These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 28898547)

  • 1. HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
    Farrell SA; Sodhi S; Marshall CR; Guerin A; Slavotinek A; Paton T; Chong K; Sirkin WL; Scherer SW; Bérubé-Simard FA; Pilon N
    Am J Med Genet A; 2017 Nov; 173(11):3070-3074. PubMed ID: 28898547
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.
    Slavotinek AM; Moshrefi A; Lopez Jiminez N; Chao R; Mendell A; Shaw GM; Pennacchio LA; Bates MD
    Clin Genet; 2009 May; 75(5):429-39. PubMed ID: 19459883
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
    Qi H; Yu L; Zhou X; Wynn J; Zhao H; Guo Y; Zhu N; Kitaygorodsky A; Hernan R; Aspelund G; Lim FY; Crombleholme T; Cusick R; Azarow K; Danko ME; Chung D; Warner BW; Mychaliska GB; Potoka D; Wagner AJ; ElFiky M; Wilson JM; Nickerson D; Bamshad M; High FA; Longoni M; Donahoe PK; Chung WK; Shen Y
    PLoS Genet; 2018 Dec; 14(12):e1007822. PubMed ID: 30532227
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.
    Brady PD; Moerman P; De Catte L; Deprest J; Devriendt K; Vermeesch JR
    Eur J Med Genet; 2014 Sep; 57(9):487-93. PubMed ID: 24852103
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital diaphragmatic hernia in WAGR syndrome.
    Scott DA; Cooper ML; Stankiewicz P; Patel A; Potocki L; Cheung SW
    Am J Med Genet A; 2005 May; 134(4):430-3. PubMed ID: 15779010
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.
    Brady PD; Van Houdt J; Callewaert B; Deprest J; Devriendt K; Vermeesch JR
    Eur J Med Genet; 2014; 57(6):247-52. PubMed ID: 24769157
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
    Winter-Paquette LM; Al Suwaidi HH; Sajjad Y; Bricker L
    Eur J Med Genet; 2022 May; 65(5):104501. PubMed ID: 35378319
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
    Esplin ED; Chaib H; Haney M; Martin B; Homeyer M; Urban AE; Bernstein JA
    Am J Med Genet A; 2015 Jun; 167(6):1360-4. PubMed ID: 25898814
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The influence of genetics in congenital diaphragmatic hernia.
    Yu L; Hernan RR; Wynn J; Chung WK
    Semin Perinatol; 2020 Feb; 44(1):151169. PubMed ID: 31443905
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
    Yu L; Bennett JT; Wynn J; Carvill GL; Cheung YH; Shen Y; Mychaliska GB; Azarow KS; Crombleholme TM; Chung DH; Potoka D; Warner BW; Bucher B; Lim FY; Pietsch J; Stolar C; Aspelund G; Arkovitz MS; ; Mefford H; Chung WK
    J Med Genet; 2014 Mar; 51(3):197-202. PubMed ID: 24385578
    [TBL] [Abstract][Full Text] [Related]  

  • 11. "Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.
    Beleza-Meireles A; Steenhaut P; Hocq C; Clapuyt P; Bernard P; Debauche C; Sznajer Y
    Eur J Med Genet; 2017 Feb; 60(2):100-104. PubMed ID: 27836748
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
    Scott TM; Campbell IM; Hernandez-Garcia A; Lalani SR; Liu P; Shaw CA; Rosenfeld JA; Scott DA
    J Med Genet; 2022 Mar; 59(3):270-278. PubMed ID: 33461977
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.
    Arsov T; Kelecic J; Frkovic SH; Sestan M; Kifer N; Andrews D; Adamski M; Jelusic M; Cook MC
    Eur J Med Genet; 2021 Dec; 64(12):104347. PubMed ID: 34619368
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
    Longoni M; Russell MK; High FA; Darvishi K; Maalouf FI; Kashani A; Tracy AA; Coletti CM; Loscertales M; Lage K; Ackerman KG; Woods SA; Ward-Melver C; Andrews D; Lee C; Pober BR; Donahoe PK
    Clin Genet; 2015 Apr; 87(4):362-7. PubMed ID: 24702427
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
    Qiao L; Xu L; Yu L; Wynn J; Hernan R; Zhou X; Farkouh-Karoleski C; Krishnan US; Khlevner J; De A; Zygmunt A; Crombleholme T; Lim FY; Needelman H; Cusick RA; Mychaliska GB; Warner BW; Wagner AJ; Danko ME; Chung D; Potoka D; Kosiński P; McCulley DJ; Elfiky M; Azarow K; Fialkowski E; Schindel D; Soffer SZ; Lyon JB; Zalieckas JM; Vardarajan BN; Aspelund G; Duron VP; High FA; Sun X; Donahoe PK; Shen Y; Chung WK
    Am J Hum Genet; 2021 Oct; 108(10):1964-1980. PubMed ID: 34547244
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?
    Kammoun M; Brady P; De Catte L; Deprest J; Devriendt K; Vermeesch JR
    Eur J Hum Genet; 2018 Mar; 26(3):359-366. PubMed ID: 29358614
    [TBL] [Abstract][Full Text] [Related]  

  • 17. NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.
    Izumi K; Noon S; Wilkens A; Krantz ID
    Eur J Med Genet; 2014 Oct; 57(10):558-61. PubMed ID: 25118008
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.
    Bleyl SB; Moshrefi A; Shaw GM; Saijoh Y; Schoenwolf GC; Pennacchio LA; Slavotinek AM
    Eur J Hum Genet; 2007 Sep; 15(9):950-8. PubMed ID: 17568391
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.
    Matsunami N; Shanmugam H; Baird L; Stevens J; Byrne JL; Barnhart DC; Rau C; Feldkamp ML; Yoder BA; Leppert MF; Yost HJ; Brunelli L
    Birth Defects Res; 2018 Apr; 110(7):610-617. PubMed ID: 29570242
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.
    Zhu Q; High FA; Zhang C; Cerveira E; Russell MK; Longoni M; Joy MP; Ryan M; Mil-Homens A; Bellfy L; Coletti CM; Bhayani P; Hila R; Wilson JM; Donahoe PK; Lee C
    Proc Natl Acad Sci U S A; 2018 May; 115(20):5247-5252. PubMed ID: 29712845
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.