A. Gennery, K. Cerosaletti, 2001, Molecular cell.

Cancer risk of heterozygotes with the NBN founder mutation.

E. Seemanová, K. Sperling, P. Seeman, 2007, Journal of the National Cancer Institute.

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome‐like phenotype

I. Demuth, K. Sperling, D. Schindler, 2010, Human mutation.

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

D. Horn, M. Holtgrewe, K. Sperling, 2022, Human Genetics.

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

I. Demuth, E. Seemanová, K. Chrzanowska, 2007, Carcinogenesis.

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

H. G. Einsiedel, G. Henze, K. Seeger, 2001, Cancer research.

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.

Gemma K. Alderton, P. Jeggo, A. Børglum, 2004, Human molecular genetics.

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

T. Dörk, M. Gatei, Y. Lerenthal, 2009, American journal of human genetics.

Comparison of the Performance of QF-PCR with QPCR as A Rapid Molecular-Based Method for Sex Chromosome Aneuploidies Detection

H. Neitzel, R. Varon, V. Dutrannoy, 2014 .

New mutations in the ATM gene and clinical data of 25 AT patients

T. Dörk, I. Demuth, K. Chrzanowska, 2011, neurogenetics.

The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

M. Schuelke, P. Boffi, C. Hübner, 2012, Pediatrics.

Distress Type 1 (SMARD1) The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory

M. Schuelke, P. Boffi, C. Hübner, 2011 .

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, M. Schuelke, 2004, Journal of child neurology.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis

M. Schuelke, C. Hübner, K. von Au, 2007, Human mutation.

Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations

A. Ludolph, C. Hübner, A. Sperfeld, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

[Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome].

E. Seemanová, K. Sperling, P. Seeman, 2006, Casopis lekaru ceskych.

[Mutations in tumor suppressor gene NBS1 in adult patients with malignancies].

E. Seemanová, K. Sperling, P. Seeman, 2006, Casopis lekaru ceskych.

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

D. Horn, B. Horsthemke, G. Gillessen‐kaesbach, 2004, Human Genetics.

Polymorphisms in the DNA ligase IV gene might influence the risk of acute lymphoblastic leukemia in children

K. Seeger, K. Sperling, R. Varon, 2007, Leukemia.

Evidence for the deficiency of β-glucosidase-activating factor in fibroblasts of patients with I-cell disease

W. Kleijer, R. Varon, A. d’Azzo, 2004, Human Genetics.

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

E. Bertini, A. D’Amico, M. Schuelke, 2004, Human Genetics.

Nijmegen Breakage Syndrome mutations and risk of breast cancer

T. Dörk, C. Sohn, P. Hillemanns, 2008, International journal of cancer.

High prevalence of theNBN gene mutation c.657-661del5 in Southeast Germany

K. Sperling, K. Hoffmann, R. Varon, 2010, Journal of Applied Genetics.

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

E. Schröck, E. Seemanová, K. Sperling, 2005, Journal of Medical Genetics.

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

E. Seemanová, K. Chrzanowska, K. Sperling, 2000, European Journal of Human Genetics.

Genetic heterogeneity for a Nijmegen breakage‐like syndrome

I. Demuth, A. di Masi, A. Antoccia, 2003, Clinical genetics.

Nijmegen breakage syndrome

R. Varon, J. Hiel, Оксана Степанюк, 2000, Archives of disease in childhood.

Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

K. Chrzanowska, S. Jóźwiak, A. Reis, 2001, Journal of medical genetics.

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome

M. Herrmann, B. Wittwer, A. Reis, 2000, Clinical genetics.

A mutation in GJA8 (p.P88Q) is associated with “balloon-like” cataract with Y-sutural opacities in a family of Indian origin

K. Sperling, R. Varon, V. Vanita, 2008, Molecular vision.

Radiosensitivity of Ataxia Telangiectasia and Nijmegen Breakage Syndrome Homozygotes and Heterozygotes as Determined by Three-Color FISH Chromosome Painting

T. Dörk, M. Bremer, R. Bendix, 2002, Radiation research.

Kinetic Characterization of the Oxidation of Esculetin by Polyphenol Oxidase and Peroxidase

F. García-Cánovas, J. Tudela, R. Varon, 2007, Bioscience, biotechnology, and biochemistry.

Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract

K. Sperling, R. Varon, V. Vanita, 2009, Molecular vision.

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

D. Seelow, M. Schuelke, B. Lucke, 2010, PLoS genetics.

Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples

B. Horsthemke, A. Katalinic, A. Sutcliffe, 2005, Journal of Medical Genetics.

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk

P. Bugert, K. Hemminki, A. Meindl, 2010, Breast Cancer Research and Treatment.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Increased cancer risk of heterozygotes with NBS1 germline mutations in poland

Karl Sperling, Raymonda Varon, Galina Maneva, 2004, International journal of cancer.

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome

D. Horn, B. Horsthemke, K. Buiting, 2005, Human Genetics.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

M. Tekin, M. Krawczak, M. Nothnagel, 2016, PloS one.

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

P. Robinson, D. Mitter, K. Sperling, 2012, Molecular Syndromology.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

E. Derivery, A. Gautreau, K. Sperling, 2011, Human molecular genetics.

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

K. Sperling, A. di Masi, A. Antoccia, 2006, Human molecular genetics.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

E. Schröck, P. Bauer, C. Sutter, 2019, BMC Cancer.

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation

U. Wahn, L. Kalaydjieva, M. Macek, 1995, Human mutation.

Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk

A. Schneeweiss, H. Brenner, P. Bugert, 2011, Breast Cancer Research and Treatment.

Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome.

G. Grabenbauer, L. Distel, W. Holter, 2003, Medical and pediatric oncology.

QF-PCR as a molecular-based method for autosomal aneuploidies detection

H. Neitzel, R. Varon, D. El-kaffash, 2013 .

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

K. K. Yong, N. Risch, Hua Tang, 2003, Nature Genetics.

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.

Z. Herceg, Zhao-Qi Wang, I. Demuth, 2004, Human molecular genetics.

A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

P. Robinson, K. Sperling, R. Varon, 2007, Molecular vision.

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA

S. Krobitsch, I. Demuth, K. Sperling, 2018, PloS one.

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

E. Bertini, K. Bushby, F. Muntoni, 2003, Annals of neurology.

Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15

S. Böhringer, B. Horsthemke, K. Buiting, 2006, European Journal of Human Genetics.

Molecular genetic analysis of NBS1 in German melanoma patients

K. Hemminki, B. Burwinkel, B. Frank, 2007, Melanoma research.

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Raymonda Varon, H. Hoehn, D. Schindler, 2007, Orphanet journal of rare diseases.

MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

A. von Moers, I. Scheer, L. Neumann, 2003, AJNR. American journal of neuroradiology.

Chromosome instability and nibrin protein variants in NBS heterozygotes

A. Antoccia, C. Tanzarella, G. Marseglia, 2003, European Journal of Human Genetics.

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin

K. Sperling, R. Varon, V. Vanita, 2008, Molecular vision.

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

K. Sperling, R. Varon, V. Vanita, 2007, Molecular vision.

Mutation Analysis of the Nijmegen Breakage Syndrome Gene NBS1 in Nineteen Patients with Acute Myeloid Leukemia with Complex Karyotypes

W. Hiddemann, S. Schnittger, C. Schoch, 2003, Leukemia & lymphoma.

No evidence for deletions of the NBS1 gene in lymphomas.

R. Siebert, P. Wieacker, B. Schlegelberger, 2001, Cancer genetics and cytogenetics.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Antoccia, C. Tanzarella, A. Reis, 2001, Journal of medical genetics.

Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation

K. Sperling, R. Varon, O. Mioduszewska, 2006, International journal of cancer.

Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma.

K. Sperling, Y. Bignon, N. Uhrhammer, 2002, Oncology reports.

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

G. Dittmar, J. Mendell, U. Stephani, 2008, Journal of Molecular Medicine.

A 17‐year‐old adolescent with anorexia and gait abnormalities Camurati–Engelmann Syndrome

L. Gortner, G. Kutschke, R. Varon, 2012, Acta paediatrica.

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome

A. Röpke, P. Wieacker, W. Zumkeller, 2004, Prenatal diagnosis.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

E. Schröck, P. Bauer, C. Sutter, 2019, BMC Cancer.

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, M. Schuelke, 2008, Journal of child neurology.

Genetic deafness in a preterm infant with a critical postnatal course

M. Schuelke, R. Varon, E. Walch, 2006, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

[Nijmegen breakage syndrome in Slovakia].

E. Seemanová, K. Sperling, P. Seeman, 2004, Casopis lekaru ceskych.

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8

K. Sperling, E. Petek, K. Wagner, 2007, American journal of medical genetics. Part A.

A novel mutation and novel features in Nijmegen breakage syndrome.

A. Antoccia, C. Tanzarella, A. Reis, 2001, Journal of medical genetics.