BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 35713653)

  • 1. Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents.
    Angelova-Toshkina D; Holzapfel J; Huber S; Schimmel M; Wieczorek D; Gnekow AK; Frühwald MC; Kuhlen M
    Genet Med; 2022 Sep; 24(9):1978-1985. PubMed ID: 35713653
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
    Wimmer K; Rosenbaum T; Messiaen L
    Clin Genet; 2017 Apr; 91(4):507-519. PubMed ID: 27779754
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
    Suerink M; Ripperger T; Messiaen L; Menko FH; Bourdeaut F; Colas C; Jongmans M; Goldberg Y; Nielsen M; Muleris M; van Kouwen M; Slavc I; Kratz C; Vasen HF; Brugiѐres L; Legius E; Wimmer K
    J Med Genet; 2019 Feb; 56(2):53-62. PubMed ID: 30415209
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
    Perez-Valencia JA; Gallon R; Chen Y; Koch J; Keller M; Oberhuber K; Gomes A; Zschocke J; Burn J; Jackson MS; Santibanez-Koref M; Messiaen L; Wimmer K
    Genet Med; 2020 Dec; 22(12):2081-2088. PubMed ID: 32773772
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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.
    Evans DG; Bowers N; Burkitt-Wright E; Miles E; Garg S; Scott-Kitching V; Penman-Splitt M; Dobbie A; Howard E; Ealing J; Vassalo G; Wallace AJ; Newman W; ; Huson SM
    EBioMedicine; 2016 May; 7():212-20. PubMed ID: 27322474
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SPRED 1 mutations in a neurofibromatosis clinic.
    Muram-Zborovski TM; Stevenson DA; Viskochil DH; Dries DC; Wilson AR; Rong Mao
    J Child Neurol; 2010 Oct; 25(10):1203-9. PubMed ID: 20179001
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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.
    Kehrer-Sawatzki H; Cooper DN
    Hum Genet; 2022 Feb; 141(2):177-191. PubMed ID: 34928431
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
    Mir A; AlMudhry M; AlOtaibi W; AlHazmi R; AlBaradie R; AlHarbi Q; Bashir S; Chamdine O; Housawi Y
    J Pediatr Hematol Oncol; 2023 Jul; 45(5):e613-e620. PubMed ID: 36897649
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
    Denayer E; Legius E
    Acta Derm Venereol; 2020 Mar; 100(7):adv00093. PubMed ID: 32147744
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
    Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
    JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.
    Ho WY; Farrelly E; Stevenson DA
    Am J Med Genet A; 2022 Sep; 188(9):2584-2589. PubMed ID: 35779212
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
    Stewart DR; Brems H; Gomes AG; Ruppert SL; Callens T; Williams J; Claes K; Bober MB; Hachen R; Kaban LB; Li H; Lin A; McDonald M; Melancon S; Ortenberg J; Radtke HB; Samson I; Saul RA; Shen J; Siqveland E; Toler TL; van Maarle M; Wallace M; Williams M; Legius E; Messiaen L
    Genet Med; 2014 Jun; 16(6):448-59. PubMed ID: 24232412
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.
    Pinti E; Nemeth K; Staub K; Lengyel A; Fekete G; Haltrich I
    BMC Pediatr; 2021 Jul; 21(1):331. PubMed ID: 34325699
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
    Legius E; Messiaen L; Wolkenstein P; Pancza P; Avery RA; Berman Y; Blakeley J; Babovic-Vuksanovic D; Cunha KS; Ferner R; Fisher MJ; Friedman JM; Gutmann DH; Kehrer-Sawatzki H; Korf BR; Mautner VF; Peltonen S; Rauen KA; Riccardi V; Schorry E; Stemmer-Rachamimov A; Stevenson DA; Tadini G; Ullrich NJ; Viskochil D; Wimmer K; Yohay K; ; Huson SM; Evans DG; Plotkin SR
    Genet Med; 2021 Aug; 23(8):1506-1513. PubMed ID: 34012067
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.
    Bernier A; Larbrisseau A; Perreault S
    Pediatr Neurol; 2016 Jul; 60():24-29.e1. PubMed ID: 27212418
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.
    Shapira Rootman M; Goldberg Y; Cohen R; Kropach N; Keidar I; Friedland R; Dotan G; Konen O; Toledano H
    Clin Genet; 2020 Feb; 97(2):296-304. PubMed ID: 31730237
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
    Guerrini-Rousseau L; Pasmant E; Muleris M; Abbou S; Adam-De-Beaumais T; Brugieres L; Cabaret O; Colas C; Cotteret S; Decq P; Dufour C; Guillerm E; Rouleau E; Varlet P; Zili S; Vidaud D; Grill J
    J Med Genet; 2024 Jan; 61(2):158-162. PubMed ID: 37775264
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
    Hirata Y; Brems H; Suzuki M; Kanamori M; Okada M; Morita R; Llano-Rivas I; Ose T; Messiaen L; Legius E; Yoshimura A
    J Biol Chem; 2016 Feb; 291(7):3124-34. PubMed ID: 26635368
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.
    DeBella K; Szudek J; Friedman JM
    Pediatrics; 2000 Mar; 105(3 Pt 1):608-14. PubMed ID: 10699117
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
    Suerink M; Potjer TP; Versluijs AB; Ten Broeke SW; Tops CM; Wimmer K; Nielsen M
    Clin Genet; 2018 Jan; 93(1):134-137. PubMed ID: 28503822
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.