Crolla J - Search Results

1

Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.

Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD. Robert ML, et al. Among authors: crolla j. Clin Dysmorphol. 2007 Oct;16(4):241-6. doi: 10.1097/MCD.0b013e3282358d21. Clin Dysmorphol. 2007. PMID: 17786115

2

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

Blyth M, Huang S, Maloney V, Crolla JA, Karen Temple I. Blyth M, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):672-8. doi: 10.1016/j.ejmg.2008.09.002. Epub 2008 Sep 19. Eur J Med Genet. 2008. PMID: 18848651

3

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. Among authors: crolla j. 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

4

Pallister-Killian syndrome: a study of 22 British patients.

Blyth M, Maloney V, Beal S, Collinson M, Huang S, Crolla J, Temple IK, Baralle D. Blyth M, et al. Among authors: crolla j. J Med Genet. 2015 Jul;52(7):454-64. doi: 10.1136/jmedgenet-2014-102877. Epub 2015 Apr 17. J Med Genet. 2015. PMID: 25888713

5

Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.

McBrien J, Crolla JA, Huang S, Kelleher J, Gleeson J, Lynch SA. McBrien J, et al. Among authors: crolla ja. Am J Med Genet A. 2008 Jun 15;146A(12):1587-92. doi: 10.1002/ajmg.a.32347. Am J Med Genet A. 2008. PMID: 18478595

6

Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion.

Rankin J, Allwood A, Canham N, Delmege C, Crolla J, Maloney V. Rankin J, et al. Among authors: crolla j. Clin Dysmorphol. 2009 Oct;18(4):222-4. doi: 10.1097/MCD.0b013e32832d0717. Clin Dysmorphol. 2009. PMID: 19641456 No abstract available.

7

Perspective on the technical challenges involved in the implementation of array-CGH in prenatal diagnostic testing.

Callaway JL, Huang S, Karampetsou E, Crolla JA. Callaway JL, et al. Mol Biotechnol. 2014 Apr;56(4):312-8. doi: 10.1007/s12033-013-9710-4. Mol Biotechnol. 2014. PMID: 24146428

8

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, Thompson P, Nawaz Z, Lese-Martin C, Tomkins S, Waits P, Rahman N, McEntagart M. Tatton-Brown K, et al. Am J Med Genet A. 2009 Feb;149A(2):147-54. doi: 10.1002/ajmg.a.32534. Am J Med Genet A. 2009. PMID: 19133692

9

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.

Krepischi AC, Rosenberg C, Costa SS, Crolla JA, Huang S, Vianna-Morgante AM. Krepischi AC, et al. Am J Med Genet A. 2010 Sep;152A(9):2376-8. doi: 10.1002/ajmg.a.33554. Am J Med Genet A. 2010. PMID: 20683986 No abstract available.

10

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. 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

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