Detalhe da pesquisa
1.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
2.
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Mol Vis
; 27: 457-465, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321860
3.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Am J Med Genet A
; 185(4): 1195-1203, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33421337
4.
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
J Med Genet
; 56(2): 104-112, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352868
5.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Hum Mutat
; 40(2): 193-200, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30412329
6.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996
7.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349098
8.
A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management.
Gynecol Endocrinol
; 35(11): 999-1002, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187634
9.
Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.
J Clin Immunol
; 38(4): 538, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728794
10.
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.
J Clin Immunol
; 37(2): 133-142, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28000062
11.
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
BMC Cancer
; 17(1): 239, 2017 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376765
12.
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
Am J Med Genet A
; 173(1): 72-78, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27612309
13.
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Am J Med Genet A
; 173(5): 1364-1368, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28332779
14.
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
J Med Genet
; 52(5): 312-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25670821
15.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23906836
16.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet
; 134(6): 553-68, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724810
17.
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
J Clin Immunol
; 35(6): 538-49, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26271390
18.
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Pediatr Nephrol
; 30(6): 931-43, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480730
19.
Polish activity within Orphanet Europe--state of art of database and services.
Dev Period Med
; 19(4): 536-41, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982769
20.
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
Am J Hum Genet
; 86(2): 262-6, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20137776