BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 20186808)

  • 21. Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
    Verloes A; Lesenfants S; Barr M; Grange DK; Journel H; Lombet J; Mortier G; Roeder E
    Am J Med Genet; 2000 Feb; 90(5):407-22. PubMed ID: 10706363
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.
    Roland-Billecart T; Schlund M; Lauwers L; Nicot R; Ferri J
    J Craniofac Surg; 2021 Nov-Dec 01; 32(8):2823-2826. PubMed ID: 34183625
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
    Sheen VL; Jansen A; Chen MH; Parrini E; Morgan T; Ravenscroft R; Ganesh V; Underwood T; Wiley J; Leventer R; Vaid RR; Ruiz DE; Hutchins GM; Menasha J; Willner J; Geng Y; Gripp KW; Nicholson L; Berry-Kravis E; Bodell A; Apse K; Hill RS; Dubeau F; Andermann F; Barkovich J; Andermann E; Shugart YY; Thomas P; Viri M; Veggiotti P; Robertson S; Guerrini R; Walsh CA
    Neurology; 2005 Jan; 64(2):254-62. PubMed ID: 15668422
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens.
    Page RC; Clark JG; Misra S
    Acta Crystallogr Sect F Struct Biol Cryst Commun; 2011 Aug; 67(Pt 8):871-6. PubMed ID: 21821884
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
    Parrini E; Ramazzotti A; Dobyns WB; Mei D; Moro F; Veggiotti P; Marini C; Brilstra EH; Dalla Bernardina B; Goodwin L; Bodell A; Jones MC; Nangeroni M; Palmeri S; Said E; Sander JW; Striano P; Takahashi Y; Van Maldergem L; Leonardi G; Wright M; Walsh CA; Guerrini R
    Brain; 2006 Jul; 129(Pt 7):1892-906. PubMed ID: 16684786
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
    Gargiulo A; Auricchio R; Barone MV; Cotugno G; Reardon W; Milla PJ; Ballabio A; Ciccodicola A; Auricchio A
    Am J Hum Genet; 2007 Apr; 80(4):751-8. PubMed ID: 17357080
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2.
    Murphy-Ryan M; Babovic-Vuksanovic D; Lindor N
    Am J Med Genet A; 2011 Apr; 155A(4):855-9. PubMed ID: 21412975
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Familial cardiac valvulopathy due to filamin A mutation.
    Bernstein JA; Bernstein D; Hehr U; Hudgins L
    Am J Med Genet A; 2011 Sep; 155A(9):2236-41. PubMed ID: 21815255
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.
    Colombani M; Laurent N; Le Merrer M; Delezoide AL; Thauvin-Robinet C; Huet F; Sagot P; Couvreur S; Rousseau T; Robertson SP; Faivre L
    Prenat Diagn; 2006 Dec; 26(12):1151-5. PubMed ID: 17009344
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
    Guerrini R; Mei D; Sisodiya S; Sicca F; Harding B; Takahashi Y; Dorn T; Yoshida A; Campistol J; Krämer G; Moro F; Dobyns WB; Parrini E
    Neurology; 2004 Jul; 63(1):51-6. PubMed ID: 15249610
    [TBL] [Abstract][Full Text] [Related]  

  • 31. In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
    Parrini E; Rivas IL; Toral JF; Pucatti D; Giglio S; Mei D; Guerrini R
    Am J Med Genet A; 2011 May; 155A(5):1140-6. PubMed ID: 21484998
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
    Basart H; van de Kar A; Adès L; Cho TJ; Carter E; Maas SM; Wilson LC; van der Horst CM; Wade EM; Robertson SP; Hennekam RC
    Am J Med Genet A; 2015 Jun; 167(6):1215-22. PubMed ID: 25899317
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
    Dissanayake R; Senanayake MP; Fernando J; Robertson SP; Dissanayake VHW; Sirisena ND
    Am J Med Genet A; 2021 Apr; 185(4):1317-1320. PubMed ID: 33372358
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
    Wade EM; Jenkins ZA; Morgan T; Gimenez G; Gibson H; Peng H; Sanchez Russo R; Skraban CM; Bedoukian E; Robertson SP
    Am J Med Genet A; 2021 Dec; 185(12):3675-3682. PubMed ID: 34272929
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
    Foley C; Roberts K; Tchrakian N; Morgan T; Fryer A; Robertson SP; Tubridy N
    Mol Syndromol; 2010 Sep; 1(3):121-126. PubMed ID: 21031081
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
    Hehr U; Hehr A; Uyanik G; Phelan E; Winkler J; Reardon W
    J Med Genet; 2006 Jun; 43(6):541-4. PubMed ID: 16299064
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
    Sun Y; Almomani R; Aten E; Celli J; van der Heijden J; Venselaar H; Robertson SP; Baroncini A; Franco B; Basel-Vanagaite L; Horii E; Drut R; Ariyurek Y; den Dunnen JT; Breuning MH
    Am J Hum Genet; 2010 Jul; 87(1):146-53. PubMed ID: 20598277
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations in two regions of FLNB result in atelosteogenesis I and III.
    Farrington-Rock C; Firestein MH; Bicknell LS; Superti-Furga A; Bacino CA; Cormier-Daire V; Le Merrer M; Baumann C; Roume J; Rump P; Verheij JB; Sweeney E; Rimoin DL; Lachman RS; Robertson SP; Cohn DH; Krakow D
    Hum Mutat; 2006 Jul; 27(7):705-10. PubMed ID: 16752402
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.
    Lah M; Niranjan T; Srikanth S; Holloway L; Schwartz CE; Wang T; Weaver DD
    Am J Med Genet A; 2016 Apr; 170A(4):881-90. PubMed ID: 26804200
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
    Sheen VL; Basel-Vanagaite L; Goodman JR; Scheffer IE; Bodell A; Ganesh VS; Ravenscroft R; Hill RS; Cherry TJ; Shugart YY; Barkovich J; Straussberg R; Walsh CA
    Brain Dev; 2004 Aug; 26(5):326-34. PubMed ID: 15165674
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.