Pharmacogenomics at the center of precision medicine: challenges and perspective in an era of Big Data

Authors: Primorac, Dragan, Bach-Rojecky, Lidija, Vađunec, Dalia, Juginović, Alen, Žunić, Katarina, Matišić, Vid, Skelin, Andrea, Arsov, Borna, Boban, Luka, Erceg, Damir, Ivkošić, Ivana Erceg, Molnar, Vilim, Ćatić, Jasmina, Mikula, Ivan, Boban, Ljubica, Primorac, Lara, Esquivel, Bernard, Donaldson, Morgan

Source: Pharmacogenomics. 21(2):141-156

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186575032.0x000001&indx=1&recIds=ETOCvdc_100186575032.0x000001

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

Authors: Barisic, Ingeborg, Boban, Ljubica, Akhmedzhanova, Diana, Bergman, Jorieke E.H., Cavero-Carbonell, Clara, Grinfelde, Ieva, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Randrianaivo, Hanitra, Zymak-Zakutnya, Natalya, Sansovic, Ivona, Lanzoni, Monica, Morris, Joan K.

Source: In European Journal of Medical Genetics September 2018 61(9):499-507

Epidemiology of achondroplasia: A population‐based study in Europe

Authors: Coi, Alessio, Santoro, Michele, Garne, Ester, Pierini, Anna, Addor, Marie‐Claude, Alessandri, Jean‐Luc, Bergman, Jorieke E. H., Bianchi, Fabrizio, Boban, Ljubica, Braz, Paula, Cavero‐Carbonell, Clara, Gatt, Miriam, Haeusler, Martin, Klungsøyr, Kari, Kurinczuk, Jennifer J., Lanzoni, Monica, Lelong, Nathalie, Luyt, Karen, Mokoroa, Olatz, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., O'Mahony, Mary T., Perthus, Isabelle, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wisniewska, Katarzyna, Zymak‐Zakutnia, Nataliia, Barišić, Ingeborg

Source: American journal of medical genetics.Part A. 179(9):1791-1798

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087162255.0x000001&indx=1&recIds=ETOCvdc_100087162255.0x000001

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Authors: Santoro, Michele, Coi, Alessio, Barišić, Ingeborg, Garne, Ester, Addor, Marie-Claude, Bergman, Jorieke E.H., Bianchi, Fabrizio, Boban, Ljubica, Braz, Paula, Cavero-Carbonell, Clara, Gatt, Miriam, Haeusler, Martin, Kinsner-Ovaskainen, Agnieszka, Klungsøyr, Kari, Kurinczuk, Jennifer J., Lelong, Nathalie, Luyt, Karen, Materna-Kiryluk, Anna, Mokoroa, Olatz, Mullaney, Carmel, Nelen, Vera, Neville, Amanda Julie, O'Mahony, Mary T., Perthus, Isabelle, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Yevtushok, Lyubov, Pierini, Anna

Source: Neuroepidemiology. 53(3/4):169-179

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093395303.0x000001&indx=1&recIds=ETOCvdc_100093395303.0x000001

Molecular basis of osteogenesis imperfecta and future medical treatment

Authors: Boban, Ljubica, Rod, Eduard, Plečko, Mihovil, Slišković, Ana Marija, Korbler, Juraj, Primorac, Dragan

Source: Paediatria Croatica. 61(3):147-155

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN614281222&indx=1&recIds=ETOCRN614281222

De novo complex chromosomal rearrangement in region 2q32q35

Authors: Ivankov, Ana-Maria, Bobinec, Adriana, Boban, Ljubica, Sansović, Ivona, Barišić, Ingeborg

Source: Paediatria Croatica. 61(2):78-83

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN612357237&indx=1&recIds=ETOCRN612357237

Significance of surgery for prognosis of gist in cohort from transitional healthcare settings

Authors: Zovak, Mario, Boban, Marko, Boban, Ljubica, Cicek, Slaven, Madzar, Zrinko, Belev, Borislav, Tomas, Davor

Source: In International Journal of Surgery November 2014 12(11):1167-1171

Microdeletion of chromosomal region 8q23.3-q24.11 associated with Langer-Giedion and Cornelia de Lange type IV syndromes

Authors: Ivankov, Ana-Maria, Bobinec, Adriana, Boban, Ljubica, Sansović, Ivona, Barišić, Ingeborg

Source: Paediatria Croatica. 60(3):106-111

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN609318981&indx=1&recIds=ETOCRN609318981

Impact of Cardiovascular Treatments and Systolic Dysfunction on Nutritional Risk in Patients with Ischemic and Valvular Heart Disease

Authors: Boban, Marko, Persic, Viktor, Petricevic, Mate, Manola, Sime, Boban, Ljubica, Vcev, Aleksandar

Source: Journal of the American College of Nutrition. 34(2):159-166

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100027228721.0x000001&indx=1&recIds=ETOCvdc_100027228721.0x000001

Clinically relevant copy number variants in children with congenital anomalies

Authors: Sansovic, Ivona, Boban, Ljubica, Ivankov, Ana-Maria, Bobinec, Adriana, Barišic, Ingeborg

Source: European journal of medical genetics. 61(9):568-569

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081667924.0x000001&indx=1&recIds=ETOCvdc_100081667924.0x000001

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Authors: Barisic, Ingeborg¹, Boban, Ljubica¹, Loane, Maria², Garne, Ester³, Wellesley, Diana⁴, Calzolari, Elisa⁵, Dolk, Helen², Addor, Marie-Claude⁶, Bergman, Jorieke EH⁷, Braz, Paula⁸, Draper, Elizabeth S⁹, Haeusler, Martin¹⁰, Khoshnood, Babak¹¹, Klungsoyr, Kari¹², Pierini, Anna¹³, Queisser-Luft, Annette¹⁴, Rankin, Judith¹⁵, Rissmann, Anke¹⁶, Verellen-Dumoulin, Christine¹⁷

Source: European Journal of Human Genetics. Jun2015, Vol. 23 Issue 6, p746-752. 7p.

Subject Terms: *MECKEL diverticulum, *GASTROINTESTINAL system abnormalities, *AUTOSOMAL recessive polycystic kidney, *HUMAN abnormalities, *CENTRAL nervous system abnormalities

Novosti u dijagnostici i liječenju Hunterovog sindroma.

Alternate Title: News in Hunter syndrome diagnosis and therapy.

Authors: Boban, Ljubica¹ ljubica.odak7@gmail.com

Source: Paediatria Croatica. Apr-Jun2015, Vol. 59 Issue 2, p99-105. 7p.

Epidemiology of Pierre‐Robin sequence in Europe: A population‐based EUROCAT study.

Authors: Santoro, Michele, Coi, Alessio, Barišić, Ingeborg, Pierini, Anna, Addor, Marie‐Claude, Baldacci, Silvia, Ballardini, Elisa, Boban, Ljubica, Braz, Paula, Cavero‐Carbonell, Clara, de Walle, Hermien E. K., Draper, Elizabeth S., Gatt, Miriam, Haeusler, Martin, Klungsøyr, Kari, Kurinczuk, Jennifer J., Materna‐Kiryluk, Anna, Lanzoni, Monica, Lelong, Nathalie, Luyt, Karen

Source: Paediatric & Perinatal Epidemiology; Sep2021, Vol. 35 Issue 5, p530-539, 10p

Subject Terms: PIERRE Robin Syndrome, JAW abnormalities, RESPIRATORY diseases, EPIDEMIOLOGY, CHILDBIRTH

Holt Oram syndrome: a registry-based study in Europe.

Authors: Barisic, Ingeborg¹ ingeborg.barisic@kdb.hr, Boban, Ljubica¹ ljubica.boban7@gmail.com, Greenlees, Ruth² R.Greenlees@ulster.ac.uk, Garne, Ester³ ester.garne@rsyd.dk, Wellesley, Diana⁴ dgw@soton.ac.uk, Calzolari, Elisa⁵ nvm@unife.it, Addor, Marie-Claude⁶ marie-claude.addor@chuv.ch, Arriola, Larraitz⁷ l-arriola@ej-gv.es, Bergman, Jorieke E. H.⁸ j.e.h.van.kammen@umcg.nl, Braz, Paula⁹ carlos.dias@insa.min-saude.pt, Budd, Judith L. S.¹⁰ jlsb1@leicester.ac.uk, Gatt, Miriam¹¹ miriam.gatt@gov.mt, Haeusler, Martin¹² martin.haeusler@medunigraz.at, Khoshnood, Babak¹³ babak.khoshnood@inserm.fr, Klungsoyr, Kari¹⁴ kari.klungsoyr@fhi.no, McDonnell, Bob¹⁵ bob.mcdonnell@hse.ie, Nelen, Vera¹⁶ vera.nelen@pih.provant.be, Pierini, Anna¹⁷ apier@ifc.cnr.it, Queisser-Wahrendorf, Annette¹⁸ queisser@kinder.klinik.uni-mainz.de, Rankin, Judith¹⁹ judith.rankin@ncl.ac.uk

Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p1-19. 19p.

Subject Terms: *HOLT-Oram syndrome, *CONGENITAL heart disease, *PRENATAL care, *PREGNANCY complications, ARM abnormalities

De novo složena kromosomska preraspodjela u regiji 2q32q35. (Croatian)

Alternate Title: De novo complex chromosomal rearrangement in region 2q32q35. (English)

Authors: Ivankov, Ana-Maria, Bobinec, Adriana, Boban, Ljubica, Sansović, Ivona, Barišić, Ingeborg

Source: Paediatria Croatica; 2017, Vol. 61 Issue 2, p78-83, 6p

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