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1.
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.
Hum Genet
; 142(7): 849-861, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37186028
2.
Neurofibromatosis- and schwannomatosis-associated tumors: Approaches to genetic testing and counseling considerations.
Am J Med Genet A
; 191(10): 2467-2481, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37485904
3.
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
Hum Mutat
; 43(1): 74-84, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34747535
4.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29290338
5.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31595648
6.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Genet Med
; 22(12): 2081-2088, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32773772
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30275510
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30190611
9.
Timing of high-intensity intermittent exercise affects ad libitum energy intake in overweight inactive men.
Appetite
; 143: 104443, 2019 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31494152
10.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26178382
11.
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Genet Med
; 16(6): 448-59, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24232412
12.
Development and validation of an instrument to assess Brazilians' knowledge, perceptions, and behaviors toward salt and sodium.
J Clin Hypertens (Greenwich)
; 24(5): 555-565, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35389562
13.
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.
J Pediatr Genet
; 7(4): 174-179, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30430035
14.
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Nat Genet
; 46(2): 182-7, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24362817
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