BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 28471035)

  • 1. ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
    Nizon M; Küry S; Péréon Y; Besnard T; Quinquis D; Boisseau P; Marsaud T; Magot A; Mussini JM; Mayrargue E; Barbarot S; Bézieau S; Isidor B
    Clin Genet; 2018 Jan; 93(1):169-172. PubMed ID: 28471035
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
    Wakil SM; Alhissi S; Al Dossari H; Alqahtani A; Shibin S; Melaiki BT; Finsterer J; Al-Hashem A; Bohlega S; Alazami AM
    BMC Med Genet; 2019 Jul; 20(1):119. PubMed ID: 31272422
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
    Kurth I; Baumgartner M; Schabhüttl M; Tomni C; Windhager R; Strom TM; Wieland T; Gremel K; Auer-Grumbach M
    Am J Med Genet B Neuropsychiatr Genet; 2016 Sep; 171(6):875-8. PubMed ID: 27184211
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
    Kornak U; Mademan I; Schinke M; Voigt M; Krawitz P; Hecht J; Barvencik F; Schinke T; Gießelmann S; Beil FT; Pou-Serradell A; Vílchez JJ; Beetz C; Deconinck T; Timmerman V; Kaether C; De Jonghe P; Hübner CA; Gal A; Amling M; Mundlos S; Baets J; Kurth I
    Brain; 2014 Mar; 137(Pt 3):683-92. PubMed ID: 24459106
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.
    Elhennawy K; Reda S; Finke C; Graul-Neumann L; Jost-Brinkmann PG; Bartzela T
    J Med Case Rep; 2017 Aug; 11(1):233. PubMed ID: 28807049
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital insensitivity to pain in four related Saudi families.
    Karkashan EM; Joharji HS; Al-Harbi NN
    Pediatr Dermatol; 2002; 19(4):333-5. PubMed ID: 12220280
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.
    Cao Y; Manning M; Pope K; He W; Vetrini F; Siskind C; Rosenfeld JA; Yang Y; Xiao R
    Clin Genet; 2021 Mar; 99(3):477-480. PubMed ID: 33188530
    [No Abstract]   [Full Text] [Related]  

  • 8. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.
    Bouhouche A; Benomar A; Bouslam N; Ouazzani R; Chkili T; Yahyaoui M
    Eur J Hum Genet; 2006 Feb; 14(2):249-52. PubMed ID: 16333315
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV.
    Sethi A; Ramasubramanian S; Swaminathan M
    Indian J Ophthalmol; 2020 Oct; 68(10):2270-2272. PubMed ID: 32971688
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
    Huehne K; Zweier C; Raab K; Odent S; Bonnaure-Mallet M; Sixou JL; Landrieu P; Goizet C; Sarlangue J; Baumann M; Eggermann T; Rauch A; Ruppert S; Stettner GM; Rautenstrauss B
    Neuromuscul Disord; 2008 Feb; 18(2):159-66. PubMed ID: 18077166
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Congenital insensitivity to pain: clinical and neurophysiological study in three sisters of a Moroccan family].
    Kissani N; Krrati H; Alarcon G; Belaaidi H; Ouazzani R
    Arch Pediatr; 2013 Nov; 20(11):1219-1224. PubMed ID: 24094759
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
    Guelly C; Zhu PP; Leonardis L; Papić L; Zidar J; Schabhüttl M; Strohmaier H; Weis J; Strom TM; Baets J; Willems J; De Jonghe P; Reilly MM; Fröhlich E; Hatz M; Trajanoski S; Pieber TR; Janecke AR; Blackstone C; Auer-Grumbach M
    Am J Hum Genet; 2011 Jan; 88(1):99-105. PubMed ID: 21194679
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Single-Fiber Recordings of Nociceptive Fibers in Patients With HSAN Type V With Congenital Insensitivity to Pain.
    Sagafos D; Kleggetveit IP; Helås T; Schmidt R; Minde J; Namer B; Schmelz M; Jørum E
    Clin J Pain; 2016 Jul; 32(7):636-42. PubMed ID: 27270876
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
    Lischka A; Eggermann K; Record CJ; Dohrn MF; Laššuthová P; Kraft F; Begemann M; Dey D; Eggermann T; Beijer D; Šoukalová J; Laura M; Rossor AM; Mazanec R; Van Lent J; Tomaselli PJ; Ungelenk M; Debus KY; Feely SME; Gläser D; Jagadeesh S; Martin M; Govindaraj GM; Singhi P; Baineni R; Biswal N; Ibarra-Ramírez M; Bonduelle M; Gess B; Romero Sánchez J; Suthar R; Udani V; Nalini A; Unnikrishnan G; Marques W; Mercier S; Procaccio V; Bris C; Suresh B; Reddy V; Skorupinska M; Bonello-Palot N; Mochel F; Dahl G; Sasidharan K; Devassikutty FM; Nampoothiri S; Rodovalho Doriqui MJ; Müller-Felber W; Vill K; Haack TB; Dufke A; Abele M; Stucka R; Siddiqi S; Ullah N; Spranger S; Chiabrando D; Bolgül BS; Parman Y; Seeman P; Lampert A; Schulz JB; Wood JN; Cox JJ; Auer-Grumbach M; Timmerman V; de Winter J; Themistocleous AC; Shy M; Bennett DL; Baets J; Hübner CA; Leipold E; Züchner S; Elbracht M; Çakar A; Senderek J; Hornemann T; Woods CG; Reilly MM; Kurth I
    Brain; 2023 Dec; 146(12):4880-4890. PubMed ID: 37769650
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
    Leonardis L; Auer-Grumbach M; Papić L; Zidar J
    Eur J Neurol; 2012 Jul; 19(7):992-8. PubMed ID: 22340599
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
    Altassan R; Saud HA; Masoodi TA; Dosssari HA; Khalifa O; Al-Zaidan H; Sakati N; Rhabeeni Z; Al-Hassnan Z; Binamer Y; Alhashemi N; Wade W; Al-Zayed Z; Al-Sayed M; Al-Muhaizea MA; Meyer B; Al-Owain M; Wakil SM
    Am J Med Genet A; 2017 Apr; 173(4):1009-1016. PubMed ID: 28328124
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.
    Pastore S; Harripaul R; Azam M; Vincent JB
    J Hum Genet; 2020 May; 65(5):493-496. PubMed ID: 32127623
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two brothers with a variant of hereditary sensory neuropathy.
    Pavone L; Huttenlocher P; Siciliano L; Micali G; Rizzo R; Anastasi M; Maimone D; Woolmann R
    Neuropediatrics; 1992 Apr; 23(2):92-5. PubMed ID: 1376446
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.
    Plassais J; Lagoutte L; Correard S; Paradis M; Guaguère E; Hédan B; Pommier A; Botherel N; Cadiergues MC; Pilorge P; Silversides D; Bizot M; Samuels M; Arnan C; Johnson R; Hitte C; Salbert G; Méreau A; Quignon P; Derrien T; André C
    PLoS Genet; 2016 Dec; 12(12):e1006482. PubMed ID: 28033318
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.
    Xu Q; Wang Y; Zhou Y; Zhang L; Xiang X; Xie Y; Lu J; Li L; Zhu Y; Zhang Z; Zhang T; Li L
    Medicine (Baltimore); 2024 Jan; 103(3):e36955. PubMed ID: 38241559
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.