Affiliation: University of Zagreb
- Daughter and her mildly affected father with Keipert syndromeMiroslav Dumic
Department of Pediatrics, University Hospital Rebro, Zagreb, Croatia
Am J Med Genet A 140:2488-92. 2006..The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance...
- Successful treatment of diffuse large B-cell non-hodgkin lymphoma with modified CHOP (cyclophosphamide/doxorubicin/vincristine/prednisone) chemotherapy and rituximab in a patient with Nijmegen syndromeMiroslav Dumic
Department of Pediatrics, University Hospital Center Zagreb, Croatia
Clin Lymphoma Myeloma 7:590-3. 2007..He has been in complete remission for 3 years after finishing the treatment...
- Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathyMiroslav Dumic
Division of Endocrinology, Department of Pediatrics, University Hospital Zagreb, Kispaticeva 12, 10 000 Zagreb, Croatia
Eur J Pediatr 170:393-6. 2011..Alacrima as the earliest and most consistent clinical sign should be investigated by Schirmer test. Patients should be regularly tested for adrenal dysfunction to prevent life-threatening adrenal crises...
- [Marden-Walker syndrome--a case report]Miroslav Dumic
Klinika za pedijatriju Medicinskog fakulteta, KBC Zagreb
Lijec Vjesn 131:203-6. 2009..Together with three major and many other clinical signs which confirm the diagnosis, our girl also has a vesicoureteral reflux and umbilical hernia, which have not yet been described in these patients...
- Sialolithiasis with concurrent sialadenitis in an 18-year-old boy with triple A syndromeMiroslav Dumic
Department of Pediatrics, Zagreb University Hospital Center, Kispaticeva, Zagreb, Croatia
J Otolaryngol 36:E98-9. 2007
- Report of fertility in woman with predominantly 46,XY karyotype in family with multiple disorders of sexual development: review of prismatic caseMiroslav Dumic
Department of Pediatric Endocrinology and Diabetes, University Hospital Rebro, Zagreb, Croatia
Mt Sinai J Med 75:168-9. 2008
- Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndromeMiroslav Dumic
Division of Endocrinology, Department of Pediatrics, University Hospital Centre Zagreb, Kispaticeva 12, 10000 Zagreb, Croatia
Eur J Pediatr 171:1453-9. 2012..Triple A syndrome is a progressive debilitating disorder which may seriously affect quality of life and even be life-threatening in patients with severe neurological impairment...
- Five patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (one with associated neuroblastoma) discovered in three generations of one familyNevena Janjanin
Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
Horm Res 67:111-6. 2007..Most patients with 21-hydroxylase deficiency (21-OHD) are compound heterozygous carriers. Their phenotype usually reflects a less severe allelic mutation, although discordance between the genotype and the phenotype has been observed...
- Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in CroatiaKatja K Dumic
Department of Pediatrics, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Zagreb, Croatia Electronic address
J Steroid Biochem Mol Biol 165:51-56. 2017..High frequency of p.R357W mutation was found in Croatian patients with classical 21-OHD. Genotyping of family members discovered new patients and thus avoided pitfalls in genetic counseling when the parents were found to be affected...
- Incidence of type 1 diabetes mellitus in 0 to 14-yr-old children in Croatia--2004 to 2012 studyNataša Rojnić Putarek
Department of Pediatric Endocrinology and Diabetes, University Hospital Zagreb, Zagreb, Croatia
Pediatr Diabetes 16:448-53. 2015..The T1DM incidence in Croatia was 8.87/100.000/yr over 1995-2003, with an annual increase of 9%, which placed Croatia among countries with moderate risk for T1DM...
- Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual developmentMiroslav Dumic
Department of Pediatric Endocrinology and Diabetes, University Hospital Rebro, Zagreb, Croatia 41000
J Clin Endocrinol Metab 93:182-9. 2008....
- Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndromeAnita Spehar Uroic
Department of Pediatrics, University Hospital Centre Zagreb, Kispaticeva 12, Zagreb, 10000, Croatia
Eur J Pediatr 173:529-31. 2014..Including one previously reported patient from Kosovo carrying the same homozygous mutation, there are three WRS patients from this very small, ethnically homogenous region suggesting founder effect in this population...
- Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a caseMiroslav Dumic
Department of Pediatrics, University Hospital Zagreb Rebro, Kispaticeva 12, 10000 Zagreb, Croatia
Am J Med Genet 113:295-7. 2002..Prenatal exposure to methimazole can cause a phenocopy of the syndrome, which was probably the case in the patients reported by Greenberg and Wilson et al...
- Nonclassic 21-hydroxylase deficiency in CroatiaMiroslav Dumic
Department of Pediatrics, University of Zagreb Medical School, Zagreb, Croatia
J Pediatr Endocrinol Metab 17:157-64. 2004..Clinical and genetic analysis confirmed nonclassic 21-OH deficiency in our Croatian sample of ten males and eight females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients...
- Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Martin Zenker
Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
Nat Genet 37:1345-50. 2005..Our findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway...