Maria Puiu

MD, University of Medicine and Pharmacy, Timisoara, 1985PhD, University of Medicine and Pharmacy, Bucharest (Populations Genetics), 1994Specialist Pediatric, Clinical Pediatrics, Timisoara, 1995Specialist Medical Genetics, Gr. Alexandrescu Hospital, Bucharest, 2000Post Doc Fellow, Clinical genetics and prenatal cytogenetics, Hospices Civiles de Lyon, France, 2002-2003Experts for Research Activities (ARACIS, PNCD, CNCSIS, MEC)Vicepresident of Romanian National Organization of Rare Diseases (RONARD), 2007President of Romanian Society of Medical Genetics

Universitatea de Medicina si Farmacie V. Babes, Timisoara, .

E-mail: trimite un mesaj.

Nascut(a) in: 1959

Interese: Genetica medicala, Dismorfologie, Asociatiile de boli rare, Epidemiologie genetica, Genetica populatiilor, Boli rare, Planul National al bolilor rare

Detalii:
MD, Universitatea de Medicina si Farmacie, Timisoara, 1985
PhD, Universitatea de Medicina si Farmacie, Bucuresti, (Genetica populatiilor consangvinizate), 1994
Specialist Pediatrie, Clinica Pediatrica, Timisoara, 1995
Specialist Genetica Medicala, Spitalul Gr. Alexandrescu, Bucuresti, 2000
Specializare postdoctorala, Genetica clinica si diagnostic citogenetic prenatal, Hospices Civiles de Lyon, France, 2002-2003
Evaluator ARACIS, PNCD, CNCSIS, MEC
Membru fondator si vicepresedinte al Aliantei Nationale a Bolilor Rare Romania (ANBRaRo), 2007
Medic primar Pediatrie, Medic primar Genetica Medicala
Presedinte al Societatii Romane de Genetica medicala

Details:
MD, University of Medicine and Pharmacy, Timisoara, 1985
PhD, University of Medicine and Pharmacy, Bucharest (Populations Genetics), 1994
Specialist Pediatric, Clinical Pediatrics, Timisoara, 1995
Specialist Medical Genetics, Gr. Alexandrescu Hospital, Bucharest, 2000
Post Doc Fellow, Clinical genetics and prenatal cytogenetics, Hospices Civiles de Lyon, France, 2002-2003
Experts for Research Activities (ARACIS, PNCD, CNCSIS, MEC)
Vicepresident of Romanian National Organization of Rare Diseases (RONARD), 2007
President of Romanian Society of Medical Genetics

Publicații selectate:

* C. Bortun, L. Ardelean, M. Puiu, Oro-dental phenotypic spectrum of patients with PWS, European Journal of Human Genetics, Vol 17 Supp 2, 2009.

* T. Marcovici, I. Sabau, I. Simedrea, O. Marginean, O. Belei, M.Puiu, BPES Syndrome Ohdo type in child - case report, Nature Publishing Group, European Journal of Human Genetics, vol. 17 Supp 2, 2009.

* M. Puiu, G. Anton, D. Dan, C. Popoiu, C. Rusu, V. Pop, C. Badiu, M.Stoian, N. Cucu, Correlation of clinic, genetic and epigenetic aspects implicated in the etiology of Prader Willi/Angelman syndromes: model of multidisciplinary approach for rare diseases in Romania, Nature Publishing Group, European Journal of Human Genetics, Vol. 17 Supp 2, 2009.

* M. Gafencu, G. Doros, M. Puiu, I. Micle, A. Popoiu, M. Serban, Laurence-Moon-Bardet-Biedl syndrome- case presentation, European Journal of Human Genetics, 2005.

* G. . Doros, M. Puiu, A. Popoiu, M. Gafencu, M. Serban, Particular features of the Congenital Heart Defect in Children over more than a decade, European Journal of Human Genetics, 2005.

* T. Marcovici, I. Sabau, I. Simedrea, M. Puiu, Deformities of the skull in children: clinical markers of the polymalformative syndromes, European Journal of Human Genetics, 2005.

* M. Puiu, S. Dragan, Clinic and genetic heterogeneity in Ehlers-Danlos syndrome, European Journal of Human Genetics, 2005.

* D. Vasilie, M. Puiu, C. S. Pop, Issues concerning familial inheritance of Hipospadias, European Journal of Human Genetics, 2005.

* D. Stoicanescu, C. Gug, M. Mihaescu, M. Puiu, S. Farcas, V. Belengeanu, Results of the Medical Genetics services in the South-Western part of Romania, European Journal of Human Genetics, 2005.

* E. S. Boia, M. Boia, V. Botiu, M. J. Puiu, C. Budisan, D. Iacob, A. Manea, F. Isfan, E. Nedelea, C. Cojocaru, S. Raicu, Clinical and evolutional remarks on the congenital hydrocephaly, European Journal of Human Genetics, 2004.

* M. Boia, V. Botiu, E. Boia, M. J. Puiu, C. Budisan, A. Manea, E. Nedelea, F. Isfan, C. Cojocaru, S. Raicu, Lobar Holoprosencephaly - clinical and evolutional aspects, European Journal of Human Genetics, 2004.

* S. Dragan, M. Puiu, D. Stoicanescu, D. Mihailov, Identification of People with an Increased Risk of Cancer, Nature Publishing Groupe, European Journal of Human Genetics, 2004.

* M. Gafencu, G. Doros, M. Puiu, D. Dan, A. Balint, The role of volunteers in activities supporting Rare Diseases Alliance, nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* M. Puiu, A. Tarniceru, D. Dan, The role of Patient’s Organizations in establishing some strategies in the healthcare system concerning rare diseases, nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* A. Sireteanu, E. Neagu, G. Schobers, V. Bica, C. Skrypnyk, M. Puiu, V.Cret, L. Barbarii, C. Rusu, Diagnosis optimization by using MLPA in the investigation protocol in mentally retarded children - Romanian experience, nature publishing journal, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* A. Tarniceru, M. Puiu, M. Serban;, A new approach concerning the registries for rare diseases, nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* M. Mihailov, M. Serban, D. Savescu, S. Arghirescu, C. Petrescu, M. Puiu;, Risk Factors of Inhibitors Development in Haemophilia Patients, nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* R. O. Dumache, B. G. Bumbacila, A. Anghel, F. Miclea, M. Puiu, Alpha-methylacyl-CoA racemase, a novel specific biomarker for prostate cancer, nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* M. Puiu, M. Serban, N. Cucu, G. Anton, D. Dan, C. Popoiu, C. Rusu, V.Pop, C. Badiu, New hypotheses in PWS/AS research: a multidisciplinary approach of rare diseases in Romania, nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* G. S. Doros, M. Gafencu, A. Popoiu, B. Zoica, J. Puiu;, Supravalvular aortic stenosis and Williams Syndrome, nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* T. Marcovici, I. Sabau, I. Simedrea, M. Mihaescu, M. Puiu, R. Tudorache;, Wolf-Hirschorn syndrome - case report, nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, 2008.

* M. Puiu, D. Dan, C. Skrypnyk, Collaborative Experience of the Romanian Prader Willi Association with Medical Specialists, nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, 2007.

* M. Puiu, S. Arghirescu, M. Bataneant, R. Firescu, L. Stana, M. Baica, M. Mihailov,M. Serban;, Cytogenetics, immunophenotype and biomolecular parameters-particularities in acute lymphoblastic leukemia, nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, 2007.

* M. Bataneant, S. Arghirescu, C. Petrescu, E. Boeriu, M. Puiu, I. Ferencs, M.Serban, Genetic disorders related neoplasia in childhood, nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, 2007.

* T. Marcovici, I. Sabau, I. Simedrea, M. Puiu, P. Lesovici, E. Gamaniuc;, Williams Syndrome in young child - case report, nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, 2007.

* G. S. Doros, B. S. Zoica, M. Bataneant, M. Serban, M. Gafencu, O. C.Ciocarlie, J. Puiu;, Severe kaposiform hemangioendothelioma associated with Kasabach-Merritt Syndrome - genes need to be identified, nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, 2007.

* C. Rusu, M. Bembea, C. Skrypnyk, M. Volosciuc, A. Siretean, E. Tomescu, M. Puiu, L. Barbarii;, Use of MLPA testing in subtelomeric rearrangements detection, nature publishing group, European journal of human genetics, Volume 15 Supplement 1, 2007.

* M. Mihailov, M. Serban, S. Arghirescu, M. Puiu;, Psychological manifestations in Romanian haemophilics, nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, 2007.

* M. Gafencu, G. Doros, R. Costa, M. Puiu, M. Serban;, Female monozygotic twins with Familial juvenile nephronophthisis - a case report, nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, 2007.

* M. Puiu, M. Gafencu, G. Doros, D. Mihailov, D. Muntean;, Genetics Education- experience in a genetic service, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* M. M. Gafencu, G. S. Doros, M. Puiu, V. Stan, B. Zoica, M. Serban;, The role of team work in social reinsertion for Down syndrome children, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* C. Bortun, M. Puiu, L. Sandu, S. Talpos;, The importance of the dental exam for identification and diagnosis of genetic diseases, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* A. Radulescu, M. Puiu, D. Vasilie, O. Adam, V. David;, BMP4 expression and it's role in the rib cage development, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* D. Mihailov, M. Serban, M. Puiu, S. Arghirescu, W. Schramm;, Neurological Sequels in Haemophilia Patients, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* G. S. Doros, M. Gafencu, M. J. Puiu, B. S. Zoica, A. L. Oprisoni;, Diagnostic issues in patients with oro-facial clefts, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* T. Marcovici, I. Sabau, I. Simedrea, M. Puiu, E. Gamaniuc;, Nevus of Ota associated with multiple Mongolian spots in infant - case report, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* V. Botiu, M. Boia, E. Boia, C. Ilie, M. Puiu, D. Iacob, A. Manea, D. Mihut;, Congenital hydrocephaly-ultrasound diagnosis, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* M. Boia, V. Botiu, E. Boia, M. Puiu, D. Iacob, A. Manea, D. Mihut;, Lobar Holoprosencephaly - positive diagnosis, nature publishing group, European journal of human genetics, Volume 14 Supplement 1, 2006.

* V. Botiu, D. Iacob, M. Boia, M. Puiu, R. Iacob, A. Manea;, Congenital malformation - a risk factor for infectious pathology, nature publishing group, European journal of human genetics, Volume 14 Supplement 1, 2006.

* V. David, A. Radulescu, M. C. Popoiu, M. Puiu, E. S. Boia, O. Adam, R.Iacob, The presence of genetic disorders associated chest wall malformations, nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, 2006.

* M. Puiu, S. Arghirescu, M. Bataneant, R. Firescu, L. Stana, M. Baica, M. Mihailov, M. Serban, Cytogenetics, immunophenotype and biomolecular parameters-particularities in acute lymphoblastic leukemia, Nature Publishing Group, European Journal of Human Genetics, vol. 15, supplement 1, 2007.

* M. Puiu, D. Dan, C. Skrypnyk, Collaborative Experience of the Romanian Prader Willi Association with Medical Specialists, Nature Publishing Group, European Journal of Human Genetics, 15, supplement 1, 2007.

* Cristina Maria Bortun, Liliana Sandu, Maria Puiu, Serban Talpos, The importance of the dental exam for identification and diagnosis of genetic diseases, Int Poster J Dent Oral Med, Vol 9 No 03, Poster 375, 2007.

* M. Puiu, M. Gafencu, G. Doros, D. Mihailov, D. Muntean, Genetics Education- experience in a genetic service, Nature Publishing Group, European Journal of Human Genetics, 2006.

* Bosun, I., Puiu, M,, Genetic studies in retinoblastoma, PMID: 10418625 [PubMed - indexed for MEDLINE], Oftalmologia, 45(4), 1998.