Crolla J - Search Results

1

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.

Alatzoglou KS, Andoniadou CL, Kelberman D, Buchanan CR, Crolla J, Arriazu MC, Roubicek M, Moncet D, Martinez-Barbera JP, Dattani MT. Alatzoglou KS, et al. Among authors: crolla j. Hum Mutat. 2011 Dec;32(12):1376-80. doi: 10.1002/humu.21606. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21919124 Free PMC article.

2

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.

Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. Kelberman D, et al. J Clin Endocrinol Metab. 2008 May;93(5):1865-73. doi: 10.1210/jc.2007-2337. Epub 2008 Feb 19. J Clin Endocrinol Metab. 2008. PMID: 18285410 Free PMC article.

3

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N. Wyatt A, et al. Among authors: crolla ja. Hum Mutat. 2008 Nov;29(11):E278-83. doi: 10.1002/humu.20869. Hum Mutat. 2008. PMID: 18781617

4

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. Bakrania P, et al. Among authors: crolla ja. Br J Ophthalmol. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. Epub 2007 May 23. Br J Ophthalmol. 2007. PMID: 17522144 Free PMC article.

5

Nonisotopic in situ hybridization. Clinical cytogenetics and gene mapping applications.

Adinolfi M, Crolla J. Adinolfi M, et al. Among authors: crolla j. Adv Hum Genet. 1994;22:187-255. Adv Hum Genet. 1994. PMID: 7762453 Review. No abstract available.

6

A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique.

Crolla JA, Llerena JC Jr. Crolla JA, et al. Hum Genet. 1988 Dec;81(1):81-4. doi: 10.1007/BF00283735. Hum Genet. 1988. PMID: 3198130

7

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.

8

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. 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.

9

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.

10

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions.

Bunyan DJ, Crolla JA, Collins AL, Robinson DO. Bunyan DJ, et al. Among authors: crolla ja. Hum Genet. 1995 Jan;95(1):43-5. doi: 10.1007/BF00225072. Hum Genet. 1995. PMID: 7814024

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