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Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion
Author / Creator:van Schie, Janne J. M. ; Faramarz, Atiq ; Balk, Jesper A. ; Stewart, Grant S. ; Cantelli, Erika ; Oostra, Anneke B. ; Rooimans, Martin A. ; Parish, Joanna L. ; de Almeida Estéves, Cynthia ; Dumic, Katja ; Barisic, Ingeborg ; Diderich, Karin E. M. ; van Slegtenhorst, Marjon A. ; Mahtab, Mohammad ; Pisani, Francesca M. ; te Riele, Hein ; Ameziane, Najim ; Wolthuis, Rob M. F. ; de Lange, Job
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-08, Vol.11 (1), p.4287-4287, Article 4287
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Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy
Author / Creator:Dohr, Katrin A ; Tokic, Silvija ; Gastager-Ehgartner, Magdalena ; Stojakovic, Tatjana ; Dumic, Miroslav ; Plecko, Barbara ; Dumic, Katja K
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-03, Vol.24 (6), p.5957
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Metabolic Syndrome Spectrum in Children with Classic Congenital Adrenal Hyperplasia-A Comprehensive Review
Author / Creator:Panic Zaric, Sanja ; Milenkovic, Tatjana ; Todorovic, Sladjana ; Mitrovic, Katarina ; Cvetkovic, Dimitrije ; Cehic, Maja ; Vekic, Jelena ; Dumic, Katja ; Vukovic, Rade
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2025-02, Vol.15 (2), p.89
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Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability
Author / Creator:Pohovski, Leona Morozin ; Dumic, Katja K ; Odak, Ljubica ; Barisic, Ingeborg
Publisher:England: BioMed Central
Journal title:Molecular cytogenetics, 2013-02, Vol.6 (1), p.7-7
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Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method
Author / Creator:Sansovic, Ivona ; Barisic, Ingeborg ; Dumic, Katja
Publisher:Boston: Springer US
Journal title:Biochemical genetics, 2013-04, Vol.51 (3-4), p.189-201
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Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
Author / Creator:Barisic, Ingeborg ; Kusec, Vesna ; Grubic, Zorana ; Yuen, Tony ; Dumic, Katja ; New, Maria I.
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:International Journal of Endocrinology, 2014-01, Vol.2014 (2014), p.202-207-021
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Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other
Author / Creator:Dumic, Katja ; Wilson, Robert ; Thanasawat, Pavinee ; Grubic, Zorana ; Kusec, Vesna ; Stingl, Katarina ; New, Maria I.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2010-07, Vol.169 (7), p.891-894
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208 Use of GLP-1 analog in a patient with prader-willi syndrome
Author / Creator:Duje, Braovac ; Nevena, Krnić ; Katja, Dumić Kubat ; Anita, Špehar Uroić ; Igor, Marjanac ; Jurica, Vuković
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A88-A88
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Two Single Nucleotide Deletions in the IABCD1/I Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy
Author / Creator:Dohr, Katrin A ; Tokic, Silvija ; Gastager-Ehgartner, Magdalena ; Stojakovic, Tatjana ; Dumic, Miroslav ; Plecko, Barbara ; Dumic, Katja K
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2023-03, Vol.24 (6)
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88 Lowe syndrome – old and new evidence of secondary mitochondrial dysfunction
Author / Creator:Kubat, Katja Dumic ; Anticevic, Darko ; Petrinovic-Doresic, Jelena ; Zigman, Tamara ; Zarković, Kamelija ; Melša, Matea ; Vugrek, Oliver
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A37-A37
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Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Author / Creator:Khattab, Ahmed ; Haider, Shozeb ; Kumar, Ameet ; Dhawan, Samarth ; Alam, Dauood ; Romero, Raquel ; Burns, James ; Li, Di ; Estatico, Jessica ; Rahi, Simran ; Fatima, Saleel ; Alzahrani, Ali ; Hafez, Mona ; Musa, Noha ; Azar, Maryam Razzghy ; Khaloul, Najoua ; Gribaa, Moez ; Saad, Ali ; Charfeddine, Ilhem Ben ; de Mendonça, Berenice Bilharinho ; Belgorosky, Alicia ; Dumic, Katja ; Dumic, Miroslav ; Aisenberg, Javier ; Kandemir, Nurgun ; Alikasifoglu, Ayfer ; Ozon, Alev ; Gonc, Nazli ; Cheng, Tina ; Kuhnle-Krahl, Ursula ; Cappa, Marco ; Holterhus, Paul-Martin ; Nour, Munier A. ; Pacaud, Daniele ; Holtzman, Assaf ; Li, Sun ; Zaidi, Mone ; Yuen, Tony ; New, Maria I.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-03, Vol.114 (10), p.E1933-E1940
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Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
Author / Creator:Andrews, Afiya ; Maharaj, Avinaash ; Cottrell, Emily ; Chatterjee, Sumana ; Shah, Pratik ; Denvir, Louise ; Dumic, Katja ; Bossowski, Artur ; Mushtaq, Talat ; Vukovic, Rade ; Didi, Mohamed ; Shaw, Nick ; Metherell, Louise A ; Savage, Martin O ; Storr, Helen L
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2021-11, Vol.106 (11), p.e4716-e4733
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Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11[Beta]-hydroxylase deficiency
Author / Creator:Khattab, Ahmed ; Haider, Shozeb ; Kumar, Ameet ; Dhawan, Samarth ; Alam, Dauood ; Romero, Raquel ; Burns, James ; Li, Di ; Estatico, Jessica ; Rahi, Simran ; Fatima, Saleel ; Alzahrani, Ali ; Hafez, Mona ; Musa, Noha ; Azar, Maryam Razzghy ; Khaloul, Najoua ; Gribaa, Moez ; Saad, Ali ; Charfeddine, Ilhem Ben ; de Mendonça, Berenice Bilharinho ; Belgorosky, Alicia ; Dumic, Katja ; Dumic, Miroslav ; Aisenberg, Javier ; Kandemir, Nurgun ; Alikasifoglu, Ayfer ; Ozon, Alev ; Gonc, Nazli ; Cheng, Tina ; Kuhnle-Krahl, Ursula ; Cappa, Marco ; Holterhus, Paul-Martin ; Nour, Munier A ; Pacaud, Daniele ; Holtzman, Assaf ; Li, Sun ; Zaidi, Mone ; Yuen, Tony ; New, Maria I
Publisher:Washington: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-03, Vol.114 (10), p.E1933
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Two novel CYP11B1 gene mutations in patients from two Croatian families with 11[beta]-hydroxylase deficiency
Author / Creator:Dumic, Katja ; Yuen, Tony ; Grubic, Zorana ; Kusec, Vesna ; Barisic, Ingeborg ; New, Maria I
Publisher:John Wiley & Sons, Inc
Journal title:International journal of endocrinology, 2014-01
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Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Author / Creator:Tahirovic, Husref ; Toromanovic, Alma ; Grubic, Marina ; Grubic, Zorana ; Dumic, Katja
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2009-07, Vol.168 (7), p.847-849
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Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient
Author / Creator:Dumic, Katja ; Barisic, Ingeborg ; Potocki, Kristina ; Sansovic, Ivona
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of applied genetics, 2011-05, Vol.52 (2), p.209-212
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Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia between 1995 and 2006
Author / Creator:Dumic, Katja ; Krnic, Nevena ; Skrabic, Veselin ; Stipancic, Gordana ; Cvijovic, Katarina ; Kusec, Vesna ; Stingl, Katarina
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2009-01, Vol.72 (5), p.310-314
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222 Van Wyk-grumbach syndrome – a rare manifestation of untreated primary hypothyroidism
Author / Creator:Vinković, Maja ; Krnić, Nevena ; Uroić, Anita Špehar ; Kušec, Vesna ; Braovac, Duje ; Kubat, Katja Dumić
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A93-A94
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Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia between 1995 and 2006
Author / Creator:Dumic, Katja ; Krnic, Nevena ; Skrabic, Veselin ; Stipancic, Gordana ; Cvijovic, Katarina ; Kusec, Vesna ; Stingl, Katarina
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2009-01, Vol.72 (4), p.247-251
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122 Multiple intestinal atresia with combined immunodeficiency due to TTC7A gene mutation – case report
Author / Creator:Vukšić, Iva ; Kubat, Katja Dumić ; Ćaleta, Tomislav ; Matić, Toni ; Cigrovski, Nevenka ; Kelečić, Jadranka ; Pasini, Miram ; Luetić, Tomislav ; Vuković, Jurica ; Dessardo, Nada Sindičić ; Grizelj, Ruža
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A51-A52
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Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

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Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy

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Metabolic Syndrome Spectrum in Children with Classic Congenital Adrenal Hyperplasia-A Comprehensive Review

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Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability

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

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

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Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other

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208 Use of GLP-1 analog in a patient with prader-willi syndrome

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Two Single Nucleotide Deletions in the IABCD1/I Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy

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88 Lowe syndrome – old and new evidence of secondary mitochondrial dysfunction

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Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

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Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

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Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11[Beta]-hydroxylase deficiency

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Two novel CYP11B1 gene mutations in patients from two Croatian families with 11[beta]-hydroxylase deficiency

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Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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

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Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia between 1995 and 2006

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222 Van Wyk-grumbach syndrome – a rare manifestation of untreated primary hypothyroidism

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Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia between 1995 and 2006

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122 Multiple intestinal atresia with combined immunodeficiency due to TTC7A gene mutation – case report

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