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Select item 54228681.

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P. Burdon

BMC Med Genet. 2017; 18: 52. Published online 2017 May 8. doi: 10.1186/s12881-017-0414-7

PMCID:: PMC5422868

Article PDF–2.4M

Select item 58399892.

Mutation Update of Transcription Factor Genes FOXE3, HSF4, MAF and PITX3 Causing Cataracts and Other Developmental Ocular Defects

Deepti Anand, Smriti A. Agrawal, Anne Slavotinek, Salil A. Lachke

Hum Mutat. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Hum Mutat. 2018 Apr; 39(4): 471–494. Published online 2018 Jan 16. doi: 10.1002/humu.23395

PMCID:: PMC5839989

Article PDF–2.6M

Select item 45705523.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria T. Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni, Takaya Nakane, Kim Keppler-Noreuil, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan H.L. Lee, Celio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol-Church, Marco Tartaglia

Am J Hum Genet. 2015 May 7; 96(5): 816–825. doi: 10.1016/j.ajhg.2015.03.001

PMCID:: PMC4570552

Article PDF–1.5M

Select item 107761884.

Heart Failure in a Young Adult with a Fine-Lubinsky Syndrome: An Unknown Comorbidity

Blake Purtle, Jason Wagner, Andrew Zarker, Vishal Patel, David Aguilar

Case Rep Cardiol. 2024; 2024: 5596010. Published online 2024 Jan 2. doi: 10.1155/2024/5596010

PMCID:: PMC10776188

Article PDF–851K

Select item 86495865.

Characteristics and outcomes of glomerulonephritis with membranoproliferative pattern in children

Linan Xu, Fengfang Wei, Jiayan Feng, Jiaojiao Liu, Jialu Liu, Xiaoshan Tang, Xiaoyan Fang, Jing Chen, Yihui Zhai, Haimei Liu, Li Sun, Yanyan Qian, Bingbing Wu, Huijun Wang, Qian Shen, Jia Rao, Hong Xu

Transl Pediatr. 2021 Nov; 10(11): 2985–2996. doi: 10.21037/tp-21-286

PMCID:: PMC8649586

Article PDF–1.5M

Select item 82542646.

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho, Beom Hee Lee

BMC Med Genomics. 2021; 14: 177. Published online 2021 Jul 3. doi: 10.1186/s12920-021-01026-6

PMCID:: PMC8254264

Article PDF–1.5M

Select item 110556967.

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro

Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente

Cell Tissue Res. 2024; 396(2): 255–267. Published online 2024 Mar 19. doi: 10.1007/s00441-024-03876-9

PMCID:: PMC11055696

Article PDF–7.2M

Select item 110504358.

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report

Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Rafał Płoski, Nadezda Bohynikova, Maria Szczepańska

Int J Mol Sci. 2024 Apr; 25(8): 4486. Published online 2024 Apr 19. doi: 10.3390/ijms25084486

PMCID:: PMC11050435

Article PDF–1.2M

Select item 110501439.

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Ji Yoon Han, Joonhong Park

Genes (Basel) 2024 Apr; 15(4): 445. Published online 2024 Mar 31. doi: 10.3390/genes15040445

PMCID:: PMC11050143

Article PDF–1.2M

Select item 1104964410.

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene

Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella

Genes (Basel) 2024 Apr; 15(4): 430. Published online 2024 Mar 29. doi: 10.3390/genes15040430

PMCID:: PMC11049644

Article PDF–732K

Select item 1104948111.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review

Alessandro Orsini, Andrea Santangelo, Alessandra Carmignani, Anna Camporeale, Francesco Massart, Nina Tyutyusheva, Diego Giampietro Peroni, Thomas Foiadelli, Alessandro Ferretti, Benedetta Toschi, Silvia Romano, Alice Bonuccelli

Genes (Basel) 2024 Apr; 15(4): 436. Published online 2024 Mar 29. doi: 10.3390/genes15040436

PMCID:: PMC11049481

Article PDF–1.0M

Select item 1104925712.

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

Ineke Cordova, Alyssa Blesson, Juliann M. Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra

Genes (Basel) 2024 Apr; 15(4): 423. Published online 2024 Mar 28. doi: 10.3390/genes15040423

PMCID:: PMC11049257

Article PDF–210K

Select item 1104817913.

Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact

Khatereh Saei Arezoumand, Chris-Tiann Roberts, Mojgan Rastegar

Biomolecules. 2024 Apr; 14(4): 505. Published online 2024 Apr 21. doi: 10.3390/biom14040505

PMCID:: PMC11048179

Article PDF–3.7M

Select item 1104796114.

Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back

Mohamed S. Taha, Mohammad Reza Ahmadian

Biomolecules. 2024 Apr; 14(4): 399. Published online 2024 Mar 26. doi: 10.3390/biom14040399

PMCID:: PMC11047961

Article PDF–1.2M

Select item 1104313615.

Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)_n insertion in spinocerebellar ataxia type 37

Marina Sanchez-Flores, Marc Corral-Juan, Esther Gasch-Navalón, Davide Cirillo, Ivelisse Sanchez, Antoni Matilla-Dueñas

Hum Genet. 2024; 143(3): 211–232. Published online 2024 Feb 23. doi: 10.1007/s00439-024-02644-7

PMCID:: PMC11043136

Article PDF–5.6M

Select item 1104280516.

PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association

Marcel Proske, Robert Janowski, Sabrina Bacher, Hyun-Seo Kang, Thomas Monecke, Tony Koehler, Saskia Hutten, Jana Tretter, Anna Crois, Lena Molitor, Alejandro Varela-Rial, Roberto Fino, Elisa Donati, Gianni De Fabritiis, Dorothee Dormann, Michael Sattler, Dierk Niessing

eLife. 2024; 13: RP93561. Published online 2024 Apr 24. doi: 10.7554/eLife.93561

PMCID:: PMC11042805

Article PDF–5.8M

Select item 1104162217.

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment

Khurram Liaqat, Thashi Bharadwaj, Khadim Shah, Abdul Nasir, Anushree Acharya, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

Clin Genet. Author manuscript; available in PMC 2024 Apr 24.

Published in final edited form as: Clin Genet. 2023 Oct; 104(4): 499–501. Published online 2023 Jun 13. doi: 10.1111/cge.14390

PMCID:: PMC11041622

Article PDF–619K

Select item 1103258718.

A novel variant in NSUN2 causes intellectual disability in a Chinese family

Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo

BMC Med Genomics. 2024; 17: 95. Published online 2024 Apr 20. doi: 10.1186/s12920-024-01883-x

PMCID:: PMC11032587

Article PDF–990K

Select item 1103254519.

Whole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease

Laura Xicota, Stephanie Cosentino, Badri Vardarajan, Richard Mayeux, Thomas T. Perls, Stacy L. Andersen, Joseph M. Zmuda, Bharat Thyagarajan, Anatoli Yashin, Mary K. Wojczynski, Sharon Krinsky‐McHale, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark E. Mapstone, Nicole Schupf, Joseph H. Lee, Sandra Barral, the Long‐Life Family Study (LLFS), Alzheimer's Disease Genetic Consortium (ADGC) , Alzheimer's Biomarkers Consortium‐Down Syndrome (ABC‐DS)

Alzheimers Dement. 2024 Apr; 20(4): 2670–2679. Published online 2024 Feb 21. doi: 10.1002/alz.13718

PMCID:: PMC11032545

Article PDF–577K

Select item 1103225220.

Epigenetic Causes of Overgrowth Syndromes

Julian C Lui, Jeffrey Baron

J Clin Endocrinol Metab. 2024 Feb; 109(2): 312–320. Published online 2023 Jul 14. doi: 10.1210/clinem/dgad420

PMCID:: PMC11032252

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