Crolla JA - Search Results

1

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

Thomas NS, Browne CE, Oley C, Healey S, Crolla JA. Thomas NS, et al. Among authors: crolla ja. Hum Genet. 1999 Nov;105(5):384-7. doi: 10.1007/s004390051120. Hum Genet. 1999. PMID: 10598802

2

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA. Baptista J, et al. Among authors: crolla ja. Am J Hum Genet. 2008 Apr;82(4):927-36. doi: 10.1016/j.ajhg.2008.02.012. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371933 Free PMC article.

3

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

Crolla JA, Cross I, Atkey N, Wright M, Oley CA. Crolla JA, et al. J Med Genet. 1996 Jan;33(1):66-8. doi: 10.1136/jmg.33.1.66. J Med Genet. 1996. PMID: 8825052 Free PMC article.

4

Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

Roberts SE, Maggouta F, Thomas NS, Jacobs PA, Crolla JA. Roberts SE, et al. Among authors: crolla ja. Am J Hum Genet. 2003 Nov;73(5):1061-72. doi: 10.1086/379155. Epub 2003 Oct 14. Am J Hum Genet. 2003. PMID: 14560400 Free PMC article.

5

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.

Thomas NS, Morris JK, Baptista J, Ng BL, Crolla JA, Jacobs PA. Thomas NS, et al. Among authors: crolla ja. J Med Genet. 2010 Feb;47(2):112-5. doi: 10.1136/jmg.2009.069716. Epub 2009 Jul 27. J Med Genet. 2010. PMID: 19638350

6

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.

Sibbons C, Morris JK, Crolla JA, Jacobs PA, Thomas NS. Sibbons C, et al. Among authors: crolla ja. Eur J Hum Genet. 2012 Feb;20(2):155-60. doi: 10.1038/ejhg.2011.182. Epub 2011 Sep 28. Eur J Hum Genet. 2012. PMID: 21952720 Free PMC article.

7

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, Banks V, Ellingwood S, Kharbutli Y, Mehta L, Eddleman KA, Marble M, Zambrano R, Crolla JA, Lamb AN. Barber JC, et al. Among authors: crolla ja. Am J Med Genet A. 2013 Mar;161A(3):487-500. doi: 10.1002/ajmg.a.35767. Epub 2013 Jan 23. Am J Med Genet A. 2013. PMID: 23345203

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

Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities.

Cockwell AE, Maloney VK, Thomas NS, Smith EL, Gonda P, Bass P, Crolla JA. Cockwell AE, et al. Among authors: crolla ja. Cytogenet Genome Res. 2006;112(1-2):166-9. doi: 10.1159/000087530. Cytogenet Genome Res. 2006. PMID: 16276107

10

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: crolla ja. Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175500 Free PMC article.

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