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Journal Abstract Search

355 related items for PubMed ID: 27475004

  • 1. [Neu-Laxova syndrome: Three case reports and a review of the literature].
    Darouich S, Boujelbene N, Kehila M, Chanoufi MB, Reziga H, Gaigi S, Masmoudi A.
    Ann Pathol; 2016 Aug; 36(4):235-44. PubMed ID: 27475004
    [Abstract] [Full Text] [Related]

  • 2. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
    Mattos EP, Silva AA, Magalhães JA, Leite JC, Leistner-Segal S, Gus-Kessler R, Perez JA, Vedolin LM, Torreblanca-Zanca A, Lapunzina P, Ruiz-Perez VL, Sanseverino MT.
    Am J Med Genet A; 2015 Jun; 167(6):1323-9. PubMed ID: 25913727
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  • 3. Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.
    Cavole TR, Perrone E, Lucena de Castro FSC, Alvarez Perez AB, Waitzberg AFL, Cernach MCSP.
    Am J Med Genet A; 2020 Jun; 182(6):1473-1476. PubMed ID: 32196970
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  • 4. Second trimester diagnosis of Neu Laxova syndrome.
    Shivarajan MA, Suresh S, Jagadeesh S, Lata S, Bhat L.
    Prenat Diagn; 2003 Jan; 23(1):21-4. PubMed ID: 12533807
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  • 7. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
    Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS.
    Am J Hum Genet; 2014 Jun 05; 94(6):898-904. PubMed ID: 24836451
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  • 8. Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
    Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE.
    Am J Med Genet A; 2004 Mar 15; 125A(3):240-9. PubMed ID: 14994231
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  • 9. Neu-Laxova syndrome: a prenatal diagnosis.
    Dhillon P, Bofill JA.
    J Miss State Med Assoc; 2011 Oct 15; 52(10):307-9. PubMed ID: 22268252
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  • 13. A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature.
    Coto-Puckett WL, Gilbert-Barness E, Steelman CK, Stuart T, Robinson HB, Shehata BM.
    Fetal Pediatr Pathol; 2010 Jan 15; 29(2):108-19. PubMed ID: 20334486
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  • 14. Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.
    Bourgon N, Chen R, Grangé G, Grotto S, Molac C, Loeuillet L, Attié-Bitach T.
    Prenat Diagn; 2023 Dec 15; 43(13):1666-1670. PubMed ID: 37964427
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  • 15. Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report.
    Kahyaoglu S, Turgay I, Ertas IE, Ceylaner S, Danisman N.
    Arch Gynecol Obstet; 2007 Oct 15; 276(4):367-70. PubMed ID: 17406877
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  • 17. Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency.
    Takeichi T, Okuno Y, Kawamoto A, Inoue T, Nagamoto E, Murase C, Shimizu E, Tanaka K, Kageshita Y, Fukushima S, Kono M, Ishikawa J, Ihn H, Takahashi Y, Akiyama M.
    J Lipid Res; 2018 Dec 15; 59(12):2413-2420. PubMed ID: 30348640
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  • 18. A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
    Sirr A, Lo RS, Cromie GA, Scott AC, Ashmead J, Heyesus M, Dudley AM.
    J Inherit Metab Dis; 2020 Jul 15; 43(4):758-769. PubMed ID: 32077105
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  • 19. PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
    Cuinat S, Quélin C, Pasquier L, Loget P, Aussel D, Odent S, Laquerrière A, Proisy M, Mazoyer S, Delous M, Edery P, Chatron N, Lesca G, Putoux A.
    Eur J Med Genet; 2023 Nov 15; 66(11):104852. PubMed ID: 37758168
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  • 20. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
    Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, Amor DJ, Walsh M, Sznajer Y, Weiß L, Weidensee S, Chitayat D, Shannon P, Bermejo-Sánchez E, Riaño-Galán I, Hayes I, Poke G, Rooryck C, Pennamen P, Khung-Savatovsky S, Toutain A, Vuillaume ML, Ghaderi-Sohi S, Kariminejad MH, Weinert S, Sticht H, Zenker M, Schanze D.
    Hum Mutat; 2020 Sep 15; 41(9):1615-1628. PubMed ID: 32579715
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