BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 37758168)

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

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.
    Ni C; Cheng RH; Zhang J; Liang JY; Wei RQ; Li M; Yao ZR
    Eur J Dermatol; 2019 Dec; 29(6):641-646. PubMed ID: 31903955
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
    Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjöld M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
    Am J Hum Genet; 2014 Sep; 95(3):285-93. PubMed ID: 25152457
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 43(13):1666-1670. PubMed ID: 37964427
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; ; Boycott KM
    Am J Med Genet A; 2019 May; 179(5):813-816. PubMed ID: 30838783
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
    Putoux A; Alqahtani A; Pinson L; Paulussen AD; Michel J; Besson A; Mazoyer S; Borg I; Nampoothiri S; Vasiljevic A; Uwineza A; Boggio D; Champion F; de Die-Smulders CE; Gardeitchik T; van Putten WK; Perez MJ; Musizzano Y; Razavi F; Drunat S; Verloes A; Hennekam R; Guibaud L; Alix E; Sanlaville D; Lesca G; Edery P
    Clin Genet; 2016 Dec; 90(6):550-555. PubMed ID: 27040866
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 94(6):898-904. PubMed ID: 24836451
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
    Abdel-Salam GM; Abdel-Hamid MS; Issa M; Magdy A; El-Kotoury A; Amr K
    Am J Med Genet A; 2012 Jun; 158A(6):1455-61. PubMed ID: 22581640
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
    Wang Y; Wu X; Du L; Zheng J; Deng S; Bi X; Chen Q; Xie H; Férec C; Cooper DN; Luo Y; Fang Q; Chen JM
    Hum Genomics; 2018 Jan; 12(1):3. PubMed ID: 29370840
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
    Hagiwara H; Matsumoto H; Uematsu K; Zaha K; Sekinaka Y; Miyake N; Matsumoto N; Nonoyama S
    Brain Dev; 2021 Feb; 43(2):337-342. PubMed ID: 33059947
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
    Sabbagh Q; Tharreau M; Cenni C; Sanchez E; Ruiz-Pallares N; Alkar F; Amouroux C; David S; Prodhomme O; Leboucq N; Meunier I; Bessis D; Theron A; Barat-Houari M; Willems M
    Eur J Med Genet; 2023 May; 66(5):104733. PubMed ID: 36842471
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
    Sigaudy S; Toutain A; Moncla A; Fredouille C; Bourlière B; Ayme S; Philip N
    Am J Med Genet; 1998 Oct; 80(1):16-24. PubMed ID: 9800907
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.