Publications by authors named "John A Crolla"

45Publications

De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?

Am J Med Genet A 2014 Dec 26;164A(12):3194-202. Epub 2014 Sep 26.

National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.36786DOI Listing
December 2014

Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?

Prenat Diagn 2014 Jan;34(1):18-22

Wessex Regional Genetics Laboratory, Salisbury, UK.

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http://dx.doi.org/10.1002/pd.4287DOI Listing
January 2014

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

Mol Biotechnol 2014 Apr;56(4):312-8

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK,

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http://dx.doi.org/10.1007/s12033-013-9710-4DOI Listing
April 2014

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

Am J Med Genet A 2013 Mar 23;161A(3):487-500. Epub 2013 Jan 23.

Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.35767DOI Listing
March 2013

The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome.

Eur J Pediatr Surg 2012 Apr 19;22(2):136-8. Epub 2012 Apr 19.

Department of Paediatric Surgery, Southampton General Hospital, Southampton, United Kingdom.

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http://dx.doi.org/10.1055/s-0032-1308691DOI Listing
April 2012

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

Eur J Hum Genet 2012 Feb 28;20(2):155-60. Epub 2011 Sep 28.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.

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http://dx.doi.org/10.1038/ejhg.2011.182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260930PMC
February 2012

Clinical utility gene card for: WAGR syndrome.

Eur J Hum Genet 2011 Apr 12;19(4). Epub 2011 Jan 12.

Department of Pediatrics, University of New Mexico, Albuquerque, NM, USA.

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http://dx.doi.org/10.1038/ejhg.2010.220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060328PMC
April 2011

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.

Am J Med Genet A 2010 Dec;152A(12):3124-8

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33567
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http://dx.doi.org/10.1002/ajmg.a.33567DOI Listing
December 2010

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

Am J Med Genet A 2010 Sep;152A(9):2376-8

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S~ao Paulo, S~ao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33554DOI Listing
September 2010

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting.

Am J Med Genet A 2010 Aug;152A(8):1990-3

Division of Human Genetics, University of Southampton School of Medicine, Southampton SO16 6YD, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33530
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http://dx.doi.org/10.1002/ajmg.a.33530DOI Listing
August 2010

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

J Med Genet 2010 Feb 27;47(2):112-5. Epub 2009 Jul 27.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8TE, UK.

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http://dx.doi.org/10.1136/jmg.2009.069716DOI Listing
February 2010

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

Eur J Med Genet 2008 Nov-Dec;51(6):672-8. Epub 2008 Sep 19.

Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, UK.

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http://dx.doi.org/10.1016/j.ejmg.2008.09.002DOI Listing
March 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

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

Eur J Hum Genet 2008 Nov 4;16(11):1301-10. Epub 2008 Jun 4.

Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada.

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http://dx.doi.org/10.1038/ejhg.2008.107DOI Listing
November 2008

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Am J Med Genet A 2008 Mar;146A(5):558-69

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1002/ajmg.a.32209DOI Listing
March 2008

Distribution of the D15Z1 copy number polymorphism.

Eur J Hum Genet 2007 Apr 21;15(4):441-5. Epub 2007 Feb 21.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201780DOI Listing
April 2007

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect.

Am J Med Genet A 2006 Mar;140(6):624-7

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.31129DOI Listing
March 2006

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.

Eur J Hum Genet 2005 Nov;13(11):1205-12

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201488DOI Listing
November 2005

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.

Eur J Hum Genet 2005 Feb;13(2):154-60

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201311DOI Listing
February 2005

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12).

Am J Med Genet A 2004 Mar;125A(2):177-80

Department of Obstetrics and Gynaecology, National University of Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.20482DOI Listing
March 2004

Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

Am J Hum Genet 2002 Nov 17;71(5):1138-49. Epub 2002 Oct 17.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom.

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http://dx.doi.org/10.1086/344396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC385089PMC
November 2002

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.

Hum Genet 2002 Mar 1;110(3):244-50. Epub 2002 Feb 1.

Southampton University School of Medicine, Human Genetics Division, Southampton General Hospital, Southampton SO16 6YD, UK.

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http://dx.doi.org/10.1007/s00439-002-0679-5DOI Listing
March 2002