Crolla JA - Search Results

1

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

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

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.

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

A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.

Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR. Crolla JA, et al. Am J Med Genet. 1997 Nov 12;72(4):440-7. doi: 10.1002/(sici)1096-8628(19971112)72:4<440::aid-ajmg13>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9375728

6

Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break.

Rivera H, Vasquez AI, García-Cruz D, Crolla JA. Rivera H, et al. Among authors: crolla ja. Am J Med Genet. 1999 Aug 6;85(4):385-8. doi: 10.1002/(sici)1096-8628(19990806)85:4<385::aid-ajmg15>3.0.co;2-p. Am J Med Genet. 1999. PMID: 10398265

7

A novel 2.43 Mb deletion of 7q11.22-q11.23.

Blyth M, Beal S, Huang S, Crolla J, Foulds N. Blyth M, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3206-10. doi: 10.1002/ajmg.a.32584. Am J Med Genet A. 2008. PMID: 19012340

8

A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion.

Collinson MN, Roberts SE, Crolla JA, Dennis NR. Collinson MN, et al. Among authors: crolla ja. Am J Med Genet A. 2004 Apr 1;126A(1):27-32. doi: 10.1002/ajmg.a.26565. Am J Med Genet A. 2004. PMID: 15039970

9

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature.

Crolla JA. Crolla JA. Am J Med Genet. 1998 Feb 3;75(4):367-81. Am J Med Genet. 1998. PMID: 9482642 Review.

10

FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases.

Crolla JA, Long F, Rivera H, Dennis NR. Crolla JA, et al. Am J Med Genet. 1998 Feb 3;75(4):355-66. doi: 10.1002/(sici)1096-8628(19980203)75:4<355::aid-ajmg4>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9482641

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