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Journal Abstract Search

130 related items for PubMed ID: 37964427

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  • 2. [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
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  • 4. Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
    Bourque DK, Cloutier M, Kernohan KD, Bareke E, Grynspan D, Michaud J, Care4Rare Canada ConsortiumCHEO Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM.
    Am J Med Genet A; 2019 May; 179(5):813-816. PubMed ID: 30838783
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  • 6. 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; 66(11):104852. PubMed ID: 37758168
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  • 10. On the phenotypic spectrum of serine biosynthesis defects.
    El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS.
    J Inherit Metab Dis; 2016 May; 39(3):373-381. PubMed ID: 26960553
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  • 11. 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; 43(4):758-769. PubMed ID: 32077105
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  • 12. 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; 41(9):1615-1628. PubMed ID: 32579715
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  • 14. 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; 59(12):2413-2420. PubMed ID: 30348640
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  • 15. Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome.
    Jain PV, Maxey J, W Lawlor M, Parsons LN.
    Cureus; 2023 May; 15(5):e38787. PubMed ID: 37303350
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