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1 . Academic Journal
Neurofibromatosis‐ and schwannomatosis‐associated tumors: Approaches to genetic testing and counseling considerations.
저자
by
Goetsch Weisman, Allison
;
Weiss McQuaid, Shelly
;
Radtke, Heather B.
;
Stoll, Jessica
;
Brown, Bryce
, et al.
소스
American Journal of Medical Genetics. Part A; Oct2023, Vol. 191 Issue 10, p2467-2481, 15p
Web of Science
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7 . Academic Journal
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
저자
by
Koczkowska, Magdalena
;
Chen, Yunjia
;
Xie, Jing
;
Callens, Tom
;
Gomes, Alicia
, et al.
소스
Human Genetics
. Jul2023, Vol. 142 Issue 7, p849-861. 13p.
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7 . Book
Chapter 5 - Genetic Testing Techniques
저자
by
Gomes, Alicia
;
Korf, Bruce
.
소스
In
Pediatric Cancer Genetics
2018:47-64
Full Text (ScienceDirect)
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4 . Periodical
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
저자
by
Plotkin, Scott R.
;
Messiaen, Ludwine
;
Legius, Eric
;
Pancza, Patrice
;
Avery, Robert A.
, et al.
소스
Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1967-1977, 11p
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7 . Academic Journal
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience.
저자
by
Piotrowski, Arkadiusz
;
Koczkowska, Magdalena
;
Poplawski, Andrzej B.
;
Bartoszewski, Rafał
;
Króliczewski, Jarosław
, et al.
소스
Human Mutation; Jan2022, Vol. 43 Issue 1, p74-84, 11p
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7 . Periodical
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
저자
by
Legius, Eric
;
Messiaen, Ludwine
;
Wolkenstein, Pierre
;
Pancza, Patrice
;
Avery, Robert A.
, et al.
소스
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1506-1513, 8p
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7 . Book
Capítulo 5 - Técnicas de pruebas genéticas
저자
by
Gomes, Alicia
;
Korf, Bruce
.
소스
In
Genética del cáncer pediátrico
2018:47-64
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4 . Academic Journal
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.
저자
by
Koczkowska, Magdalena
;
Callens, Tom
;
Chen, Yunjia
;
Gomes, Alicia
;
Hicks, Alesha D.
, et al.
소스
Human Mutation; Jan2020, Vol. 41 Issue 1, p299-315, 17p
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7 . Academic Journal
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
저자
by
Perez-Valencia, Juan A.
;
Gallon, Richard
;
Chen, Yunjia
;
Koch, Jakob
;
Keller, Markus
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 22(12):2081-2088
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7 . Academic Journal
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848.
저자
by
Koczkowska, Magdalena
;
Chen, Yunjia
;
Callens, Tom
;
Gomes, Alicia
;
Sharp, Angela
, et al.
소스
American Journal of Human Genetics
. Jan2018, Vol. 102 Issue 1, p69-87. 19p.
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