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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513

2021

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A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

Journal of pediatric genetics (Birmingham, Ala.), 2018-12, Vol.7 (4), p.174-179

2018

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Depression and suicide risk among nursing professionals: an integrative review

Revista da Escola de Enfermagem da U S P, 2015-12, Vol.49 (6), p.1027-1031

2015

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Development and validation of an instrument to assess Brazilians’ knowledge, perceptions, and behaviors toward salt and sodium

The journal of clinical hypertension (Greenwich, Conn.), 2022-05, Vol.24 (5), p.555-565

2022

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eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients with schwannomatosis in the UAB cohort

Genetics in medicine, 2022-03, Vol.24 (3), p.S206-S207

2022

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Timing of high-intensity intermittent exercise affects ad libitum energy intake in overweight inactive men

Appetite, 2019-12, Vol.143, p.104443-104443, Article 104443

2019

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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

Human genetics, 2023-07, Vol.142 (7), p.849-861

2023

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

American journal of human genetics, 2018-01, Vol.102 (1), p.69-87

2018

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human mutation, 2015-11, Vol.36 (11), p.1052-1063

2015

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Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 19a

Cancers, 2024-06, Vol.16 (13)

2024

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Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]

Cancers, 2024-06, Vol.16 (13), p.2406

2024

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Neurofibromatosis- and schwannomatosis- associated tumors: Approaches to genetic testing and counseling considerations

American journal of medical genetics. Part A, 2023-10, Vol.191 (10), p.2467-2481

2023

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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

Genetics in medicine, 2019-04, Vol.21 (4), p.867-876

2019

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Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

Genetics in medicine, 2020-12, Vol.22 (12), p.2081-2088

2020

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Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience

Human mutation, 2022-01, Vol.43 (1), p.74-84

2022

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Intercropping of beet with salad rocket (Eruca sativa) using hairy woodrose (Merremia aegyptia) plus manure goat in loam argisol yellow red latosol

Australian journal of crop science, 2020-10 (14(10):2020), p.1675-1681

2020

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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Energy intake post-exercise is associated with enjoyment independently of exercise intensity

Sport sciences for health, 2018-12, Vol.14 (3), p.511-516

2018

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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

Genetics in medicine, 2019-03, Vol.21 (3), p.764-765

2019

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TELE-SURGERY: REMOTE SURGERY/ TELECIRURGIA: A CIRURGIA A DISTANCIA/ TELECIRUGIA: CIRUGIA A DISTANCIA

Revista Foco, 2024-08, Vol.17 (8)

2024

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Optimum plot size for field experiments in sesame

Australian journal of crop science, 2020-12 (14(12):2020), p.1957-1960

2020

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Depression and suicide risk among nursing professionals: an integrative review

Development and validation of an instrument to assess Brazilians’ knowledge, perceptions, and behaviors toward salt and sodium

eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients with schwannomatosis in the UAB cohort

Timing of high-intensity intermittent exercise affects ad libitum energy intake in overweight inactive men

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

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 19a

Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]

Neurofibromatosis- and schwannomatosis- associated tumors: Approaches to genetic testing and counseling considerations

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

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience

Intercropping of beet with salad rocket (Eruca sativa) using hairy woodrose (Merremia aegyptia) plus manure goat in loam argisol yellow red latosol

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Energy intake post-exercise is associated with enjoyment independently of exercise intensity

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

TELE-SURGERY: REMOTE SURGERY/ TELECIRURGIA: A CIRURGIA A DISTANCIA/ TELECIRUGIA: CIRUGIA A DISTANCIA

Optimum plot size for field experiments in sesame

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