Publications by authors named "Peter Burfeind"

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Loss-of-function variants in cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Peter Burfeind

J Med Genet· June 2022

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Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Ipek Ilgin Gönenc, Nursel H Elcioglu, Carolina Martinez Grijalva, Seda Aras, Nadine Großmann, Peter Burfeind

Clin Genet· May 2022

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Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Andrea Gangfuß, Gökhan Yigit, Janine Altmüller, Peter Nürnberg, Johanna Christina Czeschik, Peter Burfeind

Am J Med Genet A· April 2021

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Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Mythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, Susanne Morlot, Gökhan Yigit, Peter Burfeind

Hum Genet· November 2020

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A Novel Mutation in Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Christiane M Neuhofer, Rudolf Funke, Bernd Wilken, Alexej Knaus, Janine Altmüller, Peter Burfeind

Mol Syndromol· February 2020

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Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.
Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli, Peter Burfeind

Mol Cytogenet· December 2018

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Testosterone metabolites inhibit proliferation of castration- and therapy-resistant prostate cancer.
Felix Bremmer, Hubertus Jarry, Valerie Unterkircher, Silke Kaulfuss, Peter Burfeind

Oncotarget· March 2018

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Simultaneous inhibition of IGF1R and EGFR enhances the efficacy of standard treatment for colorectal cancer by the impairment of DNA repair and the induction of cell death.
Rabea Oberthür, Henning Seemann, Julia Gehrig, Margret Rave-Fränk, Felix Bremmer, Peter Burfeind

Cancer Lett· October 2017

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Prospects of estrogen receptor β activation in the treatment of castration-resistant prostate cancer.
Julia Gehrig, Silke Kaulfuß, Hubertus Jarry, Felix Bremmer, Mark Stettner, Peter Burfeind

Oncotarget· May 2017

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Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Joanna Jakubiczka-Smorag, Jose Angel Santamaria-Araujo, Imke Metz, Avadh Kumar, Samy Hakroush, Peter Burfeind

Hum Genet· July 2016

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Prognostic value of CXCL12 and CXCR4 in inoperable head and neck squamous cell carcinoma.
Margret Rave-Fränk, Narges Tehrany, Julia Kitz, Martin Leu, Hanne Elisabeth Weber, Peter Burfeind

Strahlenther Onkol· January 2016

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Role of N-cadherin in proliferation, migration, and invasion of germ cell tumours.
Felix Bremmer, Simon Schallenberg, Hubertus Jarry, Stefan Küffer, Silke Kaulfuss, Peter Burfeind

Oncotarget· October 2015

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High-grade acute organ toxicity and p16(INK4A) expression as positive prognostic factors in primary radio(chemo)therapy for patients with head and neck squamous cell carcinoma.
Narges Tehrany, Julia Kitz, Margret Rave-Fränk, Stephan Lorenzen, Li Li, Peter Burfeind

Strahlenther Onkol· July 2015

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Leupaxin is expressed in mammary carcinoma and acts as a transcriptional activator of the estrogen receptor α.
Silke Kaulfuss, Anna-Maria Herr, Anja Büchner, Bernhard Hemmerlein, Andreas R Günthert, Peter Burfeind

Int J Oncol· July 2015

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Leupaxin stimulates adhesion and migration of prostate cancer cells through modulation of the phosphorylation status of the actin-binding protein caldesmon.
Sascha Dierks, Sandra von Hardenberg, Thomas Schmidt, Felix Bremmer, Peter Burfeind

Oncotarget· May 2015

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Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
Eva Maria Christina Schwaibold, Mateja Smogavec, Elke Hobbiebrunken, Lorenz Winter, Barbara Zoll, Peter Burfeind

Mol Cytogenet· October 2014

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Increased microtubule assembly rates influence chromosomal instability in colorectal cancer cells.
Norman Ertych, Ailine Stolz, Albrecht Stenzinger, Wilko Weichert, Silke Kaulfuß, Peter Burfeind

Nat Cell Biol· August 2014

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De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.
Eva Maria Christina Schwaibold, Iris Bartels, Helmut Küster, Michael Lorenz, Peter Burfeind

Mol Cytogenet· January 2014

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A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
Eva Maria Christina Schwaibold, Barbara Zoll, Peter Burfeind, Elke Hobbiebrunken, Bernd Wilken

Am J Med Genet A· October 2013

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Blockade of the PDGFR family together with SRC leads to diminished proliferation of colorectal cancer cells.
Silke Kaulfuß, Henning Seemann, Rovena Kampe, Julia Meyer, Ralf Dressel, Peter Burfeind

Oncotarget· July 2013

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Valproic acid inhibits the proliferation of cancer cells by re-expressing cyclin D2.
Daria Witt, Peter Burfeind, Sandra von Hardenberg, Lennart Opitz, Gabriela Salinas-Riester

Carcinogenesis· May 2013

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Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
Silke Pauli, Thomas Schmidt, Rudolf Funke, Barbara Zoll, Peter Burfeind

Eur J Med Genet· November 2012

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N-cadherin expression in malignant germ cell tumours of the testis.
Felix Bremmer, Bernhard Hemmerlein, Arne Strauss, Peter Burfeind, Paul Thelen

BMC Clin Pathol· October 2012

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Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
Silke Pauli, Doris Steinemann, Kai Dittmann, Jürgen Wienands, Moneef Shoukier, Peter Burfeind

Am J Med Genet A· March 2012

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A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.
Moneef Shoukier, Julia Schröder, Barbara Zoll, Peter Burfeind, Clemens Freiberg

Am J Med Genet A· February 2012

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