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...
- 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
- 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...
- 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...
- 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..Progressive natural course of the disease 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...
- 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....
- 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...