Publications by authors named "Manuela Germeshausen"

36Publications

CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by mutations - Heterogeneity of a monogenic disorder - Comprehensive analysis of 56 patients.

Haematologica 2020 Jul 23. Epub 2020 Jul 23.

Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany

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http://dx.doi.org/10.3324/haematol.2020.257972DOI Listing
July 2020

Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases.

Eur J Med Genet 2018 Nov 13;61(11):715-722. Epub 2018 Mar 13.

University of Pavia, Pavia, Italy; IRCCS Policlinico San Matteo Foundation, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.014DOI Listing
November 2018

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Blood 2016 06 15;127(23):2791-803. Epub 2016 Apr 15.

Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;

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http://dx.doi.org/10.1182/blood-2015-12-688267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016734PMC
June 2016

Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias.

Haematologica 2015 Sep 24;100(9):e341-4. Epub 2015 Apr 24.

Dept. of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.3324/haematol.2015.125963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800683PMC
September 2015

A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.

Eur J Haematol 2015 Jan 13;94(1):79-82. Epub 2014 May 13.

Department of Pediatric Allergy and Immunology, Faculty of Medicine, Mersin University, Mersin, Turkey.

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http://doi.wiley.com/10.1111/ejh.12349
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http://dx.doi.org/10.1111/ejh.12349DOI Listing
January 2015

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.

Pediatr Blood Cancer 2013 Sep 26;60(9):E94-6. Epub 2013 Apr 26.

Imperial College School of Medicine, London, UK.

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http://dx.doi.org/10.1002/pbc.24566DOI Listing
September 2013

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Hum Mutat 2013 Jun 2;34(6):905-14. Epub 2013 Apr 2.

Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1002/humu.22308DOI Listing
June 2013

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.

J Pediatr Hematol Oncol 2013 Mar;35(2):e81-3

Department of Pediatric Immunology, University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1097/MPH.0b013e3182679000DOI Listing
March 2013

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.

Semin Thromb Hemost 2011 Sep 18;37(6):673-81. Epub 2011 Nov 18.

Department of Pediatric Hematology and Oncology/Molecular Hematopoiesis, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1055/s-0031-1291377DOI Listing
September 2011

Digenic mutations in severe congenital neutropenia.

Haematologica 2010 Jul 10;95(7):1207-10. Epub 2010 Mar 10.

Department of Pediatric Hematology and Oncology/Molecular Hematopoiesis, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, D-30625 Hannover, Germany.

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http://dx.doi.org/10.3324/haematol.2009.017665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895047PMC
July 2010

Kostmann disease with developmental delay in three patients.

Eur J Pediatr 2010 Jun 23;169(6):759-62. Epub 2010 Feb 23.

Dr. Sami Ulus Children's Health and Diseases Training and Research Center, 06080 Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-010-1151-5DOI Listing
June 2010

Eponym. Kostmann disease.

Eur J Pediatr 2010 Jun 18;169(6):657-60. Epub 2010 Feb 18.

Dr. Sami Ulus Children's Health and Diseases Training and Research Center, 06080 Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-010-1149-zDOI Listing
June 2010

Acute lymphoblastic leukemia following severe congenital neutropenia or de novo ALL?

Leuk Res 2009 Sep 26;33(9):e139-42. Epub 2009 Apr 26.

Division of Pediatric Oncology, Department of Pediatrics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.leukres.2009.03.039DOI Listing
September 2009

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Br J Haematol 2009 Jun 21;146(1):3-16. Epub 2009 Apr 21.

Department of Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1111/j.1365-2141.2009.07706.xDOI Listing
June 2009

Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.

Br J Haematol 2009 Feb 10;144(4):459-67. Epub 2008 Dec 10.

Department of Paediatric Haematology/Oncology, Medical University Hannover, Hannover, Germany.

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http://dx.doi.org/10.1111/j.1365-2141.2008.07425.xDOI Listing
February 2009

In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia.

Blood 2009 Jan 19;113(3):668-70. Epub 2008 Nov 19.

Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1182/blood-2008-09-178087DOI Listing
January 2009

Unrelated cord blood transplantation in children with severe congenital neutropenia.

Pediatr Transplant 2009 Sep 26;13(6):777-81. Epub 2008 Sep 26.

Department of Pediatric Hematology-Oncology, Akdeniz University, School of Medicine, Antalya, Turkey.

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http://doi.wiley.com/10.1111/j.1399-3046.2008.01048.x
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http://dx.doi.org/10.1111/j.1399-3046.2008.01048.xDOI Listing
September 2009

G-CSF receptor mutations in patients with congenital neutropenia.

Curr Opin Hematol 2008 Jul;15(4):332-7

Department of Pediatric Hematology/Oncology, Medical University Hannover, Hannover, Germany.

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http://dx.doi.org/10.1097/MOH.0b013e328303b9f6DOI Listing
July 2008

The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia.

J Clin Immunol 2007 Sep 21;27(5):525-33. Epub 2007 Jun 21.

Immunology, Asthma and Allergy Research Institute, Department of Allergy and Clinical Immunology of Children Medical Center, Medical Sciences/University of Tehran, Tehran 14194, Iran.

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http://dx.doi.org/10.1007/s10875-007-9106-yDOI Listing
September 2007

Severe congenital neutropenia: inheritance and pathophysiology.

Curr Opin Hematol 2007 Jan;14(1):22-8

Department of Pediatric Hematology/Oncology, Medical University Hannover, Hannover, Germany.

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http://dx.doi.org/10.1097/00062752-200701000-00006DOI Listing
January 2007

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.

Blood 2007 Jan 19;109(1):93-9. Epub 2006 Sep 19.

Department of Pediatric Hematology and Oncology, Hannover Medical School, Germany.

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http://dx.doi.org/10.1182/blood-2006-02-004275DOI Listing
January 2007

Congenital dysgranulopoietic neutropenia.

Pediatr Blood Cancer 2008 Jan;50(1):115-9

Unit of Pediatric Hematology, Ankara Oncology Hospital, Demetevler, Ankara, Türkiye.

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http://dx.doi.org/10.1002/pbc.20877DOI Listing
January 2008

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.

Blood 2006 Jul 21;108(2):493-500. Epub 2006 Mar 21.

Institute of Cell and Molecular Pathology, the Institute of Virology, the Department of Pediatric Hematology and Oncology, Hannover Medical School, Germany.

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http://dx.doi.org/10.1182/blood-2005-11-4689DOI Listing
July 2006

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

Hum Mutat 2006 Mar;27(3):296

Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1002/humu.9415DOI Listing
March 2006

Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients.

Br J Haematol 2005 Dec;131(5):636-44

Department of Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany.

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http://doi.wiley.com/10.1111/j.1365-2141.2005.05819.x
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http://dx.doi.org/10.1111/j.1365-2141.2005.05819.xDOI Listing
December 2005

Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7.

Pediatr Blood Cancer 2005 Aug;45(2):212-6

Marrow Failure and Myelodysplasia Programme, and Blood and Marrow Transplantation Section, Division of Haematology and Oncology, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/pbc.20332DOI Listing
August 2005