These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 23037936)

  • 1. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
    van der Werf CS; Sribudiani Y; Verheij JB; Carroll M; O'Loughlin E; Chen CH; Brooks AS; Liszewski MK; Atkinson JP; Hofstra RM
    Genet Med; 2013 Apr; 15(4):310-3. PubMed ID: 23037936
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.
    Iqbal NS; Jascur TA; Harrison SM; Edwards AB; Smith LT; Choi ES; Arevalo MK; Chen C; Zhang S; Kern AJ; Scheuerle AE; Sanchez EJ; Xing C; Baker LA
    BMC Med Genet; 2020 Feb; 21(1):38. PubMed ID: 32085749
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
    Atwal PS; Blease S; Braxton A; Graves J; He W; Person R; Slattery L; Bernstein JA; Hudgins L
    Am J Med Genet A; 2016 Apr; 170A(4):891-5. PubMed ID: 26686323
    [TBL] [Abstract][Full Text] [Related]  

  • 6. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.
    Fernández L; Tenorio J; Polo-Vaquero C; Vallespín E; Palomares-Bralo M; García-Miñaúr S; Santos-Simarro F; Arias P; Carnicer H; Giannivelli S; Medina J; Pérez-Piaya R; Solís J; Rodríguez M; Villagrá A; Rodríguez L; Nevado J; Martínez-Glez V; Heath KE; Lapunzina P
    Rev Esp Cardiol (Engl Ed); 2018 Jul; 71(7):545-552. PubMed ID: 29146485
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
    Parrini E; Mei D; Pisanti MA; Catarzi S; Pucatti D; Bianchini C; Mascalchi M; Bertini E; Morrone A; Cavaliere ML; Guerrini R
    J Med Genet; 2015 Jun; 52(6):405-12. PubMed ID: 25755106
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
    Oda H; Sato T; Kunishima S; Nakagawa K; Izawa K; Hiejima E; Kawai T; Yasumi T; Doi H; Katamura K; Numabe H; Okamoto S; Nakase H; Hijikata A; Ohara O; Suzuki H; Morisaki H; Morisaki T; Nunoi H; Hattori S; Nishikomori R; Heike T
    Eur J Hum Genet; 2016 Mar; 24(3):408-14. PubMed ID: 26059841
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.
    Kasper BS; Kurzbuch K; Chang BS; Pauli E; Hamer HM; Winkler J; Hehr U
    Am J Med Genet A; 2013 Jun; 161A(6):1323-8. PubMed ID: 23636902
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.
    Masruha MR; Caboclo LO; Carrete H; Cendes IL; Rodrigues MG; Garzon E; Yacubian EM; Sakamoto AC; Sheen V; Harney M; Neal J; Hill RS; Bodell A; Walsh C; Vilanova LC
    Epilepsia; 2006 Jan; 47(1):211-4. PubMed ID: 16417552
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
    Ritelli M; Morlino S; Giacopuzzi E; Carini G; Cinquina V; Chiarelli N; Majore S; Colombi M; Castori M
    Am J Med Genet A; 2017 Jan; 173(1):169-176. PubMed ID: 27739212
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel no-stop FLNA mutation causes multi-organ involvement in males.
    Oegema R; Hulst JM; Theuns-Valks SD; van Unen LM; Schot R; Mancini GM; Schipper ME; de Wit MC; Sibbles BJ; de Coo IF; Nanninga V; Hofstra RM; Halley DJ; Brooks AS
    Am J Med Genet A; 2013 Sep; 161A(9):2376-84. PubMed ID: 23873601
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
    Santos HH; Garcia PP; Pereira L; Leão LL; Aguiar RA; Lana AM; Carvalho MR; Aguiar MJ
    Am J Med Genet A; 2010 Mar; 152A(3):726-31. PubMed ID: 20186808
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
    Cannaerts E; Shukla A; Hasanhodzic M; Alaerts M; Schepers D; Van Laer L; Girisha KM; Hojsak I; Loeys B; Verstraeten A
    BMC Med Genet; 2018 Aug; 19(1):140. PubMed ID: 30089473
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With
    Mercer CL; Andreoletti G; Carroll A; Salmon AP; Temple IK; Ennis S
    Circ Cardiovasc Genet; 2017 Dec; 10(6):. PubMed ID: 29237676
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
    Alves MM; Halim D; Maroofian R; de Graaf BM; Rooman R; van der Werf CS; Van de Vijver E; Mehrjardi MY; Aflatoonian M; Chioza BA; Baple EL; Dehghani M; Crosby AH; Hofstra RM
    Eur J Hum Genet; 2016 Nov; 24(11):1627-1629. PubMed ID: 27352967
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
    Rumping L; Wessels MW; Postma AV; van Schuppen J; van Slegtenhorst MA; Saris JJ; van Tintelen JP; Robertson SP; Alders M; Maas SM; Deprez RHL
    Am J Med Genet A; 2021 Dec; 185(12):3814-3820. PubMed ID: 34254723
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.