The Many Faces of Oral-Facial-Digital Syndrome

Autor: Sukarova-Angelovska E, Angelkova N, Palcevska-Kocevska S, Kocova M

Publikováno v: Balkan Journal of Medical Genetics, Vol 15, Iss 1, Pp 37-44 (2012)

Externí odkaz: https://doaj.org/article/cb6e37fe36cd4ca8a47961f4c8289e27

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.

Autor: Tebieva, Inna S.^1,2 (AUTHOR) gabis32@mail.ru, Mishakova, Polina V.³ (AUTHOR) rabota.bio@gmail.com, Gabisova, Yulia V.² (AUTHOR) alansio89@mail.ru, Khokhova, Alana V.² (AUTHOR), Kaloeva, Tamara G.¹ (AUTHOR) kaloeva-tamara1991@rambler.ru, Marakhonov, Andrey V.³ (AUTHOR) marakhonov@generesearch.ru, Shchagina, Olga A.³ (AUTHOR) schagina@med-gen.ru, Polyakov, Alexander V.³ (AUTHOR) polyakov@med-gen.ru, Ginter, Evgeny K.³ (AUTHOR) ekginter@mail.ru, Kutsev, Sergey I.³ (AUTHOR) kutsev@mail.ru, Zinchenko, Rena A.³ (AUTHOR) renazinchenko@mail.ru

Publikováno v: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 9, p4598. 12p.

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Autor: Fetta, Anna^1,2 (AUTHOR), Toni, Francesco³ (AUTHOR), Pettenuzzo, Ilaria^1,2 (AUTHOR), Ricci, Emilia⁴ (AUTHOR) emilia.ricci@unimi.it, Rocca, Alessandro⁵ (AUTHOR), Gambi, Caterina^1,2 (AUTHOR), Soliani, Luca¹ (AUTHOR), Di Pisa, Veronica¹ (AUTHOR), Martini, Silvia^2,6 (AUTHOR), Sperti, Giacomo⁷ (AUTHOR), Cagnazzo, Valeria⁷ (AUTHOR), Accorsi, Patrizia⁸ (AUTHOR), Bartolini, Emanuele⁹ (AUTHOR), Battaglia, Domenica¹⁰ (AUTHOR), Bernardo, Pia¹¹ (AUTHOR), Canevini, Maria Paola⁴ (AUTHOR), Ferrari, Anna Rita⁹ (AUTHOR), Giordano, Lucio⁸ (AUTHOR), Locatelli, Chiara⁶ (AUTHOR), Mancardi, Margherita¹² (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 3/8/2024, Vol. 19 Issue 1, p1-15. 15p.

Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.

Autor: Zerjav Tansek M; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia. mojca.tansek@mf.uni-lj.si., Groselj U; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia. urh.groselj@kclj.si., Angelkova N; University Children's Hospital Skopje, Skopje, Macedonia. nangelkova2002@yahoo.com., Anton D; Clinical Hospital for Children 'Sfanta Maria', Iasi, Romania. antondana66@yahoo.com., Baric I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia. ibaric@kbc-zagreb.hr.; School of Medicine, University of Zagreb, Zagreb, Croatia. ibaric@kbc-zagreb.hr., Djordjevic M; Mother and Child Health Care Institute of Serbia, Belgrade, Serbia. mayamarko@gmail.com., Grimci L; University Hospital Center 'Mother Teresa', Tirana, Albania. linditagrimci@yahoo.com., Ivanova M; National Genetics Laboratory, Sofia, Bulgaria. ivanovam@yahoo.com., Kadam A; University Pediatric Hospital Sofia, Sofia, Bulgaria. hadil@abv.bg., Kotori V; Pediatric Clinic, University Clinical Center Pristina, Pristina, Kosovo. vjosakotori@hotmail.com., Maksic H; University Clinical Center Sarajevo, Sarajevo, Bosnia and Herzegovina. hajrijam@lol.ba., Marginean O; Clinical Hospital of Targu Mures, Targu Mures, Romania. marginean.oana@gmail.com., Margineanu O; Clinica Hospital for Children 'Luis Turcanu', Timisoara, Romania. otiliamargineanu@yahoo.com., Miljanovic O; Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro. oliveram@ac.me., Moldovanu F; Mother and Child Health Care Institute 'Alfred Rusescu', Bucharest, Romania. florentina.moldovanu@gmail.com., Muresan M; Clinical Hospital for Children 'Iuliu Hateganu', Cluj-Napoca, Romania. marianamuresan2@gmail.com., Nanu M; Mother and Child Health Care Institute 'Alfred Rusescu', Bucharest, Romania. micka@clicknet.ro., Samardzic M; Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro. samardzic@t-com.me., Sarnavka V; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia. vladosarna@yahoo.com., Savov A; National Genetics Laboratory, Sofia, Bulgaria. alexey.savov@abv.bg., Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia. maja.stojiljkovic@imgge.bg.ac.rs., Suzic B; Children Hospital Banja Luka, Banja Luka, Republic of Srpska, Bosnia and Herzegovina. biljanas@blic.net., Tincheva R; University Pediatric Hospital Sofia, Sofia, Bulgaria. radka.tincheva@gmail.com., Tahirovic H; Department of Medical Sciences, Academy of Sciences and Arts of Bosnia and Herzegovina, Sarajevo, Bosnia and Herzegovina. husref.tahirovic@untz.ba., Toromanovic A; Department of Pediatrics, University Clinical Center Tuzla, Tuzla, Bosnia and Herzegovina. almatoromanovic@bih.net.ba., Usurelu N; Institute of Mother and Child, Centre of Reproductive Health and Medical Genetics, Chisinau, Moldova. natalia.usurelu@yahoo.com., Battelino T; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia. tadej.battelino@mf.uni-lj.si.; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. tadej.battelino@mf.uni-lj.si.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 May 30; Vol. 10, pp. 68. Date of Electronic Publication: 2015 May 30.

Newborn screening in southeastern Europe.

Autor: Groselj U; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia., Tansek MZ; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia., Smon A; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia., Angelkova N; University Children's Hospital Skopje, Skopje, Macedonia., Anton D; Clinical Hospital for Children 'Sfanta Maria', Iasi, Romania., Baric I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia., Djordjevic M; Mother and Child Health Care Institute of Serbia, Belgrade, Serbia., Grimci L; University Hospital Center 'Mother Teresa', Tirana, Albania., Ivanova M; National Genetics Laboratory, Sofia, Bulgaria., Kadam A; University Pediatric Hospital Sofia, Sofia, Bulgaria., Kotori VM; Pediatric Clinic, University Clinical Center Pristina, Pristina, Kosovo., Maksic H; University Clinical Center Sarajevo, Sarajevo, Bosnia and Herzegovina., Marginean O; Clinical Hospital of Targu Mures, Romania., Margineanu O; Clinical Hospital for Children 'Luis Turcanu', Timisoara, Romania., Milijanovic O; Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro., Moldovanu F; Mother and Child Health Care Institute 'Alfred Rusescu', Bucharest, Romania., Muresan M; Clinical Hospital for Children 'Iuliu Hateganu', Cluj-Napoca, Romania., Murko S; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia., Nanu M; Mother and Child Health Care Institute 'Alfred Rusescu', Bucharest, Romania., Lampret BR; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia., Samardzic M; Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro., Sarnavka V; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia., Savov A; National Genetics Laboratory, Sofia, Bulgaria., Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia., Suzic B; Children Hospital Banja Luka, Banja Luka, Republic of Srpska, Bosnia and Herzegovina., Tincheva R; University Pediatric Hospital Sofia, Sofia, Bulgaria., Tahirovic H; Department of Medical Sciences, Academy of Sciences and Arts of Bosnia and Herzegovina, Sarajevo, Bosnia and Herzegovina., Toromanovic A; Department of Pediatrics, University Clinical Center Tuzla, Tuzla, Bosnia and Herzegovina., Usurelu N; Institute of Mother and Child, Centre of Reproductive Health and Medical Genetics, Chisinau, Republic of Moldova., Battelino T; University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. Electronic address: tadej.battelino@mf.uni-lj.si.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2014 Sep-Oct; Vol. 113 (1-2), pp. 42-5. Date of Electronic Publication: 2014 Aug 01.