Detalhe da pesquisa
1.
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Hum Reprod;
38(3): 511-519, 2023 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36625546
2.
Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing.
Hum Reprod;
35(3): 718-726, 2020 03 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32198505
3.
Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
Acta Derm Venereol;
100(7): adv00093, 2020 Mar 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32147744
4.
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Pediatr Dermatol;
37(5): 890-895, 2020 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32662096
5.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med;
21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30275510
6.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med;
21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30190611
7.
Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M.
Hum Reprod;
33(12): 2302-2311, 2018 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30383227
8.
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Nat Genet;
39(9): 1120-6, 2007 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17704776
9.
Legius syndrome in fourteen families.
Hum Mutat;
32(1): E1985-98, 2011 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21089071
10.
Observations on intelligence and behavior in 15 patients with Legius syndrome.
Am J Med Genet C Semin Med Genet;
157C(2): 123-8, 2011 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21495177
11.
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Genes Chromosomes Cancer;
49(3): 242-52, 2010 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19953625
12.
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
Ophthalmic Genet;
42(4): 480-485, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33955814
13.
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
NPJ Genom Med;
6(1): 81, 2021 Oct 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34620870
14.
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.
Eur J Med Genet;
63(5): 103875, 2020 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32058062
15.
Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.
J Oncol;
2020: 9873954, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32655641
16.
Spred1 is required for synaptic plasticity and hippocampus-dependent learning.
J Neurosci;
28(53): 14443-9, 2008 Dec 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19118178
17.
Pathogenesis of vestibular schwannoma in ring chromosome 22.
BMC Med Genet;
10: 97, 2009 Sep 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19772601
18.
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
JAMA;
302(19): 2111-8, 2009 Nov 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19920235
19.
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
Hum Mutat;
29(2): 232-9, 2008 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17979197
20.
Nevus anemicus and RASopathies.
JAAD Case Rep;
4(4): 390-391, 2018 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29693080