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Journal Abstract Search

134 related items for PubMed ID: 31919883

  • 1. Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review.
    Li Z, Xie Y, Xiao Q, Wang L.
    J Dermatol; 2020 Mar; 47(3):295-299. PubMed ID: 31919883
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.
    Connor CJ, Shchelochkov OA, Ciliberto H.
    Am J Med Genet A; 2015 Oct; 167A(10):2459-62. PubMed ID: 26059211
    [Abstract] [Full Text] [Related]

  • 4. Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.
    Azakli H, Akkaya AD, Aygün MS, Demirkesen C, Eraslan S, Kayserili H.
    Am J Med Genet A; 2019 Jan; 179(1):123-129. PubMed ID: 30561107
    [Abstract] [Full Text] [Related]

  • 5. Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.
    Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA.
    Mol Genet Genomic Med; 2014 Nov; 2(6):467-71. PubMed ID: 25614868
    [Abstract] [Full Text] [Related]

  • 6. 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 09; 87(1):146-53. PubMed ID: 20598277
    [Abstract] [Full Text] [Related]

  • 7. Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas.
    Gontijo JRV, Dos Santos WF, Gontijo B, Happle R.
    Pediatr Dermatol; 2018 Nov 09; 35(6):e353-e356. PubMed ID: 30168171
    [Abstract] [Full Text] [Related]

  • 8. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
    Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA.
    Am J Med Genet A; 2010 Jul 09; 152A(7):1825-31. PubMed ID: 20583181
    [Abstract] [Full Text] [Related]

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  • 10. Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.
    Bhabha FK, Walsh M, Orchard D, Savarirayan R.
    Australas J Dermatol; 2016 Nov 09; 57(4):312-315. PubMed ID: 26061098
    [Abstract] [Full Text] [Related]

  • 11. Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.
    Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B.
    Am J Med Genet A; 2007 Jan 01; 143A(1):51-7. PubMed ID: 17152064
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 185(12):3675-3682. PubMed ID: 34272929
    [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 01; 152A(3):726-31. PubMed ID: 20186808
    [Abstract] [Full Text] [Related]

  • 14. Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome.
    Drut R, Pedemonte L, Rositto A.
    Int J Surg Pathol; 2005 Apr 01; 13(2):181-4. PubMed ID: 15864382
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 71(7):545-552. PubMed ID: 29146485
    [Abstract] [Full Text] [Related]

  • 16. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.
    Bacino CA, Stockton DW, Sierra RA, Heilstedt HA, Lewandowski R, Van den Veyver IB.
    Am J Med Genet; 2000 Sep 11; 94(2):102-12. PubMed ID: 10982966
    [Abstract] [Full Text] [Related]

  • 17. 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 11; 185(4):1317-1320. PubMed ID: 33372358
    [Abstract] [Full Text] [Related]

  • 18. Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene.
    Thieu T, Milman T, Bhatti TR, Eagle RC.
    J Pediatr Ophthalmol Strabismus; 2020 Jan 24; 57():e8-e11. PubMed ID: 31978233
    [Abstract] [Full Text] [Related]

  • 19. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
    Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D.
    Am J Med Genet A; 2006 Aug 15; 140(16):1726-36. PubMed ID: 16835913
    [Abstract] [Full Text] [Related]

  • 20. Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.
    Luo X, Yang Z, Zeng J, Chen J, Chen N, Jiang X, Wei Q, Yi P, Xu J.
    Mol Genet Genomic Med; 2023 May 15; 11(5):e2145. PubMed ID: 36734119
    [Abstract] [Full Text] [Related]

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