OpenURL Connection Search

Select item for more details and to access through your institution.

Cover Image, Volume 173A, Number 1, January 2017.
Published in:
2017
By:
- O'Byrne, James J.;
- Ryan, Helen;
- Murray, Dylan J.;
- Regan, Regina;
- Betts, David R.;
- Murphy, Nuala;
- Casey, Jillian P.;
- Lynch, Sally A.
Publication type:
Other
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 274, doi. 10.1002/ajmg.a.38001
By:
- O'Byrne, James J.;
- Ryan, Helen;
- Murray, Dylan J.;
- Regan, Regina;
- Betts, David R.;
- Murphy, Nuala;
- Casey, Jillian P.;
- Lynch, Sally A.
Publication type:
Article
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2958, doi. 10.1002/ajmg.a.36712
By:
- Seoighe, Deirdre Máire;
- Gadancheva, Veselina;
- Regan, Regina;
- McDaid, Jennifer;
- Brenner, Clare;
- Ennis, Sean;
- Betts, David Richard;
- Eadie, Patricia Anne;
- Lynch, Sally Ann
Publication type:
Article
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Published in:
Nature Genetics, 2008, v. 40, n. 3, p. 322, doi. 10.1038/ng.93
By:
- Sharp, Andrew J.;
- Mefford, Heather C.;
- Kelly Li;
- Baker, Carl;
- Skinner, Cindy;
- Stevenson, Roger E.;
- Schroer, Richard J.;
- Novara, Francesca;
- De Gregori, Manuela;
- Ciccone, Roberto;
- Broomer, Adam;
- Casuga, Iris;
- Yu Wang;
- Chunlin Xiao;
- Barbacioru, Catalin;
- Gimelli, Giorgio;
- Bernardina, Bernardo Dalla;
- Torniero, Claudia;
- Giorda, Roberto;
- Regan, Regina
Publication type:
Article
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Published in:
Nature Genetics, 2006, v. 38, n. 9, p. 999, doi. 10.1038/ng1853
By:
- Koolen, David A.;
- Vissers, Lisenka E. L. M.;
- Pfundt, Rolph;
- de Leeuw, Nicole;
- Knight, Samantha J. L.;
- Regan, Regina;
- Kooy, R. Frank;
- Reyniers, Edwin;
- Romano, Corrado;
- Fichera, Marco;
- Schinzel, Albert;
- Baumer, Alessandra;
- Anderlid, Britt-Marie;
- Schoumans, Jacqueline;
- Knoers, Nine V.;
- van Kessel, Ad Geurts;
- Sistermans, Erik A.;
- Veltman, Joris A.;
- Brunner, Han G.;
- de Vries, Bert B. A.
Publication type:
Article
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Published in:
Nature Genetics, 2006, v. 38, n. 9, p. 1038, doi. 10.1038/ng1862
By:
- Sharp, Andrew J.;
- Hansen, Sierra;
- Selzer, Rebecca R.;
- Ze Cheng;
- Regan, Regina;
- Hurst, Jane A.;
- Stewart, Helen;
- Price, Sue M.;
- Blair, Edward;
- Hennekam, Raoul C.;
- Fitzpatrick, Carrie A.;
- Segraves, Rick;
- Richmond, Todd A.;
- Guiver, Cheryl;
- Albertson, Donna G.;
- Pinkel, Daniel;
- Eis, Peggy S.;
- Schwartz, Stuart;
- Knight, Samantha J. L.;
- Eichler, Evan E.
Publication type:
Article
HGDP and HapMap Analysis by Ancestry Mapper Reveals Local and Global Population Relationships.
Published in:
PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049438
By:
- Magalhães, Tiago R.;
- Casey, Jillian P.;
- Conroy, Judith;
- Regan, Regina;
- Fitzpatrick, Darren J.;
- Shah, Naisha;
- Sobral, João;
- Ennis, Sean
Publication type:
Article
Genomic Imbalances Are Confined to Non-Proliferating Cells in Paediatric Patients with Acute Myeloid Leukaemia and a Normal or Incomplete Karyotype.
Published in:
PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020607
By:
- Ballabio, Erica;
- Regan, Regina;
- Garimberti, Elisa;
- Harbott, Jochen;
- Bradtke, Jutta;
- Teigler-Schlegel, Andrea;
- Biondi, Andrea;
- Cazzaniga, Giovanni;
- Giudici, Giovanni;
- Wainscoat, James S.;
- Boultwood, Jacqueline;
- Bridger, Joanna M.;
- Knight, Samantha J. L.;
- Tosi, Sabrina
Publication type:
Article
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Published in:
Human Genetics, 2012, v. 131, n. 4, p. 565, doi. 10.1007/s00439-011-1094-6
By:
- Casey, Jillian;
- Magalhaes, Tiago;
- Conroy, Judith;
- Regan, Regina;
- Shah, Naisha;
- Anney, Richard;
- Shields, Denis;
- Abrahams, Brett;
- Almeida, Joana;
- Bacchelli, Elena;
- Bailey, Anthony;
- Baird, Gillian;
- Battaglia, Agatino;
- Berney, Tom;
- Bolshakova, Nadia;
- Bolton, Patrick;
- Bourgeron, Thomas;
- Brennan, Sean;
- Cali, Phil;
- Correia, Catarina
Publication type:
Article
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 534, doi. 10.1038/ejhg.2010.215
By:
- Lynch, Sally Ann;
- Foulds, Nicola;
- Thuresson, Ann-Charlotte;
- Collins, Amanda L.;
- Annerén, Göran;
- Hedberg, Bernt-Oves;
- Delaney, Carol A.;
- Iremonger, James;
- Murray, Caroline M.;
- Crolla, John A.;
- Costigan, Colm;
- Lam, Wayne;
- Fitzpatrick, David R.;
- Regan, Regina;
- Ennis, Sean;
- Sharkey, Freddie
Publication type:
Article
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
By:
- Koolen, David A.;
- Sistermans, Erik A.;
- Nilessen, Willy;
- Knight, Samantha J. L.;
- Regan, Regina;
- Liu, Yan T.;
- Kooy, R. Frank;
- Rooms, Liesbeth;
- Romano, Corrado;
- Fichera, Marco;
- Schinzel, Albert;
- Baumer, Alessandra;
- Anderlid, Britt-Marie;
- Schoumans, Jacqueline;
- Van Kessel, Ad Geurts;
- Nordenskjold, Magnus;
- De Vries, Bert B. A.
Publication type:
Article
Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200670
By:
- Sismani, Carolina;
- Armour, John AL;
- Flint, Jonathan;
- Girgalli, Christina;
- Regan, Regina;
- Patsalis, Philippos C
Publication type:
Article
Functional impact of global rare copy number variation in autism spectrum disorders.
Published in:
Nature, 2010, v. 466, n. 7304, p. 368, doi. 10.1038/nature09146
By:
- Pinto, Dalila;
- Pagnamenta, Alistair T.;
- Klei, Lambertus;
- Anney, Richard;
- Merico, Daniele;
- Regan, Regina;
- Conroy, Judith;
- Magalhaes, Tiago R.;
- Correia, Catarina;
- Abrahams, Brett S.;
- Almeida, Joana;
- Bacchelli, Elena;
- Bader, Gary D.;
- Bailey, Anthony J.;
- Baird, Gillian;
- Battaglia, Agatino;
- Berney, Tom;
- Bolshakova, Nadia;
- Bölte, Sven;
- Bolton, Patrick F.
Publication type:
Article
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.
Published in:
Nucleic Acids Research, 2005, v. 33, n. 11, p. 3455, doi. 10.1093/nar/gki643
By:
- Price, Thomas S.;
- Regan, Regina;
- Mott, Richard;
- Hedman, Åsa;
- Honey, Ben;
- Daniels, Rachael J.;
- Smith, Lee;
- Greenfield, Andy;
- Tiganescu, Ana;
- Buckle, Veronica;
- Ventress, Nicki;
- Ayyub, Helena;
- Salhan, Anita;
- Pedraza-Diaz, Susana;
- Broxholme, John;
- Ragoussis, Jiannis;
- Higgs, Douglas R.;
- Flint, Jonathan;
- Knight, Samantha J. L.
Publication type:
Article
Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3.
Published in:
2000
By:
- Knight-Jones, Eve;
- Knight, Samantha;
- Heussler, Helen;
- Regan, Regina;
- Flint, Jonathan;
- Martin, Katherine;
- Knight-Jones, E;
- Knight, S;
- Heussler, H;
- Regan, R;
- Flint, J;
- Martin, K
Publication type:
journal article
ANALYZING ILLUMINA HUMAN 1M SNP DATA FOR CNVS USING RAW BEAD-LEVEL DATA.
Published in:
Ulster Medical Journal, 2009, v. 78, n. 1, p. 67
By:
- Shah, Naisha;
- Conroy, Judith;
- Regan, Regina;
- Ennis, Sean;
- Shields, Denis C.
Publication type:
Article
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3316
By:
- Morris, Derek W.;
- Pearson, Richard D.;
- Cormican, Paul;
- Kenny, Elaine M.;
- O'Dushlaine, Colm T.;
- Perreault, Louis-Philippe Lemieux;
- Giannoulatou, Eleni;
- Tropea, Daniela;
- Maher, Brion S.;
- Wormley, Brandon;
- Kelleher, Eric;
- Fahey, Ciara;
- Molinos, Ines;
- Bellini, Stefania;
- Pirinen, Matti;
- Strange, Amy;
- Freeman, Colin;
- Thiselton, Dawn L.;
- Elves, Rachel L.;
- Regan, Regina
Publication type:
Article
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype.
Published in:
Human Mutation, 2011, v. 32, n. 12, p. 1417, doi. 10.1002/humu.21590
By:
- Casey, Jillian;
- Kawaguchi, Riki;
- Morrissey, Maria;
- Sun, Hui;
- McGettigan, Paul;
- Nielsen, Jens E.;
- Conroy, Judith;
- Regan, Regina;
- Kenny, Elaine;
- Cormican, Paul;
- Morris, Derek W.;
- Tormey, Peter;
- Ní Chróinín, Muireann;
- Kennedy, Breandan N.;
- Lynch, SallyAnn;
- Green, Andrew;
- Ennis, Sean
Publication type:
Article
A genome-wide scan for common alleles affecting risk for autism.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 20, p. 4072, doi. 10.1093/hmg/ddq307
By:
- Anney, Richard;
- Klei, Lambertus;
- Pinto, Dalila;
- Regan, Regina;
- Conroy, Judith;
- Magalhaes, Tiago R.;
- Correia, Catarina;
- Abrahams, Brett S.;
- Sykes, Nuala;
- Pagnamenta, Alistair T.;
- Almeida, Joana;
- Bacchelli, Elena;
- Bailey, Anthony J.;
- Baird, Gillian;
- Battaglia, Agatino;
- Berney, Tom;
- Bolshakova, Nadia;
- Bölte, Sven;
- Bolton, Patrick F.;
- Bourgeron, Thomas
Publication type:
Article
Characterization of a recurrent 15q24 microdeletion syndrome.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
By:
- Sharp, Andrew J.;
- Selzer, Rebecca R.;
- Veltman, Joris A.;
- Gimelli, Stefania;
- Gimelli, Giorgio;
- Striano, Pasquale;
- Coppola, Antonietta;
- Regan, Regina;
- Price, Sue M.;
- Knoers, Nine V.;
- Eis, Peggy S.;
- Brunner, Han G.;
- Hennekam, Raoul C.;
- Knight, Samantha J.L.;
- de Vries, Bert B.A.;
- Zuffardi, Orsetta;
- Eichler, Evan E.
Publication type:
Article

Found: 20