Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAPmutation and review of the literature

Autor: Budisteanu, M, Bögershausen, N, Papuc, SM, Moosa, S, Thoenes, M, Riga, D, Arghir, A, Wollnik, B

Publikováno v: Balkan Journal of Medical Genetics; October 2018, Vol. 21 Issue: 1 p83-86, 4p

P236 – 1972 Angelman syndrome – an update of our clinical experience

Autor: Barca, D, Arghir, A, Papuc, SM, Tutulan-Cunita, A, Iliescu, C, Tarta-Arsene, O, Minciu, I, Craiu, D, Duca, D, Budisteanu, M

Publikováno v: In European Journal of Paediatric Neurology September 2013 17 Supplement 1:S118-S118

A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.

Autor: Papuc SM; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Bucharest, 050096, Romania., Glangher A; Psychiatry Research Laboratory, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, 041914, Romania., Erbescu A; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Bucharest, 050096, Romania., Arsene OT; Pediatric Neurology Department, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, 041914, Romania., Arghir A; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Bucharest, 050096, Romania. aura_arghir@yahoo.com., Budisteanu M; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Bucharest, 050096, Romania.; Psychiatry Research Laboratory, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, 041914, Romania.; Faculty of Medicine, Department of Genetics, Titu Maiorescu University, Bucharest, 031593, Romania.

Publikováno v: Italian journal of pediatrics [Ital J Pediatr] 2024 Sep 27; Vol. 50 (1), pp. 193. Date of Electronic Publication: 2024 Sep 27.

Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study.

Autor: Guillon Q; Université Toulouse Jean Jaurès, France., Baduel S; Université Toulouse Jean Jaurès, France., Bejarano-Martín Á; Universidad de Salamanca, Spain., Canal-Bedia R; Universidad de Salamanca, Spain., MagÁn-Maganto M; Universidad de Salamanca, Spain., FernÁndez-Álvarez C; Universidad de Salamanca, Spain., Martín-Cilleros MV; Universidad de Salamanca, Spain., SÁnchez-Gómez MC; Universidad de Salamanca, Spain., García-Primo P; Johannes Kepler University, Austria., Rose-Sweeney M; Dublin City University, Ireland., Boilson A; Dublin City University, Ireland., LinertovÁ R; Canary Island Foundation for Health Research (Fundación Canaria de Investigación Sanitaria/FUNCANIS) and Health Service Research Network for Chronic Diseases (Red de Investigación en Servicios de Salud en Enfermedades Crónicas/REDISSEC), Spain., Roeyers H; Ghent University, Belgium., Van der Paelt S; Ghent University, Belgium., Schendel D; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark.; Aarhus University, Denmark.; Drexel University, USA., Warberg CK; Aarhus University, Denmark., Cramer S; Aarhus University, Denmark., Narzisi A; IRCCS Stella Maris Foundation, Italy., Muratori F; IRCCS Stella Maris Foundation, Italy.; University of Pisa, Italy., Scattoni ML; Istituto Superiore di Sanità, Italy., Moilanen I; University of Oulu, Finland.; Oulu University Hospital, Finland., Yliherva A; University of Tampere, Finland., Saemundsen E; States Diagnostic and Counselling Centre, Iceland., Jonsdottir SL; States Diagnostic and Counselling Centre, Iceland., Efrim-Budisteanu M; Victor Babes - National Institute of Pathology, Romania., Arghir A; Victor Babes - National Institute of Pathology, Romania., Papuc SM; Victor Babes - National Institute of Pathology, Romania., Vicente A; Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal., Rasga C; Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal., Xenia Kafka J; Medical University of Vienna, Austria., Poustka L; University Medical Centre Göttingen, Germany., Kothgassner OD; Medical University of Vienna, Austria., Kawa R; University of Warsaw, Poland., Pisula E; University of Warsaw, Poland., Sellers T; National Autistic Society (NAS), UK., Posada de la Paz M; Carlos III Institute of Health, Spain., Rogé B; Université Toulouse Jean Jaurès, France.

Publikováno v: Autism : the international journal of research and practice [Autism] 2022 Nov; Vol. 26 (8), pp. 2136-2150. Date of Electronic Publication: 2022 Mar 09.

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.

Autor: Budisteanu M; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania.; Department of Medical Genetics, Titu Maiorescu University, 040051 Bucharest, Romania., Papuc SM; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania., Erbescu A; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania., Iliescu C; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania.; Pediatric Neurology Discipline, Clinical Neurosciences Department, 'Carol Davila' University of Medicine and Pharmacy, 050455 Bucharest, Romania., Dobre M; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania., Barca D; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania.; Pediatric Neurology Discipline, Clinical Neurosciences Department, 'Carol Davila' University of Medicine and Pharmacy, 050455 Bucharest, Romania., Tarta-Arsene O; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania.; Pediatric Neurology Discipline, Clinical Neurosciences Department, 'Carol Davila' University of Medicine and Pharmacy, 050455 Bucharest, Romania., Motoescu C; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania.; Pediatric Neurology Discipline, Clinical Neurosciences Department, 'Carol Davila' University of Medicine and Pharmacy, 050455 Bucharest, Romania., Dica A; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania., Sandu C; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania.; Pediatric Neurology Discipline, Clinical Neurosciences Department, 'Carol Davila' University of Medicine and Pharmacy, 050455 Bucharest, Romania., Anghelescu C; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania., Craiu D; Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, 041914 Bucharest, Romania.; Pediatric Neurology Discipline, Clinical Neurosciences Department, 'Carol Davila' University of Medicine and Pharmacy, 050455 Bucharest, Romania., Arghir A; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.

Publikováno v: Experimental and therapeutic medicine [Exp Ther Med] 2022 Jan; Vol. 23 (1), pp. 101. Date of Electronic Publication: 2021 Dec 01.