Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Mužinić, Dubravka"'
Autor:
Huljev Frković, Sanda, Tonković Đurišević, Ivana, Lasan Trčić, Ružica, Sarnavka, Vladimir, Crkvenac Gornik, Kristina, Mužinić, Dubravka, Letica, Ljiljana, Barić, Ivo, Begović, Davor
Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i(12)(p10) chromosome in fibroblasts. The syndrome presents with a recognizable pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______579::7fc77b7a67b71b16089bbc5df7cce0b4
https://hrcak.srce.hr/51272
https://hrcak.srce.hr/51272
Autor:
Huljev Frković, Sanda, Tonković Đurišević, Ivana, Lasan Trčić, Ružica, Sarnavka, Vladimir, Crkvenac Gornik, Kristina, Mužinić, Dubravka, Letica, Ljiljana, Barić, Ivo, Begović, Davor
Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i(12)(p10) chromosome in fibroblasts. The syndrome presents with a recognizable pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::5dfa695463b172e6c28b62e60eef19d1
https://www.bib.irb.hr/464335
https://www.bib.irb.hr/464335
Autor:
Tonković Đurišević, Ivana, Crkvenac Gornik, Kristina, Mužinić, Dubravka, Letica, Ljiljana, Lasan, Ružica, Begović, Davor
Spontaneous abortion is defined as the termination of pregnancy before 20th weeks of gestation or below a fetal weight of 500 grams. A total of 321 cases of first trimester spontaneous abortions between 4 and 13 weeks of gestation were analyzed cytog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::07cf11225ebb46d3c8a07c10904a17c9
https://www.bib.irb.hr/274592
https://www.bib.irb.hr/274592
Autor:
Crkvenac-Gornik Kristina, Grubić Zorana, Štingl Katarina, Tonković-Đurišević Ivana, Letica Ljiljana, Mužinić Dubravka, Brkljačić-Kerhin Vesna, Begović Davor
In this study we reported the results for the first time of applying Polymerase Chain Reaction-Short Tandem Repeats (PCR-STR) method in the field of detection of aneuploidies for chromosomes 21 and 18 in Croatians. The aims of the study were: (I) val
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::342964217af9160f11ff922ca6918d00
https://www.bib.irb.hr/267991
https://www.bib.irb.hr/267991
Autor:
Lasan, Ružica, Letica, Ljiljana, Crkvenac Gornik, Kristina, Tonković Đurišević, Ivana, Mužinić, Dubravka, Begović, Davor
Translocation of 15q11 on to autosomes is a relatively common event, which has no adverse clinical consequence. We report here a case of familial dic (4 ; 15) associated with a severe phenotypic effect. A female neonate who presented with convulsions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::aa82d64de045fb73ebae8c13f7da0634
https://www.bib.irb.hr/210100
https://www.bib.irb.hr/210100
Autor:
Lasan, Ružica, Letica, Ljiljana, Crkvenac Gornik, Kristina, Tonković Đurišević, Ivana, Mužinić, Dubravka, Begović, Davor
Most cases of familial pericentric inversions are detected following the birth of an abnormal child owing to an unbalanced recombinant chromosome, forming after crossing-over in a meiotic inversion loop. Deletions or duplications of different but cyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::bf8975ea70f88cce43eb196ed70c305a
https://www.bib.irb.hr/210909
https://www.bib.irb.hr/210909
Autor:
Tonković Đurišević, Ivana, Crkvenac Gornik, Kristina, Letica, Ljiljana, Lasan, Ružica, Huljev, Sanda, Mužinić, Dubravka, Begović, Davor
A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with partial trisomy 15q and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::ae502c95f215a0f3f368ac0933fd370a
https://www.bib.irb.hr/210887
https://www.bib.irb.hr/210887
Autor:
Crkvenac Gornik, Kristina, Tonković Đurišević, Ivana, Mužinić, Dubravka, Letica, Ljiljana, Lasan, Ružica, Begović, Davor
Here we describe a case of a boy with 46, XY, der(15), t(15 ; 16)(q26 ; q22) karyotype which resulted from familial balanced translocation involving the terminal regions of 15q and 16q segregating in three generations. The child died at the age of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::a5200ea7b88d3ebf61832ae783047feb
https://www.bib.irb.hr/210901
https://www.bib.irb.hr/210901
Autor:
Crkvenac Gornik, Kristina, Tonković Đurišević, Ivana, Letica, Ljiljana, Lasan, Ružica, Huljev, Sanda, Mužinić, Dubravka, Begović, Davor
We report a case of mosaic trisomy 3 in a one year old boy. He is the .fth child of normal, healthy parents with normal karyotypes. Cytogenetic analysis of blood lymphocytes was done for evaluation of dysmorphic features. Chromosome analysis of blood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::590440745e67567739d0c59eba9b4e88
https://www.bib.irb.hr/210061
https://www.bib.irb.hr/210061
Autor:
Tonković Đurišević , Ivana, Crkvenac Gornik, Kristina, Mužinić, Dubravka, Letica, Ljiljana, Lasan, Ružica, Begović, Davor
We report one case of a maternal double reciprocal translocation 46, X X, t(4 ; 11)(q31 ; q23), t(5 ; 8)(q35 ; q22) ascertainment through an offspring with partial trisomy 11q and partial monosomy 4q, karyotype of 46, XX, der(4)t(4 ; 11)(q31 ; q23),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::5ed2e1bc9b31b43ea51ed1ab43599bcc
https://www.bib.irb.hr/210041
https://www.bib.irb.hr/210041