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Items: 1 to 20 of 102

1.

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

Wieacker P, Wieland I.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):110-6. Review.

PMID:
16143553
2.

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.

3.

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
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.

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
6.

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.

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.

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.

9.

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
10.

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
11.
12.

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
13.

Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.

Wieland I, Bohring A, Wieacker P.

Hum Genet. 2008 Feb;123(1):105. No abstract available.

PMID:
18386327
14.

Craniofrontonasal dysplasia: more severe expression in the mother than in her son.

Devriendt K, Van Mol C, Fryns JP.

Genet Couns. 1995;6(4):361-4.

PMID:
8775424
15.

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
16.

Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.

Wieland I, Wieacker P, Prager B.

Hum Genet. 2008 Feb;123(1):105. No abstract available.

PMID:
18386322
17.

A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome.

Apostolopoulou D, Stratoudakis A, Hatzaki A, Kaxira OS, Panagopoulos KP, Kollia P, Aleporou V.

Cleft Palate Craniofac J. 2012 Jan;49(1):109-13. doi: 10.1597/10-247. Epub 2011 Feb 27.

PMID:
21385071
18.

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.

19.

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.

20.

Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations.

Grutzner E, Gorlin RJ.

Oral Surg Oral Med Oral Pathol. 1988 Apr;65(4):436-44. Review.

PMID:
3283635
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