BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 17022572)

  • 1. [Aarskog-Scott syndrome].
    Matsuura N
    Nihon Rinsho; 2006 Sep; Suppl 3():395-9. PubMed ID: 17022572
    [No Abstract]   [Full Text] [Related]  

  • 2. [Robinow syndrome].
    Kawame H
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):236-7. PubMed ID: 11057211
    [No Abstract]   [Full Text] [Related]  

  • 3. Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.
    Pavone P; Marino S; Maniaci A; Cocuzza S
    BMJ Case Rep; 2020 Jun; 13(6):. PubMed ID: 32606125
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Russell-Silver syndrome].
    Kosaki K; Izumi K; Hasegawa T
    Nihon Rinsho; 2006 Sep; Suppl 3():436-9. PubMed ID: 17022582
    [No Abstract]   [Full Text] [Related]  

  • 5. X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
    Verhoeven WM; Egger JI; Hoogeboom AJ
    Genet Couns; 2012; 23(2):157-67. PubMed ID: 22876573
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
    Al-Semari A; Wakil SM; Al-Muhaizea MA; Dababo M; Al-Amr R; Alkuraya F; Meyer BF
    Clin Dysmorphol; 2013 Jan; 22(1):13-7. PubMed ID: 23211637
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel mutation in a mother and a son with Aarskog-Scott syndrome.
    Altıncık A; Kaname T; Demir K; Böber E
    J Pediatr Endocrinol Metab; 2013; 26(3-4):385-8. PubMed ID: 23443263
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
    Aten E; Sun Y; Almomani R; Santen GW; Messemaker T; Maas SM; Breuning MH; den Dunnen JT
    Hum Mutat; 2013 Mar; 34(3):430-4. PubMed ID: 23169394
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Aarskog syndrome. A case report].
    Cincinnati P; Lombardi AM; Morelli M; Rutiloni C
    Minerva Pediatr; 1994 Sep; 46(9):407-10. PubMed ID: 7799889
    [TBL] [Abstract][Full Text] [Related]  

  • 10. FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.
    Li S; Tian A; Wen Y; Gu W; Li W; Qiao X; Zhang C; Luo X
    Eur J Pediatr; 2024 May; 183(5):2257-2272. PubMed ID: 38411716
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Leprechaunism(Donohue syndrome)].
    Morooka K
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):207-8. PubMed ID: 11057198
    [No Abstract]   [Full Text] [Related]  

  • 12. Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
    Pilozzi-Edmonds L; Maher TA; Basran RK; Milunsky A; Al-Thihli K; Braverman NE; Alfares A
    Am J Med Genet A; 2011 Aug; 155A(8):1987-90. PubMed ID: 21739585
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
    Orrico A; Galli L; Clayton-Smith J; Fryns JP
    Eur J Hum Genet; 2011 Nov; 19(11):. PubMed ID: 21654724
    [No Abstract]   [Full Text] [Related]  

  • 14. The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in
    Bae GY; Kim MS; Kim JY; Jang JH; Lee SM; Cho SY; Jin DK
    Ann Clin Lab Sci; 2020 Sep; 50(5):691-698. PubMed ID: 33067218
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
    Ronce N; Maystadt I; Hubert C; Vonwill S; Devriendt K; Moizard MP; Raynaud M
    Clin Genet; 2012 Jul; 82(1):93-6. PubMed ID: 22211847
    [No Abstract]   [Full Text] [Related]  

  • 16. [Börjeson-Forssman-Lehmann syndrome].
    Kubota T
    Nihon Rinsho; 2006 Sep; Suppl 3():410-2. PubMed ID: 17022575
    [No Abstract]   [Full Text] [Related]  

  • 17. Picture of the month: Fetal face syndrome (Robinow Snydrome).
    Gellis SS; Feingold M; Bull M
    Am J Dis Child; 1975 Mar; 129(3):351-2. PubMed ID: 1121964
    [No Abstract]   [Full Text] [Related]  

  • 18. Aarskog-Scott syndrome presenting with psychosis: A case study.
    Trevizol AP; Sato IA; Dias DR; de Barros Calfat EL; de Carvalho Tasso B; Alberto RL; Cordeiro Q; Shiozawa P
    Schizophr Res; 2015 Jun; 165(1):108-9. PubMed ID: 25911513
    [No Abstract]   [Full Text] [Related]  

  • 19. Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.
    Depeyre A; Schlund M; Gryseleyn R; Ferri J
    J Oral Maxillofac Surg; 2018 Oct; 76(10):2202-2208. PubMed ID: 29689188
    [TBL] [Abstract][Full Text] [Related]  

  • 20. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
    Bedoyan JK; Friez MJ; DuPont B; Ahmad A
    Eur J Med Genet; 2009; 52(4):262-4. PubMed ID: 19110080
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.