173 related articles for article (PubMed ID: 22052692)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.
Solomon BD; Baker LA; Bear KA; Cunningham BK; Giampietro PF; Hadigan C; Hadley DW; Harrison S; Levitt MA; Niforatos N; Paul SM; Raggio C; Reutter H; Warren-Mora N
J Pediatr; 2014 Mar; 164(3):451-7.e1. PubMed ID: 24332453
[No Abstract] [Full Text] [Related]
7. VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis; 2011 Aug; 6():56. PubMed ID: 21846383
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Clinical geneticists' views of VACTERL/VATER association.
Solomon BD; Bear KA; Kimonis V; de Klein A; Scott DA; Shaw-Smith C; Tibboel D; Reutter H; Giampietro PF
Am J Med Genet A; 2012 Dec; 158A(12):3087-100. PubMed ID: 23165726
[TBL] [Abstract][Full Text] [Related]
10. Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome.
Takeichi T; Sugiura K; Arai H; Ishii K; Kono M; Akiyama M
Acta Derm Venereol; 2013 Sep; 93(5):579-80. PubMed ID: 23450279
[No Abstract] [Full Text] [Related]
11. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
van de Putte R; van Rooij IALM; Marcelis CLM; Guo M; Brunner HG; Addor MC; Cavero-Carbonell C; Dias CM; Draper ES; Etxebarriarteun L; Gatt M; Haeusler M; Khoshnood B; Klungsoyr K; Kurinczuk JJ; Lanzoni M; Latos-Bielenska A; Luyt K; O'Mahony MT; Miller N; Mullaney C; Nelen V; Neville AJ; Perthus I; Pierini A; Randrianaivo H; Rankin J; Rissmann A; Rouget F; Schaub B; Tucker D; Wellesley D; Wiesel A; Zymak-Zakutnia N; Loane M; Barisic I; de Walle HEK; Roeleveld N; Bergman JEH
Pediatr Res; 2020 Feb; 87(3):541-549. PubMed ID: 31499513
[TBL] [Abstract][Full Text] [Related]
12. Radial Ray Malformation.
; Gandhi M; Rac MWF; McKinney J
Am J Obstet Gynecol; 2019 Dec; 221(6):B16-B18. PubMed ID: 31787159
[No Abstract] [Full Text] [Related]
13. VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report.
Puvabanditsin S; Van Gurp J; February M; Khalil M; Mayne J; Ai McConnell J; Mehta R
Fetal Pediatr Pathol; 2016; 35(2):133-41. PubMed ID: 26881326
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association.
Akdag A; Turgut A; Ceylan S; Kaya M
Genet Couns; 2016; 27(2):207-10. PubMed ID: 29485824
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. VACTERL association: a new case with biotinidase deficiency and annular pancreas.
Sezer RG; Aydemir G; Bozaykut A; Paketci C; Aydinoz S
Ren Fail; 2012; 34(1):123-5. PubMed ID: 22010814
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic diversity of patients diagnosed with VACTERL association.
Husain M; Dutra-Clarke M; Lemieux B; Wencel M; Solomon BD; Kimonis V
Am J Med Genet A; 2018 Sep; 176(9):1830-1837. PubMed ID: 30152190
[TBL] [Abstract][Full Text] [Related]
19. Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.
Ueda H; Sugiura T; Takeshita S; Ito K; Kakita H; Nagasaki R; Kurosawa K; Saitoh S
Eur J Pediatr; 2014 Nov; 173(11):1541-4. PubMed ID: 23933666
[TBL] [Abstract][Full Text] [Related]
20. Analysis of cardiac anomalies in VACTERL association.
Cunningham BK; Hadley DW; Hannoush H; Meltzer AC; Niforatos N; Pineda-Alvarez D; Sachdev V; Warren-Mora N; Solomon BD
Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):792-7. PubMed ID: 24343877
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]