Detalles de la búsqueda
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet;
32(14): 2373-2385, 2023 07 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37195288
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37586838
3.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med;
25(9): 100883, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37154149
4.
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Am J Med Genet A;
191(1): 29-36, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36177608
5.
Potential added value of combined DPYD/DPD genotyping and phenotyping to prevent severe toxicity in patients with a DPYD variant and decreased dihydropyrimidine dehydrogenase enzyme activity.
J Oncol Pharm Pract;
29(1): 5-13, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34797200
6.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet;
104(5): 914-924, 2019 05 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30982611
7.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med;
24(6): 1283-1296, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35346573
8.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med;
24(10): 2051-2064, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35833929
9.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis;
45(4): 663-681, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35506430
10.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A;
185(11): 3446-3458, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34436830
11.
From man to fly - convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes.
J Child Psychol Psychiatry;
61(5): 545-555, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31849056
12.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet;
181(4): 557-564, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31721432
13.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet;
98(3): 541-552, 2016 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26942287
14.
Phenotype delineation of ZNF462 related syndrome.
Am J Med Genet A;
179(10): 2075-2082, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31361404
15.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Am J Hum Genet;
97(3): 493-500, 2015 Sep 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26340335
16.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med;
25(11): 100962, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37658852
17.
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Am J Med Genet A;
173(7): 1813-1820, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28513979
18.
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
Am J Med Genet A;
173(7): 1821-1830, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28498556
19.
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Genet Med;
18(11): 1158-1162, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-26963285
20.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
J Med Genet;
50(12): 802-11, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24123876