Detalles de la búsqueda
1.
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Clin Genet
; 105(5): 581-583, 2024 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38379111
2.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37586840
3.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36999555
4.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37580112
5.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113008
6.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33833411
7.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clin Genet
; 99(3): 407-417, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33277917
8.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32277047
9.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32409512
10.
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
Am J Med Genet C Semin Med Genet
; 184(1): 129-135, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31965688
11.
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Hum Genet
; 139(11): 1381-1390, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32399599
12.
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.
Biochem Biophys Res Commun
; 530(3): 520-526, 2020 09 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-32620236
13.
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
Genet Med
; 21(11): 2504-2511, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31036916
14.
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Br J Dermatol
; 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38623710
15.
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Genet Med
; 20(6): 645-654, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29095811
16.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1585, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34257424
17.
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Eur J Hum Genet
; 32(2): 200-208, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37853102
18.
Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.
Eur J Med Genet
; 66(2): 104678, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36503153
19.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Eur J Hum Genet
; 31(7): 761-768, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36450799
20.
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Oncotarget
; 14: 111-125, 2023 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36749285