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Results: 1 to 20 of 74

Select item 234370001.

Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.

Vlangos CN, Siuniak AN, Robinson D, Chinnaiyan AM, Lyons RH Jr, Cavalcoli JD, Keegan CE.

PLoS Genet. 2013;9(2):e1003205. doi: 10.1371/journal.pgen.1003205. Epub 2013 Feb 21.

PMID:: 23437000; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 231937522.

Aberrant abdominal umbilical arteries in VACTERL--association: a first case report.

Peonim V, Sujirachato K, Udnoon J, Chudoung U, Wongwichai S.

J Med Assoc Thai. 2012 Oct;95(10):1352-6.

PMID:: 23193752; [PubMed - indexed for MEDLINE]

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Select item 231814973.

Novel association of VACTERL, neural tube defect and crossed renal ectopia: sonic hedgehog signaling: a point of coherence?

Vaze D, Mahalik S, Rao KL.

Congenit Anom (Kyoto). 2012 Dec;52(4):211-5. doi: 10.1111/j.1741-4520.2011.00354.x.

PMID:: 23181497; [PubMed - indexed for MEDLINE]

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Select item 231559224.

VACTERL association or VATER syndrome.

O'Connor MB, Murphy M, Phelan MJ.

Ir Med J. 2012 Sep;105(8):284-5. No abstract available.

PMID:: 23155922; [PubMed - indexed for MEDLINE]

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Select item 229912045.

Surgical correction of tracheo-oesophageal fistula and oesophageal atresia in infants with VACTERL association: a retrospective case-control study.

Morgan RD, O'Callaghan JM, Wagener S, Grant HW, Lakhoo K.

Pediatr Surg Int. 2012 Oct;28(10):967-70. Epub 2012 Aug 22.

PMID:: 22991204; [PubMed - indexed for MEDLINE]

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Select item 229787936.

Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study.

Zwink N, Jenetzky E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Weih S, Hosie S, Reifferscheid P, Ameis H, Kujath C, Rissmann A, Obermayr F, Schwarzer N, Bartels E, Reutter H, Brenner H; CURE-Net Consortium.

Orphanet J Rare Dis. 2012 Sep 15;7:65. doi: 10.1186/1750-1172-7-65.

PMID:: 22978793; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 228950087.

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.

Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CH, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC, Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, van Rooij IA, Solomon BD, Reutter HM.

Clin Dysmorphol. 2012 Oct;21(4):191-5. Review.

PMID:: 22895008; [PubMed - indexed for MEDLINE]

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Select item 228477498.

Agenesis of the internal carotid artery: associated malformations including a high rate of aortic and cardiac malformations.

Fitzgerald RT, Zuccoli G.

Pediatr Radiol. 2012 Nov;42(11):1333-8. doi: 10.1007/s00247-012-2455-6. Epub 2012 Jul 31.

PMID:: 22847749; [PubMed - indexed for MEDLINE]

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Select item 228165589.

Sirenomelia: case reports and current concepts of pathogenesis.

Pillay M, Yesodharan D, Narayanan DL, Jojo A, Luiz N, Nampoothiri S.

Pediatr Dev Pathol. 2012 Sep-Oct;15(5):403-6. doi: 10.2350/12-05-1199-CC.1. Epub 2012 Jul 20.

PMID:: 22816558; [PubMed - indexed for MEDLINE]

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Select item 2267354410.

Ureteral ectopia inserting into ipsilateral epididymis resulting in inflammatory paratesticular tumor.

Mally AD, Fox JA, Cannon GC.

Urology. 2012 Sep;80(3):710-3. doi: 10.1016/j.urology.2012.04.037. Epub 2012 Jun 5.

PMID:: 22673544; [PubMed - indexed for MEDLINE]

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Select item 2266042111.

Sirenomelia: four further cases with discussion of associated upper limb defects.

Moosa S, Lambie LA, Krause A.

Clin Dysmorphol. 2012 Jul;21(3):124-30. doi: 10.1097/MCD.0b013e328354e51b.

PMID:: 22660421; [PubMed - indexed for MEDLINE]

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Select item 2263945812.

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.

Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA.

Am J Med Genet A. 2012 Jul;158A(7):1785-7. doi: 10.1002/ajmg.a.35391. Epub 2012 May 25. No abstract available.

PMID:: 22639458; [PubMed - indexed for MEDLINE]

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Select item 2258112413.

Inheritance of the VATER/VACTERL association.

Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rissmann A, Nöthen MM, Reutter H, Zwink N.

Pediatr Surg Int. 2012 Jul;28(7):681-5. doi: 10.1007/s00383-012-3100-z. Epub 2012 May 12.

PMID:: 22581124; [PubMed - indexed for MEDLINE]

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Select item 2248298914.

Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association.

Chen CP, Shih JC, Huang MC, Liu YP, Su JW, Chern SR, Wang W.

Taiwan J Obstet Gynecol. 2012 Mar;51(1):139-42. doi: 10.1016/j.tjog.2012.01.031. No abstract available.

PMID:: 22482989; [PubMed - indexed for MEDLINE]

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Select item 2245150415.

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D.

Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065. Epub 2012 Mar 26.

PMID:: 22451504; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2242237516.

Familial occurrence of the VATER/VACTERL association.

Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nöthen MM, Reutter H, Ludwig M.

Pediatr Surg Int. 2012 Jul;28(7):725-9. doi: 10.1007/s00383-012-3073-y. Epub 2012 Mar 16. Review.

PMID:: 22422375; [PubMed - indexed for MEDLINE]

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Select item 2231575117.

VACTERL Association.

Pandey DB, Pednekar SJ, Chavan SA, Korivi D, Shah AK, Kulkarni UP.

J Assoc Physicians India. 2011 Jul;59:447-9.

PMID:: 22315751; [PubMed - indexed for MEDLINE]

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Select item 2231365218.

Urorectal septum malformation sequence in a newborn with VACTERL association.

Patra S, Purkait R.

J Coll Physicians Surg Pak. 2012 Feb;22(2):116-7. doi: 02.2012/JCPSP.116117.

PMID:: 22313652; [PubMed - indexed for MEDLINE]

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Select item 2230042719.

Clinical characteristics of neonates with VACTERL association.

Oral A, Caner I, Yigiter M, Kantarci M, Olgun H, Ceviz N, Salman AB.

Pediatr Int. 2012 Jun;54(3):361-4. doi: 10.1111/j.1442-200X.2012.03566.x. Epub 2012 Apr 9.

PMID:: 22300427; [PubMed - indexed for MEDLINE]

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Select item 2224685320.

Associated malformations among infants with anophthalmia and microphthalmia.

Stoll C, Dott B, Alembik Y, Roth MP.

Birth Defects Res A Clin Mol Teratol. 2012 Mar;94(3):147-52. doi: 10.1002/bdra.22877. Epub 2012 Jan 13.

PMID:: 22246853; [PubMed - indexed for MEDLINE]

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Supplemental Content

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15 free full-text articles in PubMed Central

Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression. [PLoS Genet. 2013]
Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.
Vlangos CN, Siuniak AN, Robinson D, Chinnaiyan AM, Lyons RH Jr, Cavalcoli JD, Keegan CE. PLoS Genet. 2013; 9(2):e1003205. Epub 2013 Feb 21.
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study. [Orphanet J Rare Dis. 2012]
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study.
Zwink N, Jenetzky E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Weih S, Hosie S, Reifferscheid P, et al. Orphanet J Rare Dis. 2012 Sep 15; 7:65. Epub 2012 Sep 15.
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. [Brain. 2012]
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, et al. Brain. 2012 May; 135(Pt 5):1370-86. Epub 2012 Mar 26.

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