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Results: 1 to 20 of 116

Similar articles for PubMed (Select 20734337)

1.

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.

Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A.

Am J Med Genet A. 2010 Oct;152A(10):2574-7. doi: 10.1002/ajmg.a.33596.

PMID:
20734337
2.

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie AO.

Eur J Hum Genet. 2006 Jul;14(7):884-7. Epub 2006 Apr 26.

3.

EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

Torii C, Izumi K, Nakajima H, Takahashi T, Kosaki K.

Congenit Anom (Kyoto). 2007 Mar;47(1):49-52.

PMID:
17300690
4.

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P.

Eur J Hum Genet. 2008 Feb;16(2):184-91. Epub 2007 Nov 28.

5.

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P.

Am J Hum Genet. 2004 Jun;74(6):1209-15. Epub 2004 Apr 29.

6.

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, Vincent-Delorme C, Thierry P, Edwards M, K├Ânig R, Rusu C, Schweiger S, Thompson E, Tinschert S, Stewart F, Wieacker P.

Hum Mutat. 2005 Aug;26(2):113-8.

PMID:
15959873
7.

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO.

Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. Epub 2004 May 27.

8.

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

Makarov R, Steiner B, Gucev Z, Tasic V, Wieacker P, Wieland I.

BMC Med Genet. 2010 Jun 17;11:98. doi: 10.1186/1471-2350-11-98.

9.

A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.

Seven M, Gezdirici A, Ulucan H, Karatas OF, Yosunkaya E, Yuksel A, Ozen M.

Gene. 2013 Sep 25;527(2):675-8. doi: 10.1016/j.gene.2013.06.038. Epub 2013 Jul 8.

PMID:
23845783
10.

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P.

Clin Genet. 2007 Dec;72(6):506-16. Epub 2007 Oct 16.

PMID:
17941886
11.

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO.

Am J Hum Genet. 2006 Jun;78(6):999-1010. Epub 2006 Apr 28.

12.

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

van den Elzen ME, Twigg SR, Goos JA, Hoogeboom AJ, van den Ouweland AM, Wilkie AO, Mathijssen IM.

Eur J Hum Genet. 2014 Aug;22(8):995-1001. doi: 10.1038/ejhg.2013.273. Epub 2013 Nov 27.

13.

A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome.

Shotelersuk V, Siriwan P, Ausavarat S.

Cleft Palate Craniofac J. 2006 Mar;43(2):152-4.

PMID:
16526919
14.

Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.

Brooks AS, van Dooren M, Hoogeboom J, Gischler S, Willems PJ, Tibboel D.

Clin Dysmorphol. 2002 Apr;11(2):151-3.

PMID:
12002152
15.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO.

Hum Mol Genet. 2013 Apr 15;22(8):1654-62. doi: 10.1093/hmg/ddt015. Epub 2013 Jan 17.

16.

Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox.

Evers C, Jungwirth MS, Morgenthaler J, Hinderhofer K, Maas B, Janssen JW, Jauch A, Hehr U, Steinbeisser H, Moog U.

Clin Genet. 2014 Apr;85(4):347-53. doi: 10.1111/cge.12171. Epub 2013 May 28.

PMID:
23614707
17.

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

Petit F, Andrieux J, Holder-Espinasse M, Bouquillon S, Pennaforte T, Storme L, Manouvrier-Hanu S.

Eur J Med Genet. 2011 Sep-Oct;54(5):e525-7. doi: 10.1016/j.ejmg.2011.06.011. Epub 2011 Jul 14.

PMID:
21782985
18.

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Babbs C, Stewart HS, Williams LJ, Connell L, Goriely A, Twigg SR, Smith K, Lester T, Wilkie AO.

Hum Mutat. 2011 Aug;32(8):930-8. doi: 10.1002/humu.21521. Epub 2011 Jul 12.

19.

Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia.

Langer JC, Winthrop AL, Whelan D.

J Pediatr Surg. 1994 Sep;29(9):1266-7.

PMID:
7807364
20.

Additional EFNB1 mutations in craniofrontonasal syndrome.

Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M.

Am J Med Genet A. 2008 Aug 1;146A(15):2008-12. doi: 10.1002/ajmg.a.32388. No abstract available.

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