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Select item 96039021.

Association of IGF1 polymorphisms with exotropia in a Pakistani cohort

Zainab Zehra, Netasha Khan, Minhal Nadeem, Sorath Noorani Siddiqui, Christopher S. von Bartheld, Maleeha Azam, Raheel Qamar

Mol Vis. 2022; 28: 369–377. Published online 2022 Oct 6.

PMCID:: PMC9603902

Abstract Article PDF–633K

Select item 86836272.

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

Abstract Article PDF–960K

Select item 82080473.

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

Abstract Article PDF–2.0M

Select item 78270964.

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

Abstract Article PDF–1012K

Select item 74431205.

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

Abstract Article PDF–2.0M

Select item 71287616.

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

Abstract Article PDF–341K

Select item 67775387.

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

Abstract Article PDF–1.7M

Select item 67322748.

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

Abstract Article PDF–423K

Select item 66118939.

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

Abstract Article PDF–2.4M

Select item 609803010.

Genome-wide Association Analysis of Eye Movement Dysfunction in Schizophrenia

Masataka Kikuchi, Kenichiro Miura, Kentaro Morita, Hidenaga Yamamori, Michiko Fujimoto, Masashi Ikeda, Yuka Yasuda, Akihiro Nakaya, Ryota Hashimoto

Sci Rep. 2018; 8: 12347. Published online 2018 Aug 17. doi: 10.1038/s41598-018-30646-9

PMCID:: PMC6098030

Abstract Article PDF–4.2M

Select item 608880011.

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

Abstract Article PDF–723K

Select item 555287612.

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

Abstract Article PDF–2.5M

Select item 457590313.

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

Abstract Article PDF–1.9M

Select item 429066514.

Association of variants in DRD2 and GRM3 with motor and cognitive function in first-episode psychosis

Rebekka Lencer, Jeffrey R. Bishop, Margret S.H. Harris, James L. Reilly, Shitalben Patel, Rick Kittles, Konasale M. Prasad, Vishwajit L. Nimgaonkar, Matcheri S. Keshavan, John A. Sweeney

Eur Arch Psychiatry Clin Neurosci. Author manuscript; available in PMC 2015 Jan 12.

Published in final edited form as: Eur Arch Psychiatry Clin Neurosci. 2014 Jun; 264(4): 345–355. Published online 2013 Oct 25. doi: 10.1007/s00406-013-0464-6

PMCID:: PMC4290665

Abstract Article PDF–338K

Select item 402154015.

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

Abstract Article PDF–236K

Select item 389563316.

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