BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 21910217)

  • 1. X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
    McCauley J; Masand N; McGowan R; Rajagopalan S; Hunter A; Michaud JL; Gibson K; Robertson J; Vaz F; Abbs S; Holden ST
    Am J Med Genet A; 2011 Oct; 155A(10):2370-80. PubMed ID: 21910217
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel FANCI mutations in Fanconi anemia with VACTERL association.
    Savage SA; Ballew BJ; Giri N; ; Chandrasekharappa SC; Ameziane N; de Winter J; Alter BP;
    Am J Med Genet A; 2016 Feb; 170A(2):386-391. PubMed ID: 26590883
    [TBL] [Abstract][Full Text] [Related]  

  • 3. X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.
    Mikat B; Roll C; Schindler D; Gembruch U; Klempert I; Buiting K; Bramswig NC; Wieczorek D
    Clin Dysmorphol; 2016 Apr; 25(2):73-6. PubMed ID: 26683739
    [No Abstract]   [Full Text] [Related]  

  • 4. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.
    Holden ST; Cox JJ; Kesterton I; Thomas NS; Carr C; Woods CG
    J Med Genet; 2006 Sep; 43(9):750-4. PubMed ID: 16679491
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
    Trimouille A; Tingaud-Sequeira A; Lacombe D; Duelund Hjortshøj T; Kreiborg S; Buciek Hove H; Rooryck C
    Clin Genet; 2020 Oct; 98(4):384-389. PubMed ID: 32639022
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).
    Umaña LA; Magoulas P; Bi W; Bacino CA
    Am J Med Genet A; 2011 Dec; 155A(12):3071-4. PubMed ID: 22052692
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.
    Winberg J; Gustavsson P; Papadogiannakis N; Sahlin E; Bradley F; Nordenskjöld E; Svensson PJ; Annerén G; Iwarsson E; Nordgren A; Nordenskjöld A
    PLoS One; 2014; 9(1):e85313. PubMed ID: 24416387
    [TBL] [Abstract][Full Text] [Related]  

  • 8. VACTERL/VATER Association.
    Solomon BD
    Orphanet J Rare Dis; 2011 Aug; 6():56. PubMed ID: 21846383
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.
    Choinitzki V; Zwink N; Bartels E; Baudisch F; Boemers TM; Hölscher A; Turial S; Bachour H; Heydweiller A; Kurz R; Bartmann P; Pauly M; Brokmeier U; Leutner A; Nöthen MM; Schumacher J; Jenetzky E; Reutter H
    Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):786-91. PubMed ID: 24307608
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
    Vetro A; Iascone M; Limongelli I; Ameziane N; Gana S; Della Mina E; Giussani U; Ciccone R; Forlino A; Pezzoli L; Rooimans MA; van Essen AJ; Messa J; Rizzuti T; Bianchi P; Dorsman J; de Winter JP; Lalatta F; Zuffardi O
    Hum Mutat; 2015 May; 36(5):562-8. PubMed ID: 25754594
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.
    Alter BP; Giri N
    Am J Med Genet A; 2016 Jun; 170(6):1520-4. PubMed ID: 27028275
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
    Tumini S; Alfonsi M; Carinci S; Morizio E; Antonucci I; Gatta V; Lisi G; Lelli Chiesa P; Calabrese G; Stuppia L; Palka C
    Cytogenet Genome Res; 2019; 158(3):121-125. PubMed ID: 31315107
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Sonic Hedgehog, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications.
    Lubinsky M
    Am J Med Genet A; 2015 Nov; 167A(11):2594-8. PubMed ID: 26198446
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
    Zeidler C; Woelfle J; Draaken M; Mughal SS; Große G; Hilger AC; Dworschak GC; Boemers TM; Jenetzky E; Zwink N; Lacher M; Schmidt D; Schmiedeke E; Grasshoff-Derr S; Märzheuser S; Holland-Cunz S; Schäfer M; Bartels E; Keppler K; Palta M; Leonhardt J; Kujath C; Rißmann A; Nöthen MM; Reutter H; Ludwig M
    Birth Defects Res A Clin Mol Teratol; 2014 Oct; 100(10):750-9. PubMed ID: 25131394
    [TBL] [Abstract][Full Text] [Related]  

  • 15. X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report.
    Watanabe N; Tsutsumi S; Miyano Y; Sato H; Nagase S
    Congenit Anom (Kyoto); 2018 Sep; 58(5):171-172. PubMed ID: 29232005
    [No Abstract]   [Full Text] [Related]  

  • 16. Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.
    Gurung N; Grosse G; Draaken M; Hilger AC; Nauman N; Müller A; Gembruch U; Merz WM; Reutter H; Ludwig M
    Mol Med Rep; 2015 Jul; 12(1):1579-83. PubMed ID: 25775927
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS.
    Dracopoulos C; Gembicki M; Scharf JL; Welp A; Berg N; Weichert J
    Fetal Pediatr Pathol; 2022 Oct; 41(5):871-880. PubMed ID: 34689682
    [TBL] [Abstract][Full Text] [Related]  

  • 18. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
    Kause F; Zhang R; Ludwig M; Schmiedeke E; Rissmann A; Thiele H; Altmueller J; Herms S; Hilger AC; Hildebrandt F; Reutter H
    Birth Defects Res; 2019 Jun; 111(10):591-597. PubMed ID: 30887706
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
    La Placa S; Giuffrè M; Gangemi A; Di Noto S; Matina F; Nociforo F; Antona V; Di Pace MR; Piccione M; Corsello G
    Ital J Pediatr; 2013 Jul; 39():45. PubMed ID: 23842449
    [TBL] [Abstract][Full Text] [Related]  

  • 20. VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin.
    Sandal G; Aslan N; Duman L; Ormeci AR
    Genet Couns; 2014; 25(2):231-5. PubMed ID: 25059024
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.