Pregled po CROSBI profilu: Ingeborg Barišić (CROSBI Profil: 13659, MBZ: 168183)

451.

Petković, Iskra; Barišić, Ingeborg

Unusual mosaicism due to non-homologous postzygotic recombination involving chromosomes 6 and 10 in the mother, and 46,Xder(X)t(X;6) in her daughter // European Journal of Human Genetics, 9 (2001), 1. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

452.

Barišić, Ingeborg; Clementi, Maurizio; Haeusler, Martin; Gjergja, Romana; Kern, Josipa; Stoll, Claude

Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries // Ultrasound in Obstetrics and Gynecology, 18 (2001), 4; 309-316 (međunarodna recenzija, članak, znanstveni)

453.

Hećimović, Silva; Vlašić, Jelena; Barišić, Ingeborg; Marković, Dubravko; Čulić, Vida; Pavelić, Krešimir

A simple and rapid analysis of triplet repeat diseases by Expand Long PCR // Clinical Chemistry and Laboratory Medicine, 39 (2001), 12; 1259-1262 (međunarodna recenzija, članak, znanstveni)

454.

Primorac, Dragan; Rowe, David, W; Mottes, Monica; Barišić, Ingeborg; Antičević, Darko; Mirandola, Stefania; Gomez Lira, Macarena; Kalajzić, Ivo; Kušec, Vesna; Glorieux, Francis, H

Osteogenesis imperfecta at the beginning of bone and joint decade // Croatian Medical Journal, 42 (2001), 4; 393-415 (podatak o recenziji nije dostupan, pregledni rad, ostalo)

455.

Ligutić, Ivo; Barišić, Ingeborg; Antičević, Darko; Vrdoljak, Javor; Primorac, Dragan;

Koštane displazije - specifična zdravstvena skrb djece s hondrodisplazijama // Paediatria Croatica, 45 (2001), 1; 19-26 (podatak o recenziji nije dostupan, pregledni rad, stručni)

Pristup cjelovitom tekstu rada

456.

Barišić, Ingeborg; Haeusler, Martin; Clementi, Maurizio; Gjergja-Matejić, Romana; Stoll, Claude

Prenatal ultrasound detection of abdominal wall defects: associated malformations, chromosomal abnormalities and pregnancy outcome // European journal of human genetics, 1 (2000), 8. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

457.

Petković, Iskra; Barišić, Ingeborg

Chromosome inactivation pattern study in an unbalanced X;6 translocation // European journal of human genetics, 1 (2000), 8. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

458.

Barišić, Ingeborg; Clementi, Maurizio; Haeusler, Martin; Gjergja-Matejić, Romana

Evaluation of routine prenatal ultrasound detection of fetal gastrointestinal malformations: European multicentric study // Ultrasound in obstetrics & gynecology, 16 (2000), 1. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

459.

Barišić, Ingeborg; Clementi, Maurizio; Haeusler, Martin; Gjergja, Romana; Modrušan-Mozetič, Zlata; Žužek, Adele; Stanojević, Milan; Beer, Zlata; Stoll, Claude; EUROSCAN Study Group

Evaluacija prenatalnog otkrivanja dijafragmalnih hernija rutinskim ultrazvučnim pregledom u 19 europskih centara // Paediatria Croatica, 44 (2000), 3. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

460.

Barišić, Ingeborg; Stoll, Claude; Clementi, Maurizio; Haeusler, Martin; Gjergja-Matejić, Romana; Modrušan-Mozetič, Zlata; Žužek, Adele; Stanojević, Milan; Beer, Zlata; EUROSCAN Study Group

Učinkovitost prenatalnog ultrazvučnog otkrivanja kongenitalnih malformacija: europsko multicentrično ispitivanje // Paediatria Croatica, 44 (2000), 3. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

461.

Barišić, Ingeborg; Clementi, Maurizio; Haeusler, Martin; Gjergja, Romana; Modrušan-Mozetič, Zlata; Žužek, Adele, Stanojević, Milan; Beer, Zlata; Stoll, Claude; EUROSCAN Study Group

Evaluation of prenatal ultrasound detection of fetal abdominal wall defects: European multicentric study // Proceedings of the XXII Alpe Adria Meeting of Perinatal Medicine ( XIV Congress) / Dražančić, Ante; Elkaz, B. (ur.).
Čakovec: Zrinski, dd, 2000. (predavanje, međunarodna recenzija, sažetak, znanstveni)

462.

Barišić, Ingeborg; Petković, Iskra; Mrsić, Sanja; Gjergja-Matejić, Romana

Citogenetička i FISH analiza u dječaka sa sindromom 48, XXYY // Paediatria Croatica, 44 (2000), 1-2; 65-68 (podatak o recenziji nije dostupan, članak, stručni)

463.

Tanacković, Goranka; Barišić, Ingeborg; Gjergja-Matejić, Romana; Hećimović, Silva; Pavelić, Jasminka

The incidence of cystic fibrosis (CF) mutations among patients from Croatia // Clinical Genetics, 58 (2000), 4; 333-335 (međunarodna recenzija, članak, znanstveni)

464.

Barišić, I; Marušić–Dellamarina, B; Hećimović, S; Lujić, L; Gjergja-Matejić, R.

Etičko promišljanje liječnika - nekad i danas // Paediatria Croatica, 43 (1999), 1. (međunarodna recenzija, pregledni rad, znanstveni)

www.paedcro.com

465.

Barišić, Ingeborg

Osnove humane genetike // Paediatria Croatica, 43 (1999), suppl 2; 65-66 (podatak o recenziji nije dostupan, kongresno priopcenje, stručni)

466.

Barišić, Ingeborg; Hećimović, Silva; Pavelić, Krešimir

Genetic screening for the fragile X syndrome in population at risk: clinical preselection notably improves cost-effectiveness of fragile X population studies // EUROCAT-ICBDMS International Symposium on Registration and Prevention of Congenital Anomalies - September 25-26, 1998 - Firenze, Italy - Abstract. Reproductive Toxicology. 13(4):321-340, 1999
Firenca, Italija, 1999. str. 330-330 (poster, sažetak, znanstveni)

467.

Barišić, Ingeborg; Juretić, Emilija; Peter, Branimir; Mikecin, Lili; Gjergja-Matejić Romana

Toriello-Carey syndrome in two siblings: further delineation and confirmation of an autosomal recessive inheritance // European Journal of Human Genetics, 7 (1999), 1-2. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

468.

Tanacković, Goranka; Barišić, Ingeborg; Pavelić, Krešimir

The occurrence of the most common CFTR mutations among Croatian cystic fibrosis patients // European Journal of Human Genetics, 7 (1999), Suppl 1. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

469.

Barišić, Ingeborg; Petković, Iskra; Morožin, Leona

De novo interstitial deletion of 8p21-p23 in a patient with dysmorphic features and normal development // Cytogenetics and Cell Genetics, 85 (1999), 1-2. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

470.

Barišić, Ingeborg; Lasan, Ružica; Petković, Iskra; Morožin, Leona

Interstitial del(11)(q14q21) associated with severe malformation syndrome // Cytogenetics and Cell Genetics, 85 (1999), 1-2. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

471.

Barišić, Ingeborg; Marušić-Della Marina, Branka; Hećimović, Silva; Lujić, Lucija; Gjergja-Matejić, Romana

Epilepsija i EEG zapisi u bolesnika s mutacijomm u FMR1 genu // Paediatria Croatica, 43 (1999), 3; 105-110 (međunarodna recenzija, članak, znanstveni)

472.

Petković, Iskra; Barišić, Ingeborg; Lasan, Ružica

Proximal 6p trisomy due to unbalanced (X ; 6) translocation: clinical and cytogenetic characterization // 30th Annual Meeting of the European Society of Human Genetics - Lisabon, Portugal - 10-13 May 1998 - Final Programme and Abstracts. European Journal of Human Genetics. 6(Suppl 1), 1998
Lisabon, Portugal, 1998. (poster, sažetak, znanstveni)

473.

Barišić, Ingeborg; Petković, Iskra; Lasan, Ružica

Deletion (8)(p21.1): clinical description of a new patient with mild phenotypic manifestations and normal development // 30th Annual Meeting of the European Society of Human Genetics - Lisabon, Portugal - 10-13 May 1998 - Final Programme and Abstracts. European Journal of Human Genetics. 6(Suppl 1), 1998
Lisabon, Portugal, 1998. (poster, sažetak, znanstveni)

474.

Barišić, Ingeborg; Hećimović, Silva; Pavelić, Krešimir

Genetic screening for the fragile X syndrome in population at risk: clinical preselection notably improves cost-effectiveness of fragile X population studies // EUROCAT-ICBDMS International Symposium on Registration and Prevention of Congenital Anomalies - Programme and Abstracts / - (ur.).
Firenza : München: -, 1998. str. 21-21 (poster, međunarodna recenzija, sažetak, znanstveni)

475.

Hrešić Kršulović, Vilka; Löffler Badžek, Dagmar; Percl, Mirjana; Barišić, Ingeborg; Herceg Čavrak, Vesna; Grgić Jandriš, Dunja; Barčot, Lj.; Vukmanić, D.; Cetinić, L.

Bolničko i ambulantno zbrinjavanje bolesnika s cističnom fibrozom u našoj ustanovi // Paediatria Croatica, 42 (1998), Suppl 2. (podatak o recenziji nije dostupan, kongresno priopcenje, stručni)

476.

Hećimović, Silva; Barišić, Ingeborg; Pavelić, Krešimir

DNA analysis of the fragile X syndrome in at risk pediatric population in Croatia // Paediatria Croatica, 42 (1998), Suppl 3. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

477.

Tanacković, Goranka; Hećimović, Silva; Barišić, Ingeborg; Pavelić, Krešimir

Cystic fibroisis mutation screening program for Croatian CF patients // Paediatria Croatica, 42 (1998), Suppl 3. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

478.

Barišić, Ingeborg; Mrsić, Sanja; Petković, Iskra; Gjergja-Matejić, Romana

48, XXYY sindrom // Paediatria Croatica, 42 (1998), Suppl 3. (podatak o recenziji nije dostupan, kongresno priopcenje, stručni)

479.

Schuffenhauer, Simone; Lichtner Peter; Peykar-Derakhshandeh, Popak; Murken, Jan; Haas, Oskar; Back, Elke; Wolff, Gerhard; Zabel, Bernhard; Barišić, Ingeborg; Rauch, Anita et al.

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). // European Journal of Human Genetics, 6 (1998), 3; 213-225 (međunarodna recenzija, članak, znanstveni)

480.

Hećimović, Silva; Barišić, Ingeborg; Marković, Dubravko; Škarpa, Ingrid; Relja, Maja; Pavelić, Krešimir

Trinucleotide Repeat Diseases - DNA molecular analysis using a simple Expand Long PCR assay // Periodicum Biologorum, 100 (1998), 3; 353-360 (međunarodna recenzija, članak, znanstveni)

481.

Hećimović, Silva; Barišić, Ingeborg; Pavelić, Krešimir

DNA Analysis of the Fragile X Syndrome in an at Risk Pediatric Population in Croatia: Simple Clinical Preselection Criteria Can Considerably Improve the Cost-Effectiveness of Fragile X Screening Studies // Human Heredity, 48 (1998), 5; 256-265 (međunarodna recenzija, članak, znanstveni)

482.

Fumić, Ksenija; Ligutić, Ivo; Barišić, Ingeborg; Sabadoš, Marija; Stavljenić-Rukavina, Ana

The first case of mucolipidosis III in Croatia // Medizinische Genetik, 1 (1997) (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

483.

Schuffenhauer, Simone; Lichtner, Peter; Peykar-Derakhshandeh, Popak; Haas, Oskar; Back, Elke; Wolff, Gerhard; lipson, A, Zabel, Bernhard; Barišić, Ingeborg; Borochowitz, Zvi; Rauch, Anita et al.

Phenotype analysis and deletion mapping in patients with partial monosomy 10p - determination of a critical region for DiGeorge and velocardiofacial syndrome // Medizinische Genetik, 1 (1997) (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

484.

Barišić, Ingeborg; Petković, Iskra

Severe limb deficiency in a child with dup(10)(q24.1->qter) syndrome // Medizinische Genetik, 9 (1997), 2. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

485.

Flomen, Rachel H.; Vatcheva, Radost; Gorman, Patricia A.; Baptista, Pedro R.; Groet, Juergen; Barišić, Ingeborg; Ligutić, Ivo; Nižetić, Dean

Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks at a distance of 70 kpb from this gene // Medizinische Genetik, 9 (1997), 2. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

486.

Hećimović, Silva; Barišić, Ingeborg; Ligutić, Ivo; Pavelić, Krešimir

Expand long PCR for fragile X mutation detection // Medizinische Genetik, 9 (1997), 2. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

487.

Schuffenhauer, Simone; Lichtner, Peter; Derakhshander-Peykar, Popak; Haas, Oskar; Back, Elke; Wolff, Gerhard; Lipson, A.; Zabel, Bernhard; Barišić, Ingeborg; Borochowitz, Zvi et al.

Deletion mapping in patients with partial monosomy 10p - determinatnion of a critical region for DiGeorge and velocardiofacial syndrome // Medizinische Genetik, 9 (1997), 2. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)

488.

Ligutić, Ivo; Barišić, Ingeborg; Kapitanović, Helena; Beer, Zlata; Modrušan-Mozetič, Zlata; Capar, Marijan; Žužek, Adela; Stanojević, Milan; Švel, Ivo; Hiršl-Hečej, Vlasta

Jedanaestogodišnje registriranje kongenitalnih anomalija u Hrvatskoj u sklopu međunarodnog projekta EUROCAT // Liječnički Vjesnik, 119 (1997), 47-53 (međunarodna recenzija, članak, znanstveni)

489.

Modrušan-Mozetič, Zlata; Ligutić, Ivo; Barišić, Ingeborg; Čekada, Senija; Mahulja-Stamenković, Vesna; Samardžija, Radojka; Girotto, Vlasta; Tomašić-Martinis, Elizabeta

EUROCAT - mogući utjecaj okoliša na kongenitalne anomalije // Medicina : glasilo Hrvatskoga liječničkoga zbora, Podružnica Rijeka, 33 (1997), 51-54 (podatak o recenziji nije dostupan, članak, znanstveni)

490.

Barić, Ivo; Barišić, Ingeborg; Begović, Davor

Genetic services in Croatia // European Journal of Human Genetics, 5 (1997), S2; 46-50 (recenziran, članak, stručni)

repository.library.georgetown.edu

491.

Flomen, Rachel H.; Vatcheva, Radost; Gorman, Patricia A.; Baptista, Pedro R.; Groet, Juergen; Barišić, Ingeborg; Ligutić, Ivo; Nižetić, Dean

Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene // Genomics, 47 (1997), 3; 409-413 doi:10.1006/geno.1997.5127 (međunarodna recenzija, članak, znanstveni)

doi www.sciencedirect.com

492.

Flomen, Rachel; Gorman, Patricia; Vatcheva, Radost, Groet, Juergen; Barišić, Ingeborg; Ligutić, Ivo; Sheer, Denise; Nižetić, Dean

Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193 // Journal of Medical Genetics, 34 (1997), 3; 191-195 (međunarodna recenzija, članak, znanstveni)

493.

Flomen, Rachel; Vatcheva, Radost; Gorman, Patricia; Baptista, Pedro; Groet, Juergen; Barisic, Ingeborg; Ligutic, Ivo; Nizetic, Dean.

Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. // Genomics, 47 (1997), 3; 409-13 (međunarodna recenzija, članak, znanstveni)

494.

Barišić, Ingeborg

Etičke dvojbe u suvremenoj medicinskoj genetici // Paediatria Croatica, 41 (1997), 145-150 (recenziran, pregledni rad, stručni)

495.

Hećimović, Silva; Barišić, Ingeborg; Mueller, Andreas; Petković, Iskra; Barić, Ivo; Ligutić, Ivo; Pavelić, Krešimir

Expand long PCR for fragile X mutation detection // Clinical genetics, 52 (1997), 3; 147-154 (međunarodna recenzija, članak, znanstveni)

496.

Ligutić, Ivo; Barišić, Ingeborg; Fumić, Ksenija; Sabadoš, Marija

Mukolipidoza tip III (prikaz bolesnika) // Liječnički vjesnik : glasilo Hrvatskoga liječničkog zbora, 118 (1996), 17-20 (podatak o recenziji nije dostupan, članak, stručni)

497.

Barišić, Ingeborg; Zergollern, Ljiljana; Mužinić, Dubravka; Hitrec, Vlasta

Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience // Clinical Genetics, 49 (1996), 3; 145-151 (međunarodna recenzija, članak, znanstveni)

498.

Barišić, Ingeborg; Ligutić, Ivo; Zergollern, Ljiljana

Megalocornea mental retardation syndrome: Report of a new case // Journal of medical genetics, 33 (1996), 10; 882-883 doi:10.1136/jmg.33.10.882 (međunarodna recenzija, članak, znanstveni)

doi jmg.bmj.com

499.

Petković, Iskra; de Capoa, Adriana; Giancotti, Paola; Barišić, Ingeborg

Unusual segregation of t(11 ; 22) resulting from crossing-over followed by 3:1 disjunction at meiosis I // Clinical Genetics, 50 (1996), 6; 515-519 (međunarodna recenzija, članak, znanstveni)

500.

Petković, Iskra; de Capoa, Adriana; Giancotti, Paola; Barišić, Ingeborg

Unbalanced chromosome segregation of constitutional t(11:22) due to crossover followed by 3:1 disjunction at first meiosis // Medizinische Genetik, 2 (1995) (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)