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Select item 110760611.

Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins

Irina Geiculescu, Matthew A. Saxonhouse, Laurie Demmer, Ronald Sutsko, Graham Cosper, James E. Jones

J Pediatr Genet. 2024 Jun; 13(2): 123–126. Published online 2021 Nov 9. doi: 10.1055/s-0041-1739386

PMCID:: PMC11076061

Abstract Article PDF–92K

Select item 18671052.

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano-Bessières, Maryse Bonnière, Sophie Delahaye, Arnold Munnich, Férechté Encha-Razavi, Stanislas Lyonnet, Michel Vekemans, Tania Attié-Bitach, Heather C. Etchevers

Am J Hum Genet. 2007 Jun; 80(6): 1179–1187. Published online 2007 Apr 11. doi: 10.1086/518177

PMCID:: PMC1867105

Abstract Article PDF–215K

Select item 75074293.

Expanding the phenotype of STRA6‐related disorder to include left ventricular non‐compaction

Hairui Sun, Shaomei Yu, Xiaoxue Zhou, Lu Han, Hongjia Zhang, Yihua He

Mol Genet Genomic Med. 2020 Sep; 8(9): e1377. Published online 2020 Jun 29. doi: 10.1002/mgg3.1377

PMCID:: PMC7507429

Abstract Article PDF–515K

Select item 43767944.

Production of Functional Human Vitamin A Transporter/RBP Receptor (STRA6) for Structure Determination

Conor J. Breen, Darren S. Martin, Hui Ma, Kate McQuaid, Richard O’Kennedy, John B. C. Findlay

PLoS One. 2015; 10(3): e0122293. Published online 2015 Mar 27. doi: 10.1371/journal.pone.0122293

PMCID:: PMC4376794

Abstract Article PDF–887K

Select item 39180015.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype

Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N Kennedy, SallyAnn Lynch, Andrew Green, Sean Ennis

Hum Mutat. Author manuscript; available in PMC 2014 Feb 7.

Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1417–1426. Published online 2011 Sep 29. doi: 10.1002/humu.21590

PMCID:: PMC3918001

Abstract Article PDF–2.2M

Select item 37912546.

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie-Pierre Cordier, José-Mario Capo-Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F. Hamdan, Guy A. Rouleau, André Tremblay, Jacques L. Michaud

Am J Hum Genet. 2013 Oct 3; 93(4): 765–772. doi: 10.1016/j.ajhg.2013.08.014

Correction in:: Am J Hum Genet. 2013 Nov 7; 93(5): 994.

PMCID:: PMC3791254

Abstract Article PDF–835K

Select item 37233107.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Mani Yahyavi, Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Tong Xiao, Tanya Bardakjian, Adele Schneider, Alex Choi, Eric Jorgenson, Herwig Baier, Mohamad El Sada, Daniel F. Schorderet, Anne M. Slavotinek

Hum Mol Genet. 2013 Aug 15; 22(16): 3250–3258. Published online 2013 Apr 15. doi: 10.1093/hmg/ddt179

PMCID:: PMC3723310

Abstract Article PDF–401K

Select item 32241528.

Eye Development Genes and Known Syndromes

Anne M. Slavotinek

Mol Genet Metab. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Mol Genet Metab. 2011 Dec; 104(4): 448–456. Published online 2011 Sep 29. doi: 10.1016/j.ymgme.2011.09.029

PMCID:: PMC3224152

Abstract Article PDF–347K

Select item 31549849.

Retinaldehyde dehydrogenase 2 is down regulated during duodenal atresia formation in Fgfr2IIIb−/− mice

Peter F. Nichol, John D. Tyrrell, Yukio Saijoh

J Surg Res. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: J Surg Res. 2012 Jun 1; 175(1): 82–87. Published online 2011 Mar 21. doi: 10.1016/j.jss.2011.02.040

PMCID:: PMC3154984

Abstract Article PDF–1.1M

Select item 1020264710.

STRA6 is essential for induction of vascular smooth muscle lineages in human embryonic cardiac outflow tract development

Chikai Zhou, Timm Häneke, Eduarde Rohner, Jesper Sohlmér, Polina Kameneva, Artem Artemov, Igor Adameyko, Makoto Sahara

Cardiovasc Res. 2023 May; 119(5): 1202–1217. Published online 2023 Jan 13. doi: 10.1093/cvr/cvad010

PMCID:: PMC10202647

Abstract Article PDF–1.5M

Select item 680008011.

Newborn with Anophthalmia and Features of Fryns Syndrome

Diane M. Pierson, Antonio Subtil, Eugenio Taboada, Merlin G. Butler

Pediatr Dev Pathol. Author manuscript; available in PMC 2019 Oct 18.

Published in final edited form as: Pediatr Dev Pathol. 2002 Nov-Dec; 5(6): 592–596. Published online 2002 Oct 14. doi: 10.1007/s10024-002-2106-2

PMCID:: PMC6800080

Abstract Article PDF–855K

Select item 643461012.

Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension

Abdurahman A. Andijani, Eman S. Shajira, Amani Abushaheen, Abdulrahman Al-Matary

Am J Case Rep. 2019; 20: 354–360. Published online 2019 Mar 18. doi: 10.12659/AJCR.912873

PMCID:: PMC6434610

Abstract Article PDF–1.8M

Select item 549824913.

Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program

Aimee L. Lucas, Adam Tarlecki, Kellie Van Beck, Casey Lipton, Arindam RoyChoudhury, Elana Levinson, Sheila Kumar, Wendy K. Chung, Harold Frucht, Jeanine M. Genkinger

J Genet Couns. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: J Genet Couns. 2017 Aug; 26(4): 806–813. Published online 2016 Dec 30. doi: 10.1007/s10897-016-0057-4

PMCID:: PMC5498249

Abstract Article PDF–331K

Select item 452676114.

STRA6: role in cellular retinol uptake and efflux

Mary Kelly, Johannes von Lintig

Hepatobiliary Surg Nutr. 2015 Aug; 4(4): 229–242. doi: 10.3978/j.issn.2304-3881.2015.01.12

PMCID:: PMC4526761

Abstract Article PDF–2.2M

Select item 256127615.

RBP4 Disrupts Vitamin A Uptake Homeostasis in a STRA6-Deficient Animal Model for Matthew-Wood Syndrome

Andrea Isken, Marcin Golczak, Vitus Oberhauser, Silke Hunzelmann, Wolfgang Driever, Yoshikazu Imanishi, Krzysztof Palczewski, Johannes von Lintig

Cell Metab. Author manuscript; available in PMC 2009 Mar 1.

Published in final edited form as: Cell Metab. 2008 Mar; 7(3): 258–268. doi: 10.1016/j.cmet.2008.01.009

PMCID:: PMC2561276

Abstract Article PDF–1.7M

Select item 1113431416.

Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management

Emma A. Snyder, Adrianna K. San Roman, Raul E. Piña-Aguilar, Marcie A. Steeves, Erin A. McNamara, Irene Souter, Frances J. Hayes, Lynne L. Levitsky, Angela E. Lin

Eur J Med Genet. Author manuscript; available in PMC 2024 May 29.

Published in final edited form as: Eur J Med Genet. 2021 Mar; 64(3): 104140. Published online 2021 Jan 29. doi: 10.1016/j.ejmg.2021.104140

PMCID:: PMC11134314

Abstract Article PDF–354K

Select item 1113342617.

Mice with deficiency in Pcdh15, a gene associated with bipolar disorders, exhibit significantly elevated diurnal amplitudes of locomotion and body temperature

Daisuke Mori, Chihiro Inami, Ryosuke Ikeda, Masahito Sawahata, Shinji Urata, Sho T. Yamaguchi, Yohei Kobayashi, Kosuke Fujita, Yuko Arioka, Hiroki Okumura, Itaru Kushima, Akiko Kodama, Toshiaki Suzuki, Takashi Hirao, Akira Yoshimi, Akira Sobue, Takahiro Ito, Yukikiro Noda, Hiroyuki Mizoguchi, Taku Nagai, Kozo Kaibuchi, Shigeo Okabe, Koji Nishiguchi, Kazuhiko Kume, Kiyofumi Yamada, Norio Ozaki

Transl Psychiatry. 2024; 14: 216. Published online 2024 May 28. doi: 10.1038/s41398-024-02952-6

PMCID:: PMC11133426

Abstract Article PDF–3.4M

Select item 1113340918.

Effect of nonsense-mediated mRNA decay factor SMG9 deficiency on premature aging in zebrafish

Shaohong Lai, Hiroshi Shiraishi, Wulan Apridita Sebastian, Nobuyuki Shimizu, Ryohei Umeda, Mayo Ikeuchi, Kyoko Kiyota, Takashi Takeno, Shuya Miyazaki, Shinji Yano, Tatsuo Shimada, Akihiko Yoshimura, Reiko Hanada, Toshikatsu Hanada

Commun Biol. 2024; 7: 654. Published online 2024 May 28. doi: 10.1038/s42003-024-06356-6

PMCID:: PMC11133409

Abstract Article PDF–11M

Select item 1112741819.

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng

BMC Med Genomics. 2024; 17: 142. Published online 2024 May 24. doi: 10.1186/s12920-024-01904-9

PMCID:: PMC11127418

Abstract Article PDF–1.8M

Select item 1112639320.

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Jessica Zucco, Federica Baldan, Lorenzo Allegri, Elisa Bregant, Nadia Passon, Alessandra Franzoni, Angela Valentina D’Elia, Flavio Faletra, Giuseppe Damante, Catia Mio

J Hum Genet. 2024; 69(6): 271–282. Published online 2024 Mar 8. doi: 10.1038/s10038-024-01237-6

PMCID:: PMC11126393

Abstract Article PDF–1.5M

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