Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients-Reference-Cited by-同舟云学术

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients

Published:2021-04-20 Issue:5 Volume:85 Page:155-165
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Güneş Nilay¹,Yeşil Gözde²,Geyik Filiz¹,Kasap Büşra¹,Celkan Tiraje³,Kebudi Rejin⁴,Tüysüz Beyhan¹

Affiliation:

1. Cerrahpaşa Medical Faculty, Department of Pediatric Genetics Istanbul University‐Cerrahpaşa Istanbul Turkey

2. Faculty of Medicine, Department of Medical Genetics Bezmialem Vakif University Istanbul Turkey

3. Cerrahpaşa Medical Faculty, Department of Pediatric Oncology Istanbul University‐Cerrahpaşa Istanbul

4. Department of Pediatric Oncology Istanbul University Oncology Institute Istanbul Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12422

Reference30 articles.

1. Phenotype–Genotype Correlation in Children with Neurofibromatosis Type 1

2. Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient;Basaran S. Y.;Genetic Counseling,2010

3. 126 novel mutations in Italian patients with neurofibromatosis type 1

4. Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

5. Rhabdomyosarcomas in children with neurofibromatosis type I: A national historical cohort

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations;Frontiers in Oncology;2024-08-27

2. Nörofibromatozis tip 1 yeni tanı kriterlerine sahip çocukluk çağındaki hastaların klinik ve moleküler özellikleri;Ege Tıp Dergisi;2024-03-19

3. Genotype–phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort;Journal of Neurology;2023-12-14

4. Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants;Pediatric Neurology;2023-12

5. Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center;International Journal of Developmental Neuroscience;2023-06-06