Just W - Search Results

1

Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.

Galliani E, Burglen L, Kadlub N, Just W, Sznajer Y, de Villemeur TB, Soupre V, Picard A, Vazquez MP. Galliani E, et al. Among authors: just w. Cleft Palate Craniofac J. 2012 May;49(3):357-64. doi: 10.1597/10-203. Epub 2011 May 3. Cleft Palate Craniofac J. 2012. PMID: 21539471

2

Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W. Reiber J, et al. Among authors: just w. Am J Med Genet A. 2010 Apr;152A(4):994-9. doi: 10.1002/ajmg.a.33331. Am J Med Genet A. 2010. PMID: 20358615

3

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.

Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W. Reiber J, et al. Among authors: just w. Am J Med Genet A. 2010 Aug;152A(8):2143. doi: 10.1002/ajmg.a.33512. Am J Med Genet A. 2010. PMID: 20635357 No abstract available.

4

[Branchio-oculo-facial syndrome].

Frascari F, Bieth E, Galinier P, Just W, Mazereeuw-Hautier J. Frascari F, et al. Among authors: just w. Ann Dermatol Venereol. 2012 Aug-Sep;139(8-9):550-4. doi: 10.1016/j.annder.2012.05.006. Epub 2012 Jul 6. Ann Dermatol Venereol. 2012. PMID: 22963965 French.

5

Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.

Abbo O, Bieth E, Ballouhey Q, Vaysse F, Just W, Galinier P. Abbo O, et al. Among authors: just w. J Plast Reconstr Aesthet Surg. 2012 Nov;65(11):1573-5. doi: 10.1016/j.bjps.2012.03.045. Epub 2012 Apr 24. J Plast Reconstr Aesthet Surg. 2012. PMID: 22537416

6

Exclusion of the SALL1 gene as a cause of branchio-oculo-facial syndrome.

Just W, Trautmann T, Baumstark A, Müller D. Just W, et al. Am J Med Genet A. 2003 Mar 1;117A(2):196-8. doi: 10.1002/ajmg.a.10905. Am J Med Genet A. 2003. PMID: 12567424 No abstract available.

7

Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement.

Lugli L, Just W, Genovese E, Palma S, Ferrari F, Percesepe A. Lugli L, et al. Among authors: just w. Clin Dysmorphol. 2015 Jan;24(1):17-20. doi: 10.1097/MCD.0000000000000061. Clin Dysmorphol. 2015. PMID: 25325184 No abstract available.

8

Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities.

Trummer T, Müller D, Schulze A, Vogel W, Just W. Trummer T, et al. Among authors: just w. J Med Genet. 2002 Jan;39(1):71-3. doi: 10.1136/jmg.39.1.71. J Med Genet. 2002. PMID: 11826031 Free PMC article. No abstract available.

9

The gene for branchio-oculo-facial syndrome does not colocalize to the EYA1-4 genes.

Correa-Cerro LS, Kennerknecht I, Just W, Vogel W, Müller D. Correa-Cerro LS, et al. Among authors: just w. J Med Genet. 2000 Aug;37(8):620-3. doi: 10.1136/jmg.37.8.620. J Med Genet. 2000. PMID: 10991692 Free PMC article. No abstract available.

10

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D. Zweier C, et al. Among authors: just w. J Med Genet. 2013 Dec;50(12):838-47. doi: 10.1136/jmedgenet-2013-101918. Epub 2013 Oct 3. J Med Genet. 2013. PMID: 24092917

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