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Items: 1 to 20 of 242

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. doi: 10.1002/ajmg.a.33913. Epub 2011 Sep 9.

PMID:
21910217
2.

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Savage SA, Ballew BJ, Giri N; NCI DCEG Cancer Genomics Research Laboratory, Chandrasekharappa SC, Ameziane N, de Winter J, Alter BP; NCI DCEG Cancer Sequencing Working Group.

Am J Med Genet A. 2016 Feb;170A(2):386-391. doi: 10.1002/ajmg.a.37461. Epub 2015 Nov 21.

PMID:
26590883
3.

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. doi: 10.1002/ajmg.a.34296. Epub 2011 Nov 3.

PMID:
22052692
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. Epub 2006 May 5.

5.

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. doi: 10.1002/bdra.23205. Epub 2013 Dec 5.

PMID:
24307608
6.

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 Jan 9;9(1):e85313. doi: 10.1371/journal.pone.0085313. eCollection 2014.

7.

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. doi: 10.1002/bdra.23278. Epub 2014 Aug 8.

PMID:
25131394
8.

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. doi: 10.1002/humu.22784. Epub 2015 Apr 7.

PMID:
25754594
9.

VACTERL/VATER Association.

Solomon BD.

Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Review.

10.

Sonic Hedgehog, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications.

Lubinsky M.

Am J Med Genet A. 2015 Nov;167A(11):2594-8. doi: 10.1002/ajmg.a.37257. Epub 2015 Jul 21. Review.

PMID:
26198446
11.

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. doi: 10.3892/mmr.2015.3486. Epub 2015 Mar 13.

PMID:
25775927
12.

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
13.

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.

PMID:
25059024
14.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PMID:
16684786
15.

UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION.

Ertugrul I, Dogan V, Beken S, Ozgur S, Okumuş N, Orün UA, Karademir S.

Genet Couns. 2015;26(2):273-6. No abstract available.

PMID:
26349203
16.

PCSK5 mutation in a patient with the VACTERL association.

Nakamura Y, Kikugawa S, Seki S, Takahata M, Iwasaki N, Terai H, Matsubara M, Fujioka F, Inagaki H, Kobayashi T, Kimura T, Kurahashi H, Kato H.

BMC Res Notes. 2015 Jun 9;8:228. doi: 10.1186/s13104-015-1166-0.

17.

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 10;39:45. doi: 10.1186/1824-7288-39-45.

18.

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. doi: 10.1097/MCD.0000000000000111. No abstract available.

PMID:
26683739
19.

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 4;93(5):579-80. doi: 10.2340/00015555-1526. No abstract available.

20.

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.

Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F.

Hum Mutat. 2015 Dec;36(12):1150-4. doi: 10.1002/humu.22859. Epub 2015 Sep 14.

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