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Items: 1 to 20 of 244

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.

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.

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.

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.

5.

VACTERL/VATER Association.

Solomon BD.

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

6.

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
7.

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
8.

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
9.

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.

10.

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
11.

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
12.

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
13.

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.

14.

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. doi: 10.1016/j.jpeds.2013.10.086. Epub 2013 Dec 12. Review. No abstract available.

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.
18.

Scimitar syndrome in a case with VACTERL association.

Fritz CJ, Reutter HM, Herberg U.

Cardiol Young. 2015 Mar;25(3):606-9. doi: 10.1017/S1047951114000924. Epub 2014 Jun 6.

PMID:
24905790
19.

Structural and numerical changes of chromosome X in patients with esophageal atresia.

Brosens E, de Jong EM, Barakat TS, Eussen BH, D'haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A.

Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. Epub 2014 Jan 8.

20.

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.

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