Search details
1.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Mol Cell
; 81(22): 4663-4676.e8, 2021 11 18.
Article
in English
| MEDLINE | ID: mdl-34637754
2.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Mol Cell
; 81(22): 4757, 2021 Nov 18.
Article
in English
| MEDLINE | ID: mdl-34798045
3.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Article
in English
| MEDLINE | ID: mdl-37586838
4.
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Am J Med Genet A
; 191(8): 2074-2082, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37194190
5.
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Epilepsy Behav
; 124: 108315, 2021 Oct 04.
Article
in English
| MEDLINE | ID: mdl-34619538
6.
Alazami syndrome: the first case of papillary thyroid carcinoma.
J Hum Genet
; 65(2): 133-141, 2020 Jan.
Article
in English
| MEDLINE | ID: mdl-31656314
7.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33043602
8.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31164752
9.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med
; 20(9): 965-975, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29300384
10.
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Am J Med Genet A
; 176(5): 1166-1174, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29681106
11.
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
Am J Med Genet A
; 176(9): 1991-1995, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30088855
12.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genet Med
; 19(6): 691-700, 2017 06.
Article
in English
| MEDLINE | ID: mdl-27831545
13.
RIN2 syndrome: Expanding the clinical phenotype.
Am J Med Genet A
; 170(9): 2408-15, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27277385
14.
An obturator hernia of the Richter type - a video vignette.
Colorectal Dis
; 23(5): 1284-1285, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33548064
15.
Natural history and life-threatening complications in Myhre syndrome and review of the literature.
Eur J Pediatr
; 175(10): 1307-15, 2016 Oct.
Article
in English
| MEDLINE | ID: mdl-27562837
16.
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.
Am J Med Genet A
; 167A(8): 1902-7, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25846317
17.
Mitotic crossover promotes leukemogenesis in children born with TEL-AML1 via the generation of loss of heterozygosity at 12p.
Pediatr Med Chir
; 37(2): pmc.2015.112, 2015 Jun 30.
Article
in English
| MEDLINE | ID: mdl-26429121
18.
DPF2-related Coffin-Siris syndrome type 7 in two generations.
Eur J Med Genet
; 69: 104945, 2024 Apr 30.
Article
in English
| MEDLINE | ID: mdl-38697389
19.
Wearing surgical face mask has no significant impact on auscultation assessment.
PeerJ
; 12: e17368, 2024.
Article
in English
| MEDLINE | ID: mdl-38803582
20.
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Mol Syndromol
; 15(1): 63-70, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38357260