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Select item 44944971.

Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation

Bharesh K. Chauhan, Jacqueline M. Hoover, Hannah Scanga, Anagha Medsinge, Georgianne L. Arnold, Ken K. Nischal

Plast Reconstr Surg Glob Open. 2015 Jun; 3(6): e427. Published online 2015 Jul 8. doi: 10.1097/GOX.0000000000000369

PMCID:: PMC4494497

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Select item 101724552.

No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B

Iman Ibrahim, Tara Scriver, Shuaa A. Basalom

Clin Case Rep. 2023 May; 11(5): e7332. Published online 2023 May 10. doi: 10.1002/ccr3.7332

PMCID:: PMC10172455

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Select item 98452543.

Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman

Harry Pachajoa, Diana Marcela Vasquez-Forero, Sebastian Giraldo-Ocampo

Front Genet. 2022; 13: 1092301. Published online 2023 Jan 4. doi: 10.3389/fgene.2022.1092301

PMCID:: PMC9845254

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Select item 97847584.

Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity?

Sebla Güneş, Jiangping Wu, Berk Özyılmaz, Reyhan Deveci Sevim, Tolga Ünüvar, Ahmet Anık

Pharmaceuticals (Basel) 2022 Dec; 15(12): 1535. Published online 2022 Dec 10. doi: 10.3390/ph15121535

PMCID:: PMC9784758

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Select item 84366575.

Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation

Semra Gürsoy, Filiz Hazan, Tülay Öztürk, Rüya Çolak, Şebnem Çalkavur

Mol Syndromol. 2021 Aug; 12(5): 269–278. Published online 2021 Jul 12. doi: 10.1159/000515697

PMCID:: PMC8436657

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Select item 82361996.

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer

Orphanet J Rare Dis. 2021; 16: 286. Published online 2021 Jun 26. doi: 10.1186/s13023-021-01914-1

PMCID:: PMC8236199

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Select item 64221427.

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

Vanessa L. Romanelli Tavares, Erika Kague, Camila M. Musso, Thiago G.P. Alegria, Renato S. Freitas, Debora R. Bertola, Stephen R.F. Twigg, Maria R. Passos-Bueno

Mol Syndromol. 2019 Feb; 10(1-2): 40–47. Published online 2018 Jul 3. doi: 10.1159/000490635

PMCID:: PMC6422142

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Select item 53556328.

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

Terren K. Niethamer, Andrew R. Larson, Audrey K. O’Neill, Marina Bershteyn, Edward C. Hsiao, Ophir D. Klein, Jason H. Pomerantz, Jeffrey O. Bush

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

PMCID:: PMC5355632

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Select item 48623959.

A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype

Jaime Toral-López, Luz M. González-Huerta, Olga Messina Baas, Sergio A. Cuevas-Covarrubias

Mol Syndromol. 2016 Apr; 7(1): 32–36. Published online 2016 Mar 19. doi: 10.1159/000444771

PMCID:: PMC4862395

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Select item 428779310.

Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome

Oscar F. Chacon-Camacho, Rocio Arce-Gonzalez, Vanessa Villegas-Ruiz, Erika Pelcastre-Luna, Conrado E. Uría-Gómez, Mariella Granillo-Alvarez, Juan C. Zenteno

Meta Gene. 2014 Dec; 2: 25–31. Published online 2013 Nov 28. doi: 10.1016/j.mgene.2013.11.001

PMCID:: PMC4287793

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Select item 409614911.

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

M E P van den Elzen, S R F Twigg, J A C Goos, A J M Hoogeboom, A M W van den Ouweland, A O M Wilkie, I M J Mathijssen

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

PMCID:: PMC4096149

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Select item 360583412.

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

Stephen R.F. Twigg, Christian Babbs, Marijke E.P. van den Elzen, Anne Goriely, Stephen Taylor, Simon J. McGowan, Eleni Giannoulatou, Lorne Lonie, Jiannis Ragoussis, Elham Sadighi Akha, Samantha J.L. Knight, Roseli M. Zechi-Ceide, Jeannette A.M. Hoogeboom, Barbara R. Pober, Helga V. Toriello, Steven A. Wall, M. Rita Passos-Bueno, Han G. Brunner, Irene M.J. Mathijssen, Andrew O.M. Wilkie

Hum Mol Genet. 2013 Apr 15; 22(8): 1654–1662. Published online 2013 Jan 17. doi: 10.1093/hmg/ddt015

PMCID:: PMC3605834

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Select item 359493113.

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, A. Cardenas-Conejo, J. C. Zenteno

Case Rep Genet. 2013; 2013: 349725. Published online 2013 Feb 21. doi: 10.1155/2013/349725

PMCID:: PMC3594931

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Select item 290121614.

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

Roman Makarov, Bernhard Steiner, Zoran Gucev, Velibor Tasic, Peter Wieacker, Ilse Wieland

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

PMCID:: PMC2901216

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Select item 147410815.

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Stephen R. F. Twigg, Kazuya Matsumoto, Alexa M. J. Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M. J. Mathijssen, M. Teresa Lourenço, Jenny E. V. Morton, Elizabeth Sweeney, Louise C. Wilson, Han G. Brunner, John B. Mulliken, Steven A. Wall, Andrew O. M. Wilkie

Am J Hum Genet. 2006 Jun; 78(6): 999–1010. Published online 2006 Apr 28. doi: 10.1086/504440