BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 38013637)

  • 1. Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant.
    Rich M; Schroeder B; Manning C; Abbott MA
    Prenat Diagn; 2023 Dec; 43(13):1671-1673. PubMed ID: 38013637
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
    Dhamija R; Kirmani S; Wang X; Ferber MJ; Wieben ED; Lazaridis KN; Babovic-Vuksanovic D
    Am J Med Genet A; 2014 Sep; 164A(9):2356-9. PubMed ID: 24888332
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
    Courage C; Jackson CB; Owczarek-Lipska M; Jamsheer A; Sowińska-Seidler A; Piotrowicz M; Jakubowski L; Dallèves F; Riesch E; Neidhardt J; Lemke JR
    Am J Med Genet A; 2019 Dec; 179(12):2447-2453. PubMed ID: 31512363
    [TBL] [Abstract][Full Text] [Related]  

  • 4. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
    Simonis N; Migeotte I; Lambert N; Perazzolo C; de Silva DC; Dimitrov B; Heinrichs C; Janssens S; Kerr B; Mortier G; Van Vliet G; Lepage P; Casimir G; Abramowicz M; Smits G; Vilain C
    J Med Genet; 2013 Sep; 50(9):585-92. PubMed ID: 23812909
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound.
    Chen CP; Chang TY; Hung FY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Lee CC; Wang W
    Taiwan J Obstet Gynecol; 2017 Dec; 56(6):843-846. PubMed ID: 29241932
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.
    Oliver JD; Menapace DC; Cofer SA
    Int J Pediatr Otorhinolaryngol; 2017 Jul; 98():4-8. PubMed ID: 28583501
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mosaicism in Hartsfield syndrome.
    Harris E; Richardson R; Annavarapu S; Tellez J; Butteriss D; Hannon T; Splitt M
    Eur J Med Genet; 2022 May; 65(5):104491. PubMed ID: 35338003
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis.
    Sung PL; Cheng EE; Chen YJ; Chern SR; Shih CY; Chang CM; Wang PH; Yen MS; Huang CY; Chen CP
    Taiwan J Obstet Gynecol; 2013 Dec; 52(4):602-6. PubMed ID: 24411055
    [No Abstract]   [Full Text] [Related]  

  • 9. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
    Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
    Taiwan J Obstet Gynecol; 2017 Dec; 56(6):821-826. PubMed ID: 29241927
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.
    Takenouchi T; Okuno H; Kosaki R; Ariyasu D; Torii C; Momoshima S; Harada N; Yoshihashi H; Takahashi T; Awazu M; Kosaki K
    Am J Med Genet A; 2012 Oct; 158A(10):2537-41. PubMed ID: 22887648
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal diagnosis of a fetus with partial monosomy 7(q34-->qter) and partial trisomy 18(q21-->qter).
    Pluchon E; Giovangrandi Y; Labbe F; Le Bris MJ; Collet M; Brettes JP; Riviere D; Riviere MR
    Prenat Diagn; 1993 Oct; 13(10):983-8. PubMed ID: 8309904
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
    Lansdon LA; Bernabe HV; Nidey N; Standley J; Schnieders MJ; Murray JC
    J Dent Res; 2017 Oct; 96(11):1339-1345. PubMed ID: 28825856
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prenatal sonographic diagnosis of median facial cleft should alert holoprosencephaly with premaxillary agenesis and prompt genetic investigations.
    Chen CP
    Ultrasound Obstet Gynecol; 2002 Apr; 19(4):421-2. PubMed ID: 11952980
    [No Abstract]   [Full Text] [Related]  

  • 14. Prenatal identification of a pathogenic maternal
    Graziani L; Nuovo S; Pisaneschi E; Carriero ML; Baghernajad Salehi L; Nardone AM; Manganaro L; Novelli A; D'Apice MR; Mappa I; Novelli G
    J Matern Fetal Neonatal Med; 2024 Dec; 37(1):2344718. PubMed ID: 38679587
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
    Richieri-Costa A; Zechi-Ceide RM; Candido-Souza RM; Monteiro RAC; Tonello C; de Freitas ML; Kokitsu-Nakata NM; Vendramini-Pittoli S; Mazzeu JF; Overes M; Ali-Amin R; van Slegtenhorst M; Hoefsloot LH; Jehee FS
    Am J Med Genet A; 2019 Nov; 179(11):2170-2177. PubMed ID: 31353810
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Familial ectrodactyly-ectodermal dysplasia-clefting syndrome.
    Gün I; Kizilaslan C; Atalay MA
    Int J Gynaecol Obstet; 2012 Oct; 119(1):86-7. PubMed ID: 22795755
    [No Abstract]   [Full Text] [Related]  

  • 17. A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.
    Palumbo P; Petracca A; Maggi R; Biagini T; Nardella G; Sacco MC; Di Schiavi E; Carella M; Micale L; Castori M
    Eur J Hum Genet; 2019 Jul; 27(7):1113-1120. PubMed ID: 30787447
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Significance of prenatal diagnosis of lip-jaw-palatal clefts].
    Bergé SJ; Plath H; Reich RH; Hansmann M
    Mund Kiefer Gesichtschir; 2002 Mar; 6(2):85-90. PubMed ID: 12017878
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Antenatal detection of cleft lip with or without cleft palate: incidence of associated chromosomal and structural anomalies.
    Gillham JC; Anand S; Bullen PJ
    Ultrasound Obstet Gynecol; 2009 Oct; 34(4):410-5. PubMed ID: 19790102
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.