Search details
1.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Genome Res
; 32(7): 1242-1253, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35710300
2.
Use of multiple polygenic risk scores for distinguishing schizophrenia-spectrum disorder and affective psychosis categories in a first-episode sample; the EU-GEI study.
Psychol Med
; 53(8): 3396-3405, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-35076361
3.
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Dig Dis Sci
; 68(10): 3857-3871, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37650948
4.
Omics Technologies Improving Breast Cancer Research and Diagnostics.
Int J Mol Sci
; 24(16)2023 Aug 11.
Article
in English
| MEDLINE | ID: mdl-37628869
5.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33855352
6.
Clinical and Pathological Features of Severe Gut Dysmotility.
Adv Exp Med Biol
; 1383: 9-17, 2022.
Article
in English
| MEDLINE | ID: mdl-36587142
7.
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
Int J Mol Sci
; 22(11)2021 May 29.
Article
in English
| MEDLINE | ID: mdl-34072463
8.
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
FASEB J
; 33(10): 11284-11302, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31314595
9.
Enteric neuron density correlates with clinical features of severe gut dysmotility.
Am J Physiol Gastrointest Liver Physiol
; 317(6): G793-G801, 2019 12 01.
Article
in English
| MEDLINE | ID: mdl-31545923
10.
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Cytogenet Genome Res
; 157(3): 135-140, 2019.
Article
in English
| MEDLINE | ID: mdl-30933954
11.
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer.
Int J Cancer
; 143(7): 1706-1719, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-29672841
12.
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report.
BMC Cancer
; 18(1): 889, 2018 Sep 12.
Article
in English
| MEDLINE | ID: mdl-30208867
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.
Article
in English
| MEDLINE | ID: mdl-25740848
14.
Protective Actions of Epithelial 5-Hydroxytryptamine 4 Receptors in Normal and Inflamed Colon.
Gastroenterology
; 151(5): 933-944.e3, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27480173
15.
Prucalopride exerts neuroprotection in human enteric neurons.
Am J Physiol Gastrointest Liver Physiol
; 310(10): G768-75, 2016 05 15.
Article
in English
| MEDLINE | ID: mdl-26893157
16.
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Gastroenterology
; 148(4): 771-782.e11, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25575569
17.
Enteric neuropathies: Yesterday, Today and Tomorrow.
Adv Exp Med Biol
; 891: 123-33, 2016.
Article
in English
| MEDLINE | ID: mdl-27379640
18.
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors.
BMC Cancer
; 15: 157, 2015 Mar 21.
Article
in English
| MEDLINE | ID: mdl-25880213
19.
The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma.
Int J Cancer
; 134(9): 2098-107, 2014 May 01.
Article
in English
| MEDLINE | ID: mdl-24127282
20.
miRNA-221 and miRNA-483-3p Dysregulation in Esophageal Adenocarcinoma.
Cancers (Basel)
; 16(3)2024 Jan 30.
Article
in English
| MEDLINE | ID: mdl-38339342