PMC Articles for MedGen (Select 1620071) - PMC

Select item 102374701.

Under-diagnosis of vector-borne diseases among individuals suspected of having Scrub Typhus in South Korea

Eun Jeong Won, Seong Hoon Kim, Kyeong Hwan Byeon, Chae-Hyeon Jeon, Seung-Ji Kang, Joo-Heon Park, Seung-Jung Kee, Hyun-Woo Choi

PLoS One. 2023; 18(6): e0286631. Published online 2023 Jun 2. doi: 10.1371/journal.pone.0286631

PMCID:: PMC10237470

Abstract Article PDF–1.1M

Select item 73201202.

Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations

Naoya Morisada, Riku Hamada, Kenichiro Miura, Ming Juan Ye, Kandai Nozu, Motoshi Hattori, Kazumoto Iijima

CEN Case Rep. 2020 Aug; 9(3): 260–265. Published online 2020 Apr 6. doi: 10.1007/s13730-020-00472-y

PMCID:: PMC7320120

Abstract Article PDF–1.4M

Select item 55572763.

15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz-Pérez, Jaclyn S. Lee, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet

J Med Genet. Author manuscript; available in PMC 2017 Aug 15.

Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436

PMCID:: PMC5557276

Abstract Article PDF–786K

Select item 54138464.

Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

Arjan Bouman, Mariëlle Alders, Roelof Jan Oostra, Elisabeth van Leeuwen, Nikki Thuijs, Anne‐Marie van der Kevie‐Kersemaekers, Merel van Maarle

Am J Med Genet A. 2017 May; 173(5): 1383–1389. Published online 2017 Apr 3. doi: 10.1002/ajmg.a.38179

PMCID:: PMC5413846

Abstract Article PDF–1.9M

Select item 34067595.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Tom R. Webb, David A. Parfitt, Jessica C. Gardner, Ariadna Martinez, Dalila Bevilacqua, Alice E. Davidson, Ilaria Zito, Dawn L. Thiselton, Jacob H.C. Ressa, Marina Apergi, Nele Schwarz, Naheed Kanuga, Michel Michaelides, Michael E. Cheetham, Michael B. Gorin, Alison J. Hardcastle

Hum Mol Genet. 2012 Aug 15; 21(16): 3647–3654. Published online 2012 May 22. doi: 10.1093/hmg/dds194

PMCID:: PMC3406759

Abstract Article PDF–218K

Select item 33138696.

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser

Orphanet J Rare Dis. 2012; 7: 4. Published online 2012 Jan 11. doi: 10.1186/1750-1172-7-4

PMCID:: PMC3313869

Abstract Article PDF–4.4M

Select item 25645047.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

C Thauvin‐Robinet, M Cossée, V Cormier‐Daire, L Van Maldergem, A Toutain, Y Alembik, E Bieth, V Layet, P Parent, A David, A Goldenberg, G Mortier, D Héron, P Sagot, A M Bouvier, F Huet, V Cusin, A Donzel, D Devys, J R Teyssier

J Med Genet. 2006 Jan; 43(1): 54–61. doi: 10.1136/jmg.2004.027672

PMCID:: PMC2564504

Abstract Article PDF–498K

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