Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1479-7364
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene ; volume:17 ; number:1 ; day:20 ; month:2 ; year:2023 ; pages:1-6 ; date:12.2023
Human genomics ; 17, Heft 1 (20.2.2023), 1-6, 12.2023
- Urheber
-
Dalili, Setila
Hoseini Nouri, Seyyedeh Azade
Bayat, Reza
Koohmanaee, Shahin
Tabrizi, Manijeh
Zarkesh, Marjaneh
Tarang, Alireza
Mahdieh, Nejat
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s40246-023-00460-0
- URN
-
urn:nbn:de:101:1-2023042621011616899999
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 11:00 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Dalili, Setila
- Hoseini Nouri, Seyyedeh Azade
- Bayat, Reza
- Koohmanaee, Shahin
- Tabrizi, Manijeh
- Zarkesh, Marjaneh
- Tarang, Alireza
- Mahdieh, Nejat
- SpringerLink (Online service)
Ähnliche Objekte (12)
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report
Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?
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
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches
Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report
Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?
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
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches
Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report
Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?
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
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches
Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)