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1

Congenital clubfoot in Europe: A population-based study

Wang, Hao, Barisic, Ingeborg, Loane, Maria, Addor, Marie-Claude, Bailey, Linda M., Gatt, Miriam, Klungsoyr, Kari, Mokoroa, Olatz, Nelen, Vera, Neville, Amanda J., O'Mahony, Mary, Pierini, Anna, Rissma

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.02 MB

english, 2019

2

Molecular genetic analysis in 93 patients and 193 family members with Classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in Croatia

Dumic, Katja K., Grubic, Zorana, Yuen, Tony, Wilson, Robert C., Kusec, Vesna, Barisic, Ingeborg, Stingl, Katarina, Sansovic, Ivona, Skrabic, Veselin, Dumic, Miroslav, New, Maria I.

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

2016

Language:

english

File:

PDF, 496 KB

english, 2016

3

Prevalence of the 35delG Mutation in the GJB2 Gene of Patients with Nonsyndromic Hearing Loss from Croatia

Matijević, Tanja, Balen, Sanja, Barišić, Ingeborg, Pavelić, Jasminka, Sansović, Ivona, Knežević, Jelena

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 104 KB

english, 2005

4

Holt Oram syndrome: a registry-based study in Europe

Barisic, Ingeborg, Boban, Ljubica, Greenlees, Ruth, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke EH, Braz, Paula, Budd, Judith LS, Gatt, M

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 263 KB

english, 2014

5

A Simple and Rapid Analysis of Triplet Repeat Diseases by Expand Long PCR

Hećimović, Silvia, Vlašic, Jelena, Barišić, Ingeborg, Marković, Dubravko, Čulić, Vida, Pavelić, Krešimir

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2001

Language:

english

File:

PDF, 224 KB

english, 2001

6

Further delineation of the Toriello-Carey syndrome: A report of two siblings

Ingeborg Barisic, Branimir Peter, Lili Mikecin

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 157 KB

english, 2003

7

Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother

Iskra Petković, Ingeborg Barišić, Mislav Bastić, Silva Hećimović, Ružica Bago

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 216 KB

english, 2003

8

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Ingeborg Barisic, Visnja Tokic, Maria Loane, Fabrizio Bianchi, Eliza Calzolari, Ester Garne, Diana Wellesley, Helen Dolk

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 153 KB

english, 2008

9

Paper 1: The EUROCAT network—organization and processes

Patricia A. Boyd, Martin Haeusler, Ingeborg Barisic, Maria Loane, Ester Garne, Helen Dolk

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2011

Language:

english

File:

PDF, 120 KB

english, 2011

10

Paper 6: EUROCAT member registries: Organization and activities

Ruth Greenlees, Amanda Neville, Marie–Claude Addor, Emmanuelle Amar, Larraitz Arriola, Marian Bakker, Ingeborg Barisic, Patricia A. Boyd, Elisa Calzolari, Berenice Doray, Elizabeth Draper, Stein Emil

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2011

Language:

english

File:

PDF, 636 KB

english, 2011

11

Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases

Ester Garne, Helen Dolk, Maria Loane, Diana Wellesley, Ingeborg Barisic, Elisa Calzolari, James Densem, a EUROCAT Working Group

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2011

Language:

english

File:

PDF, 161 KB

english, 2011

12

Eurocat Report 9: Surveillance of Congenital Anomalies in Europe 1980–2008

Patricia A. Boyd, Martin Haeusler, Ingeborg Barisic

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

13

Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries

Martin C. H. Haeusler, Andrea Berghold, Claude Stoll, Ingeborg Barisic, Maurizio Clementi

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 83 KB

english, 2002

14

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I

Visnja Tokic, Ingeborg Barisic, Nevenka Huzjak, Giorgie Petkovic, Ksenija Fumic, Eduard Paschke

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 138 KB

english, 2007

15

Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient

Katja Dumic, Ingeborg Barisic, Kristina Potocki, Ivona Sansovic

Journal:

Journal of Applied Genetics

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

16

Expand Long PCR for fragile X mutation detection

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

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 1.32 MB

english, 1997

17

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

Schuffenhauer, Simone, Lichtner, Peter, Peykar-Derakhshandeh, Popak, Murken, Jan, Haas, Oskar A, Back, Elke, Wolff, Gerhard, Zabel, Bernhard, Barisic, Ingeborg, Rauch, Anita

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 357 KB

english, 1998

18

The MECP2 Gene Mutation Screening in Rett Syndrome Patients from Croatia

TANJA MATIJEVIĆ, JELENA KNEŽEVIĆ, INGEBORG BARIŠIĆ, BISERKA REŠIĆ, VIDA ČULIĆ, JASMINKA PAVELIĆ

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

19

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

Ester Garne, Maria Loane, Helen Dolk, Ingeborg Barisic, Marie-Claude Addor, Larraitz Arriola, Marian Bakker, Elisa Calzolari, Carlos Matias Dias, Berenice Doray, Miriam Gatt, Kari Klyungsoyr Melve, Ve

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 1019 KB

english, 2012

20

Congenital hydrocephalus – prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

Ester Garne, Maria Loane, Marie-Claude Addor, Patricia A. Boyd, Ingeborg Barisic, Helen Dolk

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 201 KB

english, 2010

21

Preventing neural tube defects in Europe: A missed opportunity

Araceli Busby, Ben Armstrong, Helen Dolk, Nicola Armstrong, Martin Haeusler, Andrea Berghold, Yves Gillerot, Andre Baguette, Romana Gjergja, Ingeborg Barisic, Marianne Christiansen, Janine Goujard, Vo

Journal:

Reproductive Toxicology

Year:

2005

Language:

english

File:

PDF, 282 KB

english, 2005

22

Erratum to “Preventing neural tube defects in Europe: A missed opportunity” [Reprod. Toxicol. 20 (2005) 393–402]

Araceli Busby, Lenore Abramsky, Helen Dolk, Ben Armstrong, Marie-Claude Addor, Goran Anneren, Nicola Armstrong, Andre Baguette, Ingeborg Barisic, Andrea Berghold, Sebastiano Bianca, Paula Braz, Elisa

Journal:

Reproductive Toxicology

Year:

2006

Language:

english

File:

PDF, 54 KB

english, 2006

23

FAS prevalence in a sample of urban schoolchildren in Croatia

Giorgie Petković, Ingeborg Barišić

Journal:

Reproductive Toxicology

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

24

Risk estimates for balanced reciprocal translocation carriers — prenatal diagnosis experience

Ingeborg Barišic, Liljana Zergollern, Dubravka Mužinic, Vlasta Hitrec

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 620 KB

english, 1996

25

Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I

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

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 792 KB

english, 1996

26

GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia

Sansović, Ivona, Knežević, Jelena, Musani, Vesna, Seeman, Pavel, Barišić, Ingeborg, Pavelić, Jasminka

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 208 KB

english, 2009

27

Construction and Analysis of a Sequence-Ready Map in 4q25: Rieger Syndrome Can Be Caused by Haploinsufficiency ofRIEG, but Also by Chromosome Breaks ≈90 kb Upstream of This Gene

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

Journal:

Year:

1998

Language:

english

File:

PDF, 203 KB

english, 1998

28

Recent Decrease in the Prevalence of Congenital Heart Defects in Europe

Babak Khoshnood, Maria Loane, Ester Garne, Marie-Claude Addor, Larraitz Arriola, Marian Bakker, Ingeborg Barisic, Sebastiano Bianca, Patricia Boyd, Elisa Calzolari, Berenice Doray, Elizabeth Draper, M

Journal:

The Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 222 KB

english, 2013

29

Congenital hydronephrosis: Prenatal diagnosis and epidemiology in Europe

Ester Garne, Maria Loane, Diana Wellesley, Ingeborg Barisic, EUROCAT Working Group

Journal:

Journal of Pediatric Urology

Year:

2009

Language:

english

File:

PDF, 195 KB

english, 2009

30

Corrigendum to “Congenital hydronephrosis: Prenatal diagnosis and epidemiology in Europe” [J Pediatr Urol 5(1) (2009) 47–52]

Ester Garne, Maria Loane, Diana Wellesley, Ingeborg Barisic

Journal:

Journal of Pediatric Urology

Year:

2009

Language:

english

File:

PDF, 59 KB

english, 2009

31

Analysis of Cystic Fibrosis Gene Mutations and Associated Haplotypes in the Croatian Population

Knežević, Jelena, Tanacković, Goranka, Matijević, Tanja, Barišić, Ingeborg, Pavelić, Jasminka

Journal:

Genetic Testing

Year:

2007

Language:

english

File:

PDF, 123 KB

english, 2007

32

Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations

Jentink, Janneke, Loane, Maria A., Dolk, Helen, Barisic, Ingeborg, Garne, Ester, Morris, Joan K., de Jong-van den Berg, Lolkje T.W.

Journal:

Boston Medical and Surgical Journal

Year:

2010

Language:

english

File:

PDF, 181 KB

english, 2010

33

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Dimopoulou, Aikaterini, Fischer, Björn, Gardeitchik, Thatjana, Schröter, Phillipe, Kayserili, Hülya, Schlack, Claire, Li, Yun, Brum, Jaime Moritz, Barisic, Ingeborg, Castori, Marco, Spaich, Christiane

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

34

Fraser Syndrome: Epidemiological Study in a European Population

Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Boyd, Patri

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 123 KB

english, 2013

35

Improved Detection of Deletions and Duplications in theDMDGene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method

Ivona Sansović,Ingeborg Barišić,Katja Dumić

Journal:

Biochemical Genetics

Year:

2013

Language:

english

File:

PDF, 505 KB

english, 2013

36

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

Barisic, Ingeborg, Boban, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Bergman, Jorieke EH, Braz, Paula, Draper, Elizabeth S, Haeusler, Ma

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 302 KB

english, 2015

37

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Doray, Bere

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 347 KB

english, 2014

38

Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population-based registry study

Calzolari, Elisa, Barisic, Ingeborg, Loane, Maria, Morris, Joan, Wellesley, Diana, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bianchi, Fabrizio, Neville, Amanda J., Budd, Judith L.S., Klungs

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2014

Language:

english

File:

PDF, 120 KB

english, 2014

39

Seasonality of congenital anomalies in Europe

Luteijn, Johannes Michiel, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Barisic, Ingeborg, Bianchi, Fabrizio, Calzolari, Elisa, Draper, Elizabeth, Garne, Ester, Gatt, Miriam, Haeusler, Martin,

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2014

Language:

english

File:

PDF, 369 KB

english, 2014

40

Hirschsprung's disease prevalence in Europe: A register based study

Best, Kate E., Addor, Marie-Claude, Arriola, Larraitz, Balku, Eszter, Barisic, Ingeborg, Bianchi, Fabrizio, Calzolari, Elisa, Curran, Rhonda, Doray, Berenice, Draper, Elizabeth, Garne, Ester, Gatt, Mi

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2014

Language:

english

File:

PDF, 193 KB

english, 2014

41

Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study

Morris, Joan K., Garne, Ester, Wellesley, Diana, Addor, Marie-Claude, Arriola, Larraitz, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Budd, Judith, Dias, Carlos Matias, Gatt, Miriam, Klungsoyr,

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 184 KB

english, 2014

42

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study

McGivern, Mark R, Best, Kate E, Rankin, Judith, Wellesley, Diana, Greenlees, Ruth, Addor, Marie-Claude, Arriola, Larraitz, de Walle, Hermien, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Calzol

Journal:

Archives of Disease in Childhood - Fetal and Neonatal Edition

Year:

2015

Language:

english

File:

PDF, 795 KB

english, 2015

43

Epidemiology of hypospadias in Europe: a registry-based study

Bergman, Jorieke E. H., Loane, Maria, Vrijheid, Martine, Pierini, Anna, Nijman, Rien J. M., Addor, Marie-Claude, Barisic, Ingeborg, Béres, Judit, Braz, Paula, Budd, Judith, Delaney, Virginia, Gatt, Mi

Journal:

World Journal of Urology

Year:

2015

Language:

english

File:

PDF, 407 KB

english, 2015

44

Primary Prevention of Congenital Anomalies: Recommendable, Feasible and Achievable

Taruscio, Domenica, Mantovani, Alberto, Carbone, Pietro, Barisic, Ingeborg, Bianchi, Fabrizio, Garne, Ester, Nelen, Vera, Neville, Amanda Julie, Wellesley, Diana, Dolk, Helen

Journal:

Public Health Genomics

Year:

2015

Language:

english

File:

PDF, 88 KB

english, 2015

45

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

Taruscio, Domenica, Arriola, Larraitz, Baldi, Francesca, Barisic, Ingeborg, Bermejo-Sánchez, Eva, Bianchi, Fabrizio, Calzolari, Elisa, Carbone, Pietro, Curran, Rhonda, Garne, Ester, Gatt, Miriam, Lato

Journal:

Public Health Genomics

Year:

2014

Language:

english

File:

PDF, 102 KB

english, 2014

46

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report

Odak, Ljubica, Barišić, Ingeborg, Morožin Pohovski, Leona, Riegel, Mariluce, Schinzel, Albert

Journal:

Croatian Medical Journal

Year:

2011

Language:

english

File:

PDF, 1.12 MB

english, 2011

47

Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency

Dumic, Katja, Yuen, Tony, Grubic, Zorana, Kusec, Vesna, Barisic, Ingeborg, New, Maria I.

Journal:

International Journal of Endocrinology

Year:

2014

Language:

english

File:

PDF, 1.15 MB

english, 2014

48

Long term trends in prevalence of neural tube defects in Europe: population based study

Khoshnood, Babak, Loane, Maria, Walle, Hermien de, Arriola, Larraitz, Addor, Marie-Claude, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Dias, Carlos, Draper, Elizabeth, Garne, Ester, Gatt, Miri

Journal:

Year:

2015

Language:

english

File:

PDF, 365 KB

english, 2015

49

Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study

Garne, Ester, Hansen, Anne Vinkel, Morris, Joan, Zaupper, Louise, Addor, Marie-Claude, Barisic, Ingeborg, Gatt, Miriam, Lelong, Nathalie, Klungsøyr, Kari, O'Mahony, Mary, Nelen, Vera, Neville, Amanda

Journal:

Journal of Allergy and Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 577 KB

english, 2015

50

Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations

Jentink, Janneke, Loane, Maria A., Dolk, Helen, Barisic, Ingeborg, Garne, Ester, Morris, Joan K., den Berg, Lolkje T. W. de Jong-van

Journal:

Obstetric and Gynecologic Survey

Year:

2010

Language:

english

File:

PDF, 657 KB

english, 2010

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