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Items: 1 to 20 of 140

1.

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO.

J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.

2.

Clinical genetics of craniosynostosis.

Wilkie AOM, Johnson D, Wall SA.

Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542. Review.

3.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T.

Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7.

PMID:
29215649
4.

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

Kutkowska-Kaźmierczak A, Gos M, Obersztyn E.

J Appl Genet. 2018 May;59(2):133-147. doi: 10.1007/s13353-017-0423-4. Epub 2018 Feb 1. Review. Erratum in: J Appl Genet. 2018 Mar 16;:.

PMID:
29392564
5.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A, Lester T.

Am J Med Genet A. 2007 Aug 15;143A(16):1941-9. Review.

PMID:
17621648
6.

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

7.

Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.

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

Cleft Palate Craniofac J. 2018 Jan 1:1055665618760412. doi: 10.1177/1055665618760412. [Epub ahead of print]

PMID:
29561715
8.

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Ye X, Guilmatre A, Reva B, Peter I, Heuzé Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA.

Plast Reconstr Surg. 2016 Mar;137(3):952-61. doi: 10.1097/01.prs.0000479978.75545.ee.

9.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE.

Eur J Hum Genet. 2015 Jul;23(7):907-14. doi: 10.1038/ejhg.2014.205. Epub 2014 Oct 1.

10.

Genetics of Nonsyndromic Craniosynostosis.

Timberlake AT, Persing JA.

Plast Reconstr Surg. 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374.

PMID:
29579021
11.

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR, Sertié AL, Jehee FS, Fanganiello R, Yeh E.

Front Oral Biol. 2008;12:107-143. doi: 10.1159/000115035. Review.

PMID:
18391498
12.

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M.

Am J Med Genet A. 2015 Nov;167A(11):2657-63. doi: 10.1002/ajmg.a.37259. Epub 2015 Aug 6. Review.

PMID:
26249544
13.

Genetic basis of potential therapeutic strategies for craniosynostosis.

Melville H, Wang Y, Taub PJ, Jabs EW.

Am J Med Genet A. 2010 Dec;152A(12):3007-15. doi: 10.1002/ajmg.a.33703. Review.

PMID:
21082653
14.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS.

Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.

15.

Genetics of craniosynostosis: review of the literature.

Ciurea AV, Toader C.

J Med Life. 2009 Jan-Mar;2(1):5-17. Review.

16.

Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.

Xu Y, Sun S, Li N, Yu T, Wang X, Wang J, Bao N.

Gene. 2018 Jan 30;641:144-150. doi: 10.1016/j.gene.2017.10.041. Epub 2017 Oct 14.

PMID:
29037998
17.

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

Timberlake AT, Furey CG, Choi J, Nelson-Williams C; Yale Center for Genome Analysis, Loring E, Galm A, Kahle KT, Steinbacher DM, Larysz D, Persing JA, Lifton RP.

Proc Natl Acad Sci U S A. 2017 Aug 29;114(35):E7341-E7347. doi: 10.1073/pnas.1709255114. Epub 2017 Aug 14.

18.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T.

Am J Med Genet A. 2006 Dec 1;140(23):2631-9. Review.

PMID:
16838304
19.

Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis.

Coussens AK, Wilkinson CR, Hughes IP, Morris CP, van Daal A, Anderson PJ, Powell BC.

BMC Genomics. 2007 Dec 12;8:458.

20.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11.

PMID:
24127277

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