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Select item 58148671.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Marianna Alagia, Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Raffaella Brunetti‐Pierri, Francesca Simonelli, Giuseppe Limongelli, Guido Oppido, Vincenzo Nigro, Nicola Brunetti‐Pierri, TUDP

Am J Med Genet A. 2018 Feb; 176(2): 426–430. Published online 2017 Dec 12. doi: 10.1002/ajmg.a.38560

PMCID:: PMC5814867

Article PDF–346K

Select item 10417502.

Corectopia and lipoid proteinosis.

L N Johnson, R S Hepler

Br J Ophthalmol. 1989 May; 73(5): 394–396. doi: 10.1136/bjo.73.5.394

PMCID:: PMC1041750

Summary Page Browse PDF–1.1M

Select item 5050433.

Ectopia lentis et pupillae syndrome in three generations.

J R Cruysberg, A Pinckers

Br J Ophthalmol. 1995 Feb; 79(2): 135–138. doi: 10.1136/bjo.79.2.135

PMCID:: PMC505043

Summary Page Browse PDF–1.1M

Select item 104081644.

A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis

Yanping Yu, Hongyan Jia, Qian Ma, Ranran Zhang, Yonghong Jiao

BMC Ophthalmol. 2023; 23: 349. Published online 2023 Aug 8. doi: 10.1186/s12886-023-03054-5

PMCID:: PMC10408164

Article PDF–3.1M

Select item 98204455.

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation

Eva Fernández-Gutiérrez, Pedro Fernández-Pérez, Ana Boto-De-Los-Bueis, Laura García-Fernández, Patricia Rodríguez-Solana, Mario Solís, Elena Vallespín

Int J Mol Sci. 2023 Jan; 24(1): 209. Published online 2022 Dec 22. doi: 10.3390/ijms24010209

PMCID:: PMC9820445

Article PDF–1.6M

Select item 86627556.

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

Mindy Li, Jennifer Glass, Xiaoli Du, Holly Dubbs, Margaret Horton Harr, Marni Falk, Teresa Smolarek, Robert J. Hopkin, Elaine Zackai, Sarah E. Sheppard

Am J Med Genet A. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Am J Med Genet A. 2021 Aug; 185(8): 2374–2383. Published online 2021 May 10. doi: 10.1002/ajmg.a.62251

PMCID:: PMC8662755

Article PDF–584K

Select item 85596247.

A novel likely pathogenic variant in a patient with Hermansky–Pudlak syndrome

Lisa A. Lansdon, Dong Chen, Eric T. Rush, Kendra Engleman, Lei Zhang, Carol J. Saunders, Gabor Oroszi

Cold Spring Harb Mol Case Stud. 2021 Oct; 7(5): a006110. doi: 10.1101/mcs.a006110

PMCID:: PMC8559624

Article PDF–1.5M

Select item 80351098.

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein

Feng Zhang, Lusi Zhang, Li He, Mengdan Cao, Yuting Yang, Xuanchu Duan, Jingming Shi, Ke Liu

Int Ophthalmol. 2021; 41(4): 1503–1511. Published online 2021 Jan 25. doi: 10.1007/s10792-021-01704-5

PMCID:: PMC8035109

Article PDF–1.1M

Select item 80086699.

Axenfeld‐Rieger syndrome combined with a foveal anomaly in a three‐generation family: a case report

Kinga Gołaszewska, Natalia Dub, Emil Saeed, Zofia Mariak, Joanna Konopińska

BMC Ophthalmol. 2021; 21: 154. Published online 2021 Mar 29. doi: 10.1186/s12886-021-01899-2

PMCID:: PMC8008669

Article PDF–3.8M

Select item 656074410.

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan, Jingming Shi

BMC Med Genet. 2019; 20: 105. Published online 2019 Jun 11. doi: 10.1186/s12881-019-0840-9

PMCID:: PMC6560744

Article PDF–3.4M

Select item 514210711.

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Sek-Shir Cheong, Lisa Hentschel, Alice E. Davidson, Dianne Gerrelli, Rebecca Davie, Roberta Rizzo, Nikolas Pontikos, Vincent Plagnol, Anthony T. Moore, Jane C. Sowden, Michel Michaelides, Martin Snead, Stephen J. Tuft, Alison J. Hardcastle

Am J Hum Genet. 2016 Dec 1; 99(6): 1338–1352. Published online 2016 Nov 10. doi: 10.1016/j.ajhg.2016.09.022

PMCID:: PMC5142107

Article PDF–3.4M

Select item 277653712.

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome

Nobuo Fuse, Kana Takahashi, Shunji Yokokura, Kohji Nishida

Mol Vis. 2007; 13: 1005–1009. Published online 2007 Jun 27.

PMCID:: PMC2776537

Article PDF–296K

Select item 926665813.

Silencing of the Ca²⁺ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

Roberto Silva-Rojas, Laura Pérez-Guàrdia, Emma Lafabrie, David Moulaert, Jocelyn Laporte, Johann Böhm

Int J Mol Sci. 2022 Jul; 23(13): 6968. Published online 2022 Jun 23. doi: 10.3390/ijms23136968

PMCID:: PMC9266658

Article PDF–2.9M

Select item 926307514.

Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement

Eduardo de la Fuente-Munoz, Ana Van Den Rym, Blanca García-Solis, Juliana Ochoa Grullón, Kissy Guevara-Hoyer, Miguel Fernández-Arquero, Lucía Galán Dávila, Jorge Matías-Guiú, Silvia Sánchez-Ramón, Rebeca Pérez de Diego

Front Immunol. 2022; 13: 917601. Published online 2022 Jun 24. doi: 10.3389/fimmu.2022.917601

PMCID:: PMC9263075

Article PDF–1.5M

Select item 849488415.

Distinct roles of haspin in stem cell division and male gametogenesis

Katerina Soupsana, Eleftheria Karanika, Fani Kiosse, Anastasia Christogianni, Yiorgos Sfikas, Pantelis Topalis, Anna Batistatou, Zoi Kanaki, Apostolos Klinakis, Anastasia S. Politou, Spyros Georgatos

Sci Rep. 2021; 11: 19901. Published online 2021 Oct 6. doi: 10.1038/s41598-021-99307-8

PMCID:: PMC8494884

Article PDF–23M

Select item 837207516.

LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay

Xiaoyuan Wang, Huijie Xiao, Baige Su, Yali Ren, Jie Ding, Fang Wang

Mol Genet Genomic Med. 2021 Jul; 9(7): e1704. Published online 2021 May 13. doi: 10.1002/mgg3.1704

PMCID:: PMC8372075

Article PDF–1.0M

Select item 827956817.

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

Cyndya A. Shibao, Karen Joos, John A. Phillips, III, Joy Cogan, John H. Newman, Rizwan Hamid, Jens Meiler, John Capra, Jonathan Sheehan, Francesco Vetrini, Yaping Yang, Bonnie Black, André Diedrich, David Roberston, Italo Biaggioni

Neurology. 2021 Jul 13; 97(2): e145–e155. doi: 10.1212/WNL.0000000000012143

PMCID:: PMC8279568

Article PDF–567K

Select item 814351418.

Congenital Microcoria: Clinical Features and Molecular Genetics

Clémentine Angée, Brigitte Nedelec, Elisa Erjavec, Jean-Michel Rozet, Lucas Fares Taie

Genes (Basel) 2021 May; 12(5): 624. Published online 2021 Apr 22. doi: 10.3390/genes12050624

PMCID:: PMC8143514

Article PDF–2.4M

Select item 802619619.

Laminin β₂ variants associated with isolated nephropathy that impact matrix regulation

Yamato Kikkawa, Taeko Hashimoto, Keiichi Takizawa, Seiya Urae, Haruka Masuda, Masumi Matsunuma, Yuji Yamada, Keisuke Hamada, Motoyoshi Nomizu, Helen Liapis, Masataka Hisano, Yuko Akioka, Kenichiro Miura, Motoshi Hattori, Jeffrey H. Miner, Yutaka Harita

JCI Insight. 2021 Mar 22; 6(6): e145908. Published online 2021 Mar 22. doi: 10.1172/jci.insight.145908