Crolla JA - Search Results

1

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Brémond-Gignac D, et al. Among authors: crolla ja. Eur J Hum Genet. 2005 Apr;13(4):409-13. doi: 10.1038/sj.ejhg.5201358. Eur J Hum Genet. 2005. PMID: 15702131

2

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.

Brémond-Gignac D, Gérard-Blanluet M, Copin H, Bitoun P, Baumann C, Crolla JA, Benzacken B, Verloes A. Brémond-Gignac D, et al. Among authors: crolla ja. Am J Med Genet A. 2005 May 1;134(4):422-5. doi: 10.1002/ajmg.a.30646. Am J Med Genet A. 2005. PMID: 15779023

3

Clinical utility gene card for: WAGR syndrome.

Clericuzio C, Hingorani M, Crolla JA, van Heyningen V, Verloes A. Clericuzio C, et al. Among authors: crolla ja. Eur J Hum Genet. 2011 Apr;19(4). doi: 10.1038/ejhg.2010.220. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224893 Free PMC article. No abstract available.

4

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G. Jedraszak G, et al. Am J Med Genet A. 2015 Mar;167A(3):504-11. doi: 10.1002/ajmg.a.36882. Epub 2015 Jan 8. Am J Med Genet A. 2015. PMID: 25572454 Review.

5

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.

Lynch SA, Foulds N, Thuresson AC, Collins AL, Annerén G, Hedberg BO, Delaney CA, Iremonger J, Murray CM, Crolla JA, Costigan C, Lam W, Fitzpatrick DR, Regan R, Ennis S, Sharkey F. Lynch SA, et al. Among authors: crolla ja. Eur J Hum Genet. 2011 May;19(5):534-9. doi: 10.1038/ejhg.2010.215. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267005 Free PMC article.

6

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.

Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, Takano T, Vasudevan P, Huang S, Maloney V, Yobb T, Quarrell O, McDermid HE. Wilson HL, et al. Among authors: crolla ja. Eur J Hum Genet. 2008 Nov;16(11):1301-10. doi: 10.1038/ejhg.2008.107. Epub 2008 Jun 4. Eur J Hum Genet. 2008. PMID: 18523453

7

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A, Loeys B, Hirschhorn J, Pfotenhauer J, Phillips JA 3rd, Mohammed S, Ogilvie C, Crolla J, Mortier G, Menten B. Vergult S, et al. Among authors: crolla j. Eur J Hum Genet. 2012 May;20(5):534-9. doi: 10.1038/ejhg.2011.239. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166941 Free PMC article.

8

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.

Crolla JA, Cawdery JE, Oley CA, Young ID, Gray J, Fantes J, van Heyningen V. Crolla JA, et al. J Med Genet. 1997 Mar;34(3):207-12. doi: 10.1136/jmg.34.3.207. J Med Genet. 1997. PMID: 9132491 Free PMC article.

9

Bilateral preaxial polydactyly in a WAGR syndrome patient.

Manoukian S, Crolla JA, Mammoliti PM, Testi MA, Zanini R, Carpanelli ML, Piozzi E, Sozzi G, De Vecchi G, Terenziani M, Spreafico F, Collini P, Radice P, Perotti D. Manoukian S, et al. Among authors: crolla ja. Am J Med Genet A. 2005 May 1;134(4):426-9. doi: 10.1002/ajmg.a.30647. Am J Med Genet A. 2005. PMID: 15742368

10

A search for uniparental disomy in carriers of supernumerary marker chromosomes.

James RS, Temple IK, Dennis NR, Crolla JA. James RS, et al. Among authors: crolla ja. Eur J Hum Genet. 1995;3(1):21-6. doi: 10.1159/000472270. Eur J Hum Genet. 1995. PMID: 7767653

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