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Items: 1 to 20 of 84

1.

Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.

Howaldt A, Nampoothiri S, Yesodharan D, Udayakumaran S, Subash P, Kornak U.

J Hum Genet. 2019 Sep;64(9):867-873. doi: 10.1038/s10038-019-0638-9. Epub 2019 Jul 8.

PMID:
31285555
2.

Surgical approach of hypertelorbitism in craniofrontonasal dysplasia.

Denadai R, Roberto WM, Buzzo CL, Ghizoni E, Raposo-Amaral CA, Raposo-Amaral CE.

Rev Col Bras Cir. 2017 Jul-Aug;44(4):383-390. doi: 10.1590/0100-69912017004013. Portuguese, English.

3.

Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience.

Glass GE, Hon KA, Schweibert K, Bowman R, Jones BM, Dunaway DJ, Britto JA.

Plast Reconstr Surg. 2017 Apr;139(4):967-975. doi: 10.1097/PRS.0000000000003178.

PMID:
28350678
4.

EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.

Niethamer TK, Larson AR, O'Neill AK, Bershteyn M, Hsiao EC, Klein OD, Pomerantz JH, Bush JO.

Stem Cell Reports. 2017 Mar 14;8(3):529-537. doi: 10.1016/j.stemcr.2017.01.017. Epub 2017 Feb 23.

5.

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.

Inoue Y, Sakamoto Y, Sugimoto M, Inagaki H, Boda H, Miyata M, Kato H, Kurahashi H, Okumoto T.

Cleft Palate Craniofac J. 2018 Aug;55(7):1026-1029. doi: 10.1597/15-347. Epub 2018 Feb 26.

PMID:
28140668
6.

Unidirectional Eph/ephrin signaling creates a cortical actomyosin differential to drive cell segregation.

O'Neill AK, Kindberg AA, Niethamer TK, Larson AR, Ho HH, Greenberg ME, Bush JO.

J Cell Biol. 2016 Oct 24;215(2):217-229. Epub 2016 Oct 17.

7.

Surgical Strategies for Soft Tissue Management in Hypertelorbitism.

Raposo-Amaral CE, Denadai R, Ghizoni E, Raposo-Amaral CA.

Ann Plast Surg. 2017 Apr;78(4):421-427. doi: 10.1097/SAP.0000000000000915.

PMID:
27740959
8.

First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.

Yoo H, Ko JM, Lim BC, Cheong HI.

Ann Clin Lab Sci. 2016 Sep;46(5):544-8.

PMID:
27650623
9.

Depression and hyperactivity in two patients with craniofrontonasal syndrome.

Fischer M, Bänsch PS, Unterecker S, Romanos M, Deckert J.

Am J Med Genet A. 2016 Mar;170(3):799-800. doi: 10.1002/ajmg.a.37482. Epub 2015 Nov 19. No abstract available.

PMID:
26586496
10.

Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.

Yamamoto T, Igarashi N, Shimojima K, Sangu N, Sakamoto Y, Shimoji K, Niijima S.

Congenit Anom (Kyoto). 2016 Mar;56(2):91-3. doi: 10.1111/cga.12123.

PMID:
26208246
11.

Report of a family with craniofrontonasal syndrome.

Özylmaz B, Gezdirici A, Özen M, Kalenderer Ö.

Clin Dysmorphol. 2015 Apr;24(2):79-83. doi: 10.1097/MCD.0000000000000067.

PMID:
25486017
12.

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.

Goyal M, Pradhan G, Wieland I, Kapoor S.

Cleft Palate Craniofac J. 2015 Mar;52(2):234-6. doi: 10.1597/13-354. Epub 2014 Jun 11.

PMID:
24919122
13.

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D.

Am J Med Genet A. 2014 Feb;164A(2):346-52. doi: 10.1002/ajmg.a.36140. Epub 2013 Dec 13.

PMID:
24376213
14.

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.

15.

Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment.

Wolfswinkel EM, Weathers WM, Correa B, Buchanan EP, Hollier LH Jr.

J Craniofac Surg. 2013 Jul;24(4):1303-6. doi: 10.1097/SCS.0b013e3182942b5c.

PMID:
23851793
16.

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
17.

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
18.

Anomalous ovarian morphology in a patient with craniofrontonasal syndrome.

Rundle S, Castle B, Eckford SD.

J Obstet Gynaecol. 2013 Apr;33(3):316-7. doi: 10.3109/01443615.2012.743507. No abstract available.

PMID:
23550873
19.

Spring-assisted posterior vault expansion in multisuture craniosynostosis.

de Jong T, van Veelen ML, Mathijssen IM.

Childs Nerv Syst. 2013 May;29(5):815-20. doi: 10.1007/s00381-013-2033-8. Epub 2013 Jan 26.

PMID:
23354443
20.

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.

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