207 related articles for article (PubMed ID: 27028275)
21. Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies.
Nie D; Zhang J; Wang F; Zhang W; Liu L; Chen X; Zhang Y; Cao P; Xiong M; Wang T; Wu P; Ma X; Tian W; Wang M; Chen KN; Liu H
BMC Med Genet; 2020 Jun; 21(1):118. PubMed ID: 32487094
[TBL] [Abstract][Full Text] [Related]
22. Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.
Moreno OM; Sánchez AI; Herreño A; Giraldo G; Suárez F; Prieto JC; Clavijo AS; Olaya M; Vargas Y; Benítez J; Surallés J; Rojas A
Mol Syndromol; 2020 Dec; 11(5-6):271-283. PubMed ID: 33505230
[TBL] [Abstract][Full Text] [Related]
23. The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients.
Bourke G; Wilks D; Kinsey S; Feltbower RG; Giri N; Alter BP
J Hand Surg Eur Vol; 2022 Jul; 47(7):711-715. PubMed ID: 35360980
[TBL] [Abstract][Full Text] [Related]
24. Incidence of Fanconi anemia in children with congenital thumb anomalies referred for diepoxybutane testing.
Webb ML; Rosen H; Taghinia A; McCarty ER; Cerrato F; Upton J; Labow BI
J Hand Surg Am; 2011 Jun; 36(6):1052-7. PubMed ID: 21514743
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
Kopic S; Eirich K; Schuster B; Hanenberg H; Varon-Mateeva R; Rittinger O; Schimpl G; Schindler D; Jones N
Acta Paediatr; 2011 May; 100(5):780-3. PubMed ID: 21138478
[TBL] [Abstract][Full Text] [Related]
27. Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Asur RS; Kimble DC; Lach FP; Jung M; Donovan FX; Kamat A; Noonan RJ; Thomas JW; Park M; Chines P; Vlachos A; Auerbach AD; Smogorzewska A; Chandrasekharappa SC
Mol Genet Genomic Med; 2018 Jan; 6(1):77-91. PubMed ID: 29193904
[TBL] [Abstract][Full Text] [Related]
28. Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.
Hong SY; Kim SJ; Park MH; Lee KA
Medicina (Kaunas); 2023 Jul; 59(8):. PubMed ID: 37629676
[No Abstract] [Full Text] [Related]
29. Monozygotic twin girls with congenital malformations resembling fanconi anemia.
Poole SR; Smith AC; Hays T; McGavran L; Auerbach AD
Am J Med Genet; 1992 Apr; 42(6):780-4. PubMed ID: 1554014
[TBL] [Abstract][Full Text] [Related]
30. Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
Yamashita T; Nakahata T
Int J Hematol; 2001 Jul; 74(1):33-41. PubMed ID: 11530803
[TBL] [Abstract][Full Text] [Related]
31. Current clinical management of Fanconi anemia.
Smith AR; Wagner JE
Expert Rev Hematol; 2012 Oct; 5(5):513-22. PubMed ID: 23146055
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.
Wang H; Hunter AG; Clifford B; McLaughlin M; Thompson D
Am J Med Genet; 1993 Aug; 47(1):114-7. PubMed ID: 8368240
[TBL] [Abstract][Full Text] [Related]
34. [VACTERL-H association with tibial agenesis. Expansion of the clinical phenotype?].
Salinas-Torres VM; Ramos-Márquez ME; Angulo-Castellanos E
An Pediatr (Barc); 2013 Aug; 79(2):125-7. PubMed ID: 23265720
[No Abstract] [Full Text] [Related]
35. Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.
Boer LL; Morava E; Klein WM; Schepens-Franke AN; Oostra RJ
Birth Defects Res; 2017 Jun; 109(10):791-804. PubMed ID: 28509418
[TBL] [Abstract][Full Text] [Related]
36. VACTERL with hydrocephalus: family with X-linked VACTERL-H.
Lomas FE; Dahlstrom JE; Ford JH
Am J Med Genet; 1998 Feb; 76(1):74-8. PubMed ID: 9508070
[TBL] [Abstract][Full Text] [Related]
37. Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Chandrasekharappa SC; Chinn SB; Donovan FX; Chowdhury NI; Kamat A; Adeyemo AA; Thomas JW; Vemulapalli M; Hussey CS; Reid HH; Mullikin JC; Wei Q; Sturgis EM
Cancer; 2017 Oct; 123(20):3943-3954. PubMed ID: 28678401
[TBL] [Abstract][Full Text] [Related]
38. Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.
Reutter H; Hilger AC; Hildebrandt F; Ludwig M
Pediatr Nephrol; 2016 Nov; 31(11):2025-33. PubMed ID: 26857713
[TBL] [Abstract][Full Text] [Related]
39. Sporadic neonatal Fanconi's anemia with VACTERL association.
Kanemoto N; Fukushima T; Imoto N; Koike K; Kanemoto K; Matsuura S
Pediatr Int; 2010 Feb; 52(1):141-2. PubMed ID: 20158659
[No Abstract] [Full Text] [Related]
40. [Vater or Vacterl syndrome (author's transl)].
Baumann W; Greinacher I; Emmrich P; Spranger J
Klin Padiatr; 1976 Jul; 188(4):328-37. PubMed ID: 988425
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]