Detalhe da pesquisa
1.
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
J Med Genet
; 61(5): 411-419, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290824
2.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196855
3.
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.
Neuropediatrics
; 54(6): 422-425, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36577449
4.
Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
Fetal Diagn Ther
; 50(2): 92-97, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062278
5.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415748
6.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Am J Med Genet A
; 185(12): 3831-3837, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296525
7.
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Hum Mutat
; 41(1): 222-239, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502745
8.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131162
9.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
10.
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
Childs Nerv Syst
; 36(5): 961-965, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103336
11.
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Hum Mutat
; 40(10): 1690-1699, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31033087
12.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
13.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Brain
; 141(3): 698-712, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365063
14.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(6): 790-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637653
15.
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Am J Hum Genet
; 97(4): 616-20, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365340
16.
Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 20(10): 1236-1245, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323665
17.
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
J Med Genet
; 54(1): 54-62, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600704
18.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
J Med Genet
; 53(2): 98-110, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26502894
19.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
20.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum Mutat
; 37(9): 847-64, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27302555