Search details
1.
PersonALL: a genetic scoring guide for personalized risk assessment in pediatric B-cell precursor acute lymphoblastic leukemia.
Br J Cancer
; 129(3): 455-465, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37340093
2.
An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient.
Int J Mol Sci
; 23(21)2022 Oct 28.
Article
in English
| MEDLINE | ID: mdl-36361862
3.
Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.
BMC Pediatr
; 21(1): 331, 2021 07 29.
Article
in English
| MEDLINE | ID: mdl-34325699
4.
Comprehensive profiling of disease-relevant copy number aberrations for advanced clinical diagnostics of pediatric acute lymphoblastic leukemia.
Mod Pathol
; 33(5): 812-824, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31857684
5.
What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature.
BMC Pediatr
; 20(1): 17, 2020 01 13.
Article
in English
| MEDLINE | ID: mdl-31931754
6.
Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.
BMC Med Genet
; 19(1): 113, 2018 07 09.
Article
in English
| MEDLINE | ID: mdl-29986653
7.
[Examination of sex chromosome abnormalities in childhood]. / Nemi kromoszóma-rendellenességek vizsgálata gyermekkorban.
Orv Hetil
; 159(27): 1121-1128, 2018 Jul.
Article
in Hungarian
| MEDLINE | ID: mdl-29961370
8.
[Trisomy 9p and clinical heterogeneity: case report of an unusual presentation]. / 9p triszómia és a klinikai sokszínuség: egy váratlan megjelenésu eset ismertetése.
Orv Hetil
; 159(47): 1994-2000, 2018 Nov.
Article
in Hungarian
| MEDLINE | ID: mdl-30474384
9.
[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome]. / Elsodleges genetikai vizsgálat PraderWilli-szindróma igazolására.
Orv Hetil
; 159(2): 64-69, 2018 Jan.
Article
in Hungarian
| MEDLINE | ID: mdl-29307221
10.
[Williams-Beuren syndrome (Williams syndrome). Case report]. / WilliamsBeuren-szindróma (Williams-szindróma).
Orv Hetil
; 158(47): 1883-1888, 2017 Nov.
Article
in Hungarian
| MEDLINE | ID: mdl-29153020
11.
Normal karyotype is a poor prognostic factor in myeloid leukemia of Down syndrome: a retrospective, international study.
Haematologica
; 99(2): 299-307, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-23935021
12.
Hypodiploidy has unfavorable impact on survival in pediatric acute myeloid leukemia: an I-BFM Study Group collaboration.
Blood Adv
; 7(6): 1045-1055, 2023 03 28.
Article
in English
| MEDLINE | ID: mdl-36332007
13.
Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.
J Mol Diagn
; 25(8): 555-568, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37088137
14.
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort.
Mol Cytogenet
; 15(1): 47, 2022 Nov 01.
Article
in English
| MEDLINE | ID: mdl-36320065
15.
Clinical aspects of 22q11.2 microdeletion syndrome / A 22q11.2-microdeletiós szindróma klinikai jellemzoi.
Orv Hetil
; 163(1): 21-30, 2022 01 02.
Article
in Hungarian
| MEDLINE | ID: mdl-34974426
16.
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.
Mol Syndromol
; 12(5): 300-304, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34602957
17.
Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement.
J Genet
; 1002021.
Article
in English
| MEDLINE | ID: mdl-34553698
18.
Generation of multiple iPSC clones from a male schizophrenia patient carrying de novo mutations in genes KHSRP, LRRC7, and KIR2DL1, and his parents.
Stem Cell Res
; 51: 102140, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33503521
19.
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Eur J Med Genet
; 63(10): 104027, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32758661
20.
Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome).
Exp Suppl
; 111: 443-473, 2019.
Article
in English
| MEDLINE | ID: mdl-31588543