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1.
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.
Mol Biol Rep
; 51(1): 399, 2024 Mar 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38456993
2.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genet Med
; 25(4): 100018, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36681873
3.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31353023
4.
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Am J Med Genet A
; 188(4): 1083-1087, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34907639
5.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet
; 14(11): e1007671, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30500825
6.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32427345
7.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32694869
8.
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
Am J Med Genet A
; 179(10): 2119-2123, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31369202
9.
Unique characteristics of informed consent in clinical genetics and genetic counselling.
Cas Lek Cesk
; 158(1): 38-43, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31046391
10.
Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt.
Am J Med Genet A
; 176(12): 2604-2613, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30380201
11.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28735298
12.
[Hereditary breast cancer: genetic etiology and current possibilities of prevention and surgical treatment]. / Hereditární formy karcinomu prsu: genetická etiologie a soucasné moznosti prevence a chirurgické lécby.
Cas Lek Cesk
; 157(2): 90-95, 2018.
Artículo
en Checo
| MEDLINE | ID: mdl-29790359
13.
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Hum Mol Genet
; 24(12): 3335-47, 2015 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25740848
14.
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
BMC Med Genet
; 18(1): 62, 2017 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28576131
15.
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Neuro Endocrinol Lett
; 37(4): 269-276, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27857042
16.
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder.
Sci Rep
; 14(1): 9873, 2024 04 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38684768
17.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38284452
18.
The importance of advanced parental age in the origin of neurofibromatosis type 1.
Am J Med Genet A
; 158A(3): 519-23, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22302476
19.
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
J Community Genet
; 13(3): 313-327, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35523996
20.
Odor detection threshold, but not odor identification, is impaired in children with autism.
Eur Child Adolesc Psychiatry
; 20(7): 333-40, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21528391