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Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.
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57
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Brunner HG...Hamel BC
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8357027 |
1993 |
2 |
Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage.
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57
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Charrow J...Ward K
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8456833 |
1993 |
3 |
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.
5
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Zheng Y...Hu Z
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2022 |
4 |
Familial café au lait spots: a variant of neurofibromatosis type 1.
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6 |
Diagnostic value of the café-au-lait spot in children.
57
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A novel NF1 mutation in a pediatric patient with renal artery aneurysm.
62
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36411470 |
2022 |
8 |
An unusual case of pediatric embryonal rhabdomyosarcoma with subsequent diagnosis of neurofibromatosis type 1.
62
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Spurr A...Gavigan G
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35504621 |
2022 |
9 |
Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report.
62
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Dong MJ...Liu H
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35801779 |
2022 |
10 |
Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.
62
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34967012 |
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Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report.
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Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature.
62
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34862352 |
2022 |
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Endovascular Repair for Abdominal Aortic Aneurysm Rupture With Neurofibromatosis Type 1.
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14 |
Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1.
62
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El Qadiry R...Ait Sab I
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35463623 |
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15 |
Primary pilocytic astrocytoma of the cerebellopontine angle in pediatric patient with neurofibromatosis type 1: a case report.
62
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Zakaria Z...Rahman NAA
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16 |
A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I.
62
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Tsuchiya T...Umemura T
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17 |
A Shepherd's Crook Deformity of Proximal Femur Treated by Valgus Osteotomy and Bone Grafting.
62
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Pathak SK...Jain A
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34430101 |
2021 |
18 |
A case of intramandibular neurofibroma resembling a radicular cyst in a neurofibromatosis type 1 patient.
62
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Kunisada Y...Sasaki A
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33878668 |
2021 |
19 |
Glioblastoma in a female neurofibromatosis 1 patient without IDH1, BRAF V600E, and TERT promoter mutations: A case report.
62
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Cai JW...You HH
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Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.
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Sag E...Cakir M
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Neurofibromatosis type 1 associated with hypophosphatemic osteomalacia due to hypersecretion of fibroblast growth factor 23: a case report.
62
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32384911 |
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[A Case of Neurofibromatosis Type 1 Presenting Voiding Symptoms Caused by Giant Bladder Diverticulum].
62
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Maesaka F...Momose H
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23 |
Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.
62
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Chiu C...Hoell JI
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30680470 |
2019 |
24 |
miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes.
62
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de Carvalho JB...de Vasconcelos ATR
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31798637 |
2019 |
25 |
Endovascular management of renal artery aneurysms induced by neurofibromatosis type 1: A case report.
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26 |
A Case of Retroperitoneal Malignant Triton Tumor in a Nigerian Boy.
62
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Ugwu JO...Osuigwe OA
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2017 |
27 |
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.
62
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28 |
Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot.
62
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Neri I...Patrizi A
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29 |
Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2.
62
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Rishi P...Verma A
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27958212 |
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30 |
Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1.
62
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27469520 |
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31 |
Development of mediastinal lymphoma after radiotherapy for concurrent medulloblastoma and PNET in a patient with Gorlin syndrome.
62
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32 |
Zollinger-Ellison Syndrome Associated with von Recklinghausen Disease: Case Report and Literature Review.
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27292293 |
2016 |
33 |
[Molecular analysis of two pediatric cases with sporadic neurofibromatosis type 1].
62
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Zhang J...Yao Z
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34 |
Synchronous glioblastoma and medulloblastoma in a child with mismatch repair mutation.
62
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26293676 |
2016 |
35 |
Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.
62
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Waheed W...Tandan R
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26531733 |
2015 |
36 |
A rare case of neurofibromatosis - type 1.
62
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26425173 |
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37 |
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
62
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Zhang J...Yao Z
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26056819 |
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38 |
Lumbar lipomeningomyelocele associated with multiple café au lait spots: a case report.
62
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25786983 |
2015 |
39 |
Unusual histological variant of malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation.
62
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Shete S...Ingle SB
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25879014 |
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40 |
Legius syndrome: case report and review of literature.
62
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41 |
Coexistence of multiple rare spinal abnormalities in type 1 neurofibromatosis: a case report and literature review.
62
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Zhao CM...Yang HL
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26770321 |
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42 |
Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.
62
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[A novel neurocutaneous syndrome: Legius syndrome. A case report].
62
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44 |
Transoral removal of a large parapharyngeal space neurofibroma with the Harmonic Scalpel.
62
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Marjanovic Kavanagh M...Prgomet D
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45 |
Renal artery stenosis due to neurofibromatosis type 1: case report and literature review.
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Duan L...Liang Z
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46 |
Multiple café au lait spots in familial patients with MAP2K2 mutation.
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Laryngeal plexiform neurofibroma in a child.
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48 |
Multiple gastrointestinal stromal tumors and pheochromocytoma in a patient with von Recklinghausen's disease.
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49 |
Review and update of SPRED1 mutations causing Legius syndrome.
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Brems H...Messiaen L
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2012 |
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Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.
62
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Cerbone M...Brunetti-Pierri N
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22786748 |
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