C. Fauth

发表

New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization.

R. Eils, K. Saracoglu, J. Brown, 2001, Cytometry.

Three-Dimensional Maps of All Chromosomes in Human Male Fibroblast Nuclei and Prometaphase Rosettes

R. Eils, T. Cremer, K. Saracoglu, 2005, PLoS biology.

Analysis of Chromosomal Alterations in Non-Small Cell Lung Cancer by Multiplex-FISH, Comparative Genomic Hybridization, and Multicolor Bar Coding

R. Eils, S. Petersen, I. Petersen, 2000, Laboratory Investigation.

Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour.

C. Fauth, J. Hainfellner, H. Kehrer-Sawatzki, 2009, European journal of medical genetics.

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

C. Fauth, D. Meierhofer, J. Zschocke, 2011, American Journal of Human Genetics.

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

C. Fauth, H. Cavé, M. Tartaglia, 2020, European Journal of Human Genetics.

SYNE1-ataxia: Novel genotypic and phenotypic findings.

C. Fauth, G. Wenning, W. Nachbauer, 2019, Parkinsonism & related disorders.

neurocognitive profile Beuren syndrome − responsible for the Williams as the main genes GTF 2 IRD 1 and GTF 2 I Partial 7 q 11 . 23 deletions further implicate

C. Fauth, L. Pérez-Jurado, M. Campo, 2022 .

Seizure induction and magnetic brain stimulation after stroke

J. Zihl, B. Conrad, B. Meyer, 1992, The Lancet.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

C. Fauth, G. Utermann, D. Kotzot, 2005, American journal of medical genetics. Part A.

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22

C. Fauth, J. Zschocke, B. Simma, 2013, American journal of medical genetics. Part A.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Inherited ichthyoses/generalized Mendelian disorders of cornification

C. Fauth, M. Schmuth, A. Janecke, 2012, European Journal of Human Genetics.

Modification of risk for cancer as a coincidental finding in DNA array investigation

C. Fauth, K. Rostásy, K. Wimmer, 2013, Clinical genetics.

FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

C. Fauth, C. Giunta, M. Rohrbach, 2019 .

FKBP14‐related Ehlers‐Danlos syndrome: Expansion of the phenotype to include vascular complications

P. Byers, C. Fauth, Mitzi L. Murray, 2014, American Journal of Medical Genetics. Part A.

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

F. Muntoni, C. Fauth, K. Rostásy, 2012, American journal of human genetics.

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene

C. Fauth, K. Zerres, S. Rudnik-Schöneborn, 2005, European Journal of Human Genetics.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

ALG8-CDG: novel patients and review of the literature

C. Fauth, Michael Höck, D. Lefeber, 2015, Orphanet Journal of Rare Diseases.

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

C. Fauth, K. Wimmer, U. Lehmann, 2016, Familial Cancer.

Nuclear Organization of Mammalian Genomes

Thomas Cremer, Giorgio Bernardi, Daniele Zink, 1999, The Journal of cell biology.

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

C. Fauth, G. Utermann, M. Schmuth, 2007, European Journal of Human Genetics.

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome.

C. Fauth, G. Pinggera, P. Vogt, 2013, Fertility and sterility.

Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12).

C. Fauth, M. Speicher, A. Wirtz, 2000, American journal of medical genetics.

Nuclear Organization of Mammalian Genomes : Polar Chromosome Territories Build Up Functionally Distinct Higher Order Compartments

G. Bernardi, T. Cremer, D. Zink, 1999 .

New Developments in Multicolour Fluorescence in situ Hybridization

C. Fauth, M. Speicher, S. Langer, 2004 .

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27→qter

C. Fauth, M. Speicher, I. Rost, 2003, Journal of medical genetics.

Multicolor FISH in two and three dimensions for clastogenic analyses.

Michael R Speicher, C. Fauth, M. Speicher, 2002, Mutagenesis.

Classifying by colors: FISH-based genome analysis

C. Fauth, M. Speicher, M.R. Speicher, 2001, Cytogenetic and Genome Research.

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

C. Fauth, H. Fiegl, K. Wimmer, 2015, European Journal of Human Genetics.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement

N. Carter, H. Fiegler, B. Ng, 2006, Human Genetics.

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

A. Ferbert, U. Felbor, C. Fauth, 2014, Molecular genetics & genomic medicine.

A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue

C. Fauth, M. Kofler, M. Hecht, 2016, Neuropediatrics.

Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

C. Fauth, M. Speicher, P. Iwanowski, 2000, Clinical genetics.

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

C. Fauth, L. Pérez-Jurado, M. Campo, 2009, Journal of Medical Genetics.

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

C. Fauth, G. Utermann, J. Zschocke, 2013, European journal of medical genetics.

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysis

A. Huber, C. Fauth, L. Wu, 2010, Clinical genetics.

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

H. Prokisch, C. Fauth, T. Pippucci, 2018, Journal of Medical Genetics.

Order of genetic events is critical determinant of aberrations in chromosome count and structure

C. Fauth, M. Speicher, M. O'hare, 2004, Genes, chromosomes & cancer.

Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation

M R Speicher, N. Carter, H. Fiegler, 2004, Journal of Medical Genetics.

The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl.

C. Fauth, G. Kronberger, O. Rittinger, 2008, European journal of medical genetics.

Targeted inactivation of p53 in human cells does not result in aneuploidy.

K. Kinzler, B. Vogelstein, C. Fauth, 2002, Cancer research.

Pre‐ and postnatal findings in trisomy 17 mosaicism

C. Fauth, R. Pauli, A. Schinzel, 2006, American journal of medical genetics. Part A.

Additional dark G-band in the p-arm of chromosome 19 due to a paracentric inversion with a breakpoint in the pericentromeric heterochromatin.

C. Fauth, M. Speicher, T. Haaf, 2001, American journal of medical genetics.

Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3

A. Rump, C. Fauth, S. Tinschert, 2013, American journal of medical genetics. Part A.

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)

C. Fauth, G. Utermann, J. Zschocke, 2010, American journal of medical genetics. Part A.

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

V. Beneš, C. Fauth, Benjamin Raeder, 2013, European Journal of Human Genetics.

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman

C. Fauth, G. Utermann, M. Höckner, 2008, American journal of medical genetics. Part A.

Mutations in FKBP 14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis , Myopathy , and Hearing Loss

F. Muntoni, C. Fauth, K. Rostásy, 2022 .

AcroM fluorescent in situ hybridization analyses of marker chromosomes

M. Rocchi, C. Fauth, M. Speicher, 2001, Human Genetics.

A 1.1 Million Base Pair X-Chromosomal Deletion Covering the PDHA1 and CDKL5 Genes in a Female Patient with West Syndrome and Pyruvate Oxidation Deficiency

C. Fauth, J. Zschocke, W. Sperl, 2012, Neuropediatrics.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

A new strategy for the detection of subtelomeric rearrangements

R. Eils, K. Saracoglu, L. Kearney, 2001, Human Genetics.

An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.

S. Schuffenhauer, J. Azofeifa, C. Fauth, 2000, American journal of human genetics.

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Martin Fassnacht, Marta Barontini, Gabriela Sanso, 2011, Human mutation.

Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6

C. Fauth, A. Borkhardt, M. Kuhlen, 2018, European Journal of Human Genetics.

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype

C. Fauth, G. Utermann, J. Zschocke, 2012, American journal of medical genetics. Part A.

Analysis of human interphase chromosome territories in vivo

T. Cremer, D. Zink, E. Stelzer, 1998 .

Live-cell microscopy of single nuclear chromosomes and genome compartments: evaluation of labeling procedure and imaging conditions.

D. Zink, C. Fauth, 2001, Cytometry.

A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2

C. Marshall, R. Weksberg, C. Fauth, 2016, American journal of medical genetics. Part A.

First non‐mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

C. Fauth, M. Speicher, R. Schindler, 2004, American journal of medical genetics. Part A.

Multiplex-FISH for pre- and postnatal diagnostic applications.

M R Speicher, S. Schuffenhauer, T. Cremer, 1999, American journal of human genetics.

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

A. Green, C. Fauth, C. Kim, 2013, The Journal of pediatrics.

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.

C. Fauth, C. Lamina, J. Dobesberger, 2019, European journal of medical genetics.

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

C. Fauth, K. Rostásy, G. Utermann, 2014, Clinical genetics.

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

C. Fauth, C. Schwarzer, K. Rostásy, 2012, Annals of human genetics.

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

Zlatko Trajanoski, Stephan Pabinger, Christof von Kalle, 2012, American journal of human genetics.

Mitochondrial DNA mutation “m.3243A>G”—Heterogeneous clinical picture for cardiologists (“m.3243A>G”: A phenotypic chameleon)

C. Fauth, D. Karall, W. Sperl, 2018, Congenital heart disease.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Targeted Inactivation of p 53 in Human Cells Does Not Result in Aneuploidy 1

K. Kinzler, B. Vogelstein, C. Fauth, 2002 .

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.

C. Fauth, G. Pinggera, C. Sergi, 2008, Fertility and sterility.

Functional organisation of corticonuclear pathways to motoneurones of lower facial muscles in man

J. Rothwell, C. Fauth, K. Werhahn, 2004, Experimental Brain Research.

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas

U. Felbor, C. Fauth, K. Rostásy, 2015, Clinical Neurology and Neurosurgery.

MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy

B. Schlotter-Weigel, T. Strom, P. Bauer, 2018, Clinical genetics.

Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs

R. Hennekam, C. Fauth, S. Nampoothiri, 2011, American journal of medical genetics. Part A.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.

C. Fauth, G. Pinggera, C. Sergi, 2008, Fertility and sterility.

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

C. Fauth, D. Meierhofer, J. Zschocke, 2011, American journal of human genetics.

Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3

A. Rump, C. Fauth, S. Tinschert, 2013, American journal of medical genetics. Part A.

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27→qter

C. Fauth, M. Speicher, I. Rost, 2003, Journal of medical genetics.

Genotype-based databases for variants causing rare diseases.

C. Fauth, A. Deutschmann, J. Zschocke, 2014, Gene.

Blink reflex investigation using magnetic stimulation.

B. Conrad, B. Meyer, C. Fauth, 1994, European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery.