PMC Links for Books (Select 1470484) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 48886082.

Primary ovarian insufficiency: different approaches in three cases and a review of literature

Ana Marina Moreira, Poli Mara Spritzer

Endocrinol Diabetes Metab Case Rep. 2016; 2016: 160026. Published online 2016 May 27. doi: 10.1530/EDM-16-0026

PMCID:: PMC4888608

Abstract Article PDF–3.9M

Select item 35975173.

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M. B. Carvalho, James R. Lupski, Elfride De Baere

PLoS Genet. 2013 Mar; 9(3): e1003358. Published online 2013 Mar 14. doi: 10.1371/journal.pgen.1003358

PMCID:: PMC3597517

Abstract Article PDF–1.2M

Select item 26896494.

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Barbara D'haene, Catia Attanasio, Diane Beysen, Josée Dostie, Edmond Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E. Antonarakis, Elfride De Baere

PLoS Genet. 2009 Jun; 5(6): e1000522. Published online 2009 Jun 19. doi: 10.1371/journal.pgen.1000522

PMCID:: PMC2689649

Abstract Article PDF–645K

Select item 16858015.

The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.

J Zlotogora, M Sagi, T Cohen

Am J Hum Genet. 1983 Sep; 35(5): 1020–1027.

PMCID:: PMC1685801

Summary Page Browse PDF–548K

Select item 12245246.

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

D. Beysen, J. Raes, B. P. Leroy, A. Lucassen, J. R. W. Yates, J. Clayton-Smith, H. Ilyina, S. Sklower Brooks, S. Christin-Maitre, M. Fellous, J. P. Fryns, J. R. Kim, P. Lapunzina, E. Lemyre, F. Meire, L. M. Messiaen, C. Oley, M. Splitt, J. Thomson, Y. Van de Peer, R. A. Veitia, A. De Paepe, E. De Baere

Am J Hum Genet. 2005 Aug; 77(2): 205–218. Published online 2005 Jun 16. doi: 10.1086/432083

PMCID:: PMC1224524

Abstract Article PDF–3.0M

Select item 3792407.

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Elfride De Baere, Diane Beysen, Christine Oley, Birgit Lorenz, Julie Cocquet, Paul De Sutter, Koen Devriendt, Michael Dixon, Marc Fellous, Jean-Pierre Fryns, Arturo Garza, Christoffer Jonsrud, Pasi A. Koivisto, Amanda Krause, Bart P. Leroy, Françoise Meire, Astrid Plomp, Lionel Van Maldergem, Anne De Paepe, Reiner Veitia, Ludwine Messiaen

Am J Hum Genet. 2003 Feb; 72(2): 478–487. Published online 2003 Jan 14. doi: 10.1086/346118

PMCID:: PMC379240

Abstract Article PDF–278K

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