R. Kruse

发表

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Yang Liu, Sen Yang, Miao Sun, 2009, Nature Genetics.

Frequent 4‐bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients

M. Stolte, P. Propping, R. Kruse, 1999, Genes, chromosomes & cancer.

Birt-Hogg-Dubé syndrome: germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patient.

T. Sauerbruch, R. Kruse, A. Rütten, 2005, Acta dermato-venereologica.

A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome

P. Propping, R. Kruse, A. Rütten, 2004, Journal of Medical Genetics.

[Tuberous sclerosis: diagnostic criteria and new treatment approaches].

R. Kruse, J. Reifenberger, D. Bruch-Gerharz, 2008, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Selected variants of the steroid‐5‐alpha‐reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: No association with female pattern hair loss identified

M. Nöthen, T. Becker, R. Tazi-Ahnini, 2012, Experimental dermatology.

Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue

P. Propping, R. Kruse, W. Friedl, 1997, Human Genetics.

Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.

S. Cichon, M. Nöthen, Y. Wen, 2011, Journal of the American Academy of Dermatology.

Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

S. Cichon, M. Nöthen, C. Bodemer, 2009, Nature Genetics.

[Osteopathies in antiepileptic long-term therapy (preliminary report)].

R. Kruse, 1968, Monatsschrift fur Kinderheilkunde.

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata.

M. Nöthen, A. Tafazzoli, A. Christiano, 2017, The Journal of investigative dermatology.

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

S. Cichon, M. Rietschel, M. Nöthen, 1998, Human molecular genetics.

Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias.

P. Propping, M. Bisceglia, R. Kruse, 2003, The Journal of investigative dermatology.

Genetic variants in CTLA4 are strongly associated with alopecia areata.

M. Nöthen, T. Becker, C. Herold, 2011, The Journal of investigative dermatology.

Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposis.

T. Sauerbruch, P. Propping, M. Knapp, 2002, Pharmacogenetics.

Peutz‐Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene

M. Stolte, C. Jackisch, P. Propping, 1999, Human mutation.

Investigation of six novel susceptibility loci for male androgenetic alopecia in women with female pattern hair loss.

M. Nöthen, T. Becker, R. Tazi-Ahnini, 2013, Journal of dermatological science.

Immunochip-based analysis: high-density genotyping of immune-related loci sheds further light on the autoimmune genetic architecture of alopecia areata.

M. Nöthen, T. Becker, M. Knapp, 2015, The Journal of investigative dermatology.

Intolerance reactions due to the selective cyclooxygenase type II inhibitors rofecoxib and celecoxib. Results of oral provocation tests in patients with NSAID hypersensitivity.

R. Kruse, T. Ruzicka, M. Grewe, 2003, Acta dermato-venereologica.

Painful rash and swelling of the limbs after recurrent infections in a teenager: Polyarteritis nodosa

Matthias Schneider, R. Kruse, T. Niehues, 2006, Acta paediatrica.

Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

T. Becker, R. Kruse, R. Betz, 2011 .

Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP

I. Nimmrich, R. Kruse, W. Friedl, 1997, Human Genetics.

Microsatellite instability—a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer

T. Sauerbruch, P. Propping, R. Kruse, 1999, Gut.

Unilateral pseudogynecomastia: a novel work-related disease.

P. Dall, R. Kruse, T. Ruzicka, 2004, Annals of internal medicine.

MSH6 mutation in Muir–Torre syndrome: could this be a rare finding?

P. Propping, R. Buettner, N. Friedrichs, 2007, The British journal of dermatology.

A Novel Missense Mutation in the DNA Mismatch Repair Gene hMLH1 Present among East Asians but Not among Europeans

M. Nöthen, P. Propping, R. Kruse, 1998, Human Heredity.

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.

S. Cichon, T. Schulze, T. Wienker, 2005, American journal of human genetics.

Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study.

P. Propping, R. Kruse, H. Kutzner, 1999, The American Journal of dermatopathology.

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

M. Nöthen, G. Kirov, W. Peitsch, 2011, European Journal of Human Genetics.

Cytokeratin 18 expression in immature Sertoli cells: co-localization with interstitial lymphocytic infiltrates.

R. Kruse, T. Ruzicka, N. Neumann, 2009, Folia histochemica et cytobiologica.

Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.

P. Propping, M. Bisceglia, R. Kruse, 1998, American journal of human genetics.

[Exanthema in acute HIV disease].

R. Kruse, T. Ruzicka, J. Reifenberger, 2005, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Loss of DNA Mismatch Repair Proteins in Skin Tumors From Patients With Muir–Torre Syndrome and MSH2 or MLH1 Germline Mutations: Establishment of Immunohistochemical Analysis as a Screening Test

P. Propping, R. Kruse, T. Ruzicka, 2002, The American journal of surgical pathology.

DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention.

R. Kruse, T. Ruzicka, 2004, Trends in molecular medicine.

Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.

M. Nöthen, A. Tafazzoli, T. Becker, 2017, Acta dermato-venereologica.

Investigation of the HLA-DRB1 locus in alopecia areata.

M. Nöthen, P. Nürnberg, M. Nagy, 2006, European journal of dermatology : EJD.

Familial aggregation of alopecia areata.

M. Nöthen, R. Fimmers, T. Wienker, 2006, Journal of the American Academy of Dermatology.

Susceptibility variants for male-pattern baldness on chromosome 20p11

Thomas W. Mühleisen, S. Cichon, T. Mühleisen, 2008, Nature Genetics.

Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes

P. Propping, R. Kruse, R. Caspari, 1997 .

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Peter Nürnberg, Susanne Schoch, Christian Hafner, 2014, American journal of human genetics.

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

M. Nöthen, J. Wenzel, R. Kruse, 2006, American journal of human genetics.

Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.

J. Altmüller, R. Kruse, R. Betz, 2015, The Journal of investigative dermatology.

Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter's syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection.

M. Schmid, P. Propping, R. Kruse, 1998, Fertility and sterility.

Genetic Counseling in a Patient with XXY/XXXY/XY Mosaic Klinefelter’s Syndrome: Estimate of Sex Chromosome Aberrations in Sperm Before Intracytoplasmic Sperm Injection

M. Schmid, P. Propping, R. Kruse, 1998 .

Anti‐inflammatory and varicocele treatment in nonobstructive azoospermia

R. Kruse, H. Schuppe, T. Ruzicka, 2003, Andrologia.

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

M. Nöthen, H. Hennies, A. Fryer, 2013, American journal of human genetics.

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

S. Cichon, M. Nöthen, A. Hillmer, 2003, Nature Genetics.

Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2

M. Nöthen, S. Moebus, S. Heilmann-Heimbach, 2017, Experimental dermatology.

Thelalgia in man: successful treatment with botulinum toxin.

R. Kruse, T. Ruzicka, L. Rauch, 2006, Archives of Dermatology.

Identification of a keratin-associated protein with a putative role in vesicle transport.

M. Nöthen, J. Höhfeld, R. Kruse, 2007, European journal of cell biology.

Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss

M. Nöthen, T. Becker, R. Tazi-Ahnini, 2013, Archives of Dermatological Research.

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair

R. Kruse, R. Betz, S. Murugusundram, 2009, Archives of Dermatological Research.

Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26.

M. Nöthen, H. Hennies, A. Hillmer, 2008, American journal of human genetics.

"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.

P. Propping, M. Bisceglia, R. Kruse, 2001, The Journal of investigative dermatology.

Muir-Torre-Syndrom

R. Kruse, R. Bähr, J. Jonas, 2002, Der Chirurg.

Type 2 Segmental Manifestation of Cutaneous Leiomyomatosis in Four Unrelated Women with Additional Uterine Leiomyomas (Reed’s Syndrome)

R. Kruse, T. Ruzicka, S. Hanneken, 2005, Dermatology.

Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss

M. Nöthen, T. Becker, R. Tazi-Ahnini, 2014, Archives of Dermatological Research.

Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease.

M. Nöthen, T. Wienker, A. Hillmer, 2007, The Journal of investigative dermatology.

Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.

P. Propping, R. Kruse, R. Caspari, 1997, Human mutation.

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

M. Daly, Annette Lee, P. Gregersen, 2015, Nature Communications.

Richner–Hanhart Syndrome Detected by Expanded Newborn Screening

E. Mayatepek, R. Kruse, R. Betz, 2008, Pediatric dermatology.

Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance.

M. Nöthen, T. Becker, C. Herold, 2012, The Journal of investigative dermatology.

Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?

P. Propping, R. Kruse, T. Ruzicka, 1996, Human Genetics.

Muir‐Torre syndrome: clinical features and molecular genetic analysis

P. Propping, R. Kruse, T. Ruzicka, 1997, The British journal of dermatology.

A novel germline mutation in the hMLH1 DNA mismatch repair gene in a patient with an isolated cystic sebaceous tumor.

P. Propping, R. Kruse, H. Günzl, 1999, The Journal of investigative dermatology.

Tuberculosis cutis colliquativa

H. Korkmaz, R. Kruse, J. Reifenberger, 2009, Der Hautarzt.

Cancer-Associated Genodermatoses

R. Kruse, M. Berneburg, M. Ettinger, 2020, Braun-Falco´s Dermatology.

Waardenburg Syndrome Type I with Heterochromia Iridis and Circumscribed Hypopigmentation of the Skin

E. Mayatepek, R. Kruse, T. Ruzicka, 2009, Pediatric dermatology.

Creutzfeldt-Jakob disease mortality in Canada, 1998 to 2013.

G. Jansen, M. Coulthart, R. Kruse, 2015, Canada communicable disease report = Releve des maladies transmissibles au Canada.

Genome-wide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR 2 Running Head : Copy number variants in alopecia areata

Lynn, M. Nöthen, S. Moebus, 2016 .

Erratum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (Nature Genetics (2009) 41 (228-233))

S. Cichon, M. Nöthen, C. Bodemer, 2009 .

TO JMG A genotype-phenotype correlation in HNPCC : strong predominance of msh 2 mutations in 41 patients with Muir-Torre syndrome

P. Propping, R. Kruse, T. Ruzicka, 2004 .

A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family

S. Cichon, M. Nöthen, A. Hillmer, 2000, The British journal of dermatology.