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139 related items for PubMed ID: 33372358

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. [Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case].
    Ye Q, Zhao J, Chang G, Wang Y, Ding Y, Li J, Li Q, Chen Y, Wang J, Wang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Apr 10; 38(4):355-358. PubMed ID: 33834464
    [Abstract] [Full Text] [Related]

  • 3. 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 10; 185(12):3675-3682. PubMed ID: 34272929
    [Abstract] [Full Text] [Related]

  • 4. Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1.
    Yapijakis C, Vylliotis A, Angelopoulou A, Adamopoulou M, Chrousos GP, Voumvourakis C.
    Adv Exp Med Biol; 2021 Dec 10; 1339():319-323. PubMed ID: 35023120
    [Abstract] [Full Text] [Related]

  • 5. 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 10; 167(6):1215-22. PubMed ID: 25899317
    [Abstract] [Full Text] [Related]

  • 6. Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.
    Costantini A, Wallgren-Pettersson C, Mäkitie O.
    Eur J Med Genet; 2018 Oct 10; 61(10):612-615. PubMed ID: 29660408
    [Abstract] [Full Text] [Related]

  • 7. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.
    Bertola D, Passos-Bueno MR, Pereira A, Kim C, Morgan T, Robertson SP.
    Am J Med Genet A; 2015 May 10; 167A(5):1161-4. PubMed ID: 25820619
    [No Abstract] [Full Text] [Related]

  • 8. 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 10; 152A(3):726-31. PubMed ID: 20186808
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 185(12):3814-3820. PubMed ID: 34254723
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1.
    Kim J, Lee DW, Jang DH.
    Front Pediatr; 2021 Jan 24; 9():574402. PubMed ID: 34277511
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
    Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.
    Am J Hum Genet; 2016 Aug 04; 99(2):392-406. PubMed ID: 27426733
    [Abstract] [Full Text] [Related]

  • 14. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
    Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A.
    Am J Hum Genet; 2004 Apr 04; 74(4):731-7. PubMed ID: 14988809
    [Abstract] [Full Text] [Related]

  • 15. Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report.
    Xie H, Xue L, Hua W, Jia B, Zhang L, Li L.
    Medicine (Baltimore); 2018 Jul 04; 97(28):e11283. PubMed ID: 29995760
    [Abstract] [Full Text] [Related]

  • 16. X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.
    Gangadaran P, Chaudhry C, Panigrahi I, Kumari A, Kaur A.
    Am J Med Genet A; 2021 May 04; 185(5):1550-1553. PubMed ID: 33615695
    [Abstract] [Full Text] [Related]

  • 17. Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1.
    Kim J, Lee DW, Jang JH, Kim M, Yim J, Jang DH.
    Front Pediatr; 2021 May 04; 9():628190. PubMed ID: 33718301
    [Abstract] [Full Text] [Related]

  • 18. Association of mutations in FLNA with craniosynostosis.
    Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO.
    Eur J Hum Genet; 2015 Dec 04; 23(12):1684-8. PubMed ID: 25873011
    [Abstract] [Full Text] [Related]

  • 19. Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.
    Ithychanda SS, Dou K, Robertson SP, Qin J.
    J Biol Chem; 2017 May 19; 292(20):8390-8400. PubMed ID: 28348077
    [Abstract] [Full Text] [Related]

  • 20. 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 19; 179(1):123-129. PubMed ID: 30561107
    [Abstract] [Full Text] [Related]

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