Prof. Dr. M.H. Breuning

Klinisch geneticus

Vakgebied(en)

  • Mentale retardatie, aangeboren afwijkingen, erfelijke nierziekten, erfelijke hartziekten, erfelijke oogziekten
  • stoornissen in de groei
  • erfelijkheids advies
  • prenatale screening en diagnostiek

Introductie

Klinisch geneticus


Onderzoeksprofiel

Het doel van mijn onderzoek is de biomedische technieken die zich zeer snel ontwikkelen zo snel en zo goed mogelijk toe te passen bij mensen met medische problemen om diagnostiek en behandeling te verbeteren.


Geselecteerde publicaties

Helderman-van den Enden AT, van den Bergen JC, Breuning MH, Verschuuren JJ,Tibben A, Bakker E, Ginjaar HB. Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level? Clin Genet. 2011 Mar;79(3):236-42.  

Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH,Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, ToralJF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan;43(1):20-2.  

Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene Am J Hum Genet. 2010 Jul 9;87(1):146-53.   

Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat. 2010 Oct;31(10):1125-33.  

Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E, Ruivenkamp CA. A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first. Eur J Hum Genet. 2009 Nov;17(11):1394-402

 


Wetenschappelijk profiel

Education 

1979 Artsexamen, M.D.1984

Promotie, Ph.D.: “Genetics of human CML targets”

1991 Clinical geneticist 

Previous and current employment

1975 - 1979: candidate assistant Laboratory for Human Biology and Genetics, University of Amsterdam (Head: Prof.Dr. A. De Froe) 

1978: doctoral assistant Department of Immunohaematology Central Laboratory of the Bloodtransfusion Service at Amsterdam (Head: Prof.Dr. C.P. Engelfriet) 

1979 - 1983: Scientific staff member Department of Immunohaematology Central Laboratory of the Bloodtransfusion Service at Amsterdam 

1983 - 1984: Medical doctor Department of Clinical Genetics of the Department of Human Genetics of the State University Groningen (Head: Prof.Dr. G.J.P.A. Anders) 

1984 - 1989: Scientific staff member Department of Human Genetics State University Leiden (Head: Prof.Dr. P.L. Pearson) 

1989 - 1991: resident clinical geneticist at the Department of Clinical Genetics, Erasmus University Rotterdam (Head: Prof.Dr. H. Galjaard, tutor: Prof.Dr. M.F. Niermeijer), also scientific staff member Department of Human Genetics State University Leiden 

1991 - 1998: halftime clinical geneticist at the Department of Clinical Genetics, Erasmus University Rotterdam (Head: Prof.Dr. H. Galjaard), also scientific staff member (from May 1, 1995 associate professor) Department of Human Genetics State University Leiden 

1998 to the present: Full professor of Clinical Genetics at Leiden University, medical director of the Department of Clinical Genetics which is part of the Center forHuman and Clinical Genetics at the Leiden University Medical Center (LUMC).  


Contactgegevens

Leids Universitair Medisch Centrum
Gebouw 1
Kamer K-05-011  

Albinusdreef 2
2333 ZA Leiden
Tel: +31 (0)71 526 6090

Postzone K-5-R
Postbus 9600
2300 RC Leiden

E-mail: m.h.breuning@lumc.nl