Search details
1.
Axenfeld-Rieger syndrome: more than meets the eye.
J Med Genet
; 60(4): 368-379, 2023 04.
Article
in English
| MEDLINE | ID: mdl-35882526
2.
Is nuchal translucency of 3.0-3.4 mm an indication for cfDNA testing or microarray? - a multicenter retrospective clinical cohort study.
Fetal Diagn Ther
; 2024 May 30.
Article
in English
| MEDLINE | ID: mdl-38815555
3.
Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome.
Clin Genet
; 102(3): 244-245, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35726688
4.
Stepwise molecular-genetic examination in aborted fetuses.
Ceska Gynekol
; 87(2): 104-110, 2022.
Article
in English
| MEDLINE | ID: mdl-35667861
5.
Monitoring of childhood ALL using BCR-ABL1 genomic breakpoints identifies a subgroup with CML-like biology.
Blood
; 129(20): 2771-2781, 2017 05 18.
Article
in English
| MEDLINE | ID: mdl-28331056
6.
Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.
J Hum Genet
; 63(7): 803-810, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-29636544
7.
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.
Am J Med Genet A
; 176(6): 1438-1442, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29696806
8.
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
J Hum Genet
; 62(3): 431-435, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28003645
9.
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.
Mol Biol Rep
; 44(6): 435-440, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28849415
10.
Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.
Mol Biol Rep
; 44(6): 441, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29019065
11.
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
Am J Med Genet A
; 170(7): 1843-8, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27256633
12.
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
Am J Med Genet A
; 164A(5): 1218-21, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24458596
13.
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
Am J Med Genet A
; 158A(10): 2545-50, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22887642
14.
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant.
J Clin Med
; 11(17)2022 Aug 31.
Article
in English
| MEDLINE | ID: mdl-36079096
15.
Minimal residual disease in BCR::ABL1-positive acute lymphoblastic leukemia: different significance in typical ALL and in CML-like disease.
Leukemia
; 36(12): 2793-2801, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35933523
16.
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
J Clin Neurosci
; 59: 337-339, 2019 Jan.
Article
in English
| MEDLINE | ID: mdl-30446360
17.
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients.
PeerJ
; 7: e7979, 2019.
Article
in English
| MEDLINE | ID: mdl-31741789
18.
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
PeerJ
; 6: e6183, 2019.
Article
in English
| MEDLINE | ID: mdl-30647996
19.
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.
Genet Test Mol Biomarkers
; 22(2): 127-134, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29425068
20.
Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.
Sci Rep
; 7: 39710, 2017 01 05.
Article
in English
| MEDLINE | ID: mdl-28054583