Related references
Note: Only part of the references are listed.Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions
Anna Summerer et al.
HUMAN GENETICS (2019)
Current treatment of congenital pseudarthrosis of the tibia: a systematic review and meta-analysis
Nithin Kesireddy et al.
JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B (2018)
Neurofibromatosis type 1
David H. Gutmann et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
CONGENITAL PSEUDARTHROSIS OF THE TIBIA
Courtney O'Donnell et al.
JBJS REVIEWS (2017)
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Quan Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia
Van Royen Kjell et al.
EUROPEAN JOURNAL OF PEDIATRICS (2016)
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
D. G. Evans et al.
EBIOMEDICINE (2016)
Isolation and Characterization of Multipotential Mesenchymal Stromal Cells from Congenital Pseudoarthrosis of the Tibia: Case Report
Dylana Diaz-Solano et al.
ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases
Hui Yang et al.
NATURE METHODS (2015)
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing
Weihong Xu et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2014)
Neurofibromin Deficiency-Associated Transcriptional Dysregulation Suggests a Novel Therapy for Tibial Pseudoarthrosis in NF1
Nandina Paria et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2014)
MR Findings of the Osteofibrous Dysplasia
Joon-Yong Jung et al.
KOREAN JOURNAL OF RADIOLOGY (2014)
Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1
Jean de la Croix Ndong et al.
NATURE MEDICINE (2014)
Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice
Richa Sharma et al.
HUMAN MOLECULAR GENETICS (2013)
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
Audrey Sabbagh et al.
HUMAN MUTATION (2013)
Approaches to Treating NF1 Tibial Pseudarthrosis: Consensus From the Children's Tumor Foundation NF1 Bone Abnormalities Consortium
David A. Stevenson et al.
JOURNAL OF PEDIATRIC ORTHOPAEDICS (2013)
Controversies in the management of congenital pseudarthrosis of the tibia and fibula
T. Khan et al.
BONE & JOINT JOURNAL (2013)
A regenerative approach for bone repair in congenital pseudarthrosis of the tibia associated or not associated with type 1 neurofibromatosis: correlation between laboratory findings and clinical outcome
Donatella Granchi et al.
CYTOTHERAPY (2012)
Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1?
Sang Min Lee et al.
JOURNAL OF ORTHOPAEDIC RESEARCH (2012)
c-Fms Signaling Mediates Neurofibromatosis Type-1 Osteoclast Gain-In-Functions
Yongzheng He et al.
PLOS ONE (2012)
Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I
Weixi Wang et al.
HUMAN MOLECULAR GENETICS (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
Biological basis for the use of autologous bone marrow stromal cells in the treatment of congenital pseudarthrosis of the tibia
Donatella Granchi et al.
BONE (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Congenital pseudarthrosis of neurofibromatosis type 1: Impaired osteoblast differentiation and function and altered NF1 gene expression
Hannu-Ville Leskela et al.
BONE (2009)
Biologic Characteristics of Fibrous Hamartoma from Congenital Pseudarthrosis of the Tibia Associated with Neurofibromatosis Type 1
Tae-Joon Cho et al.
JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME (2008)
Congenital pseudarthrosis of the tibia
Kelly L. Vander Have et al.
JOURNAL OF THE AMERICAN ACADEMY OF ORTHOPAEDIC SURGEONS (2008)
Multiple roles for neurofibromin in skeletal development and growth
Mateusz Kolanczyk et al.
HUMAN MOLECULAR GENETICS (2007)
ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae
Florent Elefteriou et al.
CELL METABOLISM (2006)
Hyperactivation of p21ras and PI3K cooperate to after murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions
Feng-Chun Yang et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Double inactivation of NF1 in tibial pseudarthrosis
DA Stevenson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Vascular changes in the periosteum of congenital pseudarthrosis of the tibia
B Hermanns-Sachweh et al.
PATHOLOGY RESEARCH AND PRACTICE (2005)
Neurofibromatosis 1: Clinical review and exceptions to the rules
H Young et al.
JOURNAL OF CHILD NEUROLOGY (2002)
Original report - Congenital pseudarthrosis of the tibia in pediatric patients: MR imaging
AH Mahnken et al.
AMERICAN JOURNAL OF ROENTGENOLOGY (2001)
The clinical and diagnostic implications of mosaicism in the neurofibromatoses
M Ruggieri et al.
NEUROLOGY (2001)
Congenital pseudarthrosis of the tibia: History, etiology, classification, and epidemiologic data
F Hefti et al.
JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B (2000)