PMC Articles for MedGen (Select 350026) - PMC

Select item 86836271.

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

Hannaleena Kokkonen, Auli Siren, Tuomo Määttä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M. Nouel‐Saied, Suzanne M. Leal, Irma Järvelä, Isabelle Schrauwen

Mol Genet Genomic Med. 2021 Dec; 9(12): e1703. Published online 2021 May 12. doi: 10.1002/mgg3.1703

PMCID:: PMC8683627

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Select item 82080472.

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

Ram Singh, Ana S.A. Cohen, Cathryn Poulton, Tina Duelund Hjortshøj, Moe Akahira-Azuma, Geetu Mendiratta, Wahab A. Khan, Dimitar N. Azmanov, Karen J. Woodward, Maria Kirchhoff, Lisong Shi, Lisa Edelmann, Gareth Baynam, Stuart A. Scott, Ethylin Wang Jabs

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a005991. doi: 10.1101/mcs.a005991

PMCID:: PMC8208047

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Select item 78270963.

Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis

Joon-Yong An, Jae Ho Jung, Leejee Choi, Eric D. Wieben, Brian G. Mohney

Genes (Basel) 2021 Jan; 12(1): 75. Published online 2021 Jan 10. doi: 10.3390/genes12010075

PMCID:: PMC7827096

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Select item 74431204.

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

Mary C. Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, Alon Gelber, Brandon M. Pratt, Jessica L. Bell, Thomas E. Collins, James A. Knowles, Christopher Armoskus, Michele Pato, Carlos Pato, Sherin Shaaban, Sandra Staffieri, Sarah MacKinnon, Gail D E. Maconachie, James E. Elder, Elias I. Traboulsi, Irene Gottlob, David A. Mackey, David G. Hunter, Elizabeth C. Engle, for the Strabismus Genetics Research Consortium

Invest Ophthalmol Vis Sci. 2020 Aug; 61(10): 22. Published online 2020 Aug 11. doi: 10.1167/iovs.61.10.22

PMCID:: PMC7443120

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Select item 71287615.

Congenital vestibular disease in captive Sumatran tigers (Panthera tigris ssp. sumatrae) in Australasia

Jaimee L. Wheelhouse, Frances Hulst, Julia A. Beatty, Carolyn J. Hogg, Georgina Child, Claire M. Wade, Vanessa R. Barrs

Vet J. 2015 Nov; 206(2): 178–182. Published online 2015 Sep 9. doi: 10.1016/j.tvjl.2015.09.005

PMCID:: PMC7128761

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Select item 67775386.

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Patrick R. Blackburn, Cinthya J. Zepeda-Mendoza, Teresa M. Kruisselbrink, Lisa A. Schimmenti, Sixto García-Miñaur, María Palomares, Julián Nevado, María A. Mori, Guylène Le Meur, Eric W. Klee, Cédric Le Caignec, Pablo Lapunzina, Bertrand Isidor, Dusica Babovic-Vuksanovic

Eur J Hum Genet. 2019 Sep; 27(9): 1379–1388. Published online 2019 May 3. doi: 10.1038/s41431-019-0423-4

PMCID:: PMC6777538

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Select item 67322747.

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang

Mol Genet Genomic Med. 2019 Sep; 7(9): e843. Published online 2019 Jul 18. doi: 10.1002/mgg3.843

PMCID:: PMC6732274

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Select item 66118938.

A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus

Denis Plotnikov, Rupal L. Shah, Jamille N. Rodrigues, Phillippa M. Cumberland, Jugnoo S. Rahi, Pirro G. Hysi, Denize Atan, Cathy Williams, Jeremy A. Guggenheim, UK Biobank Eye and Vision Consortium

Hum Genet. 2019; 138(7): 723–737. Published online 2019 May 9. doi: 10.1007/s00439-019-02022-8

PMCID:: PMC6611893

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Select item 60888009.

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

Sherin Shaaban, Sarah MacKinnon, Caroline Andrews, Sandra E. Staffieri, Gail D. E. Maconachie, Wai-Man Chan, Mary C. Whitman, Sarah U. Morton, Seyhan Yazar, Stuart MacGregor, James E. Elder, Elias I. Traboulsi, Irene Gottlob, Alex W. Hewitt, Strabismus Genetics Research Consortium, David G. Hunter, David A. Mackey, Elizabeth C. Engle

Invest Ophthalmol Vis Sci. 2018 Aug; 59(10): 4054–4064. doi: 10.1167/iovs.18-24082

PMCID:: PMC6088800

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Select item 555287610.

A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes

Decai Wang, Xinyuan Pan, Jiangdong Ji, Shun Gu, Xiantao Sun, Chao Jiang, Weiyi Xia, Zhihua Qiu, Xiaoli Kang, Sijia Ding, Qinghuai Liu, Xue Chen, Fang Lu, Chen Zhao

Sci Rep. 2017; 7: 7799. Published online 2017 Aug 10. doi: 10.1038/s41598-017-07730-7

PMCID:: PMC5552876

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Select item 457590311.

Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis

Saeeda Kalsoom, Muhammad Wasim, Sibtain Afzal, Muhammad Saqib Shahzad, Shaiqa Ramzan, Ali Raza Awan, Aftab Ahmed Anjum, Khushnooda Ramzan

Mol Vis. 2015; 21: 1085–1092. Published online 2015 Sep 17.

PMCID:: PMC4575903

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Select item 402154012.

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

Daniëlle GM Bosch, F Nienke Boonstra, Michèl AAP Willemsen, Frans PM Cremers, Bert BA de Vries

BMC Ophthalmol. 2014; 14: 59. Published online 2014 May 1. doi: 10.1186/1471-2415-14-59

PMCID:: PMC4021540

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Select item 389563313.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Frederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, Elodie Sanchez, Jacques Puechberty, Sabine Endele, Anouck Schneider, Nathalie Ruiz Pallares, Chantal Missirian, Francois Rivier, Manon Girard, Muriel Holder, Sylvie Manouvrier, Isabelle Touitou, Genevieve Lefort, Pierre Sarda, Anne Moncla, Severine Drunat, Dagmar Wieczorek, David Genevieve

Eur J Hum Genet. 2014 Feb; 22(2): 289–292. Published online 2013 May 15. doi: 10.1038/ejhg.2013.113

PMCID:: PMC3895633

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Select item 315413614.

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome

Arif O. Khan, Jameela Shinwari, Latifa Al Sharif, Dania Khalil, Saeed Al-Gehedan, Nada A. Al Tassan

Mol Vis. 2011; 17: 1997–2002. Published online 2011 Jul 20.

PMCID:: PMC3154136

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Select item 308421815.

Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)

Arif O. Khan, Jameela Shinwari, Nada Abu Dhaim, Dania Khalil, Latifa Al Sharif, Nada Al Tassan

Mol Vis. 2011; 17: 971–976. Published online 2011 Apr 19.

PMCID:: PMC3084218

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Select item 275745816.

Genetic and environmental contributions to strabismus and phoria: evidence from twins

Jeremy B. Wilmer, Benjamin T. Backus

Vision Res. Author manuscript; available in PMC 2010 Oct 1.

Published in final edited form as: Vision Res. 2009 Oct; 49(20): 2485–2493. Published online 2009 Aug 11. doi: 10.1016/j.visres.2009.08.006

PMCID:: PMC2757458

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Select item 255697417.

Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle

S. Fink, S. Mömke, A. Wöhlke, O. Distl

Mol Vis. 2008; 14: 1737–1751. Published online 2008 Sep 22.

PMCID:: PMC2556974

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Select item 118860718.

A contribution to the differential diagnosis of the "group of schizophrenias": structural abnormality of chromosome 4.

R M Palmour, S Miller, A Fielding, M Vekemans, F R Ervin

J Psychiatry Neurosci. 1994 Jul; 19(4): 270–277.

PMCID:: PMC1188607

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Select item 21875019.

A strabismus susceptibility locus on chromosome 7p

Vaishali Parikh, Yin Yao Shugart, Kimberly F. Doheny, Jie Zhang, Lan Li, John Williams, David Hayden, Brian Craig, Hilda Capo, Denise Chamblee, Cathy Chen, Mary Collins, Stuart Dankner, Dean Fiergang, David Guyton, David Hunter, Marcia Hutcheon, Marshall Keys, Nancy Morrison, Michelle Munoz, Marshall Parks, David Plotsky, Eugene Protzko, Michael X. Repka, Maria Sarubbi, Bruce Schnall, R. Michael Siatkowski, Elias Traboulsi, Joanne Waeltermann, Jeremy Nathans

Proc Natl Acad Sci U S A. 2003 Oct 14; 100(21): 12283–12288. Published online 2003 Sep 30. doi: 10.1073/pnas.2035118100

Correction in:: Proc Natl Acad Sci U S A. 2004 Mar 30; 101(13): 4718–4719.

PMCID:: PMC218750

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