BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 37529930)

  • 1. Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.
    Hui PW; Mok YK; Luk HM; Au SLK; Lau EYT; Chung B; Kan ASY
    Prenat Diagn; 2023 Sep; 43(10):1366-1369. PubMed ID: 37529930
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
    Li H; Cheng B; Hu X; Li C; Su J; Zhang S; Li L; Li M; Yang K; He S; Chen S; Wang H; Liu G; Shen Y
    Clin Chim Acta; 2020 Jan; 500():128-134. PubMed ID: 31654632
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
    Lin AE; Michot C; Cormier-Daire V; L'Ecuyer TJ; Matherne GP; Barnes BH; Humberson JB; Edmondson AC; Zackai E; O'Connor MJ; Kaplan JD; Ebeid MR; Krier J; Krieg E; Ghoshhajra B; Lindsay ME
    Am J Med Genet A; 2016 Oct; 170(10):2617-31. PubMed ID: 27302097
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
    Lin AE; Alali A; Starr LJ; Shah N; Beavis A; Pereira EM; Lindsay ME; Klugman S
    Am J Med Genet A; 2020 Feb; 182(2):328-337. PubMed ID: 31837202
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
    Liu J; Liu Q; Yang S; Ma N; Pang J; Peng Y; Xi H; Jia Z; Luo Y; Jiang M; Teng Y; Yu W; Li Z; Wang H
    Mol Genet Genomic Med; 2021 Aug; 9(8):e1750. PubMed ID: 34293831
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
    Michot C; Le Goff C; Mahaut C; Afenjar A; Brooks AS; Campeau PM; Destree A; Di Rocco M; Donnai D; Hennekam R; Heron D; Jacquemont S; Kannu P; Lin AE; Manouvrier-Hanu S; Mansour S; Marlin S; McGowan R; Murphy H; Raas-Rothschild A; Rio M; Simon M; Stolte-Dijkstra I; Stone JR; Sznajer Y; Tolmie J; Touraine R; van den Ende J; Van der Aa N; van Essen T; Verloes A; Munnich A; Cormier-Daire V
    Eur J Hum Genet; 2014 Nov; 22(11):1272-7. PubMed ID: 24424121
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.
    Yu QX; Zhen L; Lin XM; Wen YJ; Li DZ
    Prenat Diagn; 2023 Dec; 43(13):1662-1665. PubMed ID: 37936555
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects.
    Lei TY; Li R; Fu F; Wan JH; Zhang YL; Jing XY; Liao C
    Taiwan J Obstet Gynecol; 2016 Dec; 55(6):886-890. PubMed ID: 28040141
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Prenatal screening for fetal aneuploidy in singleton pregnancies.
    Chitayat D; Langlois S; Douglas Wilson R; ;
    J Obstet Gynaecol Can; 2011 Jul; 33(7):736-750. PubMed ID: 21749752
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology.
    Xue S; Yan H; Chen J; Li N; Wang J; Liu Y; Zhang H; Li S; Zhang W; Chen D; Chen M
    Cytogenet Genome Res; 2020; 160(2):57-62. PubMed ID: 32036363
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Comparison of results of prenatal diagnosis by different techniques for fetuses with increased nuchal translucency].
    Dai W; Liu X; Ma X; Yu Z; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):532-537. PubMed ID: 37102284
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
    Yang K; Wang X; Wang WQ; Han MY; Hu LM; Kang DY; Yang JY; Liu M; Gao X; Yuan YY; Xu JC
    Mol Genet Genomic Med; 2023 Mar; 11(3):e2103. PubMed ID: 36373990
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole exome sequencing in fetuses with isolated increased nuchal translucency: a systematic review and meta-analysis.
    Di Girolamo R; Rizzo G; Khalil A; Alameddine S; Lisi G; Liberati M; Novelli A; D'Antonio F
    J Matern Fetal Neonatal Med; 2023 Dec; 36(1):2193285. PubMed ID: 37019452
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold.
    Peng HH; Yu CJ; Chen YC; Hsu CC; Chang SD; Chueh HY; Chang YL; Cheng PJ; Lee YC
    Taiwan J Obstet Gynecol; 2023 Jan; 62(1):163-166. PubMed ID: 36720533
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal screening for and diagnosis of aneuploidy in twin pregnancies.
    Audibert F; Gagnon A; ;
    J Obstet Gynaecol Can; 2011 Jul; 33(7):754-67. PubMed ID: 21749753
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
    Biard JM; Steenhaut P; Bernard P; Race V; Sznajer Y
    Eur J Obstet Gynecol Reprod Biol; 2019 Sep; 240():232-241. PubMed ID: 31336229
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Prenatal diagnosis of a case with Schuurs-Hoeijmakers syndrome].
    Su L; Zhu X; Wu Q; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1373-1376. PubMed ID: 37906144
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study.
    Hui L; Pynaker C; Bonacquisto L; Lindquist A; Poulton A; Kluckow E; Hutchinson B; Norris F; Pertile MD; Gugasyan L; Kulkarni A; Harraway J; Howden A; McCoy R; da Silva Costa F; Menezes M; Palma-Dias R; Nisbet D; Martin N; Bethune M; Poulakis Z; Halliday J
    Am J Obstet Gynecol; 2021 Nov; 225(5):527.e1-527.e12. PubMed ID: 33957116
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fetal cardiac defects and increased nuchal translucency thickness: a prospective study.
    McAuliffe FM; Hornberger LK; Winsor S; Chitayat D; Chong K; Johnson JA
    Am J Obstet Gynecol; 2004 Oct; 191(4):1486-90. PubMed ID: 15507988
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prenatal diagnosis of Noonan syndrome in fetuses with increased nuchal translucency and a normal karyotype.
    Matyášová M; Dobšáková Z; Hiemerová M; Kadlecová J; Nikulenkov Grochová D; Popelínská E; Svobodová E; Vlašín P
    Ceska Gynekol; 2019; 84(3):195-200. PubMed ID: 31324109
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.