PMC Articles for MedGen (Select 871344) - PMC

Select item 45430441.

Pai syndrome: first reported case in Qatar and review of literature of previously published cases

Mohamed Abdelmaaboud, Nuha Nimeri

BMJ Case Rep. 2012; 2012: bcr0220125940. Published online 2012 Aug 21. doi: 10.1136/bcr-02-2012-5940

PMCID:: PMC4543044

Select item 1356822.

Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis

Stéphanie Cherqui, Caroline Sevin, Ghislaine Hamard, Vasiliki Kalatzis, Mireille Sich, Marie O. Pequignot, Karïn Gogat, Marc Abitbol, Michel Broyer, Marie-Claire Gubler, Corinne Antignac

Mol Cell Biol. 2002 Nov; 22(21): 7622–7632. doi: 10.1128/MCB.22.21.7622-7632.2002

PMCID:: PMC135682

Abstract Article PDF–777K

Select item 3110983.

Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere

Tim K. Footz, Polly Brinkman-Mills, Graham S. Banting, Stephanie A. Maier, M. Ali Riazi, Lindsay Bridgland, Song Hu, Bruce Birren, Shinsei Minoshima, Nobuyoshi Shimizu, HuaQin Pan, Thuan Nguyen, Fang Fang, Ying Fu, Linda Ray, Hui Wu, Steve Shaull, Stacey Phan, Ziyun Yao, Feng Chen, Axin Huan, Ping Hu, Qiaoyan Wang, Phoebe Loh, Sulan Qi, Bruce A. Roe, Heather E. McDermid

Genome Res. 2001 Jun; 11(6): 1053–1070. doi: 10.1101/gr.154901

PMCID:: PMC311098

Abstract Article PDF–797K

Select item 11903274.

Melk-Like Kinase Plays a Role in Hematopoiesis in the Zebra Fish

Rika Saito, Yoko Tabata, Akihiko Muto, Ken-ichi Arai, Sumiko Watanabe

Mol Cell Biol. 2005 Aug; 25(15): 6682–6693. doi: 10.1128/MCB.25.15.6682-6693.2005

PMCID:: PMC1190327

Abstract Article PDF–995K

Select item 29214885.

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Arijit Mukhopadhyay, Jamie M. Kramer, Gerard Merkx, Dorien Lugtenberg, Dominique F. Smeets, Merel A. W. Oortveld, Ellen A. W. Blokland, Jyoti Agrawal, Annette Schenck, Hans van Bokhoven, Erik Huys, Eric F. Schoenmakers, Ad Geurts van Kessel, C. Erik van Nouhuys, Frans P. M. Cremers

Hum Genet. 2010; 128(3): 281–291. Published online 2010 Jun 22. doi: 10.1007/s00439-010-0848-x

PMCID:: PMC2921488

Abstract Article PDF–537K

Select item 32205646.

Molecular Mechanisms of Disease for Mutations at Gly-90 in Rhodopsin

Darwin Toledo, Eva Ramon, Mònica Aguilà, Arnau Cordomí, Juan J. Pérez, Hugo F. Mendes, Michael E. Cheetham, Pere Garriga

J Biol Chem. 2011 Nov 18; 286(46): 39993–40001. Published online 2011 Sep 22. doi: 10.1074/jbc.M110.201517

PMCID:: PMC3220564

Abstract Article PDF–1.5M

Select item 34707107.

Atypical face shape and genomic structural variants in epilepsy

Krishna Chinthapalli, Emanuele Bartolini, Jan Novy, Michael Suttie, Carla Marini, Melania Falchi, Zoe Fox, Lisa M. S. Clayton, Josemir W. Sander, Renzo Guerrini, Chantal Depondt, Raoul Hennekam, Peter Hammond, Sanjay M. Sisodiya

Brain. 2012 Oct; 135(10): 3101–3114. Published online 2012 Sep 13. doi: 10.1093/brain/aws232

PMCID:: PMC3470710

Abstract Article PDF–373K

Select item 34712408.

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

Iman Sahly, Eric Dufour, Cataldo Schietroma, Vincent Michel, Amel Bahloul, Isabelle Perfettini, Elise Pepermans, Amrit Estivalet, Diane Carette, Asadollah Aghaie, Inga Ebermann, Andrea Lelli, Maria Iribarne, Jean-Pierre Hardelin, Dominique Weil, José-Alain Sahel, Aziz El-Amraoui, Christine Petit

J Cell Biol. 2012 Oct 15; 199(2): 381–399. doi: 10.1083/jcb.201202012

PMCID:: PMC3471240

Abstract Article PDF–6.5M

Select item 37625629.

An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village

Carlos Pantoja-Melendez, Manir Ali, Juan C. Zenteno

Mol Vis. 2013; 19: 1866–1870. Published online 2013 Aug 27.

PMCID:: PMC3762562

Abstract Article PDF–614K

Select item 968570410.

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

Zexu Chen, Tianhui Chen, Min Zhang, Jiahui Chen, Michael Deng, Jialei Zheng, Li-Na Lan, Yongxiang Jiang

Br J Ophthalmol. 2022 Dec; 106(12): 1655–1661. Published online 2021 Jul 19. doi: 10.1136/bjophthalmol-2021-319084

PMCID:: PMC9685704

Abstract Article PDF–2.2M

Select item 569132511.

Quantification of the Calcification Phenotype of Abcc6-Deficient Mice with Microcomputed Tomography

Yannick Le Corre, Olivier Le Saux, Florence Froeliger, Hélène Libouban, Gilles Kauffenstein, Serge Willoteaux, Georges Leftheriotis, Ludovic Martin

Am J Pathol. 2012 Jun; 180(6): 2208–2213. doi: 10.1016/j.ajpath.2012.02.007

PMCID:: PMC5691325

Abstract Article PDF–1.1M

Select item 593151212.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

Aymeric Douillard, Marie-Christine Picot, Cécile Delcourt, Sabine Defoort-Dhellemmes, Nour Al-Dain Marzouka, Annie Lacroux, Xavier Zanlonghi, Isabelle Drumare, Elsa Jozefowicz, Béatrice Bocquet, Corinne Baudoin, Sarah Perez-Roustit, Sophie Arsène, Valérie Gissot, François Devin, Carl Arndt, Benjamin Wolff, Martine Mauget-Faÿsse, Maddalena Quaranta, Thibault Mura, Dominique Deplanque, Hassiba Oubraham, Salomon Yves Cohen, Pierre Gastaud, Olivia Zambrowski, Catherine Creuzot-Garcher, Saddek Mohand Saïd, José-Alain Sahel, Eric Souied, Solange Milazzo, Rocio Blanco Garavito, Vasiliki Kalatzis, Bernard Puech, Christian Hamel, Isabelle Audo, Isabelle Meunier

Sci Rep. 2018; 8: 6840. Published online 2018 May 1. doi: 10.1038/s41598-018-25003-9

PMCID:: PMC5931512

Abstract Article PDF–1.4M

Select item 600788113.

Williams-Beuren Syndrome in Diverse Populations

Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary TK Mok, Cedrik Tekendo-Ngongang, Karen Fieggen, E.J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Luk Ho-Ming, Ivan FM Lo, Meow-Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni-Chung Lee, Saumya S. Jamuar, Angeline Lai, Tan Ee Shien, Jiin Ying Lim, Cham Breana Wen-Min, Neerja Gupta, Stephanie Lotz-Esquivel, Ramsés Badilla-Porras, Dalia Farouk Hussen, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H.Y. Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, Adeyemo A. Adebowale, Colleen A. Morris, Danilo Moretti-Ferreira, Marius George Linguraru, Maximilian Muenke

Am J Med Genet A. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Am J Med Genet A. 2018 May; 176(5): 1128–1136. doi: 10.1002/ajmg.a.38672

PMCID:: PMC6007881

Abstract Article PDF–932K

Select item 740146114.

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

Dan-Dan Wang, Feng-Juan Gao, Jian-Kang Li, Fang Chen, Fang-Yuan Hu, Ge-Zhi Xu, Jian-Guo Zhang, Hao-Xiang Sun, Sheng-Hai Zhang, Ping Xu, Guo-Hong Tian, Ji-Hong Wu

Invest Ophthalmol Vis Sci. 2020 Mar; 61(3): 10. Published online 2020 Mar 16. doi: 10.1167/iovs.61.3.10

PMCID:: PMC7401461

Abstract Article PDF–4.4M

Select item 755371915.

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome

Yayun Qin, Pang Gao, Shanshan Yu, Jingzhen Li, Yuwen Huang, Danna Jia, Zhaohui Tang, Pengcheng Li, Fei Liu, Mugen Liu

Mol Vis. 2020; 26: 670–678. Published online 2020 Oct 4.

PMCID:: PMC7553719

Abstract Article PDF–3.7M

Select item 798131816.

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies

Liliya Nazlamova, N. Simon Thomas, Man-Kim Cheung, Jelmer Legebeke, Jenny Lord, Reuben J. Pengelly, William J. Tapper, Gabrielle Wheway

Hum Genet. 2021; 140(4): 593–607. Published online 2020 Oct 23. doi: 10.1007/s00439-020-02228-1

PMCID:: PMC7981318

Abstract Article PDF–4.2M

Select item 805121317.

Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados

Morris Hilary Scantlebury, Karlene Tanechia Barrett, Simeona Jacinto, David Orlando Christopher Corbin, Marina Kerr, Aneal Khan

Pan Afr Med J. 2021; 38: 111. Published online 2021 Feb 3. doi: 10.11604/pamj.2021.38.111.27969

PMCID:: PMC8051213

Abstract Article PDF–250K

Select item 805137018.

Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene

Nisha Gupta, Thomas Kitzler, Steffen Albrecht, Vincent Larouche

BMJ Case Rep. 2021; 14(4): e241886. Published online 2021 Apr 13. doi: 10.1136/bcr-2021-241886

PMCID:: PMC8051370

Abstract Article PDF–574K

Select item 940223519.

Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease

Avgi Andreou, Bryndis Yngvadottir, Laia Bassaganyas, Graeme Clark, Ezequiel Martin, James Whitworth, Alex J Cornish, Genomics England Research Consortium, Richard S Houlston, Philip Rich, Catherine Egan, Shirley V Hodgson, Anne Y Warren, Katie Snape, Eamonn R Maher

Hum Mol Genet. 2022 Aug 15; 31(16): 2728–2737. Published online 2022 Mar 21. doi: 10.1093/hmg/ddac066

PMCID:: PMC9402235

Abstract Article PDF–1.5M

Select item 31674820.

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith–Wiedemann and Simpson–Golabi–Behmel syndromes

Jonathan Eggenschwiler, Thomas Ludwig, Peter Fisher, Philip A. Leighton, Shirley M. Tilghman, Argiris Efstratiadis

Genes Dev. 1997 Dec 1; 11(23): 3128–3142. doi: 10.1101/gad.11.23.3128

PMCID:: PMC316748

Abstract Article PDF–201K

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